Incidental Mutation 'R0372:Chd1'
ID 30565
Institutional Source Beutler Lab
Gene Symbol Chd1
Ensembl Gene ENSMUSG00000023852
Gene Name chromodomain helicase DNA binding protein 1
Synonyms 4930525N21Rik
MMRRC Submission 038578-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0372 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 15704967-15772610 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17387290 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 367 (C367S)
Ref Sequence ENSEMBL: ENSMUSP00000156350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024620] [ENSMUST00000232199] [ENSMUST00000232396]
AlphaFold P40201
Predicted Effect probably benign
Transcript: ENSMUST00000024620
AA Change: C367S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024620
Gene: ENSMUSG00000116564
AA Change: C367S

DomainStartEndE-ValueType
Pfam:Rio2_N 9 91 9.5e-36 PFAM
Pfam:Kdo 105 193 6.3e-8 PFAM
Pfam:RIO1 108 284 1.7e-57 PFAM
Pfam:APH 194 278 3.2e-8 PFAM
low complexity region 326 340 N/A INTRINSIC
low complexity region 501 518 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181390
Predicted Effect probably benign
Transcript: ENSMUST00000232199
Predicted Effect probably benign
Transcript: ENSMUST00000232396
AA Change: C367S

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
Meta Mutation Damage Score 0.0600 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 88.6%
Validation Efficiency 97% (70/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with arrest of epiblast development due to increased apoptosis and cell cycle defects, abnormal rostral-caudal axis patterning, and failure to gastrulate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik T A 14: 63,973,482 (GRCm38) Q99L probably damaging Het
Abca2 A G 2: 25,437,353 (GRCm38) Y641C probably damaging Het
Abhd10 A G 16: 45,736,891 (GRCm38) probably null Het
Acan G T 7: 79,100,601 (GRCm38) A1707S probably benign Het
Ankrd61 T A 5: 143,891,175 (GRCm38) R284S probably benign Het
Ap3d1 T C 10: 80,723,567 (GRCm38) K258E probably damaging Het
Arl6ip6 T G 2: 53,202,921 (GRCm38) F153V probably damaging Het
Atp2c2 C A 8: 119,757,441 (GRCm38) F930L probably benign Het
Avl9 T C 6: 56,726,324 (GRCm38) probably null Het
Axin2 A G 11: 108,923,333 (GRCm38) S16G probably damaging Het
Axin2 T A 11: 108,924,110 (GRCm38) probably benign Het
Bbs7 A T 3: 36,602,832 (GRCm38) D282E probably benign Het
Ccny A T 18: 9,345,201 (GRCm38) V191D probably damaging Het
Cdk11b A G 4: 155,641,500 (GRCm38) probably benign Het
Cnnm4 G A 1: 36,498,010 (GRCm38) V472M probably damaging Het
Cpb2 T A 14: 75,242,377 (GRCm38) I8N probably benign Het
Dusp11 A G 6: 85,958,730 (GRCm38) probably benign Het
Elmo1 T C 13: 20,572,459 (GRCm38) probably null Het
Gbf1 C T 19: 46,285,704 (GRCm38) P1726S probably benign Het
Hal A G 10: 93,507,553 (GRCm38) probably benign Het
Hlcs T C 16: 94,138,907 (GRCm38) I671V possibly damaging Het
Ifnab A G 4: 88,690,834 (GRCm38) S132P probably benign Het
Ing5 T C 1: 93,812,420 (GRCm38) I70T probably damaging Het
Ints1 T C 5: 139,772,438 (GRCm38) N228S probably damaging Het
Itgb6 T A 2: 60,627,841 (GRCm38) I523F probably benign Het
Kat2b T C 17: 53,638,537 (GRCm38) F328S possibly damaging Het
Kbtbd3 A T 9: 4,316,950 (GRCm38) I34F possibly damaging Het
Klhl11 A T 11: 100,463,522 (GRCm38) I491N probably damaging Het
Lmo7 A T 14: 101,918,053 (GRCm38) probably benign Het
Lrp1 G T 10: 127,592,136 (GRCm38) P523T probably damaging Het
Lrp1b T A 2: 40,730,798 (GRCm38) D3556V probably benign Het
Lrp2 T A 2: 69,535,043 (GRCm38) H262L probably benign Het
Lrrc27 T A 7: 139,226,187 (GRCm38) I256K probably benign Het
Lrrc47 G A 4: 154,019,632 (GRCm38) R523K probably benign Het
Lrrc71 A T 3: 87,745,777 (GRCm38) S111T probably benign Het
Map3k7cl T C 16: 87,581,212 (GRCm38) V72A probably damaging Het
Mphosph10 G T 7: 64,388,855 (GRCm38) probably benign Het
Nlrp4a T C 7: 26,449,232 (GRCm38) probably benign Het
Nsd2 A T 5: 33,891,551 (GRCm38) M1140L probably damaging Het
Nt5dc3 T C 10: 86,825,291 (GRCm38) M440T possibly damaging Het
Olfr183 T C 16: 59,000,087 (GRCm38) V134A probably benign Het
Oog4 A T 4: 143,437,689 (GRCm38) L424Q probably damaging Het
Orc5 A T 5: 22,533,784 (GRCm38) Y160N possibly damaging Het
Papola T C 12: 105,818,838 (GRCm38) F410L probably benign Het
Pcdh10 A G 3: 45,379,497 (GRCm38) E82G probably damaging Het
Pcdh20 T C 14: 88,469,003 (GRCm38) Y287C probably damaging Het
Pld1 T A 3: 28,088,638 (GRCm38) probably null Het
Plekha8 G A 6: 54,616,758 (GRCm38) probably null Het
Ppbp C T 5: 90,769,343 (GRCm38) T93M possibly damaging Het
Prpsap2 A G 11: 61,741,000 (GRCm38) I177T possibly damaging Het
Rab3gap2 C T 1: 185,262,694 (GRCm38) T810M possibly damaging Het
Rassf9 A G 10: 102,546,011 (GRCm38) N418S possibly damaging Het
Rnf20 C G 4: 49,650,176 (GRCm38) R582G possibly damaging Het
Serpine2 T C 1: 79,821,430 (GRCm38) I36V probably damaging Het
Sf3b2 C T 19: 5,274,824 (GRCm38) D845N probably damaging Het
Slc24a2 A T 4: 87,227,292 (GRCm38) V175E probably damaging Het
Sned1 T C 1: 93,285,951 (GRCm38) probably benign Het
Snrnp40 C G 4: 130,378,043 (GRCm38) probably null Het
Spg11 GCC G 2: 122,059,447 (GRCm38) probably null Het
Tecrl C T 5: 83,294,659 (GRCm38) C189Y probably damaging Het
Tert A G 13: 73,648,991 (GRCm38) D1116G probably damaging Het
Thnsl2 T C 6: 71,139,790 (GRCm38) Y126C probably damaging Het
Tll2 T C 19: 41,183,313 (GRCm38) probably null Het
Ubqln4 C T 3: 88,555,969 (GRCm38) S147L probably benign Het
Ugt2b5 A T 5: 87,140,258 (GRCm38) C17S probably benign Het
Vps41 A T 13: 18,842,247 (GRCm38) Q505L probably benign Het
Zfp386 T C 12: 116,054,816 (GRCm38) M35T possibly damaging Het
Zfp777 T C 6: 48,044,476 (GRCm38) M71V possibly damaging Het
Zfp938 A T 10: 82,227,828 (GRCm38) L34Q probably damaging Het
Zfp974 A T 7: 27,920,695 (GRCm38) probably null Het
Other mutations in Chd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Chd1 APN 17 15,732,565 (GRCm38) missense probably benign 0.37
IGL01356:Chd1 APN 17 15,749,865 (GRCm38) missense probably damaging 1.00
IGL01369:Chd1 APN 17 15,754,997 (GRCm38) missense probably damaging 0.97
IGL01519:Chd1 APN 17 17,378,569 (GRCm38) missense probably damaging 1.00
IGL01604:Chd1 APN 17 15,770,097 (GRCm38) missense possibly damaging 0.95
IGL01635:Chd1 APN 17 17,378,596 (GRCm38) missense probably damaging 1.00
IGL01721:Chd1 APN 17 15,770,168 (GRCm38) missense probably damaging 1.00
IGL01959:Chd1 APN 17 15,742,173 (GRCm38) missense probably damaging 1.00
IGL02367:Chd1 APN 17 17,390,053 (GRCm38) missense probably damaging 0.98
IGL02476:Chd1 APN 17 15,734,273 (GRCm38) missense probably damaging 1.00
IGL02756:Chd1 APN 17 15,730,807 (GRCm38) missense probably damaging 0.97
IGL02817:Chd1 APN 17 15,749,500 (GRCm38) missense possibly damaging 0.92
IGL03084:Chd1 APN 17 15,770,298 (GRCm38) missense probably benign 0.22
IGL03108:Chd1 APN 17 15,725,281 (GRCm38) missense possibly damaging 0.70
Holly UTSW 17 15,726,283 (GRCm38) missense possibly damaging 0.72
R0053:Chd1 UTSW 17 15,747,189 (GRCm38) missense probably damaging 1.00
R0053:Chd1 UTSW 17 15,747,189 (GRCm38) missense probably damaging 1.00
R0128:Chd1 UTSW 17 17,393,567 (GRCm38) missense probably damaging 1.00
R0197:Chd1 UTSW 17 15,725,431 (GRCm38) missense probably benign
R0285:Chd1 UTSW 17 17,374,680 (GRCm38) splice site probably benign
R0326:Chd1 UTSW 17 15,768,568 (GRCm38) missense probably benign
R0326:Chd1 UTSW 17 15,768,566 (GRCm38) missense probably damaging 1.00
R0391:Chd1 UTSW 17 15,749,894 (GRCm38) missense probably damaging 1.00
R0486:Chd1 UTSW 17 15,734,342 (GRCm38) missense probably damaging 0.99
R0637:Chd1 UTSW 17 15,742,288 (GRCm38) missense possibly damaging 0.50
R0675:Chd1 UTSW 17 15,758,261 (GRCm38) unclassified probably benign
R0701:Chd1 UTSW 17 15,725,431 (GRCm38) missense probably benign
R0788:Chd1 UTSW 17 15,707,114 (GRCm38) missense possibly damaging 0.86
R0848:Chd1 UTSW 17 15,770,241 (GRCm38) missense probably damaging 1.00
R0883:Chd1 UTSW 17 15,725,431 (GRCm38) missense probably benign
R1169:Chd1 UTSW 17 15,735,732 (GRCm38) missense probably damaging 1.00
R1218:Chd1 UTSW 17 15,725,312 (GRCm38) missense probably damaging 1.00
R1370:Chd1 UTSW 17 17,387,480 (GRCm38) missense probably benign 0.00
R1470:Chd1 UTSW 17 15,726,283 (GRCm38) missense possibly damaging 0.72
R1470:Chd1 UTSW 17 15,726,283 (GRCm38) missense possibly damaging 0.72
R1478:Chd1 UTSW 17 15,739,507 (GRCm38) missense probably damaging 0.99
R1752:Chd1 UTSW 17 15,743,232 (GRCm38) critical splice donor site probably null
R1759:Chd1 UTSW 17 17,387,271 (GRCm38) missense probably benign 0.00
R1767:Chd1 UTSW 17 15,770,303 (GRCm38) missense probably damaging 1.00
R1938:Chd1 UTSW 17 15,762,486 (GRCm38) missense probably benign 0.39
R2007:Chd1 UTSW 17 15,731,006 (GRCm38) missense probably damaging 1.00
R2069:Chd1 UTSW 17 15,742,294 (GRCm38) missense probably damaging 1.00
R3771:Chd1 UTSW 17 17,374,651 (GRCm38) missense probably damaging 1.00
R3773:Chd1 UTSW 17 17,374,651 (GRCm38) missense probably damaging 1.00
R3849:Chd1 UTSW 17 15,731,871 (GRCm38) missense probably damaging 1.00
R4241:Chd1 UTSW 17 15,770,027 (GRCm38) nonsense probably null
R4242:Chd1 UTSW 17 15,770,027 (GRCm38) nonsense probably null
R4354:Chd1 UTSW 17 17,390,001 (GRCm38) missense probably benign 0.23
R4468:Chd1 UTSW 17 15,760,395 (GRCm38) missense probably damaging 0.99
R4469:Chd1 UTSW 17 15,760,395 (GRCm38) missense probably damaging 0.99
R4731:Chd1 UTSW 17 17,377,817 (GRCm38) missense probably benign 0.36
R4824:Chd1 UTSW 17 15,733,124 (GRCm38) missense probably damaging 1.00
R4840:Chd1 UTSW 17 15,768,754 (GRCm38) missense probably damaging 1.00
R4840:Chd1 UTSW 17 15,768,753 (GRCm38) nonsense probably null
R4880:Chd1 UTSW 17 17,374,654 (GRCm38) missense probably damaging 1.00
R4960:Chd1 UTSW 17 15,742,231 (GRCm38) missense probably damaging 0.96
R5071:Chd1 UTSW 17 15,762,405 (GRCm38) missense probably benign
R5078:Chd1 UTSW 17 15,726,354 (GRCm38) missense possibly damaging 0.93
R5114:Chd1 UTSW 17 15,728,198 (GRCm38) missense probably benign 0.25
R5268:Chd1 UTSW 17 15,735,743 (GRCm38) missense probably damaging 1.00
R5304:Chd1 UTSW 17 15,770,268 (GRCm38) missense possibly damaging 0.55
R5304:Chd1 UTSW 17 15,754,951 (GRCm38) missense probably benign 0.01
R5307:Chd1 UTSW 17 15,732,570 (GRCm38) missense probably damaging 1.00
R5458:Chd1 UTSW 17 15,738,549 (GRCm38) missense probably damaging 1.00
R5553:Chd1 UTSW 17 17,385,613 (GRCm38) missense probably benign 0.17
R5623:Chd1 UTSW 17 15,754,932 (GRCm38) missense probably damaging 1.00
R6022:Chd1 UTSW 17 17,377,773 (GRCm38) missense probably benign 0.39
R6137:Chd1 UTSW 17 15,758,688 (GRCm38) missense probably damaging 1.00
R6257:Chd1 UTSW 17 15,730,203 (GRCm38) splice site probably null
R6373:Chd1 UTSW 17 15,738,636 (GRCm38) missense probably damaging 1.00
R6458:Chd1 UTSW 17 15,730,602 (GRCm38) missense probably benign 0.01
R6476:Chd1 UTSW 17 17,380,988 (GRCm38) critical splice donor site probably null
R6508:Chd1 UTSW 17 15,738,633 (GRCm38) missense probably benign 0.31
R6553:Chd1 UTSW 17 15,725,430 (GRCm38) missense probably benign 0.00
R6745:Chd1 UTSW 17 17,387,167 (GRCm38) missense probably benign 0.08
R7107:Chd1 UTSW 17 15,761,366 (GRCm38) missense probably damaging 0.98
R7230:Chd1 UTSW 17 15,706,937 (GRCm38) splice site probably null
R7317:Chd1 UTSW 17 15,742,274 (GRCm38) missense possibly damaging 0.71
R7341:Chd1 UTSW 17 15,770,237 (GRCm38) missense probably damaging 0.99
R7421:Chd1 UTSW 17 15,749,398 (GRCm38) missense probably benign 0.03
R7704:Chd1 UTSW 17 15,767,475 (GRCm38) missense probably benign
R7763:Chd1 UTSW 17 15,733,041 (GRCm38) missense probably damaging 1.00
R8156:Chd1 UTSW 17 15,761,404 (GRCm38) missense probably benign
R8194:Chd1 UTSW 17 17,374,475 (GRCm38) start gained probably benign
R8261:Chd1 UTSW 17 17,387,542 (GRCm38) missense probably benign 0.02
R8338:Chd1 UTSW 17 15,769,980 (GRCm38) missense probably damaging 1.00
R8401:Chd1 UTSW 17 15,743,211 (GRCm38) missense probably damaging 1.00
R8411:Chd1 UTSW 17 15,762,449 (GRCm38) missense probably damaging 0.98
R9067:Chd1 UTSW 17 15,730,845 (GRCm38) missense possibly damaging 0.49
R9184:Chd1 UTSW 17 15,742,289 (GRCm38) missense possibly damaging 0.71
R9210:Chd1 UTSW 17 15,730,505 (GRCm38) missense possibly damaging 0.70
R9212:Chd1 UTSW 17 15,730,505 (GRCm38) missense possibly damaging 0.70
R9666:Chd1 UTSW 17 15,735,714 (GRCm38) missense probably damaging 1.00
R9673:Chd1 UTSW 17 15,768,761 (GRCm38) missense probably benign 0.24
Z1176:Chd1 UTSW 17 15,768,733 (GRCm38) missense probably damaging 1.00
Z1176:Chd1 UTSW 17 15,766,347 (GRCm38) missense probably damaging 0.98
Z1177:Chd1 UTSW 17 15,747,801 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAACTGCTACATCCAGTAGGCCC -3'
(R):5'- CCTGAACTCCCTGTTCACTGATGAC -3'

Sequencing Primer
(F):5'- GTAGGCCCAGATGATAAAATTACTG -3'
(R):5'- CTGTTCACTGATGACAAGGC -3'
Posted On 2013-04-24