Incidental Mutation 'R0128:Chd1'
ID 21529
Institutional Source Beutler Lab
Gene Symbol Chd1
Ensembl Gene ENSMUSG00000023852
Gene Name chromodomain helicase DNA binding protein 1
Synonyms 4930525N21Rik
MMRRC Submission 038413-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0128 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 17
Chromosomal Location 15704967-15772610 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17393567 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 531 (N531S)
Ref Sequence ENSEMBL: ENSMUSP00000024620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024620]
AlphaFold P40201
Predicted Effect probably damaging
Transcript: ENSMUST00000024620
AA Change: N531S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024620
Gene: ENSMUSG00000116564
AA Change: N531S

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
Meta Mutation Damage Score 0.1945 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.6%
  • 10x: 93.0%
  • 20x: 79.3%
Validation Efficiency 99% (84/85)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,575,639 (GRCm38) probably benign Het
Abcd4 T G 12: 84,612,352 (GRCm38) Q210P possibly damaging Het
Ablim2 G A 5: 35,809,176 (GRCm38) probably benign Het
Actl6b A G 5: 137,555,065 (GRCm38) N113S probably benign Het
Actn3 A T 19: 4,871,615 (GRCm38) V179E probably damaging Het
Aff4 C A 11: 53,415,466 (GRCm38) T1145N probably damaging Het
Ankrd42 G A 7: 92,591,859 (GRCm38) Q431* probably null Het
Anxa9 A G 3: 95,302,422 (GRCm38) S129P probably benign Het
Arfgef2 T G 2: 166,835,719 (GRCm38) I88S probably damaging Het
Asap3 C A 4: 136,234,604 (GRCm38) N285K probably damaging Het
Atp6v0a2 A G 5: 124,713,184 (GRCm38) N477S probably damaging Het
Atp7b C T 8: 22,028,172 (GRCm38) E205K possibly damaging Het
Atp8b5 T A 4: 43,369,715 (GRCm38) probably null Het
C87436 G A 6: 86,469,827 (GRCm38) G533D probably damaging Het
Ccdc138 T A 10: 58,528,360 (GRCm38) I314N probably damaging Het
Ccs A G 19: 4,825,626 (GRCm38) F237S probably damaging Het
Ccz1 T G 5: 144,009,294 (GRCm38) probably benign Het
Cdcp2 C T 4: 107,106,707 (GRCm38) probably benign Het
Clptm1 A T 7: 19,635,007 (GRCm38) F476I probably damaging Het
Colec12 C T 18: 9,858,921 (GRCm38) P568L unknown Het
Cped1 T A 6: 22,121,039 (GRCm38) Y373N probably benign Het
Cr2 A T 1: 195,166,231 (GRCm38) V328D probably damaging Het
D630045J12Rik A T 6: 38,149,771 (GRCm38) probably benign Het
Dcdc2a A T 13: 25,187,672 (GRCm38) probably benign Het
Dlg1 G T 16: 31,858,065 (GRCm38) probably null Het
Epb41l5 A C 1: 119,549,902 (GRCm38) V705G possibly damaging Het
Ergic3 C A 2: 156,011,140 (GRCm38) R43S possibly damaging Het
Flnb T C 14: 7,901,951 (GRCm38) V938A probably damaging Het
Frmd4a T C 2: 4,604,092 (GRCm38) Y928H probably damaging Het
Fyn C T 10: 39,511,982 (GRCm38) T78M probably benign Het
Gdap2 A G 3: 100,201,995 (GRCm38) T443A probably damaging Het
Ghrl A T 6: 113,717,168 (GRCm38) probably benign Het
Gm1141 T C X: 71,939,555 (GRCm38) C378R possibly damaging Het
Gm12166 A G 11: 46,052,293 (GRCm38) M1T probably null Het
Gm4787 T A 12: 81,377,747 (GRCm38) K546* probably null Het
Gm498 G T 7: 143,891,755 (GRCm38) G178C probably damaging Het
Gm6576 C G 15: 27,026,000 (GRCm38) noncoding transcript Het
Got1 C T 19: 43,524,377 (GRCm38) D27N probably benign Het
Gucy2c C T 6: 136,704,249 (GRCm38) V946I probably damaging Het
Hectd4 T C 5: 121,349,243 (GRCm38) Y3434H possibly damaging Het
Hp1bp3 C T 4: 138,237,209 (GRCm38) S348F probably damaging Het
Itpr1 A G 6: 108,471,209 (GRCm38) probably benign Het
Kctd1 G A 18: 14,974,180 (GRCm38) P743S probably benign Het
Klhl23 T C 2: 69,833,966 (GRCm38) V553A probably damaging Het
Krt24 T C 11: 99,280,267 (GRCm38) D495G probably damaging Het
L3hypdh C T 12: 72,077,143 (GRCm38) probably null Het
Lipo3 C T 19: 33,557,106 (GRCm38) probably null Het
Lman2l G T 1: 36,424,864 (GRCm38) S171* probably null Het
Lrp1b T C 2: 41,511,508 (GRCm38) D378G probably damaging Het
Map3k4 T A 17: 12,248,063 (GRCm38) D1104V probably damaging Het
Mpeg1 T C 19: 12,461,223 (GRCm38) V15A probably benign Het
Narf C T 11: 121,250,836 (GRCm38) R356C probably damaging Het
Nebl T A 2: 17,393,023 (GRCm38) Q487H possibly damaging Het
Olfm5 G A 7: 104,160,926 (GRCm38) A76V probably benign Het
Olfr1090 T C 2: 86,753,887 (GRCm38) M284V probably benign Het
Olfr339 T A 2: 36,422,287 (GRCm38) D296E probably benign Het
Olfr372 C T 8: 72,058,400 (GRCm38) T240M probably damaging Het
Olfr656 A T 7: 104,618,581 (GRCm38) I301F probably damaging Het
Olfr992 T A 2: 85,399,961 (GRCm38) S191C probably damaging Het
Palb2 A T 7: 122,128,166 (GRCm38) Y160* probably null Het
Paxip1 C T 5: 27,744,185 (GRCm38) probably benign Het
Pclo A G 5: 14,679,797 (GRCm38) probably benign Het
Pdcd11 G A 19: 47,119,862 (GRCm38) V1223I probably benign Het
Pde6c T C 19: 38,169,365 (GRCm38) probably benign Het
Prr12 A G 7: 45,050,039 (GRCm38) probably benign Het
Prss39 T A 1: 34,502,200 (GRCm38) probably benign Het
Samd5 A G 10: 9,674,939 (GRCm38) W9R probably damaging Het
Sfr1 A G 19: 47,735,018 (GRCm38) *320W probably null Het
Sh3bp4 A G 1: 89,145,314 (GRCm38) N628S possibly damaging Het
Sim1 A T 10: 50,907,961 (GRCm38) I104F probably damaging Het
Slc1a3 T C 15: 8,636,209 (GRCm38) M519V probably benign Het
Smcp T A 3: 92,584,520 (GRCm38) T7S unknown Het
Sp4 A G 12: 118,300,816 (GRCm38) probably benign Het
Spag9 T A 11: 94,093,539 (GRCm38) I327N probably damaging Het
Thbs4 G T 13: 92,754,410 (GRCm38) H850N probably benign Het
Ubap2l A T 3: 90,021,373 (GRCm38) S478T possibly damaging Het
Unc79 A G 12: 103,088,434 (GRCm38) probably benign Het
Vmn2r85 A G 10: 130,419,185 (GRCm38) probably benign Het
Wrap73 A G 4: 154,142,500 (GRCm38) D19G 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
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
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'- TCACTAGGTGGCACTCTAGCAGTT -3'
(R):5'- GGCAGAGTCTGAACATCACAGTGAA -3'

Sequencing Primer
(F):5'- AAAACTTTCAACAGCTTCTCCTG -3'
(R):5'- AGACCTTGGAAGCTCTGAGTC -3'
Posted On 2013-04-11