Incidental Mutation 'R7341:Chd1'
ID 569896
Institutional Source Beutler Lab
Gene Symbol Chd1
Ensembl Gene ENSMUSG00000023852
Gene Name chromodomain helicase DNA binding protein 1
Synonyms 4930525N21Rik
MMRRC Submission 045431-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7341 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 15704967-15772610 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15770237 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1684 (S1684P)
Ref Sequence ENSEMBL: ENSMUSP00000024627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024627]
AlphaFold P40201
Predicted Effect probably damaging
Transcript: ENSMUST00000024627
AA Change: S1684P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024627
Gene: ENSMUSG00000023852
AA Change: S1684P

DomainStartEndE-ValueType
low complexity region 17 67 N/A INTRINSIC
low complexity region 105 115 N/A INTRINSIC
low complexity region 116 136 N/A INTRINSIC
low complexity region 151 175 N/A INTRINSIC
low complexity region 213 230 N/A INTRINSIC
CHROMO 268 355 6.43e-20 SMART
CHROMO 385 443 1.19e-14 SMART
DEXDc 475 672 3.44e-34 SMART
Blast:DEXDc 692 786 2e-54 BLAST
low complexity region 787 799 N/A INTRINSIC
HELICc 816 900 8.48e-25 SMART
Blast:DEXDc 955 1234 1e-112 BLAST
PDB:4B4C|A 1119 1320 1e-132 PDB
low complexity region 1325 1348 N/A INTRINSIC
low complexity region 1377 1388 N/A INTRINSIC
DUF4208 1396 1500 5.54e-51 SMART
low complexity region 1507 1516 N/A INTRINSIC
low complexity region 1538 1549 N/A INTRINSIC
low complexity region 1626 1650 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (92/92)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,299,867 (GRCm38) D282N probably damaging Het
Adam3 T A 8: 24,687,980 (GRCm38) N639I possibly damaging Het
Adamtsl3 T A 7: 82,556,874 (GRCm38) C756S probably damaging Het
AI314180 A T 4: 58,809,415 (GRCm38) V1653D possibly damaging Het
Arhgap31 C T 16: 38,712,514 (GRCm38) probably null Het
Ascl4 G A 10: 85,928,665 (GRCm38) A59T possibly damaging Het
Ash1l T A 3: 88,981,759 (GRCm38) I315N possibly damaging Het
Atp6v0d2 T C 4: 19,887,330 (GRCm38) D206G possibly damaging Het
Baz1b T A 5: 135,223,116 (GRCm38) L923I probably damaging Het
BC067074 G T 13: 113,318,172 (GRCm38) G251C Het
Birc6 T A 17: 74,612,074 (GRCm38) N1966K probably damaging Het
Bod1l T C 5: 41,788,857 (GRCm38) N3025S probably benign Het
Bub1b C A 2: 118,636,786 (GRCm38) H863Q possibly damaging Het
C1rb T A 6: 124,577,452 (GRCm38) Y397* probably null Het
Ccdc180 A G 4: 45,898,644 (GRCm38) E164G possibly damaging Het
Ccdc9 C T 7: 16,280,627 (GRCm38) V230M probably damaging Het
Cchcr1 C A 17: 35,526,713 (GRCm38) N437K probably benign Het
Cdhr2 T A 13: 54,719,492 (GRCm38) L408Q probably damaging Het
Cep89 G A 7: 35,429,928 (GRCm38) R630H probably damaging Het
CN725425 A G 15: 91,242,670 (GRCm38) Y221C possibly damaging Het
Col4a2 T C 8: 11,398,678 (GRCm38) V66A probably damaging Het
Cpd C A 11: 76,846,953 (GRCm38) R5L unknown Het
Cpeb4 C T 11: 31,918,807 (GRCm38) T422I possibly damaging Het
Cyp1a1 G T 9: 57,700,824 (GRCm38) R245L probably damaging Het
Cyp4f39 A G 17: 32,486,954 (GRCm38) T340A probably damaging Het
Cyp4v3 A T 8: 45,321,750 (GRCm38) F122L probably benign Het
Drc1 T A 5: 30,364,468 (GRCm38) L728Q probably damaging Het
Dsel C T 1: 111,861,573 (GRCm38) G411S probably damaging Het
Ermp1 T A 19: 29,646,254 (GRCm38) H112L probably benign Het
Exoc8 T C 8: 124,896,581 (GRCm38) D349G probably damaging Het
Fam151a T A 4: 106,735,510 (GRCm38) M63K probably benign Het
Fmo9 C A 1: 166,676,546 (GRCm38) G149V probably damaging Het
Fndc8 A G 11: 82,898,777 (GRCm38) T254A possibly damaging Het
Foxi3 G A 6: 70,960,878 (GRCm38) V365I probably benign Het
Frem2 C T 3: 53,654,495 (GRCm38) G864S probably damaging Het
Fstl5 T A 3: 76,482,397 (GRCm38) probably null Het
Garnl3 T A 2: 33,034,129 (GRCm38) E247V probably damaging Het
Gdi1 G A X: 74,306,855 (GRCm38) R55H probably benign Het
Gorasp1 T A 9: 119,937,534 (GRCm38) probably benign Het
Hcar2 T C 5: 123,864,478 (GRCm38) N321D possibly damaging Het
Hoxb6 G T 11: 96,299,569 (GRCm38) M131I probably damaging Het
Kif13a A G 13: 46,826,745 (GRCm38) V177A probably damaging Het
Limch1 C T 5: 67,034,202 (GRCm38) T794I probably benign Het
Lmbrd2 A G 15: 9,165,819 (GRCm38) Y260C possibly damaging Het
Lmo7 A G 14: 101,885,512 (GRCm38) N379S probably benign Het
Lrp6 G T 6: 134,450,818 (GRCm38) P1604T probably damaging Het
Lrrc14 A T 15: 76,714,511 (GRCm38) E449V probably damaging Het
Lrrc8c T C 5: 105,607,267 (GRCm38) Y303H probably damaging Het
Mecr T G 4: 131,843,675 (GRCm38) V58G probably null Het
Med12l T A 3: 59,042,403 (GRCm38) D193E possibly damaging Het
Moap1 T C 12: 102,743,179 (GRCm38) E37G probably damaging Het
Mrgprb2 T A 7: 48,552,896 (GRCm38) Y27F probably benign Het
Ms4a6d G A 19: 11,590,073 (GRCm38) Q155* probably null Het
Ndufs5 A T 4: 123,715,951 (GRCm38) C43* probably null Het
Oaz2 A T 9: 65,688,901 (GRCm38) D83V Het
Olfr204 T A 16: 59,315,149 (GRCm38) N86I possibly damaging Het
Olfr329-ps A T 11: 58,542,707 (GRCm38) Y269* probably null Het
Palm A G 10: 79,816,863 (GRCm38) T191A probably damaging Het
Pclo C A 5: 14,675,836 (GRCm38) D1569E unknown Het
Ppid T A 3: 79,600,297 (GRCm38) D264E probably benign Het
Ppp1r3a A G 6: 14,718,750 (GRCm38) S722P probably damaging Het
Ranbp2 A G 10: 58,485,797 (GRCm38) S2639G possibly damaging Het
Rbak T C 5: 143,176,072 (GRCm38) T68A probably benign Het
Rbm15b C T 9: 106,885,047 (GRCm38) G641R probably benign Het
Rgsl1 A G 1: 153,793,845 (GRCm38) I265T probably benign Het
Rmdn1 T A 4: 19,586,837 (GRCm38) Y98* probably null Het
Sfxn3 T G 19: 45,049,262 (GRCm38) N52K probably benign Het
Slc17a3 G T 13: 23,846,884 (GRCm38) G182* probably null Het
Slc29a3 A T 10: 60,750,658 (GRCm38) Y10N probably benign Het
Slc43a1 T C 2: 84,862,934 (GRCm38) Y577H probably damaging Het
Smarcd3 T A 5: 24,595,437 (GRCm38) I210F possibly damaging Het
Snapc4 A T 2: 26,369,261 (GRCm38) S626T probably benign Het
Sp5 T A 2: 70,476,697 (GRCm38) L242* probably null Het
Spata25 C G 2: 164,827,662 (GRCm38) G143A probably damaging Het
Spata6 T A 4: 111,768,738 (GRCm38) Y101* probably null Het
Tdp2 T G 13: 24,832,076 (GRCm38) S89A probably benign Het
Tlr6 T C 5: 64,953,629 (GRCm38) E645G probably benign Het
Tmem209 T C 6: 30,494,795 (GRCm38) I355V probably benign Het
Trappc8 A T 18: 20,852,647 (GRCm38) Y646N probably damaging Het
Tspoap1 A G 11: 87,766,379 (GRCm38) N399S probably damaging Het
Ube4b A G 4: 149,343,001 (GRCm38) Y897H probably damaging Het
Urb1 CACTTAC CAC 16: 90,772,573 (GRCm38) probably benign Het
Usp9y A T Y: 1,315,759 (GRCm38) probably null Het
Vmn2r1 T C 3: 64,105,456 (GRCm38) *913Q probably null Het
Vmn2r12 C T 5: 109,091,945 (GRCm38) A251T possibly damaging Het
Vmn2r12 T A 5: 109,086,247 (GRCm38) T700S possibly damaging Het
Wdr70 A C 15: 7,924,244 (GRCm38) F389V possibly damaging Het
Wdr91 A T 6: 34,891,460 (GRCm38) M442K possibly damaging Het
Ydjc T C 16: 17,150,898 (GRCm38) C234R probably benign Het
Zfp72 A G 13: 74,372,348 (GRCm38) Y204H possibly damaging 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
R0372:Chd1 UTSW 17 17,387,290 (GRCm38) missense probably benign 0.14
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
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'- TGTCACTCTGACCACCGATC -3'
(R):5'- ATAGACCTTGCGTCCTGGAGAG -3'

Sequencing Primer
(F):5'- GATCTCACTCGGACCATCGAATG -3'
(R):5'- CCTTGCGTCCTGGAGAGAAGTAAC -3'
Posted On 2019-09-13