Incidental Mutation 'R6311:Chd1l'
ID |
509763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chd1l
|
Ensembl Gene |
ENSMUSG00000028089 |
Gene Name |
chromodomain helicase DNA binding protein 1-like |
Synonyms |
Snf2p, 4432404A22Rik |
MMRRC Submission |
044469-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.243)
|
Stock # |
R6311 (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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (39/39) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy2 |
A |
G |
13: 68,773,911 (GRCm39) |
I1044T |
probably damaging |
Het |
Arhgef4 |
T |
G |
1: 34,763,062 (GRCm39) |
F773V |
unknown |
Het |
B4galnt4 |
A |
G |
7: 140,648,572 (GRCm39) |
N696S |
probably damaging |
Het |
Cdh16 |
T |
A |
8: 105,341,065 (GRCm39) |
D786V |
probably benign |
Het |
Cdh8 |
T |
C |
8: 100,127,527 (GRCm39) |
Y28C |
probably damaging |
Het |
Cgn |
C |
T |
3: 94,685,486 (GRCm39) |
|
probably benign |
Het |
Chst10 |
A |
G |
1: 38,907,128 (GRCm39) |
V174A |
probably damaging |
Het |
Clca4a |
T |
A |
3: 144,672,174 (GRCm39) |
N256I |
probably damaging |
Het |
Cntnap5a |
G |
A |
1: 116,339,836 (GRCm39) |
W698* |
probably null |
Het |
Ddx24 |
C |
A |
12: 103,390,166 (GRCm39) |
R275L |
probably damaging |
Het |
Dnmt3b |
G |
T |
2: 153,515,925 (GRCm39) |
G444V |
probably damaging |
Het |
Ermn |
A |
G |
2: 57,941,771 (GRCm39) |
F109S |
probably damaging |
Het |
Fam227a |
C |
T |
15: 79,524,895 (GRCm39) |
A190T |
probably benign |
Het |
Fstl4 |
T |
C |
11: 53,067,804 (GRCm39) |
W556R |
probably damaging |
Het |
Fut2 |
T |
A |
7: 45,299,804 (GRCm39) |
I323F |
possibly damaging |
Het |
Grik2 |
T |
G |
10: 49,454,234 (GRCm39) |
K94Q |
probably damaging |
Het |
Hsd3b5 |
T |
C |
3: 98,537,406 (GRCm39) |
R37G |
possibly damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,648,816 (GRCm39) |
|
probably null |
Het |
Lrriq1 |
A |
T |
10: 103,009,254 (GRCm39) |
D1076E |
probably benign |
Het |
Mical2 |
T |
A |
7: 111,922,765 (GRCm39) |
I590N |
probably damaging |
Het |
Mycbp2 |
A |
G |
14: 103,500,176 (GRCm39) |
L940P |
possibly damaging |
Het |
Nr6a1 |
T |
C |
2: 38,629,083 (GRCm39) |
I257V |
possibly damaging |
Het |
Or5b100-ps1 |
T |
A |
19: 12,993,935 (GRCm39) |
M116K |
probably damaging |
Het |
Or6c216 |
A |
G |
10: 129,678,776 (GRCm39) |
L45P |
possibly damaging |
Het |
Pcdhb17 |
A |
T |
18: 37,619,316 (GRCm39) |
|
probably null |
Het |
Pdcl3 |
A |
G |
1: 39,026,925 (GRCm39) |
M1V |
probably null |
Het |
Pdzd2 |
T |
A |
15: 12,458,274 (GRCm39) |
E196D |
probably damaging |
Het |
Pgm1 |
T |
C |
4: 99,827,237 (GRCm39) |
F379S |
possibly damaging |
Het |
Pgm2 |
G |
A |
5: 64,273,758 (GRCm39) |
C581Y |
probably benign |
Het |
Plbd1 |
T |
A |
6: 136,590,945 (GRCm39) |
H407L |
probably benign |
Het |
Prdm12 |
A |
G |
2: 31,544,321 (GRCm39) |
Y308C |
probably benign |
Het |
Prdm15 |
T |
C |
16: 97,600,255 (GRCm39) |
E893G |
probably null |
Het |
Slc34a1 |
A |
G |
13: 23,999,005 (GRCm39) |
T133A |
probably benign |
Het |
Slc9a8 |
T |
A |
2: 167,293,140 (GRCm39) |
S163T |
probably damaging |
Het |
Sult2a3 |
T |
C |
7: 13,845,482 (GRCm39) |
I126V |
probably benign |
Het |
Tlr1 |
C |
T |
5: 65,084,188 (GRCm39) |
D130N |
probably damaging |
Het |
Ugt3a1 |
A |
T |
15: 9,361,604 (GRCm39) |
K127* |
probably null |
Het |
Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
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 |
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'- GCAACGGCCTCAATTCTCTC -3'
(R):5'- TCTCCCTAAAGGTAGACTCCCC -3'
Sequencing Primer
(F):5'- CCTTTTTACCCCTTAGTAATGGC -3'
(R):5'- CCCTTGGGAATGATTAGAATTGG -3'
|
Posted On |
2018-04-02 |