Incidental Mutation 'R1983:Chd5'
| ID |
220122 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd5
|
| Ensembl Gene |
ENSMUSG00000005045 |
| Gene Name |
chromodomain helicase DNA binding protein 5 |
| Synonyms |
B230399N07Rik, 4930532L22Rik |
| MMRRC Submission |
039995-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1983 (G1)
|
| Quality Score |
88 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152423108-152474651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 152469123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 1853
(A1853D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005175]
[ENSMUST00000030775]
[ENSMUST00000164662]
|
| AlphaFold |
A2A8L1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005175
AA Change: A1853D
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000005175
Gene: ENSMUSG00000005045
AA Change: A1853D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
coiled coil region
|
96 |
126 |
N/A |
INTRINSIC |
|
Pfam:CHDNT
|
149 |
203 |
2e-32 |
PFAM |
|
low complexity region
|
209 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
PHD
|
347 |
390 |
1.09e-14 |
SMART |
|
RING
|
348 |
389 |
4.48e-1 |
SMART |
|
low complexity region
|
400 |
416 |
N/A |
INTRINSIC |
|
PHD
|
420 |
463 |
3.29e-14 |
SMART |
|
RING
|
421 |
462 |
4.15e0 |
SMART |
|
CHROMO
|
468 |
548 |
2.52e-13 |
SMART |
|
CHROMO
|
592 |
649 |
1.34e-8 |
SMART |
|
low complexity region
|
657 |
678 |
N/A |
INTRINSIC |
|
DEXDc
|
698 |
910 |
8.34e-33 |
SMART |
|
low complexity region
|
1023 |
1038 |
N/A |
INTRINSIC |
|
HELICc
|
1056 |
1140 |
4.02e-26 |
SMART |
|
DUF1087
|
1297 |
1361 |
2.78e-33 |
SMART |
|
DUF1086
|
1374 |
1533 |
5.11e-105 |
SMART |
|
low complexity region
|
1552 |
1567 |
N/A |
INTRINSIC |
|
low complexity region
|
1685 |
1701 |
N/A |
INTRINSIC |
|
Pfam:CHDCT2
|
1729 |
1901 |
1.7e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030775
AA Change: A1853D
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000030775
Gene: ENSMUSG00000005045
AA Change: A1853D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
coiled coil region
|
96 |
126 |
N/A |
INTRINSIC |
|
Pfam:CHDNT
|
150 |
203 |
9e-28 |
PFAM |
|
low complexity region
|
209 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
PHD
|
347 |
390 |
1.09e-14 |
SMART |
|
RING
|
348 |
389 |
4.48e-1 |
SMART |
|
low complexity region
|
400 |
416 |
N/A |
INTRINSIC |
|
PHD
|
420 |
463 |
3.29e-14 |
SMART |
|
RING
|
421 |
462 |
4.15e0 |
SMART |
|
CHROMO
|
468 |
548 |
2.52e-13 |
SMART |
|
CHROMO
|
592 |
649 |
1.34e-8 |
SMART |
|
low complexity region
|
657 |
678 |
N/A |
INTRINSIC |
|
DEXDc
|
698 |
910 |
8.34e-33 |
SMART |
|
low complexity region
|
1023 |
1038 |
N/A |
INTRINSIC |
|
HELICc
|
1056 |
1140 |
4.02e-26 |
SMART |
|
DUF1087
|
1297 |
1361 |
2.78e-33 |
SMART |
|
DUF1086
|
1374 |
1533 |
5.11e-105 |
SMART |
|
low complexity region
|
1552 |
1567 |
N/A |
INTRINSIC |
|
low complexity region
|
1685 |
1701 |
N/A |
INTRINSIC |
|
Pfam:CHDCT2
|
1730 |
1901 |
2.8e-93 |
PFAM |
|
low complexity region
|
1922 |
1936 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124423
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164662
AA Change: A1816D
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132600
Gene: ENSMUSG00000005045
AA Change: A1816D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
coiled coil region
|
96 |
126 |
N/A |
INTRINSIC |
|
Pfam:CHDNT
|
149 |
203 |
1.9e-32 |
PFAM |
|
low complexity region
|
209 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
PHD
|
347 |
390 |
1.09e-14 |
SMART |
|
RING
|
348 |
389 |
4.48e-1 |
SMART |
|
low complexity region
|
400 |
416 |
N/A |
INTRINSIC |
|
PHD
|
420 |
463 |
3.29e-14 |
SMART |
|
RING
|
421 |
462 |
4.15e0 |
SMART |
|
CHROMO
|
468 |
548 |
2.52e-13 |
SMART |
|
CHROMO
|
592 |
649 |
1.34e-8 |
SMART |
|
low complexity region
|
657 |
678 |
N/A |
INTRINSIC |
|
DEXDc
|
698 |
910 |
8.34e-33 |
SMART |
|
low complexity region
|
1023 |
1038 |
N/A |
INTRINSIC |
|
HELICc
|
1056 |
1140 |
4.02e-26 |
SMART |
|
DUF1087
|
1260 |
1324 |
2.78e-33 |
SMART |
|
DUF1086
|
1337 |
1496 |
5.11e-105 |
SMART |
|
low complexity region
|
1515 |
1530 |
N/A |
INTRINSIC |
|
low complexity region
|
1648 |
1664 |
N/A |
INTRINSIC |
|
Pfam:CHDCT2
|
1692 |
1864 |
1.7e-99 |
PFAM |
|
low complexity region
|
1885 |
1899 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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 chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
T |
A |
17: 15,164,272 (GRCm39) |
V133E |
probably damaging |
Het |
| Aco1 |
G |
A |
4: 40,175,845 (GRCm39) |
G160S |
probably benign |
Het |
| Actn2 |
C |
T |
13: 12,293,696 (GRCm39) |
R608H |
probably benign |
Het |
| Adora2a |
A |
C |
10: 75,169,480 (GRCm39) |
S315R |
probably benign |
Het |
| Arhgap42 |
T |
C |
9: 9,017,018 (GRCm39) |
Y382C |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atg4c |
A |
G |
4: 99,116,812 (GRCm39) |
Y318C |
probably damaging |
Het |
| Baz2a |
C |
T |
10: 127,959,828 (GRCm39) |
T1408I |
probably benign |
Het |
| Bbx |
T |
A |
16: 50,029,480 (GRCm39) |
Q663L |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 36,942,014 (GRCm39) |
D273G |
probably null |
Het |
| Btbd3 |
T |
G |
2: 138,125,608 (GRCm39) |
L264R |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,662,194 (GRCm39) |
I391T |
probably damaging |
Het |
| Chadl |
T |
C |
15: 81,578,097 (GRCm39) |
I45V |
probably benign |
Het |
| Cmas |
G |
T |
6: 142,716,312 (GRCm39) |
D251Y |
probably damaging |
Het |
| Cyp2d10 |
A |
G |
15: 82,290,200 (GRCm39) |
M90T |
probably benign |
Het |
| D630003M21Rik |
A |
G |
2: 158,050,341 (GRCm39) |
F714L |
probably benign |
Het |
| Dguok |
A |
T |
6: 83,464,110 (GRCm39) |
Y126* |
probably null |
Het |
| Dnai1 |
A |
G |
4: 41,603,232 (GRCm39) |
K172E |
probably benign |
Het |
| Dnai2 |
T |
A |
11: 114,626,682 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
A |
T |
15: 83,777,163 (GRCm39) |
|
probably benign |
Het |
| Eln |
A |
T |
5: 134,765,194 (GRCm39) |
|
probably null |
Het |
| Epor |
T |
C |
9: 21,870,696 (GRCm39) |
T395A |
probably benign |
Het |
| Evc2 |
G |
T |
5: 37,573,275 (GRCm39) |
E996* |
probably null |
Het |
| Fam124b |
T |
A |
1: 80,191,364 (GRCm39) |
E6D |
probably benign |
Het |
| Filip1 |
T |
A |
9: 79,767,374 (GRCm39) |
K146N |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,391,637 (GRCm39) |
S742P |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,810,175 (GRCm39) |
V2165L |
probably benign |
Het |
| Gcdh |
A |
T |
8: 85,617,539 (GRCm39) |
V227E |
possibly damaging |
Het |
| Gm12185 |
T |
C |
11: 48,806,183 (GRCm39) |
N336S |
probably benign |
Het |
| Gm12695 |
G |
T |
4: 96,627,214 (GRCm39) |
A399E |
possibly damaging |
Het |
| Gm16503 |
T |
A |
4: 147,625,749 (GRCm39) |
V81E |
unknown |
Het |
| Gpr137c |
T |
C |
14: 45,517,428 (GRCm39) |
V388A |
probably benign |
Het |
| Hgf |
A |
G |
5: 16,766,010 (GRCm39) |
T49A |
possibly damaging |
Het |
| Hspa1a |
G |
T |
17: 35,189,938 (GRCm39) |
R322S |
probably benign |
Het |
| Jak3 |
A |
T |
8: 72,131,019 (GRCm39) |
Q13L |
possibly damaging |
Het |
| Jak3 |
A |
G |
8: 72,140,780 (GRCm39) |
R1098G |
probably benign |
Het |
| Kif11 |
C |
T |
19: 37,379,224 (GRCm39) |
T305I |
possibly damaging |
Het |
| Lcor |
T |
A |
19: 41,546,806 (GRCm39) |
V130E |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,401,416 (GRCm39) |
|
probably null |
Het |
| Mdga1 |
G |
A |
17: 30,069,579 (GRCm39) |
R430C |
probably damaging |
Het |
| Mfsd12 |
T |
A |
10: 81,198,090 (GRCm39) |
|
probably null |
Het |
| Mmp27 |
T |
A |
9: 7,578,898 (GRCm39) |
|
probably null |
Het |
| Mtnr1a |
A |
T |
8: 45,540,471 (GRCm39) |
N144I |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,383,407 (GRCm39) |
T3563A |
probably damaging |
Het |
| Myef2 |
T |
A |
2: 124,940,765 (GRCm39) |
M355L |
probably benign |
Het |
| Or4a39 |
A |
G |
2: 89,236,770 (GRCm39) |
F218L |
probably benign |
Het |
| Or5b104 |
A |
G |
19: 13,072,748 (GRCm39) |
I88T |
probably benign |
Het |
| Or5p51 |
C |
T |
7: 107,444,619 (GRCm39) |
G107D |
probably benign |
Het |
| Or8k27 |
T |
A |
2: 86,275,420 (GRCm39) |
H302L |
probably benign |
Het |
| Parg |
A |
G |
14: 31,939,653 (GRCm39) |
K560E |
probably damaging |
Het |
| Pck2 |
G |
A |
14: 55,781,525 (GRCm39) |
|
probably null |
Het |
| Pdcd6 |
T |
C |
13: 74,452,119 (GRCm39) |
I174V |
probably benign |
Het |
| Pomgnt1 |
T |
C |
4: 116,009,066 (GRCm39) |
L57S |
probably damaging |
Het |
| Pomgnt1 |
C |
A |
4: 116,009,117 (GRCm39) |
P74Q |
probably benign |
Het |
| Prdm4 |
T |
C |
10: 85,743,817 (GRCm39) |
Y146C |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 16,998,006 (GRCm39) |
M248V |
probably damaging |
Het |
| Ric8b |
T |
A |
10: 84,837,702 (GRCm39) |
M503K |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,444 (GRCm39) |
V871M |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,758,897 (GRCm39) |
N3427S |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,600,288 (GRCm39) |
|
probably null |
Het |
| Scimp |
C |
T |
11: 70,691,540 (GRCm39) |
V30I |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 112,003,689 (GRCm39) |
E374G |
probably benign |
Het |
| Slc6a20a |
A |
G |
9: 123,469,652 (GRCm39) |
Y482H |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,917,821 (GRCm39) |
S482G |
probably benign |
Het |
| Spopfm2 |
T |
G |
3: 94,083,601 (GRCm39) |
D70A |
possibly damaging |
Het |
| Strc |
T |
A |
2: 121,201,518 (GRCm39) |
M1229L |
possibly damaging |
Het |
| Tasor2 |
G |
T |
13: 3,624,853 (GRCm39) |
T1699K |
possibly damaging |
Het |
| Terf2 |
T |
C |
8: 107,809,640 (GRCm39) |
Y226C |
probably damaging |
Het |
| Tex10 |
A |
T |
4: 48,460,059 (GRCm39) |
L431I |
possibly damaging |
Het |
| Tnc |
A |
G |
4: 63,902,867 (GRCm39) |
V1470A |
possibly damaging |
Het |
| Ttll13 |
T |
C |
7: 79,903,364 (GRCm39) |
I248T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,619,369 (GRCm39) |
N16031S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,587,104 (GRCm39) |
K21631M |
probably damaging |
Het |
| Uroc1 |
A |
T |
6: 90,322,351 (GRCm39) |
S292C |
probably damaging |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,588 (GRCm39) |
M233L |
probably benign |
Het |
| Wdr31 |
A |
T |
4: 62,378,840 (GRCm39) |
M129K |
probably damaging |
Het |
| Wnk1 |
A |
T |
6: 119,914,539 (GRCm39) |
N1754K |
probably damaging |
Het |
| Xirp1 |
G |
A |
9: 119,845,695 (GRCm39) |
Q1063* |
probably null |
Het |
| Zfp799 |
C |
A |
17: 33,041,084 (GRCm39) |
V32L |
probably damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,546,386 (GRCm39) |
D874E |
possibly damaging |
Het |
|
| Other mutations in Chd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00537:Chd5
|
APN |
4 |
152,445,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00886:Chd5
|
APN |
4 |
152,444,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00963:Chd5
|
APN |
4 |
152,467,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01399:Chd5
|
APN |
4 |
152,441,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01571:Chd5
|
APN |
4 |
152,468,572 (GRCm39) |
splice site |
probably benign |
|
|
IGL01606:Chd5
|
APN |
4 |
152,445,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01636:Chd5
|
APN |
4 |
152,469,110 (GRCm39) |
nonsense |
probably null |
|
|
IGL02009:Chd5
|
APN |
4 |
152,450,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02417:Chd5
|
APN |
4 |
152,451,751 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02504:Chd5
|
APN |
4 |
152,447,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02508:Chd5
|
APN |
4 |
152,447,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02597:Chd5
|
APN |
4 |
152,456,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02608:Chd5
|
APN |
4 |
152,440,564 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02612:Chd5
|
APN |
4 |
152,445,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02658:Chd5
|
APN |
4 |
152,445,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02662:Chd5
|
APN |
4 |
152,456,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02676:Chd5
|
APN |
4 |
152,440,530 (GRCm39) |
splice site |
probably benign |
|
|
IGL02871:Chd5
|
APN |
4 |
152,461,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02942:Chd5
|
APN |
4 |
152,470,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02956:Chd5
|
APN |
4 |
152,464,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03286:Chd5
|
APN |
4 |
152,469,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03348:Chd5
|
APN |
4 |
152,461,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03398:Chd5
|
APN |
4 |
152,461,539 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT1430001:Chd5
|
UTSW |
4 |
152,455,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4151001:Chd5
|
UTSW |
4 |
152,462,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0079:Chd5
|
UTSW |
4 |
152,470,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Chd5
|
UTSW |
4 |
152,450,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Chd5
|
UTSW |
4 |
152,450,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Chd5
|
UTSW |
4 |
152,467,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0388:Chd5
|
UTSW |
4 |
152,456,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Chd5
|
UTSW |
4 |
152,470,407 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0730:Chd5
|
UTSW |
4 |
152,432,441 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0799:Chd5
|
UTSW |
4 |
152,468,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0800:Chd5
|
UTSW |
4 |
152,440,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1276:Chd5
|
UTSW |
4 |
152,463,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Chd5
|
UTSW |
4 |
152,459,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Chd5
|
UTSW |
4 |
152,463,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Chd5
|
UTSW |
4 |
152,470,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1850:Chd5
|
UTSW |
4 |
152,454,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Chd5
|
UTSW |
4 |
152,462,727 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1859:Chd5
|
UTSW |
4 |
152,464,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2404:Chd5
|
UTSW |
4 |
152,451,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Chd5
|
UTSW |
4 |
152,456,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2898:Chd5
|
UTSW |
4 |
152,456,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3893:Chd5
|
UTSW |
4 |
152,445,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3938:Chd5
|
UTSW |
4 |
152,461,512 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4707:Chd5
|
UTSW |
4 |
152,445,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4754:Chd5
|
UTSW |
4 |
152,462,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4911:Chd5
|
UTSW |
4 |
152,445,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4924:Chd5
|
UTSW |
4 |
152,450,886 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4926:Chd5
|
UTSW |
4 |
152,467,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5256:Chd5
|
UTSW |
4 |
152,456,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5524:Chd5
|
UTSW |
4 |
152,461,087 (GRCm39) |
missense |
probably benign |
|
|
R5552:Chd5
|
UTSW |
4 |
152,470,272 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5895:Chd5
|
UTSW |
4 |
152,464,389 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5945:Chd5
|
UTSW |
4 |
152,464,408 (GRCm39) |
missense |
probably benign |
|
|
R6007:Chd5
|
UTSW |
4 |
152,463,878 (GRCm39) |
missense |
probably null |
1.00 |
|
R6039:Chd5
|
UTSW |
4 |
152,438,078 (GRCm39) |
small deletion |
probably benign |
|
|
R6039:Chd5
|
UTSW |
4 |
152,438,078 (GRCm39) |
small deletion |
probably benign |
|
|
R6172:Chd5
|
UTSW |
4 |
152,463,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6173:Chd5
|
UTSW |
4 |
152,463,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6323:Chd5
|
UTSW |
4 |
152,451,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6331:Chd5
|
UTSW |
4 |
152,466,865 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6495:Chd5
|
UTSW |
4 |
152,451,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6528:Chd5
|
UTSW |
4 |
152,441,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6849:Chd5
|
UTSW |
4 |
152,462,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6854:Chd5
|
UTSW |
4 |
152,467,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6859:Chd5
|
UTSW |
4 |
152,462,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Chd5
|
UTSW |
4 |
152,458,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7034:Chd5
|
UTSW |
4 |
152,445,398 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7110:Chd5
|
UTSW |
4 |
152,469,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7361:Chd5
|
UTSW |
4 |
152,447,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7397:Chd5
|
UTSW |
4 |
152,452,469 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7440:Chd5
|
UTSW |
4 |
152,469,108 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7489:Chd5
|
UTSW |
4 |
152,457,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7810:Chd5
|
UTSW |
4 |
152,443,032 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8057:Chd5
|
UTSW |
4 |
152,450,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8078:Chd5
|
UTSW |
4 |
152,445,448 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8092:Chd5
|
UTSW |
4 |
152,463,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8170:Chd5
|
UTSW |
4 |
152,461,040 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8255:Chd5
|
UTSW |
4 |
152,463,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8348:Chd5
|
UTSW |
4 |
152,445,173 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8448:Chd5
|
UTSW |
4 |
152,445,173 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8478:Chd5
|
UTSW |
4 |
152,441,147 (GRCm39) |
nonsense |
probably null |
|
|
R8482:Chd5
|
UTSW |
4 |
152,441,147 (GRCm39) |
nonsense |
probably null |
|
|
R8670:Chd5
|
UTSW |
4 |
152,469,953 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8733:Chd5
|
UTSW |
4 |
152,463,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8743:Chd5
|
UTSW |
4 |
152,450,862 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8941:Chd5
|
UTSW |
4 |
152,463,305 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8961:Chd5
|
UTSW |
4 |
152,467,489 (GRCm39) |
splice site |
probably benign |
|
|
R9103:Chd5
|
UTSW |
4 |
152,461,444 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9160:Chd5
|
UTSW |
4 |
152,469,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9221:Chd5
|
UTSW |
4 |
152,456,122 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9399:Chd5
|
UTSW |
4 |
152,468,592 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9429:Chd5
|
UTSW |
4 |
152,447,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9635:Chd5
|
UTSW |
4 |
152,461,079 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9783:Chd5
|
UTSW |
4 |
152,458,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Chd5
|
UTSW |
4 |
152,462,936 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGACTCCTCCCCTTTCAG -3'
(R):5'- CTGTGAAGGTCTTAAAAGCGGG -3'
Sequencing Primer
(F):5'- GTGCTGTCACACACACTGC -3'
(R):5'- ACACTTCCAATCTAGGCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation