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 15925229-15992872 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17607552 bp (GRCm39)
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: 64,210,931 (GRCm39) Q99L probably damaging Het
Abca2 A G 2: 25,327,365 (GRCm39) Y641C probably damaging Het
Abhd10 A G 16: 45,557,254 (GRCm39) probably null Het
Acan G T 7: 78,750,349 (GRCm39) A1707S probably benign Het
Ankrd61 T A 5: 143,827,993 (GRCm39) R284S probably benign Het
Ap3d1 T C 10: 80,559,401 (GRCm39) K258E probably damaging Het
Arl6ip6 T G 2: 53,092,933 (GRCm39) F153V probably damaging Het
Atp2c2 C A 8: 120,484,180 (GRCm39) F930L probably benign Het
Avl9 T C 6: 56,703,309 (GRCm39) probably null Het
Axin2 A G 11: 108,814,159 (GRCm39) S16G probably damaging Het
Axin2 T A 11: 108,814,936 (GRCm39) probably benign Het
Bbs7 A T 3: 36,656,981 (GRCm39) D282E probably benign Het
Ccny A T 18: 9,345,201 (GRCm39) V191D probably damaging Het
Cdk11b A G 4: 155,725,957 (GRCm39) probably benign Het
Cnnm4 G A 1: 36,537,091 (GRCm39) V472M probably damaging Het
Cpb2 T A 14: 75,479,817 (GRCm39) I8N probably benign Het
Dusp11 A G 6: 85,935,712 (GRCm39) probably benign Het
Elmo1 T C 13: 20,756,629 (GRCm39) probably null Het
Gbf1 C T 19: 46,274,143 (GRCm39) P1726S probably benign Het
Hal A G 10: 93,343,415 (GRCm39) probably benign Het
Hlcs T C 16: 93,939,766 (GRCm39) I671V possibly damaging Het
Ifnab A G 4: 88,609,071 (GRCm39) S132P probably benign Het
Ing5 T C 1: 93,740,142 (GRCm39) I70T probably damaging Het
Ints1 T C 5: 139,758,193 (GRCm39) N228S probably damaging Het
Itgb6 T A 2: 60,458,185 (GRCm39) I523F probably benign Het
Kat2b T C 17: 53,945,565 (GRCm39) F328S possibly damaging Het
Kbtbd3 A T 9: 4,316,950 (GRCm39) I34F possibly damaging Het
Klhl11 A T 11: 100,354,348 (GRCm39) I491N probably damaging Het
Lmo7 A T 14: 102,155,489 (GRCm39) probably benign Het
Lrp1 G T 10: 127,428,005 (GRCm39) P523T probably damaging Het
Lrp1b T A 2: 40,620,810 (GRCm39) D3556V probably benign Het
Lrp2 T A 2: 69,365,387 (GRCm39) H262L probably benign Het
Lrrc27 T A 7: 138,806,103 (GRCm39) I256K probably benign Het
Lrrc47 G A 4: 154,104,089 (GRCm39) R523K probably benign Het
Lrrc71 A T 3: 87,653,084 (GRCm39) S111T probably benign Het
Map3k7cl T C 16: 87,378,100 (GRCm39) V72A probably damaging Het
Mphosph10 G T 7: 64,038,603 (GRCm39) probably benign Het
Nlrp4a T C 7: 26,148,657 (GRCm39) probably benign Het
Nsd2 A T 5: 34,048,895 (GRCm39) M1140L probably damaging Het
Nt5dc3 T C 10: 86,661,155 (GRCm39) M440T possibly damaging Het
Oog4 A T 4: 143,164,259 (GRCm39) L424Q probably damaging Het
Or5h17 T C 16: 58,820,450 (GRCm39) V134A probably benign Het
Orc5 A T 5: 22,738,782 (GRCm39) Y160N possibly damaging Het
Papola T C 12: 105,785,097 (GRCm39) F410L probably benign Het
Pcdh10 A G 3: 45,333,932 (GRCm39) E82G probably damaging Het
Pcdh20 T C 14: 88,706,439 (GRCm39) Y287C probably damaging Het
Pld1 T A 3: 28,142,787 (GRCm39) probably null Het
Plekha8 G A 6: 54,593,743 (GRCm39) probably null Het
Ppbp C T 5: 90,917,202 (GRCm39) T93M possibly damaging Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Rab3gap2 C T 1: 184,994,891 (GRCm39) T810M possibly damaging Het
Rassf9 A G 10: 102,381,872 (GRCm39) N418S possibly damaging Het
Rnf20 C G 4: 49,650,176 (GRCm39) R582G possibly damaging Het
Serpine2 T C 1: 79,799,147 (GRCm39) I36V probably damaging Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Slc24a2 A T 4: 87,145,529 (GRCm39) V175E probably damaging Het
Sned1 T C 1: 93,213,673 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 GCC G 2: 121,889,928 (GRCm39) probably null Het
Tecrl C T 5: 83,442,506 (GRCm39) C189Y probably damaging Het
Tert A G 13: 73,797,110 (GRCm39) D1116G probably damaging Het
Thnsl2 T C 6: 71,116,774 (GRCm39) Y126C probably damaging Het
Tll2 T C 19: 41,171,752 (GRCm39) probably null Het
Ubqln4 C T 3: 88,463,276 (GRCm39) S147L probably benign Het
Ugt2b5 A T 5: 87,288,117 (GRCm39) C17S probably benign Het
Vps41 A T 13: 19,026,417 (GRCm39) Q505L probably benign Het
Zfp386 T C 12: 116,018,436 (GRCm39) M35T possibly damaging Het
Zfp777 T C 6: 48,021,410 (GRCm39) M71V possibly damaging Het
Zfp938 A T 10: 82,063,662 (GRCm39) L34Q probably damaging Het
Zfp974 A T 7: 27,620,120 (GRCm39) probably null Het
Other mutations in Chd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Chd1 APN 17 15,952,827 (GRCm39) missense probably benign 0.37
IGL01356:Chd1 APN 17 15,970,127 (GRCm39) missense probably damaging 1.00
IGL01369:Chd1 APN 17 15,975,259 (GRCm39) missense probably damaging 0.97
IGL01519:Chd1 APN 17 17,598,831 (GRCm39) missense probably damaging 1.00
IGL01604:Chd1 APN 17 15,990,359 (GRCm39) missense possibly damaging 0.95
IGL01635:Chd1 APN 17 17,598,858 (GRCm39) missense probably damaging 1.00
IGL01721:Chd1 APN 17 15,990,430 (GRCm39) missense probably damaging 1.00
IGL01959:Chd1 APN 17 15,962,435 (GRCm39) missense probably damaging 1.00
IGL02367:Chd1 APN 17 17,610,315 (GRCm39) missense probably damaging 0.98
IGL02476:Chd1 APN 17 15,954,535 (GRCm39) missense probably damaging 1.00
IGL02756:Chd1 APN 17 15,951,069 (GRCm39) missense probably damaging 0.97
IGL02817:Chd1 APN 17 15,969,762 (GRCm39) missense possibly damaging 0.92
IGL03084:Chd1 APN 17 15,990,560 (GRCm39) missense probably benign 0.22
IGL03108:Chd1 APN 17 15,945,543 (GRCm39) missense possibly damaging 0.70
Holly UTSW 17 15,946,545 (GRCm39) missense possibly damaging 0.72
R0053:Chd1 UTSW 17 15,967,451 (GRCm39) missense probably damaging 1.00
R0053:Chd1 UTSW 17 15,967,451 (GRCm39) missense probably damaging 1.00
R0128:Chd1 UTSW 17 17,613,829 (GRCm39) missense probably damaging 1.00
R0197:Chd1 UTSW 17 15,945,693 (GRCm39) missense probably benign
R0285:Chd1 UTSW 17 17,594,942 (GRCm39) splice site probably benign
R0326:Chd1 UTSW 17 15,988,830 (GRCm39) missense probably benign
R0326:Chd1 UTSW 17 15,988,828 (GRCm39) missense probably damaging 1.00
R0391:Chd1 UTSW 17 15,970,156 (GRCm39) missense probably damaging 1.00
R0486:Chd1 UTSW 17 15,954,604 (GRCm39) missense probably damaging 0.99
R0637:Chd1 UTSW 17 15,962,550 (GRCm39) missense possibly damaging 0.50
R0675:Chd1 UTSW 17 15,978,523 (GRCm39) unclassified probably benign
R0701:Chd1 UTSW 17 15,945,693 (GRCm39) missense probably benign
R0788:Chd1 UTSW 17 15,927,376 (GRCm39) missense possibly damaging 0.86
R0848:Chd1 UTSW 17 15,990,503 (GRCm39) missense probably damaging 1.00
R0883:Chd1 UTSW 17 15,945,693 (GRCm39) missense probably benign
R1169:Chd1 UTSW 17 15,955,994 (GRCm39) missense probably damaging 1.00
R1218:Chd1 UTSW 17 15,945,574 (GRCm39) missense probably damaging 1.00
R1370:Chd1 UTSW 17 17,607,742 (GRCm39) missense probably benign 0.00
R1470:Chd1 UTSW 17 15,946,545 (GRCm39) missense possibly damaging 0.72
R1470:Chd1 UTSW 17 15,946,545 (GRCm39) missense possibly damaging 0.72
R1478:Chd1 UTSW 17 15,959,769 (GRCm39) missense probably damaging 0.99
R1752:Chd1 UTSW 17 15,963,494 (GRCm39) critical splice donor site probably null
R1759:Chd1 UTSW 17 17,607,533 (GRCm39) missense probably benign 0.00
R1767:Chd1 UTSW 17 15,990,565 (GRCm39) missense probably damaging 1.00
R1938:Chd1 UTSW 17 15,982,748 (GRCm39) missense probably benign 0.39
R2007:Chd1 UTSW 17 15,951,268 (GRCm39) missense probably damaging 1.00
R2069:Chd1 UTSW 17 15,962,556 (GRCm39) missense probably damaging 1.00
R3771:Chd1 UTSW 17 17,594,913 (GRCm39) missense probably damaging 1.00
R3773:Chd1 UTSW 17 17,594,913 (GRCm39) missense probably damaging 1.00
R3849:Chd1 UTSW 17 15,952,133 (GRCm39) missense probably damaging 1.00
R4241:Chd1 UTSW 17 15,990,289 (GRCm39) nonsense probably null
R4242:Chd1 UTSW 17 15,990,289 (GRCm39) nonsense probably null
R4354:Chd1 UTSW 17 17,610,263 (GRCm39) missense probably benign 0.23
R4468:Chd1 UTSW 17 15,980,657 (GRCm39) missense probably damaging 0.99
R4469:Chd1 UTSW 17 15,980,657 (GRCm39) missense probably damaging 0.99
R4731:Chd1 UTSW 17 17,598,079 (GRCm39) missense probably benign 0.36
R4824:Chd1 UTSW 17 15,953,386 (GRCm39) missense probably damaging 1.00
R4840:Chd1 UTSW 17 15,989,016 (GRCm39) missense probably damaging 1.00
R4840:Chd1 UTSW 17 15,989,015 (GRCm39) nonsense probably null
R4880:Chd1 UTSW 17 17,594,916 (GRCm39) missense probably damaging 1.00
R4960:Chd1 UTSW 17 15,962,493 (GRCm39) missense probably damaging 0.96
R5071:Chd1 UTSW 17 15,982,667 (GRCm39) missense probably benign
R5078:Chd1 UTSW 17 15,946,616 (GRCm39) missense possibly damaging 0.93
R5114:Chd1 UTSW 17 15,948,460 (GRCm39) missense probably benign 0.25
R5268:Chd1 UTSW 17 15,956,005 (GRCm39) missense probably damaging 1.00
R5304:Chd1 UTSW 17 15,990,530 (GRCm39) missense possibly damaging 0.55
R5304:Chd1 UTSW 17 15,975,213 (GRCm39) missense probably benign 0.01
R5307:Chd1 UTSW 17 15,952,832 (GRCm39) missense probably damaging 1.00
R5458:Chd1 UTSW 17 15,958,811 (GRCm39) missense probably damaging 1.00
R5553:Chd1 UTSW 17 17,605,875 (GRCm39) missense probably benign 0.17
R5623:Chd1 UTSW 17 15,975,194 (GRCm39) missense probably damaging 1.00
R6022:Chd1 UTSW 17 17,598,035 (GRCm39) missense probably benign 0.39
R6137:Chd1 UTSW 17 15,978,950 (GRCm39) missense probably damaging 1.00
R6257:Chd1 UTSW 17 15,950,465 (GRCm39) splice site probably null
R6373:Chd1 UTSW 17 15,958,898 (GRCm39) missense probably damaging 1.00
R6458:Chd1 UTSW 17 15,950,864 (GRCm39) missense probably benign 0.01
R6476:Chd1 UTSW 17 17,601,250 (GRCm39) critical splice donor site probably null
R6508:Chd1 UTSW 17 15,958,895 (GRCm39) missense probably benign 0.31
R6553:Chd1 UTSW 17 15,945,692 (GRCm39) missense probably benign 0.00
R6745:Chd1 UTSW 17 17,607,429 (GRCm39) missense probably benign 0.08
R7107:Chd1 UTSW 17 15,981,628 (GRCm39) missense probably damaging 0.98
R7230:Chd1 UTSW 17 15,927,199 (GRCm39) splice site probably null
R7317:Chd1 UTSW 17 15,962,536 (GRCm39) missense possibly damaging 0.71
R7341:Chd1 UTSW 17 15,990,499 (GRCm39) missense probably damaging 0.99
R7421:Chd1 UTSW 17 15,969,660 (GRCm39) missense probably benign 0.03
R7704:Chd1 UTSW 17 15,987,737 (GRCm39) missense probably benign
R7763:Chd1 UTSW 17 15,953,303 (GRCm39) missense probably damaging 1.00
R8156:Chd1 UTSW 17 15,981,666 (GRCm39) missense probably benign
R8194:Chd1 UTSW 17 17,594,737 (GRCm39) start gained probably benign
R8261:Chd1 UTSW 17 17,607,804 (GRCm39) missense probably benign 0.02
R8338:Chd1 UTSW 17 15,990,242 (GRCm39) missense probably damaging 1.00
R8401:Chd1 UTSW 17 15,963,473 (GRCm39) missense probably damaging 1.00
R8411:Chd1 UTSW 17 15,982,711 (GRCm39) missense probably damaging 0.98
R9067:Chd1 UTSW 17 15,951,107 (GRCm39) missense possibly damaging 0.49
R9184:Chd1 UTSW 17 15,962,551 (GRCm39) missense possibly damaging 0.71
R9210:Chd1 UTSW 17 15,950,767 (GRCm39) missense possibly damaging 0.70
R9212:Chd1 UTSW 17 15,950,767 (GRCm39) missense possibly damaging 0.70
R9666:Chd1 UTSW 17 15,955,976 (GRCm39) missense probably damaging 1.00
R9673:Chd1 UTSW 17 15,989,023 (GRCm39) missense probably benign 0.24
Z1176:Chd1 UTSW 17 15,988,995 (GRCm39) missense probably damaging 1.00
Z1176:Chd1 UTSW 17 15,986,609 (GRCm39) missense probably damaging 0.98
Z1177:Chd1 UTSW 17 15,968,063 (GRCm39) 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