Incidental Mutation 'R6483:Chd1l'
| ID |
517194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd1l
|
| Ensembl Gene |
ENSMUSG00000028089 |
| Gene Name |
chromodomain helicase DNA binding protein 1-like |
| Synonyms |
Snf2p, 4432404A22Rik |
| MMRRC Submission |
044615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R6483 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
97468058-97517519 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 97494483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 399
(A399V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029730]
|
| AlphaFold |
Q9CXF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029730
AA Change: A399V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029730
Gene: ENSMUSG00000028089
AA Change: A399V
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
36 |
224 |
1.83e-38 |
SMART |
|
HELICc
|
371 |
453 |
7.45e-21 |
SMART |
|
low complexity region
|
548 |
570 |
N/A |
INTRINSIC |
|
coiled coil region
|
643 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
709 |
N/A |
INTRINSIC |
|
PDB:2FG1|A
|
718 |
878 |
6e-9 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197304
|
| Meta Mutation Damage Score |
0.3595 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
G |
14: 29,700,538 (GRCm39) |
L39R |
possibly damaging |
Het |
| Amer3 |
T |
C |
1: 34,626,771 (GRCm39) |
S337P |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,344,226 (GRCm39) |
I12K |
probably damaging |
Het |
| Atp2b4 |
A |
G |
1: 133,657,618 (GRCm39) |
V624A |
possibly damaging |
Het |
| BB014433 |
A |
T |
8: 15,092,208 (GRCm39) |
L215Q |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,978,425 (GRCm39) |
V963A |
probably benign |
Het |
| Bpifa6 |
T |
C |
2: 153,832,354 (GRCm39) |
L287S |
probably benign |
Het |
| Bsnd |
A |
T |
4: 106,345,212 (GRCm39) |
L78Q |
probably damaging |
Het |
| C1qtnf3 |
T |
C |
15: 10,958,156 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
T |
G |
4: 45,921,950 (GRCm39) |
V1008G |
probably benign |
Het |
| Ccl1 |
T |
G |
11: 82,068,860 (GRCm39) |
D59A |
possibly damaging |
Het |
| Cfap58 |
T |
C |
19: 47,971,891 (GRCm39) |
I607T |
probably benign |
Het |
| Cntnap4 |
C |
T |
8: 113,484,105 (GRCm39) |
P386L |
possibly damaging |
Het |
| Col1a1 |
G |
A |
11: 94,833,444 (GRCm39) |
|
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,085,003 (GRCm39) |
D798E |
probably damaging |
Het |
| Eml6 |
T |
G |
11: 29,699,875 (GRCm39) |
I1754L |
probably benign |
Het |
| Ercc8 |
T |
A |
13: 108,320,344 (GRCm39) |
V310D |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,187,171 (GRCm39) |
T1225I |
probably damaging |
Het |
| Gba1 |
A |
G |
3: 89,115,910 (GRCm39) |
Y510C |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm43302 |
T |
A |
5: 105,423,726 (GRCm39) |
M416L |
probably benign |
Het |
| Grxcr2 |
A |
T |
18: 42,124,955 (GRCm39) |
V151E |
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,240,066 (GRCm39) |
N296S |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,355,811 (GRCm39) |
I2354N |
possibly damaging |
Het |
| Inhbc |
G |
A |
10: 127,193,309 (GRCm39) |
R236* |
probably null |
Het |
| Itpr2 |
T |
C |
6: 146,013,975 (GRCm39) |
D2607G |
possibly damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,676,118 (GRCm39) |
D298V |
probably benign |
Het |
| Klrb1c |
A |
G |
6: 128,761,148 (GRCm39) |
S160P |
probably benign |
Het |
| Mrgpra2a |
C |
G |
7: 47,076,437 (GRCm39) |
E274Q |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,356,591 (GRCm39) |
F1059L |
probably benign |
Het |
| Naglu |
T |
C |
11: 100,962,007 (GRCm39) |
I160T |
probably damaging |
Het |
| Nasp |
A |
T |
4: 116,476,145 (GRCm39) |
L47Q |
probably damaging |
Het |
| Opa1 |
C |
T |
16: 29,447,525 (GRCm39) |
T873I |
possibly damaging |
Het |
| Or10a3n |
C |
T |
7: 108,493,318 (GRCm39) |
V99M |
possibly damaging |
Het |
| Or52x1 |
T |
C |
7: 104,853,500 (GRCm39) |
T17A |
probably benign |
Het |
| Or8u10 |
C |
A |
2: 85,915,784 (GRCm39) |
M112I |
probably benign |
Het |
| Pttg1 |
A |
G |
11: 43,315,671 (GRCm39) |
F48L |
probably damaging |
Het |
| Rho |
T |
C |
6: 115,909,218 (GRCm39) |
F85L |
possibly damaging |
Het |
| Rnasel |
T |
C |
1: 153,630,432 (GRCm39) |
V316A |
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,026,089 (GRCm39) |
I243T |
probably benign |
Het |
| Tada2b |
G |
A |
5: 36,634,029 (GRCm39) |
T183M |
possibly damaging |
Het |
| Tbc1d22a |
A |
G |
15: 86,185,768 (GRCm39) |
M286V |
possibly damaging |
Het |
| Trim69 |
G |
T |
2: 121,998,081 (GRCm39) |
E18* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,772,394 (GRCm39) |
T2503A |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Zfp654 |
T |
A |
16: 64,612,310 (GRCm39) |
N192I |
possibly damaging |
Het |
| Zfp809 |
G |
A |
9: 22,147,540 (GRCm39) |
R58H |
probably benign |
Het |
|
| Other mutations in Chd1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Chd1l
|
APN |
3 |
97,497,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01349:Chd1l
|
APN |
3 |
97,498,550 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02115:Chd1l
|
APN |
3 |
97,497,220 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02418:Chd1l
|
APN |
3 |
97,488,415 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02717:Chd1l
|
APN |
3 |
97,491,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03091:Chd1l
|
APN |
3 |
97,470,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03048:Chd1l
|
UTSW |
3 |
97,505,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0125:Chd1l
|
UTSW |
3 |
97,494,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0702:Chd1l
|
UTSW |
3 |
97,474,110 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1226:Chd1l
|
UTSW |
3 |
97,469,941 (GRCm39) |
nonsense |
probably null |
|
|
R1237:Chd1l
|
UTSW |
3 |
97,490,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1238:Chd1l
|
UTSW |
3 |
97,490,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1239:Chd1l
|
UTSW |
3 |
97,490,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1301:Chd1l
|
UTSW |
3 |
97,510,964 (GRCm39) |
splice site |
probably benign |
|
|
R1366:Chd1l
|
UTSW |
3 |
97,488,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1444:Chd1l
|
UTSW |
3 |
97,490,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1445:Chd1l
|
UTSW |
3 |
97,490,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1500:Chd1l
|
UTSW |
3 |
97,490,121 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1619:Chd1l
|
UTSW |
3 |
97,490,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1640:Chd1l
|
UTSW |
3 |
97,488,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Chd1l
|
UTSW |
3 |
97,495,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Chd1l
|
UTSW |
3 |
97,498,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2444:Chd1l
|
UTSW |
3 |
97,497,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4008:Chd1l
|
UTSW |
3 |
97,477,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4011:Chd1l
|
UTSW |
3 |
97,477,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4106:Chd1l
|
UTSW |
3 |
97,505,019 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4857:Chd1l
|
UTSW |
3 |
97,479,975 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5008:Chd1l
|
UTSW |
3 |
97,491,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Chd1l
|
UTSW |
3 |
97,469,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5844:Chd1l
|
UTSW |
3 |
97,479,883 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6283:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6298:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6309:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6311:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6321:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6327:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6366:Chd1l
|
UTSW |
3 |
97,501,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6467:Chd1l
|
UTSW |
3 |
97,470,849 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6493:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6494:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6585:Chd1l
|
UTSW |
3 |
97,505,088 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6925:Chd1l
|
UTSW |
3 |
97,490,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7148:Chd1l
|
UTSW |
3 |
97,498,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7244:Chd1l
|
UTSW |
3 |
97,505,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8111:Chd1l
|
UTSW |
3 |
97,494,526 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8346:Chd1l
|
UTSW |
3 |
97,469,959 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8852:Chd1l
|
UTSW |
3 |
97,477,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8860:Chd1l
|
UTSW |
3 |
97,477,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9164:Chd1l
|
UTSW |
3 |
97,501,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9612:Chd1l
|
UTSW |
3 |
97,488,463 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACGGCCTCAATTCTCTC -3'
(R):5'- TGTCTCCCTAAAGGTAGACTCC -3'
Sequencing Primer
(F):5'- CCTTTTTACCCCTTAGTAATGGC -3'
(R):5'- CCCTTGGGAATGATTAGAATTGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation