Incidental Mutation 'R0607:Chd3'
| ID |
54311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd3
|
| Ensembl Gene |
ENSMUSG00000018474 |
| Gene Name |
chromodomain helicase DNA binding protein 3 |
| Synonyms |
2600010P09Rik, Mi-2 alpha, Chd7, Prp7, Prp9-1 |
| MMRRC Submission |
038796-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0607 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69234099-69260232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69235184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 2054
(D2054G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092971]
[ENSMUST00000108661]
[ENSMUST00000129321]
[ENSMUST00000151617]
[ENSMUST00000218008]
|
| AlphaFold |
B1AR17 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092971
AA Change: D2020G
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090649
Gene: ENSMUSG00000018474
AA Change: D2020G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
5 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
180 |
N/A |
INTRINSIC |
|
Pfam:CHDNT
|
199 |
253 |
1.4e-34 |
PFAM |
|
low complexity region
|
257 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
360 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
414 |
N/A |
INTRINSIC |
|
PHD
|
434 |
477 |
1.54e-14 |
SMART |
|
RING
|
435 |
476 |
4.25e-1 |
SMART |
|
PHD
|
510 |
553 |
1.74e-13 |
SMART |
|
RING
|
511 |
552 |
3.93e0 |
SMART |
|
CHROMO
|
558 |
637 |
7.23e-14 |
SMART |
|
CHROMO
|
681 |
730 |
2.85e-12 |
SMART |
|
low complexity region
|
749 |
755 |
N/A |
INTRINSIC |
|
DEXDc
|
784 |
996 |
1.64e-31 |
SMART |
|
low complexity region
|
1107 |
1125 |
N/A |
INTRINSIC |
|
HELICc
|
1142 |
1226 |
2.61e-25 |
SMART |
|
low complexity region
|
1290 |
1303 |
N/A |
INTRINSIC |
|
DUF1087
|
1345 |
1409 |
2.98e-33 |
SMART |
|
DUF1086
|
1415 |
1571 |
1.79e-109 |
SMART |
|
low complexity region
|
1573 |
1602 |
N/A |
INTRINSIC |
|
low complexity region
|
1672 |
1685 |
N/A |
INTRINSIC |
|
Pfam:CHDCT2
|
1754 |
1926 |
8.6e-104 |
PFAM |
|
low complexity region
|
1935 |
1967 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108661
AA Change: D2054G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104301
Gene: ENSMUSG00000018474
AA Change: D2054G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
5 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
180 |
N/A |
INTRINSIC |
|
Pfam:CHDNT
|
200 |
253 |
4.3e-29 |
PFAM |
|
low complexity region
|
257 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
360 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
414 |
N/A |
INTRINSIC |
|
PHD
|
434 |
477 |
1.54e-14 |
SMART |
|
RING
|
435 |
476 |
4.25e-1 |
SMART |
|
PHD
|
510 |
553 |
1.74e-13 |
SMART |
|
RING
|
511 |
552 |
3.93e0 |
SMART |
|
CHROMO
|
558 |
637 |
7.23e-14 |
SMART |
|
CHROMO
|
681 |
730 |
2.85e-12 |
SMART |
|
low complexity region
|
749 |
755 |
N/A |
INTRINSIC |
|
DEXDc
|
784 |
996 |
1.64e-31 |
SMART |
|
low complexity region
|
1107 |
1125 |
N/A |
INTRINSIC |
|
HELICc
|
1142 |
1226 |
2.61e-25 |
SMART |
|
low complexity region
|
1290 |
1303 |
N/A |
INTRINSIC |
|
DUF1087
|
1345 |
1409 |
2.98e-33 |
SMART |
|
DUF1086
|
1415 |
1571 |
1.79e-109 |
SMART |
|
low complexity region
|
1573 |
1602 |
N/A |
INTRINSIC |
|
low complexity region
|
1672 |
1685 |
N/A |
INTRINSIC |
|
Pfam:CHDCT2
|
1789 |
1960 |
4.9e-93 |
PFAM |
|
low complexity region
|
1969 |
2001 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122992
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128981
|
| SMART Domains |
Protein: ENSMUSP00000122137
Gene: ENSMUSG00000018474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
87 |
N/A |
INTRINSIC |
|
Pfam:CHDNT
|
107 |
160 |
3.9e-29 |
PFAM |
|
low complexity region
|
164 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
321 |
N/A |
INTRINSIC |
|
PHD
|
341 |
384 |
1.54e-14 |
SMART |
|
RING
|
342 |
383 |
4.25e-1 |
SMART |
|
PHD
|
417 |
460 |
1.74e-13 |
SMART |
|
RING
|
418 |
459 |
3.93e0 |
SMART |
|
CHROMO
|
465 |
544 |
7.23e-14 |
SMART |
|
CHROMO
|
588 |
637 |
2.85e-12 |
SMART |
|
low complexity region
|
656 |
662 |
N/A |
INTRINSIC |
|
DEXDc
|
691 |
903 |
1.64e-31 |
SMART |
|
low complexity region
|
1014 |
1032 |
N/A |
INTRINSIC |
|
HELICc
|
1049 |
1133 |
2.61e-25 |
SMART |
|
low complexity region
|
1197 |
1210 |
N/A |
INTRINSIC |
|
DUF1087
|
1252 |
1316 |
2.98e-33 |
SMART |
|
DUF1086
|
1322 |
1478 |
1.79e-109 |
SMART |
|
low complexity region
|
1480 |
1509 |
N/A |
INTRINSIC |
|
low complexity region
|
1579 |
1592 |
N/A |
INTRINSIC |
|
Pfam:CHDCT2
|
1662 |
1833 |
4.4e-93 |
PFAM |
|
low complexity region
|
1842 |
1874 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129321
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218008
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 147 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
G |
7: 12,288,625 (GRCm39) |
E146G |
probably benign |
Het |
| Abca4 |
G |
A |
3: 121,950,081 (GRCm39) |
G594S |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,338,362 (GRCm39) |
Y726H |
probably damaging |
Het |
| Adam20 |
T |
A |
8: 41,248,517 (GRCm39) |
M209K |
probably benign |
Het |
| Adam29 |
A |
G |
8: 56,326,310 (GRCm39) |
V48A |
probably damaging |
Het |
| Adss2 |
A |
G |
1: 177,595,253 (GRCm39) |
V429A |
possibly damaging |
Het |
| Aff1 |
T |
C |
5: 103,976,320 (GRCm39) |
S481P |
probably damaging |
Het |
| Akr1c19 |
G |
A |
13: 4,288,459 (GRCm39) |
A146T |
probably benign |
Het |
| Ankhd1 |
G |
T |
18: 36,773,333 (GRCm39) |
V59F |
probably damaging |
Het |
| Ankmy1 |
T |
G |
1: 92,816,397 (GRCm39) |
Y239S |
probably damaging |
Het |
| Ankrd24 |
G |
T |
10: 81,474,142 (GRCm39) |
C19F |
probably damaging |
Het |
| Apaf1 |
T |
C |
10: 90,845,065 (GRCm39) |
H1002R |
probably damaging |
Het |
| Apc2 |
T |
C |
10: 80,149,935 (GRCm39) |
I1663T |
probably benign |
Het |
| Apcdd1 |
A |
G |
18: 63,084,967 (GRCm39) |
N388S |
possibly damaging |
Het |
| Arap2 |
G |
A |
5: 62,763,474 (GRCm39) |
P1557S |
possibly damaging |
Het |
| Armc2 |
T |
A |
10: 41,798,691 (GRCm39) |
H706L |
probably benign |
Het |
| Arrb1 |
T |
C |
7: 99,237,403 (GRCm39) |
|
probably null |
Het |
| Atl3 |
T |
C |
19: 7,507,031 (GRCm39) |
|
probably null |
Het |
| B9d2 |
A |
G |
7: 25,382,757 (GRCm39) |
T44A |
probably damaging |
Het |
| Btbd3 |
C |
T |
2: 138,125,736 (GRCm39) |
R307W |
possibly damaging |
Het |
| C1galt1 |
T |
C |
6: 7,871,193 (GRCm39) |
I343T |
probably benign |
Het |
| Cacna1a |
A |
G |
8: 85,356,460 (GRCm39) |
D1901G |
probably damaging |
Het |
| Ccdc42 |
C |
T |
11: 68,488,536 (GRCm39) |
Q312* |
probably null |
Het |
| Cdh18 |
T |
C |
15: 23,410,876 (GRCm39) |
Y454H |
probably benign |
Het |
| Celf5 |
G |
A |
10: 81,301,839 (GRCm39) |
T317I |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,311,211 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,414,660 (GRCm39) |
|
probably null |
Het |
| Cep350 |
T |
C |
1: 155,747,794 (GRCm39) |
D2042G |
probably damaging |
Het |
| Chgb |
A |
G |
2: 132,635,255 (GRCm39) |
H399R |
probably benign |
Het |
| Clp1 |
C |
T |
2: 84,555,935 (GRCm39) |
A182T |
possibly damaging |
Het |
| Col15a1 |
A |
G |
4: 47,282,654 (GRCm39) |
N777S |
probably damaging |
Het |
| Coq6 |
A |
G |
12: 84,415,412 (GRCm39) |
D145G |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,172,108 (GRCm39) |
Y325C |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 76,879,413 (GRCm39) |
T824A |
probably benign |
Het |
| Cyp4x1 |
T |
A |
4: 114,970,023 (GRCm39) |
D368V |
probably damaging |
Het |
| D430041D05Rik |
C |
T |
2: 104,063,790 (GRCm39) |
R1354H |
probably damaging |
Het |
| D6Ertd527e |
A |
C |
6: 87,088,887 (GRCm39) |
D350A |
unknown |
Het |
| Ddx24 |
A |
G |
12: 103,385,326 (GRCm39) |
Y426H |
possibly damaging |
Het |
| Dexi |
G |
T |
16: 10,360,426 (GRCm39) |
Y43* |
probably null |
Het |
| Dgka |
A |
G |
10: 128,556,338 (GRCm39) |
|
probably null |
Het |
| Dhx38 |
A |
T |
8: 110,285,575 (GRCm39) |
D419E |
probably benign |
Het |
| Dlg1 |
G |
A |
16: 31,656,992 (GRCm39) |
V596I |
possibly damaging |
Het |
| Dlg1 |
C |
A |
16: 31,484,398 (GRCm39) |
Q9K |
probably benign |
Het |
| Dnah11 |
A |
C |
12: 118,046,246 (GRCm39) |
W1731G |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,369,995 (GRCm39) |
N4473K |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,051,480 (GRCm39) |
S3152A |
probably benign |
Het |
| Egfl7 |
C |
T |
2: 26,479,452 (GRCm39) |
T68I |
probably damaging |
Het |
| Eif2a |
G |
A |
3: 58,463,073 (GRCm39) |
|
probably null |
Het |
| Emb |
G |
A |
13: 117,369,286 (GRCm39) |
V56I |
possibly damaging |
Het |
| Enpp4 |
A |
T |
17: 44,410,386 (GRCm39) |
C397S |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,386,471 (GRCm39) |
T151A |
possibly damaging |
Het |
| Ero1b |
A |
G |
13: 12,589,747 (GRCm39) |
D50G |
probably damaging |
Het |
| Fam219a |
A |
G |
4: 41,520,242 (GRCm39) |
*169Q |
probably null |
Het |
| Fga |
G |
A |
3: 82,935,869 (GRCm39) |
G32E |
probably damaging |
Het |
| Fkbpl |
T |
C |
17: 34,864,333 (GRCm39) |
F34L |
probably benign |
Het |
| Fsd2 |
T |
A |
7: 81,194,765 (GRCm39) |
D466V |
probably damaging |
Het |
| Gja1 |
A |
G |
10: 56,264,166 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Gm5478 |
T |
A |
15: 101,553,059 (GRCm39) |
I338F |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,732,194 (GRCm39) |
Y1589F |
probably damaging |
Het |
| Grk3 |
C |
T |
5: 113,067,919 (GRCm39) |
E537K |
probably damaging |
Het |
| H2-K2 |
G |
T |
17: 34,218,474 (GRCm39) |
D127E |
probably damaging |
Het |
| Hcrtr2 |
A |
G |
9: 76,137,966 (GRCm39) |
L383P |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,514,651 (GRCm39) |
V3574M |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,197,921 (GRCm39) |
|
probably null |
Het |
| Il1r2 |
A |
G |
1: 40,144,615 (GRCm39) |
K101E |
probably benign |
Het |
| Itga11 |
A |
T |
9: 62,681,653 (GRCm39) |
H1054L |
probably benign |
Het |
| Kif13a |
A |
T |
13: 46,956,187 (GRCm39) |
V539D |
probably damaging |
Het |
| Kifc1 |
G |
A |
17: 34,105,621 (GRCm39) |
T62I |
probably damaging |
Het |
| Klhl28 |
A |
G |
12: 64,998,529 (GRCm39) |
Y322H |
probably damaging |
Het |
| Klhl6 |
C |
A |
16: 19,775,764 (GRCm39) |
D265Y |
possibly damaging |
Het |
| Krt86 |
T |
A |
15: 101,377,412 (GRCm39) |
C479S |
unknown |
Het |
| Lama2 |
C |
T |
10: 27,065,127 (GRCm39) |
R1179H |
probably benign |
Het |
| Lce6a |
A |
T |
3: 92,527,635 (GRCm39) |
H57Q |
probably benign |
Het |
| Lcn11 |
T |
C |
2: 25,669,305 (GRCm39) |
V154A |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,758,816 (GRCm39) |
F843I |
probably damaging |
Het |
| Lrrc49 |
C |
T |
9: 60,573,640 (GRCm39) |
V281I |
probably benign |
Het |
| Lrrtm1 |
C |
A |
6: 77,221,611 (GRCm39) |
A356E |
probably damaging |
Het |
| Map3k1 |
A |
C |
13: 111,900,044 (GRCm39) |
H493Q |
probably benign |
Het |
| Mcm4 |
A |
T |
16: 15,449,979 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
C |
T |
4: 32,712,014 (GRCm39) |
P1844L |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,732,829 (GRCm39) |
D3076E |
probably benign |
Het |
| Med6 |
A |
T |
12: 81,635,798 (GRCm39) |
L27H |
probably damaging |
Het |
| Mrtfb |
A |
G |
16: 13,199,465 (GRCm39) |
E106G |
probably damaging |
Het |
| Myo7a |
T |
A |
7: 97,721,153 (GRCm39) |
T1271S |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,829,076 (GRCm39) |
M2376K |
probably benign |
Het |
| Nell2 |
G |
A |
15: 95,127,095 (GRCm39) |
T760I |
probably benign |
Het |
| Neurod6 |
C |
T |
6: 55,656,572 (GRCm39) |
A22T |
probably benign |
Het |
| Nlrp10 |
T |
C |
7: 108,523,492 (GRCm39) |
K663E |
probably benign |
Het |
| Nopchap1 |
T |
C |
10: 83,197,961 (GRCm39) |
S56P |
probably benign |
Het |
| Npr3 |
T |
A |
15: 11,845,368 (GRCm39) |
K501N |
probably benign |
Het |
| Nr2f2 |
C |
A |
7: 70,004,460 (GRCm39) |
R264L |
probably damaging |
Het |
| Nup35 |
T |
A |
2: 80,472,984 (GRCm39) |
M19K |
probably benign |
Het |
| Oacyl |
A |
T |
18: 65,880,962 (GRCm39) |
Q592L |
possibly damaging |
Het |
| Or10a4 |
T |
A |
7: 106,696,933 (GRCm39) |
I87K |
probably benign |
Het |
| Or1ad6 |
C |
A |
11: 50,860,670 (GRCm39) |
A275D |
possibly damaging |
Het |
| Or2v1 |
C |
G |
11: 49,025,549 (GRCm39) |
H177D |
probably damaging |
Het |
| Or4a71 |
A |
G |
2: 89,358,451 (GRCm39) |
V101A |
possibly damaging |
Het |
| Or5af1 |
T |
A |
11: 58,722,798 (GRCm39) |
S273T |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5b122 |
T |
A |
19: 13,563,534 (GRCm39) |
Y289N |
probably damaging |
Het |
| Or5p51 |
A |
G |
7: 107,444,776 (GRCm39) |
S55P |
probably damaging |
Het |
| Or6c76b |
T |
G |
10: 129,693,070 (GRCm39) |
S228A |
possibly damaging |
Het |
| Or8k25 |
T |
A |
2: 86,243,514 (GRCm39) |
N294I |
probably damaging |
Het |
| Or9k7 |
T |
C |
10: 130,046,939 (GRCm39) |
E20G |
probably benign |
Het |
| Patl2 |
T |
C |
2: 121,957,150 (GRCm39) |
Y128C |
probably benign |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,942 (GRCm39) |
I641V |
probably benign |
Het |
| Polr2b |
T |
C |
5: 77,461,006 (GRCm39) |
|
probably benign |
Het |
| Pot1b |
A |
T |
17: 55,972,765 (GRCm39) |
I469N |
probably damaging |
Het |
| Prdm11 |
G |
T |
2: 92,844,130 (GRCm39) |
D33E |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,589,921 (GRCm39) |
S2595G |
probably damaging |
Het |
| Prrc1 |
G |
A |
18: 57,507,622 (GRCm39) |
V259I |
possibly damaging |
Het |
| Prrc2b |
G |
T |
2: 32,103,882 (GRCm39) |
R1120L |
probably damaging |
Het |
| Prss38 |
T |
C |
11: 59,266,369 (GRCm39) |
S30G |
possibly damaging |
Het |
| Raph1 |
A |
T |
1: 60,565,028 (GRCm39) |
L153Q |
probably damaging |
Het |
| Reck |
A |
G |
4: 43,940,719 (GRCm39) |
T843A |
probably benign |
Het |
| Rgs7bp |
T |
C |
13: 105,103,610 (GRCm39) |
N164D |
probably benign |
Het |
| Rpusd4 |
C |
A |
9: 35,179,289 (GRCm39) |
A35D |
possibly damaging |
Het |
| Setd1b |
T |
C |
5: 123,298,014 (GRCm39) |
|
probably benign |
Het |
| Siglec15 |
G |
T |
18: 78,089,352 (GRCm39) |
D297E |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,834,656 (GRCm39) |
C13* |
probably null |
Het |
| Slc5a12 |
A |
G |
2: 110,463,088 (GRCm39) |
M395V |
probably benign |
Het |
| Sohlh2 |
C |
A |
3: 55,115,104 (GRCm39) |
S363Y |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,700,080 (GRCm39) |
V966E |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,940,462 (GRCm39) |
P266L |
probably damaging |
Het |
| Stxbp5l |
G |
A |
16: 36,962,794 (GRCm39) |
H754Y |
probably benign |
Het |
| Synpo2l |
A |
T |
14: 20,710,748 (GRCm39) |
M624K |
probably damaging |
Het |
| Tas2r136 |
T |
C |
6: 132,754,375 (GRCm39) |
I251V |
probably benign |
Het |
| Tecpr1 |
C |
T |
5: 144,149,408 (GRCm39) |
V340M |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,299,501 (GRCm39) |
G196S |
probably damaging |
Het |
| Tex55 |
A |
C |
16: 38,648,726 (GRCm39) |
S128A |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,331,541 (GRCm39) |
|
probably null |
Het |
| Timeless |
T |
C |
10: 128,082,203 (GRCm39) |
V577A |
probably benign |
Het |
| Tln1 |
A |
T |
4: 43,553,071 (GRCm39) |
V340E |
probably damaging |
Het |
| Tmem132c |
T |
A |
5: 127,640,617 (GRCm39) |
Y929* |
probably null |
Het |
| Tmprss7 |
C |
T |
16: 45,489,914 (GRCm39) |
R436Q |
probably damaging |
Het |
| Tnik |
A |
C |
3: 28,704,308 (GRCm39) |
K989T |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,890,892 (GRCm39) |
Y412N |
probably damaging |
Het |
| Trmt44 |
A |
G |
5: 35,726,103 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
C |
A |
19: 18,849,585 (GRCm39) |
T1704N |
probably benign |
Het |
| Tsc2 |
A |
T |
17: 24,840,686 (GRCm39) |
V391E |
probably damaging |
Het |
| Ttc22 |
T |
C |
4: 106,496,510 (GRCm39) |
V520A |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,257,644 (GRCm39) |
Y1650* |
probably null |
Het |
| Vmn2r24 |
A |
G |
6: 123,763,893 (GRCm39) |
T257A |
probably benign |
Het |
| Xab2 |
A |
C |
8: 3,663,605 (GRCm39) |
N408K |
probably benign |
Het |
| Zbtb42 |
A |
T |
12: 112,647,061 (GRCm39) |
Y412F |
probably benign |
Het |
| Zfp282 |
A |
G |
6: 47,857,303 (GRCm39) |
N179D |
probably damaging |
Het |
| Zfp62 |
C |
A |
11: 49,106,227 (GRCm39) |
T106K |
probably benign |
Het |
|
| Other mutations in Chd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00478:Chd3
|
APN |
11 |
69,247,888 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00551:Chd3
|
APN |
11 |
69,237,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00661:Chd3
|
APN |
11 |
69,248,209 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL00698:Chd3
|
APN |
11 |
69,240,697 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01075:Chd3
|
APN |
11 |
69,250,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01309:Chd3
|
APN |
11 |
69,248,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01317:Chd3
|
APN |
11 |
69,244,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01374:Chd3
|
APN |
11 |
69,250,806 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01444:Chd3
|
APN |
11 |
69,239,568 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01617:Chd3
|
APN |
11 |
69,249,060 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01635:Chd3
|
APN |
11 |
69,252,076 (GRCm39) |
splice site |
probably benign |
|
|
IGL01942:Chd3
|
APN |
11 |
69,240,931 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01962:Chd3
|
APN |
11 |
69,248,319 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01981:Chd3
|
APN |
11 |
69,251,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02022:Chd3
|
APN |
11 |
69,251,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02098:Chd3
|
APN |
11 |
69,250,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02218:Chd3
|
APN |
11 |
69,242,920 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02415:Chd3
|
APN |
11 |
69,239,739 (GRCm39) |
splice site |
probably benign |
|
|
IGL02648:Chd3
|
APN |
11 |
69,242,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02951:Chd3
|
APN |
11 |
69,251,874 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03030:Chd3
|
APN |
11 |
69,245,230 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03102:Chd3
|
APN |
11 |
69,252,022 (GRCm39) |
nonsense |
probably null |
|
|
IGL03168:Chd3
|
APN |
11 |
69,239,741 (GRCm39) |
splice site |
probably benign |
|
|
IGL03327:Chd3
|
APN |
11 |
69,241,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
burg
|
UTSW |
11 |
69,247,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
castello
|
UTSW |
11 |
69,246,648 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
feste
|
UTSW |
11 |
69,245,252 (GRCm39) |
nonsense |
probably null |
|
|
Fortress
|
UTSW |
11 |
69,254,876 (GRCm39) |
nonsense |
probably null |
|
|
moat
|
UTSW |
11 |
69,250,011 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Redoubt
|
UTSW |
11 |
69,244,727 (GRCm39) |
unclassified |
probably benign |
|
|
schloss
|
UTSW |
11 |
69,252,886 (GRCm39) |
nonsense |
probably null |
|
|
siege
|
UTSW |
11 |
69,247,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Chd3
|
UTSW |
11 |
69,240,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0009:Chd3
|
UTSW |
11 |
69,240,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0056:Chd3
|
UTSW |
11 |
69,250,739 (GRCm39) |
unclassified |
probably benign |
|
|
R0129:Chd3
|
UTSW |
11 |
69,239,327 (GRCm39) |
nonsense |
probably null |
|
|
R0130:Chd3
|
UTSW |
11 |
69,250,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Chd3
|
UTSW |
11 |
69,247,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Chd3
|
UTSW |
11 |
69,247,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0449:Chd3
|
UTSW |
11 |
69,248,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0502:Chd3
|
UTSW |
11 |
69,244,931 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0540:Chd3
|
UTSW |
11 |
69,235,184 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0571:Chd3
|
UTSW |
11 |
69,252,495 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0616:Chd3
|
UTSW |
11 |
69,236,313 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0630:Chd3
|
UTSW |
11 |
69,238,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:Chd3
|
UTSW |
11 |
69,248,400 (GRCm39) |
splice site |
probably null |
|
|
R1484:Chd3
|
UTSW |
11 |
69,250,725 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1741:Chd3
|
UTSW |
11 |
69,246,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Chd3
|
UTSW |
11 |
69,255,523 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1751:Chd3
|
UTSW |
11 |
69,244,727 (GRCm39) |
unclassified |
probably benign |
|
|
R1833:Chd3
|
UTSW |
11 |
69,244,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Chd3
|
UTSW |
11 |
69,239,878 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2101:Chd3
|
UTSW |
11 |
69,239,877 (GRCm39) |
missense |
probably benign |
|
|
R2147:Chd3
|
UTSW |
11 |
69,239,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2513:Chd3
|
UTSW |
11 |
69,251,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2877:Chd3
|
UTSW |
11 |
69,251,998 (GRCm39) |
nonsense |
probably null |
|
|
R2879:Chd3
|
UTSW |
11 |
69,254,924 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2880:Chd3
|
UTSW |
11 |
69,242,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2881:Chd3
|
UTSW |
11 |
69,242,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2973:Chd3
|
UTSW |
11 |
69,251,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3611:Chd3
|
UTSW |
11 |
69,252,973 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3743:Chd3
|
UTSW |
11 |
69,254,876 (GRCm39) |
nonsense |
probably null |
|
|
R3845:Chd3
|
UTSW |
11 |
69,237,585 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3889:Chd3
|
UTSW |
11 |
69,250,011 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4007:Chd3
|
UTSW |
11 |
69,239,827 (GRCm39) |
missense |
probably benign |
|
|
R4115:Chd3
|
UTSW |
11 |
69,248,343 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4515:Chd3
|
UTSW |
11 |
69,240,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4612:Chd3
|
UTSW |
11 |
69,244,035 (GRCm39) |
nonsense |
probably null |
|
|
R4622:Chd3
|
UTSW |
11 |
69,239,834 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4634:Chd3
|
UTSW |
11 |
69,253,013 (GRCm39) |
unclassified |
probably benign |
|
|
R4635:Chd3
|
UTSW |
11 |
69,253,013 (GRCm39) |
unclassified |
probably benign |
|
|
R4859:Chd3
|
UTSW |
11 |
69,250,722 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4930:Chd3
|
UTSW |
11 |
69,245,034 (GRCm39) |
unclassified |
probably benign |
|
|
R5173:Chd3
|
UTSW |
11 |
69,260,069 (GRCm39) |
unclassified |
probably benign |
|
|
R5287:Chd3
|
UTSW |
11 |
69,239,895 (GRCm39) |
splice site |
probably null |
|
|
R5403:Chd3
|
UTSW |
11 |
69,239,895 (GRCm39) |
splice site |
probably null |
|
|
R5511:Chd3
|
UTSW |
11 |
69,252,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5666:Chd3
|
UTSW |
11 |
69,244,177 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5702:Chd3
|
UTSW |
11 |
69,252,261 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6045:Chd3
|
UTSW |
11 |
69,242,944 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6063:Chd3
|
UTSW |
11 |
69,240,063 (GRCm39) |
missense |
probably benign |
|
|
R6211:Chd3
|
UTSW |
11 |
69,243,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6215:Chd3
|
UTSW |
11 |
69,247,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6217:Chd3
|
UTSW |
11 |
69,236,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6302:Chd3
|
UTSW |
11 |
69,244,604 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6329:Chd3
|
UTSW |
11 |
69,252,510 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6349:Chd3
|
UTSW |
11 |
69,254,857 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6414:Chd3
|
UTSW |
11 |
69,243,371 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6453:Chd3
|
UTSW |
11 |
69,240,938 (GRCm39) |
nonsense |
probably null |
|
|
R6548:Chd3
|
UTSW |
11 |
69,252,886 (GRCm39) |
nonsense |
probably null |
|
|
R6582:Chd3
|
UTSW |
11 |
69,259,982 (GRCm39) |
unclassified |
probably benign |
|
|
R6721:Chd3
|
UTSW |
11 |
69,260,045 (GRCm39) |
unclassified |
probably benign |
|
|
R6776:Chd3
|
UTSW |
11 |
69,245,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6900:Chd3
|
UTSW |
11 |
69,245,271 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7085:Chd3
|
UTSW |
11 |
69,260,027 (GRCm39) |
missense |
unknown |
|
|
R7136:Chd3
|
UTSW |
11 |
69,239,264 (GRCm39) |
missense |
probably null |
0.37 |
|
R7164:Chd3
|
UTSW |
11 |
69,253,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7200:Chd3
|
UTSW |
11 |
69,254,921 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7226:Chd3
|
UTSW |
11 |
69,260,037 (GRCm39) |
missense |
unknown |
|
|
R7238:Chd3
|
UTSW |
11 |
69,254,873 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7316:Chd3
|
UTSW |
11 |
69,236,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7560:Chd3
|
UTSW |
11 |
69,247,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7684:Chd3
|
UTSW |
11 |
69,248,692 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7748:Chd3
|
UTSW |
11 |
69,246,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7820:Chd3
|
UTSW |
11 |
69,244,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7885:Chd3
|
UTSW |
11 |
69,247,451 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8150:Chd3
|
UTSW |
11 |
69,254,510 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8161:Chd3
|
UTSW |
11 |
69,241,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8271:Chd3
|
UTSW |
11 |
69,251,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8334:Chd3
|
UTSW |
11 |
69,241,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8423:Chd3
|
UTSW |
11 |
69,245,252 (GRCm39) |
nonsense |
probably null |
|
|
R8690:Chd3
|
UTSW |
11 |
69,246,648 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8828:Chd3
|
UTSW |
11 |
69,247,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:Chd3
|
UTSW |
11 |
69,253,146 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9124:Chd3
|
UTSW |
11 |
69,260,162 (GRCm39) |
missense |
unknown |
|
|
R9170:Chd3
|
UTSW |
11 |
69,241,648 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9213:Chd3
|
UTSW |
11 |
69,255,628 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9285:Chd3
|
UTSW |
11 |
69,249,954 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9293:Chd3
|
UTSW |
11 |
69,244,027 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9368:Chd3
|
UTSW |
11 |
69,251,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9521:Chd3
|
UTSW |
11 |
69,249,133 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9544:Chd3
|
UTSW |
11 |
69,241,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9554:Chd3
|
UTSW |
11 |
69,251,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9588:Chd3
|
UTSW |
11 |
69,241,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Chd3
|
UTSW |
11 |
69,247,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Chd3
|
UTSW |
11 |
69,245,271 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
Z1186:Chd3
|
UTSW |
11 |
69,252,277 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Chd3
|
UTSW |
11 |
69,239,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Chd3
|
UTSW |
11 |
69,252,277 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Chd3
|
UTSW |
11 |
69,239,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Chd3
|
UTSW |
11 |
69,252,277 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Chd3
|
UTSW |
11 |
69,239,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Chd3
|
UTSW |
11 |
69,252,277 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Chd3
|
UTSW |
11 |
69,239,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Chd3
|
UTSW |
11 |
69,252,277 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Chd3
|
UTSW |
11 |
69,239,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Chd3
|
UTSW |
11 |
69,252,277 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Chd3
|
UTSW |
11 |
69,239,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Chd3
|
UTSW |
11 |
69,252,277 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Chd3
|
UTSW |
11 |
69,239,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACACCAGCACAGTCTTCAAGG -3'
(R):5'- TGGTTTCATATCGCCCACTTGAGC -3'
Sequencing Primer
(F):5'- CACAGTCTTCAAGGTTTGGTG -3'
(R):5'- CCTGTCACATCTTGGTACAAGAGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation