Incidental Mutation 'R5008:Chd1l'
| ID |
390268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd1l
|
| Ensembl Gene |
ENSMUSG00000028089 |
| Gene Name |
chromodomain helicase DNA binding protein 1-like |
| Synonyms |
Snf2p, 4432404A22Rik |
| MMRRC Submission |
042599-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.293)
|
| Stock # |
R5008 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
97468058-97517519 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97491224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 423
(N423D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029730]
|
| AlphaFold |
Q9CXF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029730
AA Change: N423D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029730
Gene: ENSMUSG00000028089
AA Change: N423D
| 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 |
0.8722 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
97% (73/75) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
G |
7: 27,278,192 (GRCm39) |
T242R |
probably damaging |
Het |
| 2310057N15Rik |
A |
G |
16: 88,570,663 (GRCm39) |
Y126H |
probably damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,894,859 (GRCm39) |
Y579* |
probably null |
Het |
| Chchd5 |
A |
T |
2: 128,972,319 (GRCm39) |
|
probably null |
Het |
| Cntnap1 |
G |
A |
11: 101,079,567 (GRCm39) |
W1268* |
probably null |
Het |
| Col2a1 |
G |
A |
15: 97,877,550 (GRCm39) |
A1011V |
probably benign |
Het |
| Cst11 |
A |
G |
2: 148,612,325 (GRCm39) |
I104T |
probably benign |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Dnaaf4 |
T |
C |
9: 72,879,600 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,001,403 (GRCm39) |
F847L |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,323,439 (GRCm39) |
H194L |
possibly damaging |
Het |
| Dync2i2 |
C |
A |
2: 29,922,781 (GRCm39) |
R322L |
probably benign |
Het |
| Frmd5 |
C |
A |
2: 121,379,341 (GRCm39) |
R414L |
probably damaging |
Het |
| Galnt3 |
C |
A |
2: 65,915,585 (GRCm39) |
R592L |
probably benign |
Het |
| Gm38706 |
T |
A |
6: 130,461,580 (GRCm39) |
|
noncoding transcript |
Het |
| Gm38706 |
T |
A |
6: 130,461,983 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep3 |
A |
G |
4: 119,956,114 (GRCm39) |
K1477E |
probably benign |
Het |
| Igsf3 |
C |
T |
3: 101,358,233 (GRCm39) |
T708M |
probably damaging |
Het |
| Ikzf4 |
T |
G |
10: 128,477,119 (GRCm39) |
E64A |
probably benign |
Het |
| Klhl28 |
C |
T |
12: 65,004,001 (GRCm39) |
E171K |
probably damaging |
Het |
| Krt87 |
T |
A |
15: 101,389,105 (GRCm39) |
I76F |
probably damaging |
Het |
| Lat2 |
A |
G |
5: 134,631,991 (GRCm39) |
V152A |
probably benign |
Het |
| Lrp12 |
C |
T |
15: 39,741,852 (GRCm39) |
D288N |
probably damaging |
Het |
| Mdp1 |
C |
T |
14: 55,896,683 (GRCm39) |
R126Q |
probably damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
T |
A |
11: 67,144,358 (GRCm39) |
S1243T |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,088,412 (GRCm39) |
F892I |
probably damaging |
Het |
| Nckap5l |
T |
C |
15: 99,323,731 (GRCm39) |
N924S |
possibly damaging |
Het |
| Npnt |
C |
T |
3: 132,612,218 (GRCm39) |
C218Y |
probably damaging |
Het |
| Or2a20 |
T |
A |
6: 43,193,991 (GRCm39) |
I48N |
probably damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,288 (GRCm39) |
M260K |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,905 (GRCm39) |
F289I |
probably damaging |
Het |
| Pfkm |
G |
A |
15: 98,020,570 (GRCm39) |
C233Y |
probably benign |
Het |
| Pigq |
A |
G |
17: 26,153,177 (GRCm39) |
V338A |
probably benign |
Het |
| Pld4 |
A |
T |
12: 112,734,484 (GRCm39) |
N415I |
possibly damaging |
Het |
| Pmm1 |
A |
T |
15: 81,842,095 (GRCm39) |
|
probably null |
Het |
| Polg |
G |
T |
7: 79,109,822 (GRCm39) |
P394T |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,882,749 (GRCm39) |
I1359L |
probably benign |
Het |
| Pramel30 |
A |
G |
4: 144,057,836 (GRCm39) |
S148G |
probably benign |
Het |
| Pros1 |
A |
G |
16: 62,748,548 (GRCm39) |
N674D |
possibly damaging |
Het |
| Psme4 |
T |
A |
11: 30,806,896 (GRCm39) |
|
probably benign |
Het |
| Rasa3 |
A |
T |
8: 13,634,959 (GRCm39) |
C453* |
probably null |
Het |
| Repin1 |
T |
C |
6: 48,573,542 (GRCm39) |
V101A |
probably damaging |
Het |
| Rnf186 |
A |
T |
4: 138,694,540 (GRCm39) |
M27L |
probably benign |
Het |
| Rpa1 |
A |
G |
11: 75,204,125 (GRCm39) |
|
probably null |
Het |
| Rph3a |
G |
T |
5: 121,083,454 (GRCm39) |
N605K |
probably damaging |
Het |
| Rps18 |
A |
T |
17: 34,171,258 (GRCm39) |
|
probably null |
Het |
| Scgn |
A |
G |
13: 24,174,958 (GRCm39) |
I20T |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,848,452 (GRCm39) |
V652E |
possibly damaging |
Het |
| Slc23a2 |
T |
C |
2: 131,943,414 (GRCm39) |
H29R |
probably damaging |
Het |
| Slc34a3 |
C |
T |
2: 25,120,854 (GRCm39) |
V383I |
possibly damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,309,917 (GRCm39) |
M382V |
possibly damaging |
Het |
| Slc5a3 |
T |
A |
16: 91,874,169 (GRCm39) |
S75R |
probably damaging |
Het |
| Stat5b |
G |
C |
11: 100,693,309 (GRCm39) |
H111D |
probably benign |
Het |
| Tanc2 |
G |
A |
11: 105,515,886 (GRCm39) |
M1I |
probably null |
Het |
| Tbcel |
C |
T |
9: 42,327,419 (GRCm39) |
G328E |
probably damaging |
Het |
| Tecta |
C |
A |
9: 42,284,358 (GRCm39) |
R909L |
possibly damaging |
Het |
| Tnip1 |
A |
T |
11: 54,828,810 (GRCm39) |
M119K |
probably benign |
Het |
| Zbbx |
A |
C |
3: 75,058,755 (GRCm39) |
S51A |
possibly damaging |
Het |
| Zc3h12c |
T |
C |
9: 52,028,000 (GRCm39) |
N454S |
probably benign |
Het |
| Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
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 |
|
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 |
|
R6483:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACACTGGGGTCTCTCCATTC -3'
(R):5'- TCAGTCCTCCGAAATCAGGC -3'
Sequencing Primer
(F):5'- GTCACCAAGGACTGTGTGTCTC -3'
(R):5'- TCCTCCGAAATCAGGCCGTAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation