Incidental Mutation 'R8346:Chd1l'
| ID |
645217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd1l
|
| Ensembl Gene |
ENSMUSG00000028089 |
| Gene Name |
chromodomain helicase DNA binding protein 1-like |
| Synonyms |
Snf2p, 4432404A22Rik |
| MMRRC Submission |
067802-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.293)
|
| Stock # |
R8346 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
97468058-97517519 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97469959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 856
(N856D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029730]
|
| AlphaFold |
Q9CXF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029730
AA Change: N856D
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000029730
Gene: ENSMUSG00000028089
AA Change: N856D
| 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: 99.6%
- 20x: 98.7%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
A |
G |
14: 59,380,221 (GRCm39) |
S26P |
probably damaging |
Het |
| Aco1 |
T |
A |
4: 40,177,876 (GRCm39) |
M299K |
probably damaging |
Het |
| Acox1 |
G |
T |
11: 116,069,099 (GRCm39) |
T382N |
possibly damaging |
Het |
| Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
| App |
G |
T |
16: 84,900,145 (GRCm39) |
R102S |
unknown |
Het |
| Col11a1 |
A |
G |
3: 114,005,818 (GRCm39) |
D1650G |
unknown |
Het |
| Cx3cl1 |
T |
C |
8: 95,507,168 (GRCm39) |
V391A |
probably damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,723,617 (GRCm39) |
Y378C |
probably damaging |
Het |
| Cyp26b1 |
T |
C |
6: 84,554,150 (GRCm39) |
S156G |
probably benign |
Het |
| Cyp3a11 |
C |
T |
5: 145,795,612 (GRCm39) |
M446I |
probably damaging |
Het |
| D7Ertd443e |
G |
A |
7: 133,950,485 (GRCm39) |
T396I |
possibly damaging |
Het |
| Dusp4 |
C |
A |
8: 35,275,092 (GRCm39) |
N70K |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,632,226 (GRCm39) |
A4499T |
probably benign |
Het |
| Eno2 |
T |
C |
6: 124,740,758 (GRCm39) |
D266G |
possibly damaging |
Het |
| Eomes |
T |
C |
9: 118,314,036 (GRCm39) |
S694P |
probably benign |
Het |
| Fmo4 |
A |
G |
1: 162,621,792 (GRCm39) |
V473A |
probably benign |
Het |
| Fmo5 |
T |
A |
3: 97,552,962 (GRCm39) |
N303K |
probably damaging |
Het |
| Garin1b |
G |
A |
6: 29,334,030 (GRCm39) |
C296Y |
probably damaging |
Het |
| Gdf10 |
A |
G |
14: 33,653,802 (GRCm39) |
E103G |
probably benign |
Het |
| Gjb6 |
T |
C |
14: 57,362,259 (GRCm39) |
M1V |
probably null |
Het |
| Gm17067 |
A |
G |
7: 42,358,073 (GRCm39) |
L143P |
probably damaging |
Het |
| Helz |
A |
G |
11: 107,563,399 (GRCm39) |
D1613G |
unknown |
Het |
| Hmgn3 |
T |
C |
9: 82,993,159 (GRCm39) |
K50E |
probably damaging |
Het |
| Hoxc11 |
G |
A |
15: 102,863,186 (GRCm39) |
G76S |
possibly damaging |
Het |
| Ighv1-9 |
A |
T |
12: 114,547,448 (GRCm39) |
M31K |
probably benign |
Het |
| Ighv2-2 |
A |
T |
12: 113,552,189 (GRCm39) |
C16* |
probably null |
Het |
| Kidins220 |
T |
G |
12: 25,086,533 (GRCm39) |
F989C |
probably damaging |
Het |
| Krtap28-13 |
A |
G |
1: 83,039,086 (GRCm39) |
K124E |
unknown |
Het |
| Mast4 |
A |
G |
13: 102,887,986 (GRCm39) |
V1141A |
probably damaging |
Het |
| Myb |
A |
T |
10: 21,002,136 (GRCm39) |
M735K |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,448,434 (GRCm39) |
|
probably null |
Het |
| Naa60 |
G |
A |
16: 3,718,507 (GRCm39) |
G113D |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,725,382 (GRCm39) |
I461V |
probably benign |
Het |
| Nphp4 |
C |
A |
4: 152,645,778 (GRCm39) |
A1262D |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,976,007 (GRCm39) |
V2040E |
possibly damaging |
Het |
| Or1j4 |
A |
G |
2: 36,740,351 (GRCm39) |
I98V |
probably benign |
Het |
| Or9a2 |
A |
G |
6: 41,749,057 (GRCm39) |
Y59H |
probably damaging |
Het |
| Ormdl1 |
T |
A |
1: 53,344,626 (GRCm39) |
F63I |
possibly damaging |
Het |
| Otulinl |
A |
G |
15: 27,664,644 (GRCm39) |
Y76H |
probably damaging |
Het |
| Phc1 |
C |
T |
6: 122,302,774 (GRCm39) |
V250M |
probably damaging |
Het |
| Pik3c2b |
G |
A |
1: 133,017,984 (GRCm39) |
V949M |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Prmt8 |
T |
A |
6: 127,688,810 (GRCm39) |
M187L |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,225,547 (GRCm39) |
I513V |
probably damaging |
Het |
| Rad17 |
A |
C |
13: 100,781,681 (GRCm39) |
S39A |
possibly damaging |
Het |
| Rbck1 |
T |
C |
2: 152,160,700 (GRCm39) |
Y412C |
probably damaging |
Het |
| Rfc3 |
C |
A |
5: 151,569,100 (GRCm39) |
M152I |
probably damaging |
Het |
| Scn11a |
C |
A |
9: 119,608,047 (GRCm39) |
C1028F |
probably damaging |
Het |
| Sfmbt2 |
C |
A |
2: 10,466,236 (GRCm39) |
P357Q |
probably damaging |
Het |
| Slc22a6 |
C |
G |
19: 8,599,169 (GRCm39) |
R267G |
probably damaging |
Het |
| St3gal1 |
G |
A |
15: 66,985,511 (GRCm39) |
R48C |
probably damaging |
Het |
| Stmnd1 |
A |
G |
13: 46,452,936 (GRCm39) |
N204S |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,830,699 (GRCm39) |
V244A |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,802,350 (GRCm39) |
T518A |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,220,938 (GRCm39) |
D597G |
probably damaging |
Het |
| Zfp457 |
G |
A |
13: 67,441,862 (GRCm39) |
Q238* |
probably null |
Het |
| Zfp647 |
T |
C |
15: 76,795,928 (GRCm39) |
D244G |
probably damaging |
Het |
| Zfp870 |
T |
A |
17: 33,102,843 (GRCm39) |
E162V |
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 |
|
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 |
|
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'- ACTCTGGATCATACAAGCTAGAAAGTG -3'
(R):5'- GACATTGCAATTGTATGCTTTGC -3'
Sequencing Primer
(F):5'- TTATGTCTCATTGAAGAAGGACAGAG -3'
(R):5'- CTTTGCATGAAACCATCAAT -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation