Incidental Mutation 'IGL01349:Chd1l'
ID 75266
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL01349
Quality Score
Status
Chromosome 3
Chromosomal Location 97468058-97517519 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97498550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 283 (Y283C)
Ref Sequence ENSEMBL: ENSMUSP00000029730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029730]
AlphaFold Q9CXF7
Predicted Effect probably benign
Transcript: ENSMUST00000029730
AA Change: Y283C

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000029730
Gene: ENSMUSG00000028089
AA Change: Y283C

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,242,076 (GRCm39) S1313L probably benign Het
Adam28 T C 14: 68,848,455 (GRCm39) H667R probably benign Het
Arap1 T C 7: 101,036,359 (GRCm39) V382A possibly damaging Het
Arih2 T C 9: 108,482,609 (GRCm39) Y444C probably damaging Het
Asxl3 T G 18: 22,657,294 (GRCm39) V1768G probably benign Het
Bbs9 T A 9: 22,798,979 (GRCm39) M869K probably benign Het
C4bp A G 1: 130,570,665 (GRCm39) probably benign Het
Cc2d2a A T 5: 43,881,126 (GRCm39) Y1167F probably benign Het
Cgn T A 3: 94,674,486 (GRCm39) K884* probably null Het
Cry1 A G 10: 84,984,603 (GRCm39) V157A probably benign Het
Dcc T A 18: 71,503,808 (GRCm39) D950V probably damaging Het
Dlc1 A G 8: 37,050,978 (GRCm39) F918L probably damaging Het
Dnah2 T C 11: 69,366,432 (GRCm39) N1890S probably damaging Het
Dnah5 A G 15: 28,295,059 (GRCm39) probably benign Het
Eif4b C T 15: 101,999,858 (GRCm39) T412I probably benign Het
Eloa A C 4: 135,741,758 (GRCm39) Y29D probably benign Het
Erbb4 A G 1: 68,385,752 (GRCm39) F279S probably benign Het
Etl4 A G 2: 20,718,207 (GRCm39) D316G probably damaging Het
Gm5114 T C 7: 39,058,531 (GRCm39) S363G probably benign Het
Gpam A G 19: 55,084,551 (GRCm39) probably null Het
Il17rd T A 14: 26,817,901 (GRCm39) S197T probably damaging Het
Iqsec3 T C 6: 121,450,083 (GRCm39) E147G possibly damaging Het
Itk T A 11: 46,232,027 (GRCm39) T303S possibly damaging Het
Kcnh6 A G 11: 105,914,743 (GRCm39) D716G possibly damaging Het
Lca5 A G 9: 83,308,670 (GRCm39) S59P probably damaging Het
Lrrc40 T C 3: 157,764,302 (GRCm39) probably benign Het
Mmp7 T C 9: 7,699,335 (GRCm39) probably benign Het
Mycbp2 T C 14: 103,359,983 (GRCm39) T4427A probably damaging Het
Nf2 T C 11: 4,734,472 (GRCm39) D513G possibly damaging Het
Or2y1b T A 11: 49,209,127 (GRCm39) Y251* probably null Het
Pde7a C T 3: 19,283,843 (GRCm39) probably benign Het
Pira2 T C 7: 3,847,138 (GRCm39) T135A probably damaging Het
Rb1 T C 14: 73,506,558 (GRCm39) Y397C probably damaging Het
Ros1 A T 10: 51,927,122 (GRCm39) M2187K probably damaging Het
Ryr2 T A 13: 11,602,125 (GRCm39) I4586F possibly damaging Het
Serpinb3c A T 1: 107,200,513 (GRCm39) M210K probably damaging Het
Slc22a19 C A 19: 7,651,792 (GRCm39) V472F probably benign Het
Slc4a11 A G 2: 130,528,863 (GRCm39) I462T probably benign Het
Spag11b A T 8: 19,191,492 (GRCm39) H55L probably damaging Het
Trpv5 G T 6: 41,652,309 (GRCm39) N125K possibly damaging Het
Ubr4 G T 4: 139,208,039 (GRCm39) R4940L unknown Het
Vcan T A 13: 89,852,062 (GRCm39) H966L probably damaging Het
Vmn1r204 T A 13: 22,740,504 (GRCm39) I45K probably damaging Het
Vnn3 A T 10: 23,727,814 (GRCm39) I75F probably damaging Het
Vps13b A T 15: 35,794,091 (GRCm39) M2256L probably benign Het
Zfc3h1 T A 10: 115,259,353 (GRCm39) L1642M probably damaging Het
Other mutations in Chd1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Chd1l APN 3 97,497,921 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2013-10-07