Incidental Mutation 'R0285:Chd1'
ID 24701
Institutional Source Beutler Lab
Gene Symbol Chd1
Ensembl Gene ENSMUSG00000023852
Gene Name chromodomain helicase DNA binding protein 1
Synonyms 4930525N21Rik
MMRRC Submission 038506-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0285 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 15704967-15772610 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 17374680 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024620] [ENSMUST00000232199] [ENSMUST00000232396]
AlphaFold P40201
Predicted Effect probably benign
Transcript: ENSMUST00000024620
SMART Domains Protein: ENSMUSP00000024620
Gene: ENSMUSG00000116564

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 probably benign
Transcript: ENSMUST00000232199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232288
Predicted Effect probably benign
Transcript: ENSMUST00000232396
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.1%
  • 20x: 92.9%
Validation Efficiency 99% (80/81)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy3 A G 19: 3,988,193 (GRCm38) E162G probably benign Het
Angptl1 T C 1: 156,845,215 (GRCm38) S204P probably benign Het
Atf6b C T 17: 34,650,396 (GRCm38) probably benign Het
Card11 G A 5: 140,887,101 (GRCm38) S619F probably damaging Het
Ccdc192 G A 18: 57,533,865 (GRCm38) G5S probably damaging Het
Ccl11 G A 11: 82,062,258 (GRCm38) V81I probably damaging Het
Cds1 T C 5: 101,797,038 (GRCm38) I126T probably damaging Het
Cndp1 C A 18: 84,618,238 (GRCm38) V384F possibly damaging Het
Cuta A G 17: 26,939,449 (GRCm38) probably null Het
Diaph3 G A 14: 87,115,024 (GRCm38) T47I possibly damaging Het
Dop1a A T 9: 86,512,639 (GRCm38) S598C probably damaging Het
Dsp A G 13: 38,172,794 (GRCm38) M217V probably benign Het
Entrep1 G A 19: 23,979,385 (GRCm38) probably benign Het
Esyt1 T A 10: 128,512,218 (GRCm38) I898F possibly damaging Het
Fcsk G C 8: 110,893,717 (GRCm38) H235Q probably benign Het
Fgd3 A T 13: 49,263,948 (GRCm38) W680R possibly damaging Het
Folh1 A G 7: 86,742,165 (GRCm38) probably benign Het
Gadl1 C A 9: 116,030,738 (GRCm38) probably benign Het
Garem1 A G 18: 21,129,612 (GRCm38) M715T probably benign Het
Gpd2 A T 2: 57,338,955 (GRCm38) D257V probably benign Het
Hdac7 A G 15: 97,798,222 (GRCm38) probably null Het
Heatr5b A G 17: 78,808,453 (GRCm38) M858T probably benign Het
Inpp4b A T 8: 82,034,516 (GRCm38) probably benign Het
Iqgap3 G T 3: 88,096,990 (GRCm38) C461F probably benign Het
Lamb1 C A 12: 31,326,645 (GRCm38) C559* probably null Het
Lratd2 T C 15: 60,822,967 (GRCm38) H310R probably benign Het
Lrrc31 T C 3: 30,684,948 (GRCm38) N308S probably benign Het
Ly75 T C 2: 60,318,319 (GRCm38) Y1222C probably damaging Het
Map3k10 C A 7: 27,673,900 (GRCm38) R42L probably benign Het
Meioc A G 11: 102,672,191 (GRCm38) T72A probably benign Het
Miox C T 15: 89,336,274 (GRCm38) L189F possibly damaging Het
Mmp11 T C 10: 75,925,668 (GRCm38) Y366C probably damaging Het
N4bp2 T A 5: 65,806,559 (GRCm38) D650E probably benign Het
Ncoa6 T C 2: 155,415,701 (GRCm38) M641V probably damaging Het
Ncoa6 TGC TGCGC 2: 155,408,291 (GRCm38) probably null Het
Nol4l G A 2: 153,483,853 (GRCm38) probably benign Het
Notch1 T G 2: 26,460,861 (GRCm38) D2089A possibly damaging Het
Or10q3 A G 19: 11,871,138 (GRCm38) L26P probably damaging Het
Or13c7 G A 4: 43,854,398 (GRCm38) V30M possibly damaging Het
Or52h2 A T 7: 104,189,324 (GRCm38) Y294* probably null Het
Or5b24 A T 19: 12,935,172 (GRCm38) M145L probably benign Het
Or5l13 A G 2: 87,950,131 (GRCm38) I34T probably damaging Het
Or5p68 A G 7: 108,346,499 (GRCm38) S161P probably benign Het
Or8d23 T A 9: 38,930,774 (GRCm38) I201N possibly damaging Het
Otof C T 5: 30,379,533 (GRCm38) probably null Het
Paox T C 7: 140,129,140 (GRCm38) F324L probably damaging Het
Pycr1 A T 11: 120,640,316 (GRCm38) I277N probably benign Het
R3hcc1l A T 19: 42,576,129 (GRCm38) H627L probably damaging Het
Rab21 G A 10: 115,290,863 (GRCm38) S193L probably benign Het
Ralgds T G 2: 28,550,569 (GRCm38) probably null Het
Rbm42 A G 7: 30,645,840 (GRCm38) S169P possibly damaging Het
Rfpl4 A G 7: 5,110,378 (GRCm38) V262A probably benign Het
Rhobtb3 A G 13: 75,877,509 (GRCm38) I496T possibly damaging Het
Rnf31 G A 14: 55,601,389 (GRCm38) A901T probably damaging Het
Ryr2 T C 13: 11,716,977 (GRCm38) D2359G probably damaging Het
Sgo2b A C 8: 63,928,789 (GRCm38) Y336* probably null Het
Slc16a7 T A 10: 125,294,631 (GRCm38) I62L probably benign Het
Slc22a21 A T 11: 53,959,196 (GRCm38) probably benign Het
Slc25a21 A G 12: 56,858,025 (GRCm38) probably null Het
Slc5a4b T C 10: 76,062,283 (GRCm38) I532M probably damaging Het
Spata31f1a G A 4: 42,850,236 (GRCm38) T640M probably benign Het
Srrm4 C A 5: 116,467,789 (GRCm38) probably benign Het
Stxbp1 C A 2: 32,823,542 (GRCm38) E27D probably benign Het
Sult2a5 T A 7: 13,628,760 (GRCm38) Y131N probably damaging Het
Svopl T C 6: 37,984,522 (GRCm38) Q492R probably benign Het
Tmem144 G A 3: 79,839,273 (GRCm38) probably benign Het
Tmem87a A G 2: 120,394,424 (GRCm38) S119P probably benign Het
Tmprss11c A G 5: 86,271,430 (GRCm38) L90P probably damaging Het
Tmprss6 T A 15: 78,452,868 (GRCm38) D346V probably damaging Het
Ubr4 A C 4: 139,440,801 (GRCm38) S2820R probably damaging Het
Usp4 T C 9: 108,378,564 (GRCm38) V607A probably benign Het
Usp45 A G 4: 21,798,603 (GRCm38) probably null Het
Vill C T 9: 119,070,827 (GRCm38) probably benign Het
Vmn1r13 C A 6: 57,209,994 (GRCm38) T46N probably benign Het
Vmn2r107 A G 17: 20,345,611 (GRCm38) T63A probably benign Het
Vmn2r82 T A 10: 79,396,557 (GRCm38) W797R probably damaging Het
Washc2 T A 6: 116,221,839 (GRCm38) D287E probably damaging Het
Xpc G A 6: 91,498,064 (GRCm38) L660F probably 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
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'- TGCAACTTGCCAAATCAGTCAAACG -3'
(R):5'- CCTCCCCTAGTTTGGAAGCCAAAG -3'

Sequencing Primer
(F):5'- GGCTGAAAAATCACTTCTGCCTG -3'
(R):5'- CCTAGTTTGGAAGCCAAAGATCAATG -3'
Posted On 2013-04-16