Incidental Mutation 'R6283:Chd1l'
ID 508036
Institutional Source Beutler Lab
Gene Symbol Chd1l
Ensembl Gene ENSMUSG00000028089
Gene Name chromodomain helicase DNA binding protein 1-like
Synonyms Snf2p, 4432404A22Rik
MMRRC Submission 044453-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # R6283 (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

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
Meta Mutation Damage Score 0.3595 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (59/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 C A 8: 123,512,694 (GRCm39) R372S probably damaging Het
Adamts20 A G 15: 94,249,602 (GRCm39) S472P probably benign Het
Bhlhe40 T C 6: 108,641,992 (GRCm39) L312P probably damaging Het
Ccdc180 A G 4: 45,902,486 (GRCm39) E305G possibly damaging Het
Ccdc83 T A 7: 89,885,615 (GRCm39) R257* probably null Het
Cd209e G A 8: 3,899,212 (GRCm39) Q167* probably null Het
Cd300e G A 11: 114,945,380 (GRCm39) T138I probably benign Het
Ces2c A T 8: 105,576,331 (GRCm39) M115L probably benign Het
Cfap61 T A 2: 145,971,022 (GRCm39) probably null Het
Cic C T 7: 24,985,459 (GRCm39) S301L probably damaging Het
Cks2 A G 13: 51,799,495 (GRCm39) H16R probably benign Het
Copa A T 1: 171,946,415 (GRCm39) H953L possibly damaging Het
Ctdsp2 T C 10: 126,831,749 (GRCm39) V145A possibly damaging Het
Cyp2j13 A G 4: 95,945,074 (GRCm39) V377A possibly damaging Het
Dhx57 A G 17: 80,582,234 (GRCm39) V404A probably benign Het
Dock2 T C 11: 34,598,152 (GRCm39) S340G probably damaging Het
Ggps1 A G 13: 14,232,379 (GRCm39) probably null Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11444 T C 11: 85,737,617 (GRCm39) probably null Het
Grina A G 15: 76,132,751 (GRCm39) T173A possibly damaging Het
Hcrtr1 G A 4: 130,029,133 (GRCm39) T223I probably benign Het
Igsf10 T A 3: 59,226,870 (GRCm39) T2268S probably damaging Het
Inhca G A 9: 103,159,834 (GRCm39) R14* probably null Het
Ino80d C T 1: 63,101,285 (GRCm39) R447Q probably damaging Het
Inpp4b C T 8: 82,497,462 (GRCm39) T94M probably damaging Het
Itga2 A G 13: 115,005,786 (GRCm39) Y465H probably damaging Het
Knl1 A G 2: 118,900,767 (GRCm39) T823A probably damaging Het
Krtap4-16 A G 11: 99,741,861 (GRCm39) S180P unknown Het
Ldc1 A G 4: 130,115,534 (GRCm39) S5P probably benign Het
Lpar6 A T 14: 73,476,297 (GRCm39) D86V probably damaging Het
Muc5ac C A 7: 141,370,601 (GRCm39) C2500* probably null Het
Mzf1 T C 7: 12,787,296 (GRCm39) probably benign Het
Or4f58 A C 2: 111,851,605 (GRCm39) M198R possibly damaging Het
Or5d46 T A 2: 88,170,002 (GRCm39) I31N probably benign Het
Or5m3 G T 2: 85,838,443 (GRCm39) V108L possibly damaging Het
Or7a36 T C 10: 78,820,113 (GRCm39) V163A probably benign Het
Otogl T G 10: 107,626,361 (GRCm39) E1501A probably damaging Het
Pcdh10 T A 3: 45,335,989 (GRCm39) S768T possibly damaging Het
Pcnx2 G T 8: 126,604,325 (GRCm39) Q644K probably damaging Het
Pdzd9 T A 7: 120,259,449 (GRCm39) I180F possibly damaging Het
Pinx1 A C 14: 64,115,621 (GRCm39) N152T probably benign Het
Prr14l T C 5: 32,987,608 (GRCm39) E629G probably benign Het
Qpctl T A 7: 18,882,345 (GRCm39) I104F probably benign Het
Rabep1 C T 11: 70,808,505 (GRCm39) A444V probably damaging Het
Rnf150 A G 8: 83,717,183 (GRCm39) Y230C probably damaging Het
Slc25a27 A C 17: 43,968,621 (GRCm39) V152G probably damaging Het
Swt1 A G 1: 151,260,084 (GRCm39) S772P possibly damaging Het
Tenm4 A G 7: 96,523,701 (GRCm39) T1711A probably benign Het
Tfap2d G C 1: 19,174,702 (GRCm39) G52R probably benign Het
Tmem265 T G 7: 127,164,044 (GRCm39) V86G possibly damaging Het
Trpm8 C T 1: 88,276,054 (GRCm39) H551Y probably benign Het
Ttc6 T G 12: 57,749,048 (GRCm39) Y1327D possibly damaging Het
Uevld G T 7: 46,587,729 (GRCm39) Q324K possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r73 C T 7: 85,521,049 (GRCm39) M306I probably benign Het
Vmn2r93 T A 17: 18,524,366 (GRCm39) M120K probably benign Het
Zfp804b T A 5: 6,819,908 (GRCm39) I1016F probably benign Het
Zfp90 T C 8: 107,152,026 (GRCm39) C580R probably damaging Het
Other mutations in Chd1l
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCAACGGCCTCAATTCTCTC -3'
(R):5'- TGTCTCCCTAAAGGTAGACTCC -3'

Sequencing Primer
(F):5'- CCTTTTTACCCCTTAGTAATGGC -3'
(R):5'- CCCTTGGGAATGATTAGAATTGG -3'
Posted On 2018-03-15