Incidental Mutation 'R7148:Chd1l'
| ID |
553927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd1l
|
| Ensembl Gene |
ENSMUSG00000028089 |
| Gene Name |
chromodomain helicase DNA binding protein 1-like |
| Synonyms |
Snf2p, 4432404A22Rik |
| MMRRC Submission |
045225-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R7148 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
97468058-97517519 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97498632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 256
(V256M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029730]
|
| AlphaFold |
Q9CXF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029730
AA Change: V256M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029730
Gene: ENSMUSG00000028089
AA Change: V256M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
T |
A |
14: 32,110,269 (GRCm39) |
Y14F |
probably damaging |
Het |
| Acly |
A |
G |
11: 100,374,608 (GRCm39) |
V805A |
possibly damaging |
Het |
| Apcdd1 |
T |
C |
18: 63,084,916 (GRCm39) |
V371A |
probably damaging |
Het |
| Cacna1g |
A |
T |
11: 94,356,756 (GRCm39) |
F127I |
probably benign |
Het |
| Ccdc138 |
T |
C |
10: 58,374,102 (GRCm39) |
L374P |
probably damaging |
Het |
| Ces2b |
A |
G |
8: 105,564,928 (GRCm39) |
Y504C |
probably damaging |
Het |
| Ces5a |
C |
T |
8: 94,228,950 (GRCm39) |
G427S |
probably damaging |
Het |
| Col24a1 |
C |
T |
3: 145,021,060 (GRCm39) |
T477M |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,668,464 (GRCm39) |
C573* |
probably null |
Het |
| Emcn |
A |
T |
3: 137,122,855 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Eva1a |
T |
G |
6: 82,048,125 (GRCm39) |
M1R |
probably null |
Het |
| Fam243 |
T |
C |
16: 92,117,875 (GRCm39) |
K138E |
probably benign |
Het |
| Fam83h |
C |
A |
15: 75,877,016 (GRCm39) |
D194Y |
probably damaging |
Het |
| Flywch1 |
T |
C |
17: 23,974,649 (GRCm39) |
K664E |
probably benign |
Het |
| Fzd9 |
A |
G |
5: 135,278,544 (GRCm39) |
V447A |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,138,863 (GRCm39) |
D93G |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,562,605 (GRCm39) |
I2318V |
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,876,901 (GRCm39) |
L258Q |
probably damaging |
Het |
| Itprid1 |
T |
C |
6: 55,874,671 (GRCm39) |
I207T |
probably damaging |
Het |
| Kmo |
T |
A |
1: 175,479,168 (GRCm39) |
C235S |
probably damaging |
Het |
| Lamc2 |
G |
A |
1: 153,061,730 (GRCm39) |
P2S |
probably benign |
Het |
| Lman2 |
G |
A |
13: 55,500,762 (GRCm39) |
P146S |
probably benign |
Het |
| Mars2 |
T |
C |
1: 55,276,673 (GRCm39) |
I92T |
probably damaging |
Het |
| Msh3 |
A |
G |
13: 92,491,330 (GRCm39) |
F27L |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,134,577 (GRCm39) |
V460A |
possibly damaging |
Het |
| Nicn1 |
T |
A |
9: 108,172,306 (GRCm39) |
*214R |
probably null |
Het |
| Nsd2 |
T |
C |
5: 34,042,855 (GRCm39) |
F1040L |
possibly damaging |
Het |
| Or1ab2 |
T |
A |
8: 72,864,001 (GRCm39) |
I197N |
possibly damaging |
Het |
| Osm |
T |
A |
11: 4,189,936 (GRCm39) |
I240N |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,479,191 (GRCm39) |
D884E |
probably benign |
Het |
| Pex5 |
T |
G |
6: 124,382,231 (GRCm39) |
D150A |
probably benign |
Het |
| Pfkfb4 |
T |
C |
9: 108,856,676 (GRCm39) |
V394A |
probably damaging |
Het |
| Pjvk |
A |
G |
2: 76,488,831 (GRCm39) |
K334R |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,807,525 (GRCm39) |
D171G |
probably benign |
Het |
| Prpf4b |
T |
G |
13: 35,078,455 (GRCm39) |
N688K |
probably benign |
Het |
| R3hcc1 |
T |
C |
14: 69,943,001 (GRCm39) |
E192G |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,596,318 (GRCm39) |
G207* |
probably null |
Het |
| Rhobtb3 |
G |
T |
13: 76,059,006 (GRCm39) |
T264K |
probably benign |
Het |
| Rpl27 |
A |
G |
11: 101,333,232 (GRCm39) |
|
probably benign |
Het |
| Rxfp3 |
C |
T |
15: 11,036,863 (GRCm39) |
V170I |
possibly damaging |
Het |
| Samd4 |
T |
A |
14: 47,254,140 (GRCm39) |
S201R |
probably benign |
Het |
| Sell |
A |
G |
1: 163,893,176 (GRCm39) |
I131V |
possibly damaging |
Het |
| Semp2l2a |
T |
A |
8: 13,887,996 (GRCm39) |
I32L |
probably benign |
Het |
| Sirpb1c |
A |
T |
3: 15,887,223 (GRCm39) |
Y205* |
probably null |
Het |
| Smc3 |
A |
T |
19: 53,630,326 (GRCm39) |
E1111V |
possibly damaging |
Het |
| Sowaha |
C |
A |
11: 53,370,182 (GRCm39) |
V185L |
probably benign |
Het |
| Spata4 |
A |
C |
8: 55,055,585 (GRCm39) |
I159L |
probably benign |
Het |
| Spring1 |
A |
G |
5: 118,393,759 (GRCm39) |
N46D |
probably benign |
Het |
| Tekt2 |
A |
G |
4: 126,216,174 (GRCm39) |
I373T |
probably benign |
Het |
| Tle7 |
G |
T |
8: 110,836,048 (GRCm39) |
R119I |
probably benign |
Het |
| Tomm20l |
T |
C |
12: 71,164,313 (GRCm39) |
V65A |
probably benign |
Het |
| Trabd2b |
A |
G |
4: 114,266,547 (GRCm39) |
D187G |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,758,613 (GRCm39) |
I2147V |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,324,429 (GRCm39) |
C440* |
probably null |
Het |
| Ube3b |
A |
C |
5: 114,544,313 (GRCm39) |
N570T |
probably damaging |
Het |
| Uevld |
A |
G |
7: 46,600,724 (GRCm39) |
I70T |
probably damaging |
Het |
| Usp10 |
C |
T |
8: 120,663,289 (GRCm39) |
T37I |
possibly damaging |
Het |
| Vmn2r23 |
T |
A |
6: 123,689,981 (GRCm39) |
F286I |
probably benign |
Het |
| Vmn2r62 |
A |
G |
7: 42,414,640 (GRCm39) |
V601A |
probably benign |
Het |
| Wdr81 |
G |
C |
11: 75,336,828 (GRCm39) |
N401K |
|
Het |
| Ythdc2 |
G |
T |
18: 44,966,189 (GRCm39) |
V142F |
probably benign |
Het |
| Zfp346 |
T |
C |
13: 55,253,263 (GRCm39) |
F36S |
possibly damaging |
Het |
| Zfp748 |
C |
T |
13: 67,690,358 (GRCm39) |
V301M |
possibly damaging |
Het |
| Zim1 |
T |
C |
7: 6,681,220 (GRCm39) |
K148E |
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 |
|
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 |
|
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 |
|
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'- TGAGCACTCCCTCCATGATAG -3'
(R):5'- GCTGACAGTGAATGATATGAAATGCC -3'
Sequencing Primer
(F):5'- TGATAGCCACACTCTCTCAGC -3'
(R):5'- GTGGTCATCACACTTGACAGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation