Incidental Mutation 'IGL03048:Chd1l'
| ID |
391803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd1l
|
| Ensembl Gene |
ENSMUSG00000028089 |
| Gene Name |
chromodomain helicase DNA binding protein 1-like |
| Synonyms |
Snf2p, 4432404A22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
IGL03048 (G1)
|
| Quality Score |
161 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
97468058-97517519 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97505079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 163
(S163G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029730]
|
| AlphaFold |
Q9CXF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029730
AA Change: S163G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000029730
Gene: ENSMUSG00000028089
AA Change: S163G
| 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 |
0.1364 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
T |
C |
2: 26,868,711 (GRCm39) |
|
probably null |
Het |
| Anapc4 |
C |
T |
5: 52,997,075 (GRCm39) |
T116I |
probably benign |
Het |
| Arhgap45 |
C |
T |
10: 79,852,851 (GRCm39) |
R14C |
probably damaging |
Het |
| Bysl |
T |
C |
17: 47,913,560 (GRCm39) |
|
probably null |
Het |
| Ccdc166 |
T |
A |
15: 75,854,050 (GRCm39) |
N10I |
possibly damaging |
Het |
| Col6a3 |
A |
G |
1: 90,737,970 (GRCm39) |
V576A |
possibly damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,339 (GRCm39) |
T162A |
probably benign |
Het |
| Dcbld1 |
A |
T |
10: 52,180,722 (GRCm39) |
I200F |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,720,866 (GRCm39) |
E1713G |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,198 (GRCm39) |
T220S |
probably damaging |
Het |
| Evx1 |
T |
C |
6: 52,292,739 (GRCm39) |
L130P |
probably benign |
Het |
| Fam168a |
A |
G |
7: 100,484,545 (GRCm39) |
T228A |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Firrm |
G |
A |
1: 163,792,094 (GRCm39) |
A608V |
probably benign |
Het |
| Foxp4 |
A |
T |
17: 48,191,765 (GRCm39) |
M124K |
unknown |
Het |
| Gabrr3 |
A |
G |
16: 59,250,493 (GRCm39) |
H164R |
probably benign |
Het |
| Gapdhrt |
T |
A |
14: 11,281,873 (GRCm38) |
I21F |
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,783,332 (GRCm39) |
C134Y |
probably damaging |
Het |
| Hddc2 |
G |
A |
10: 31,192,332 (GRCm39) |
V79I |
possibly damaging |
Het |
| Lbr |
T |
C |
1: 181,666,109 (GRCm39) |
|
probably benign |
Het |
| Mamdc4 |
C |
T |
2: 25,459,084 (GRCm39) |
R229K |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,630,847 (GRCm39) |
|
probably benign |
Het |
| Ncoa1 |
T |
C |
12: 4,317,922 (GRCm39) |
R1137G |
probably damaging |
Het |
| Nlrp4d |
T |
C |
7: 10,092,881 (GRCm39) |
|
noncoding transcript |
Het |
| Oasl1 |
T |
A |
5: 115,075,400 (GRCm39) |
S487T |
possibly damaging |
Het |
| Oprm1 |
T |
C |
10: 6,779,064 (GRCm39) |
I91T |
probably damaging |
Het |
| Or11j4 |
G |
T |
14: 50,630,245 (GRCm39) |
V11L |
possibly damaging |
Het |
| Or1e26 |
G |
C |
11: 73,479,831 (GRCm39) |
H244Q |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,338,065 (GRCm39) |
F101L |
probably benign |
Het |
| Pdzk1ip1 |
T |
A |
4: 114,950,181 (GRCm39) |
D147E |
probably benign |
Het |
| Per1 |
A |
G |
11: 68,995,552 (GRCm39) |
K711E |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,214 (GRCm39) |
N734S |
probably damaging |
Het |
| Rapgefl1 |
T |
C |
11: 98,727,990 (GRCm39) |
L4P |
possibly damaging |
Het |
| Sgk2 |
A |
G |
2: 162,837,680 (GRCm39) |
Y101C |
probably damaging |
Het |
| Tmem129 |
A |
G |
5: 33,812,811 (GRCm39) |
V179A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,719,259 (GRCm39) |
|
probably benign |
Het |
| Ttyh2 |
T |
A |
11: 114,587,521 (GRCm39) |
M174K |
probably benign |
Het |
| Vmn2r13 |
G |
A |
5: 109,304,151 (GRCm39) |
A760V |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,460 (GRCm39) |
I820F |
probably damaging |
Het |
| Zswim4 |
T |
C |
8: 84,938,604 (GRCm39) |
M1093V |
possibly damaging |
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 |
|
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 |
|
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'- GCCATTACACCATTACCGGC -3'
(R):5'- ACACACAGAGTTCCAAGTTCAG -3'
Sequencing Primer
(F):5'- CATGCATGATCCCTCAATGGTAGG -3'
(R):5'- GAAGCTCCTTGCCTGCAC -3'
|
| Posted On |
2016-06-07 |
Incidental Mutation