Incidental Mutation 'R2069:Chd1'
| ID |
226994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd1
|
| Ensembl Gene |
ENSMUSG00000023852 |
| Gene Name |
chromodomain helicase DNA binding protein 1 |
| Synonyms |
4930525N21Rik |
| MMRRC Submission |
040074-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2069 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
15925229-15992872 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15962556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 771
(F771S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024627]
[ENSMUST00000173311]
|
| AlphaFold |
P40201 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024627
AA Change: F771S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000024627
Gene: ENSMUSG00000023852
AA Change: F771S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
230 |
N/A |
INTRINSIC |
|
CHROMO
|
268 |
355 |
6.43e-20 |
SMART |
|
CHROMO
|
385 |
443 |
1.19e-14 |
SMART |
|
DEXDc
|
475 |
672 |
3.44e-34 |
SMART |
|
Blast:DEXDc
|
692 |
786 |
2e-54 |
BLAST |
|
low complexity region
|
787 |
799 |
N/A |
INTRINSIC |
|
HELICc
|
816 |
900 |
8.48e-25 |
SMART |
|
Blast:DEXDc
|
955 |
1234 |
1e-112 |
BLAST |
|
PDB:4B4C|A
|
1119 |
1320 |
1e-132 |
PDB |
|
low complexity region
|
1325 |
1348 |
N/A |
INTRINSIC |
|
low complexity region
|
1377 |
1388 |
N/A |
INTRINSIC |
|
DUF4208
|
1396 |
1500 |
5.54e-51 |
SMART |
|
low complexity region
|
1507 |
1516 |
N/A |
INTRINSIC |
|
low complexity region
|
1538 |
1549 |
N/A |
INTRINSIC |
|
low complexity region
|
1626 |
1650 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173311
AA Change: F771S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000134091
Gene: ENSMUSG00000023852
AA Change: F771S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
230 |
N/A |
INTRINSIC |
|
CHROMO
|
268 |
355 |
6.43e-20 |
SMART |
|
CHROMO
|
385 |
443 |
1.19e-14 |
SMART |
|
DEXDc
|
475 |
672 |
3.44e-34 |
SMART |
|
Blast:DEXDc
|
692 |
786 |
2e-54 |
BLAST |
|
low complexity region
|
787 |
799 |
N/A |
INTRINSIC |
|
HELICc
|
816 |
900 |
8.48e-25 |
SMART |
|
Blast:DEXDc
|
955 |
1078 |
2e-38 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000174461
AA Change: F155S
|
| SMART Domains |
Protein: ENSMUSP00000134718
Gene: ENSMUSG00000023852
AA Change: F155S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF2_N
|
1 |
148 |
3.6e-34 |
PFAM |
|
low complexity region
|
172 |
184 |
N/A |
INTRINSIC |
|
HELICc
|
201 |
285 |
8.48e-25 |
SMART |
|
Blast:DEXDc
|
340 |
516 |
1e-47 |
BLAST |
|
| Meta Mutation Damage Score |
0.2083 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (104/104) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with arrest of epiblast development due to increased apoptosis and cell cycle defects, abnormal rostral-caudal axis patterning, and failure to gastrulate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
T |
C |
5: 115,012,341 (GRCm39) |
V86A |
probably benign |
Het |
| Abcc3 |
A |
T |
11: 94,255,243 (GRCm39) |
I601N |
probably damaging |
Het |
| Abl2 |
T |
A |
1: 156,448,397 (GRCm39) |
|
probably null |
Het |
| Adgrf4 |
C |
T |
17: 42,977,789 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Ahi1 |
C |
T |
10: 20,835,895 (GRCm39) |
T76I |
probably damaging |
Het |
| Arhgap42 |
C |
T |
9: 9,035,601 (GRCm39) |
G247D |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,260,471 (GRCm39) |
L407F |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,252,423 (GRCm39) |
F606L |
probably benign |
Het |
| Avl9 |
T |
A |
6: 56,713,420 (GRCm39) |
|
probably benign |
Het |
| B3glct |
C |
T |
5: 149,632,845 (GRCm39) |
A65V |
probably damaging |
Het |
| Bcorl1 |
T |
C |
X: 47,490,794 (GRCm39) |
|
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,187,496 (GRCm39) |
T1624A |
probably benign |
Het |
| Bmp15 |
A |
G |
X: 6,228,075 (GRCm39) |
M263T |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,747,532 (GRCm39) |
K110E |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,848,041 (GRCm39) |
D1052G |
probably damaging |
Het |
| Capn9 |
G |
A |
8: 125,332,450 (GRCm39) |
G430R |
possibly damaging |
Het |
| Ccdc113 |
G |
A |
8: 96,283,924 (GRCm39) |
E333K |
probably benign |
Het |
| Ccnl2 |
A |
T |
4: 155,896,938 (GRCm39) |
|
probably null |
Het |
| Ccr9 |
T |
C |
9: 123,608,429 (GRCm39) |
F37S |
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,065,889 (GRCm39) |
D721V |
probably damaging |
Het |
| Ceacam10 |
A |
T |
7: 24,477,797 (GRCm39) |
N104I |
probably damaging |
Het |
| Cenpk |
T |
A |
13: 104,372,684 (GRCm39) |
|
probably benign |
Het |
| Cfi |
A |
G |
3: 129,652,453 (GRCm39) |
|
probably null |
Het |
| Chil4 |
G |
A |
3: 106,126,771 (GRCm39) |
L4F |
probably benign |
Het |
| Cilp |
G |
A |
9: 65,185,372 (GRCm39) |
R489Q |
possibly damaging |
Het |
| Cntnap5b |
G |
A |
1: 100,286,450 (GRCm39) |
G402R |
probably benign |
Het |
| Coq8b |
A |
G |
7: 26,956,802 (GRCm39) |
E485G |
probably damaging |
Het |
| Cse1l |
A |
G |
2: 166,783,412 (GRCm39) |
S733G |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,312,534 (GRCm39) |
|
probably null |
Het |
| Dnmt3l |
T |
C |
10: 77,888,566 (GRCm39) |
V156A |
probably damaging |
Het |
| Duox1 |
A |
T |
2: 122,163,543 (GRCm39) |
T792S |
probably benign |
Het |
| Duox2 |
T |
C |
2: 122,117,589 (GRCm39) |
D915G |
probably benign |
Het |
| Efcab5 |
A |
T |
11: 77,063,147 (GRCm39) |
M115K |
probably benign |
Het |
| Eif2s1 |
G |
A |
12: 78,923,959 (GRCm39) |
D139N |
probably benign |
Het |
| Erg |
A |
G |
16: 95,161,937 (GRCm39) |
F390L |
probably damaging |
Het |
| Fam193b |
A |
T |
13: 55,690,811 (GRCm39) |
S650R |
probably damaging |
Het |
| Fbp2 |
T |
A |
13: 63,001,875 (GRCm39) |
K113N |
possibly damaging |
Het |
| Fnbp4 |
T |
G |
2: 90,588,716 (GRCm39) |
S496A |
probably damaging |
Het |
| Gab3 |
C |
A |
X: 74,043,701 (GRCm39) |
R475L |
probably damaging |
Het |
| Gsap |
T |
C |
5: 21,431,837 (GRCm39) |
|
probably benign |
Het |
| Gucy1a2 |
C |
T |
9: 3,582,697 (GRCm39) |
L160F |
probably damaging |
Het |
| Hivep1 |
C |
T |
13: 42,337,262 (GRCm39) |
A2447V |
possibly damaging |
Het |
| Insc |
G |
T |
7: 114,403,828 (GRCm39) |
|
probably null |
Het |
| Jph2 |
A |
G |
2: 163,181,605 (GRCm39) |
S520P |
possibly damaging |
Het |
| Kidins220 |
T |
A |
12: 25,037,005 (GRCm39) |
|
probably benign |
Het |
| Krtap29-1 |
A |
G |
11: 99,869,438 (GRCm39) |
S148P |
probably damaging |
Het |
| Ltbp2 |
A |
C |
12: 84,840,507 (GRCm39) |
C1000G |
probably damaging |
Het |
| Map2k3 |
T |
C |
11: 60,840,853 (GRCm39) |
F294S |
probably damaging |
Het |
| Map4k2 |
C |
A |
19: 6,392,768 (GRCm39) |
|
probably benign |
Het |
| Mboat2 |
T |
C |
12: 25,001,442 (GRCm39) |
V281A |
probably benign |
Het |
| Mdga2 |
G |
A |
12: 66,615,691 (GRCm39) |
R570* |
probably null |
Het |
| Mlxipl |
A |
G |
5: 135,135,859 (GRCm39) |
D28G |
probably damaging |
Het |
| Morc2b |
T |
C |
17: 33,355,734 (GRCm39) |
I679M |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,192 (GRCm39) |
|
probably benign |
Het |
| Nfib |
A |
C |
4: 82,416,852 (GRCm39) |
L61R |
probably damaging |
Het |
| Noc2l |
C |
A |
4: 156,325,907 (GRCm39) |
Y227* |
probably null |
Het |
| Nrde2 |
A |
G |
12: 100,108,491 (GRCm39) |
S367P |
probably damaging |
Het |
| Nup93 |
C |
A |
8: 94,970,367 (GRCm39) |
P89T |
probably damaging |
Het |
| Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
| Or10a2 |
A |
T |
7: 106,673,826 (GRCm39) |
K264* |
probably null |
Het |
| Or11h4 |
T |
A |
14: 50,974,033 (GRCm39) |
E195D |
possibly damaging |
Het |
| Or4a68 |
C |
T |
2: 89,269,927 (GRCm39) |
R232H |
probably benign |
Het |
| Or4k77 |
A |
G |
2: 111,199,440 (GRCm39) |
I154M |
probably benign |
Het |
| Or6b9 |
A |
T |
7: 106,555,494 (GRCm39) |
Y216* |
probably null |
Het |
| Or9r7 |
A |
G |
10: 129,962,074 (GRCm39) |
I284T |
possibly damaging |
Het |
| Oxct1 |
G |
T |
15: 4,122,007 (GRCm39) |
A319S |
probably null |
Het |
| P2ry10 |
A |
G |
X: 106,146,859 (GRCm39) |
S265G |
probably benign |
Het |
| Peak1 |
A |
T |
9: 56,166,043 (GRCm39) |
N628K |
probably damaging |
Het |
| Pkdrej |
T |
A |
15: 85,705,432 (GRCm39) |
Q168L |
probably benign |
Het |
| Plaat5 |
T |
C |
19: 7,590,003 (GRCm39) |
S10P |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,073,126 (GRCm39) |
M604T |
probably benign |
Het |
| Pmfbp1 |
A |
T |
8: 110,258,735 (GRCm39) |
N680I |
possibly damaging |
Het |
| Pnma8b |
T |
C |
7: 16,679,714 (GRCm39) |
W233R |
probably damaging |
Het |
| Pxn |
A |
G |
5: 115,683,726 (GRCm39) |
N186S |
probably benign |
Het |
| Rsad1 |
A |
C |
11: 94,439,951 (GRCm39) |
|
probably benign |
Het |
| Runx2 |
A |
G |
17: 45,046,229 (GRCm39) |
I112T |
probably benign |
Het |
| S1pr2 |
A |
T |
9: 20,878,790 (GRCm39) |
L346Q |
probably damaging |
Het |
| Skint6 |
A |
G |
4: 113,095,329 (GRCm39) |
I110T |
probably damaging |
Het |
| Slc36a4 |
T |
A |
9: 15,638,276 (GRCm39) |
F234Y |
probably damaging |
Het |
| Slitrk2 |
T |
A |
X: 65,698,235 (GRCm39) |
V242D |
probably damaging |
Het |
| Sp100 |
A |
G |
1: 85,608,863 (GRCm39) |
|
probably null |
Het |
| Spryd3 |
A |
C |
15: 102,026,616 (GRCm39) |
L352V |
probably benign |
Het |
| Ssc4d |
A |
C |
5: 135,999,171 (GRCm39) |
W11G |
possibly damaging |
Het |
| Stx17 |
T |
A |
4: 48,158,870 (GRCm39) |
D83E |
probably damaging |
Het |
| Tlk2 |
A |
T |
11: 105,131,266 (GRCm39) |
Q204L |
probably benign |
Het |
| Tnfrsf21 |
A |
T |
17: 43,348,829 (GRCm39) |
H147L |
possibly damaging |
Het |
| Tnrc18 |
A |
T |
5: 142,751,842 (GRCm39) |
D1154E |
unknown |
Het |
| Trap1 |
A |
G |
16: 3,886,200 (GRCm39) |
S86P |
probably benign |
Het |
| Trim32 |
T |
A |
4: 65,533,013 (GRCm39) |
C523* |
probably null |
Het |
| Ttc38 |
G |
T |
15: 85,722,989 (GRCm39) |
D146Y |
probably damaging |
Het |
| Ttc9 |
T |
A |
12: 81,678,570 (GRCm39) |
L131Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,557,192 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,643,683 (GRCm39) |
G11436R |
probably damaging |
Het |
| Ubash3b |
G |
A |
9: 40,954,869 (GRCm39) |
P92S |
possibly damaging |
Het |
| Ube4a |
T |
C |
9: 44,859,397 (GRCm39) |
N367S |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,206,851 (GRCm39) |
H4899Q |
possibly damaging |
Het |
| Ufl1 |
C |
T |
4: 25,269,036 (GRCm39) |
G265D |
possibly damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,201,442 (GRCm39) |
I172F |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,463,519 (GRCm39) |
H438Q |
possibly damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,949,425 (GRCm39) |
D615G |
probably benign |
Het |
| Wdr24 |
T |
A |
17: 26,045,256 (GRCm39) |
D330E |
probably damaging |
Het |
| Zbbx |
A |
T |
3: 74,985,719 (GRCm39) |
N444K |
probably benign |
Het |
| Zc3h7b |
A |
T |
15: 81,676,529 (GRCm39) |
Q757L |
probably damaging |
Het |
| Zpld2 |
T |
G |
4: 133,929,252 (GRCm39) |
N351T |
possibly damaging |
Het |
|
| Other mutations in Chd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00704:Chd1
|
APN |
17 |
15,952,827 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01356:Chd1
|
APN |
17 |
15,970,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01369:Chd1
|
APN |
17 |
15,975,259 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01519:Chd1
|
APN |
17 |
17,598,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01604:Chd1
|
APN |
17 |
15,990,359 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01635:Chd1
|
APN |
17 |
17,598,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01721:Chd1
|
APN |
17 |
15,990,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01959:Chd1
|
APN |
17 |
15,962,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02367:Chd1
|
APN |
17 |
17,610,315 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02476:Chd1
|
APN |
17 |
15,954,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02756:Chd1
|
APN |
17 |
15,951,069 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02817:Chd1
|
APN |
17 |
15,969,762 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03084:Chd1
|
APN |
17 |
15,990,560 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03108:Chd1
|
APN |
17 |
15,945,543 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Holly
|
UTSW |
17 |
15,946,545 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0053:Chd1
|
UTSW |
17 |
15,967,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Chd1
|
UTSW |
17 |
15,967,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Chd1
|
UTSW |
17 |
17,613,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0197:Chd1
|
UTSW |
17 |
15,945,693 (GRCm39) |
missense |
probably benign |
|
|
R0285:Chd1
|
UTSW |
17 |
17,594,942 (GRCm39) |
splice site |
probably benign |
|
|
R0326:Chd1
|
UTSW |
17 |
15,988,830 (GRCm39) |
missense |
probably benign |
|
|
R0326:Chd1
|
UTSW |
17 |
15,988,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0372:Chd1
|
UTSW |
17 |
17,607,552 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0391:Chd1
|
UTSW |
17 |
15,970,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0486:Chd1
|
UTSW |
17 |
15,954,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0637:Chd1
|
UTSW |
17 |
15,962,550 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0675:Chd1
|
UTSW |
17 |
15,978,523 (GRCm39) |
unclassified |
probably benign |
|
|
R0701:Chd1
|
UTSW |
17 |
15,945,693 (GRCm39) |
missense |
probably benign |
|
|
R0788:Chd1
|
UTSW |
17 |
15,927,376 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0848:Chd1
|
UTSW |
17 |
15,990,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Chd1
|
UTSW |
17 |
15,945,693 (GRCm39) |
missense |
probably benign |
|
|
R1169:Chd1
|
UTSW |
17 |
15,955,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1218:Chd1
|
UTSW |
17 |
15,945,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Chd1
|
UTSW |
17 |
17,607,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1470:Chd1
|
UTSW |
17 |
15,946,545 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1470:Chd1
|
UTSW |
17 |
15,946,545 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1478:Chd1
|
UTSW |
17 |
15,959,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1752:Chd1
|
UTSW |
17 |
15,963,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1759:Chd1
|
UTSW |
17 |
17,607,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1767:Chd1
|
UTSW |
17 |
15,990,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Chd1
|
UTSW |
17 |
15,982,748 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2007:Chd1
|
UTSW |
17 |
15,951,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3771:Chd1
|
UTSW |
17 |
17,594,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3773:Chd1
|
UTSW |
17 |
17,594,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3849:Chd1
|
UTSW |
17 |
15,952,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4241:Chd1
|
UTSW |
17 |
15,990,289 (GRCm39) |
nonsense |
probably null |
|
|
R4242:Chd1
|
UTSW |
17 |
15,990,289 (GRCm39) |
nonsense |
probably null |
|
|
R4354:Chd1
|
UTSW |
17 |
17,610,263 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4468:Chd1
|
UTSW |
17 |
15,980,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4469:Chd1
|
UTSW |
17 |
15,980,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4731:Chd1
|
UTSW |
17 |
17,598,079 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4824:Chd1
|
UTSW |
17 |
15,953,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:Chd1
|
UTSW |
17 |
15,989,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:Chd1
|
UTSW |
17 |
15,989,015 (GRCm39) |
nonsense |
probably null |
|
|
R4880:Chd1
|
UTSW |
17 |
17,594,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Chd1
|
UTSW |
17 |
15,962,493 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5071:Chd1
|
UTSW |
17 |
15,982,667 (GRCm39) |
missense |
probably benign |
|
|
R5078:Chd1
|
UTSW |
17 |
15,946,616 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5114:Chd1
|
UTSW |
17 |
15,948,460 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5268:Chd1
|
UTSW |
17 |
15,956,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Chd1
|
UTSW |
17 |
15,990,530 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5304:Chd1
|
UTSW |
17 |
15,975,213 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5307:Chd1
|
UTSW |
17 |
15,952,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Chd1
|
UTSW |
17 |
15,958,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5553:Chd1
|
UTSW |
17 |
17,605,875 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5623:Chd1
|
UTSW |
17 |
15,975,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6022:Chd1
|
UTSW |
17 |
17,598,035 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6137:Chd1
|
UTSW |
17 |
15,978,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Chd1
|
UTSW |
17 |
15,950,465 (GRCm39) |
splice site |
probably null |
|
|
R6373:Chd1
|
UTSW |
17 |
15,958,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6458:Chd1
|
UTSW |
17 |
15,950,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6476:Chd1
|
UTSW |
17 |
17,601,250 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6508:Chd1
|
UTSW |
17 |
15,958,895 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6553:Chd1
|
UTSW |
17 |
15,945,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6745:Chd1
|
UTSW |
17 |
17,607,429 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7107:Chd1
|
UTSW |
17 |
15,981,628 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7230:Chd1
|
UTSW |
17 |
15,927,199 (GRCm39) |
splice site |
probably null |
|
|
R7317:Chd1
|
UTSW |
17 |
15,962,536 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7341:Chd1
|
UTSW |
17 |
15,990,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7421:Chd1
|
UTSW |
17 |
15,969,660 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7704:Chd1
|
UTSW |
17 |
15,987,737 (GRCm39) |
missense |
probably benign |
|
|
R7763:Chd1
|
UTSW |
17 |
15,953,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8156:Chd1
|
UTSW |
17 |
15,981,666 (GRCm39) |
missense |
probably benign |
|
|
R8194:Chd1
|
UTSW |
17 |
17,594,737 (GRCm39) |
start gained |
probably benign |
|
|
R8261:Chd1
|
UTSW |
17 |
17,607,804 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8338:Chd1
|
UTSW |
17 |
15,990,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8401:Chd1
|
UTSW |
17 |
15,963,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8411:Chd1
|
UTSW |
17 |
15,982,711 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9067:Chd1
|
UTSW |
17 |
15,951,107 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9184:Chd1
|
UTSW |
17 |
15,962,551 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9210:Chd1
|
UTSW |
17 |
15,950,767 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9212:Chd1
|
UTSW |
17 |
15,950,767 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9666:Chd1
|
UTSW |
17 |
15,955,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9673:Chd1
|
UTSW |
17 |
15,989,023 (GRCm39) |
missense |
probably benign |
0.24 |
|
Z1176:Chd1
|
UTSW |
17 |
15,988,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Chd1
|
UTSW |
17 |
15,986,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Chd1
|
UTSW |
17 |
15,968,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGCTTCAGGATGATGACTAATG -3'
(R):5'- ACAACTCACTGGTTTGAAAGAC -3'
Sequencing Primer
(F):5'- GACTAATGCTGGTTTTAAGCTTTCAC -3'
(R):5'- CCAAAGAGAACTTGACATGAAT -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation