Incidental Mutation 'R2007:Chd1'
ID 222563
Institutional Source Beutler Lab
Gene Symbol Chd1
Ensembl Gene ENSMUSG00000023852
Gene Name chromodomain helicase DNA binding protein 1
Synonyms 4930525N21Rik
MMRRC Submission 040016-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2007 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 15925229-15992872 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 15951268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 281 (G281V)
Ref Sequence ENSEMBL: ENSMUSP00000134091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024627] [ENSMUST00000173311]
AlphaFold P40201
Predicted Effect probably damaging
Transcript: ENSMUST00000024627
AA Change: G281V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024627
Gene: ENSMUSG00000023852
AA Change: G281V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173159
Predicted Effect probably damaging
Transcript: ENSMUST00000173311
AA Change: G281V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134091
Gene: ENSMUSG00000023852
AA Change: G281V

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 1078 2e-38 BLAST
Meta Mutation Damage Score 0.7193 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 96% (66/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,519,855 (GRCm39) N1387K probably benign Het
Abca13 T C 11: 9,141,987 (GRCm39) F8L probably benign Het
Abcg5 G T 17: 84,977,348 (GRCm39) L270M probably damaging Het
Acad10 A G 5: 121,772,814 (GRCm39) L489S probably damaging Het
Acsf2 G A 11: 94,462,466 (GRCm39) T183I possibly damaging Het
Adamts7 A T 9: 90,059,909 (GRCm39) E282V probably damaging Het
Adcy4 C T 14: 56,015,770 (GRCm39) G440R possibly damaging Het
AI429214 G A 8: 37,460,923 (GRCm39) V24I probably benign Het
Angptl3 T C 4: 98,925,634 (GRCm39) I320T probably damaging Het
Apoa5 A T 9: 46,181,665 (GRCm39) Q247L possibly damaging Het
Astn1 T G 1: 158,436,875 (GRCm39) V811G probably damaging Het
Bard1 C T 1: 71,070,562 (GRCm39) V641I probably benign Het
Calb2 T C 8: 110,894,702 (GRCm39) E23G probably benign Het
Cdkl4 A G 17: 80,863,730 (GRCm39) probably benign Het
Cep85l A G 10: 53,154,171 (GRCm39) probably benign Het
Cfap91 T C 16: 38,118,616 (GRCm39) I728V probably benign Het
Col17a1 C T 19: 47,656,141 (GRCm39) G586E probably damaging Het
Cpne3 T A 4: 19,553,833 (GRCm39) D66V probably damaging Het
Csde1 A T 3: 102,952,107 (GRCm39) I204L probably damaging Het
Dchs1 A T 7: 105,404,532 (GRCm39) V2670E probably damaging Het
Ddx10 A G 9: 53,124,578 (GRCm39) V428A probably benign Het
Dgkh T A 14: 78,840,489 (GRCm39) D530V probably benign Het
Dis3l A T 9: 64,215,558 (GRCm39) probably null Het
Dst T G 1: 34,265,093 (GRCm39) probably benign Het
Eml6 C T 11: 29,798,814 (GRCm39) probably null Het
En1 A T 1: 120,531,133 (GRCm39) E124D probably benign Het
Exo1 G A 1: 175,736,096 (GRCm39) E827K probably damaging Het
Fktn T C 4: 53,735,099 (GRCm39) F246L possibly damaging Het
Fndc1 G A 17: 7,997,580 (GRCm39) probably benign Het
Foxp2 G A 6: 15,396,818 (GRCm39) C381Y probably damaging Het
Galnt6 A T 15: 100,595,047 (GRCm39) Y485N probably damaging Het
Gemin4 G A 11: 76,103,444 (GRCm39) A439V possibly damaging Het
Gpatch8 A G 11: 102,391,657 (GRCm39) I155T unknown Het
Hmcn2 A G 2: 31,328,267 (GRCm39) D4316G possibly damaging Het
Hnrnpr T A 4: 136,046,824 (GRCm39) probably benign Het
Hpx G A 7: 105,244,781 (GRCm39) R135C probably damaging Het
Khdrbs2 T G 1: 32,559,629 (GRCm39) E151A probably benign Het
Krt6b A T 15: 101,586,562 (GRCm39) L309H probably damaging Het
Lce1c G T 3: 92,587,765 (GRCm39) C64F unknown Het
Marchf6 C T 15: 31,462,087 (GRCm39) probably null Het
Myt1 C A 2: 181,437,552 (GRCm39) R88S probably benign Het
Nemp1 A G 10: 127,529,446 (GRCm39) S194G probably benign Het
Nphp4 A G 4: 152,639,111 (GRCm39) K914R probably damaging Het
Or3a1 T A 11: 74,225,212 (GRCm39) T282S possibly damaging Het
Osbp T C 19: 11,951,265 (GRCm39) M270T probably benign Het
Parg T C 14: 31,932,531 (GRCm39) M457T possibly damaging Het
Phf20 T C 2: 156,129,874 (GRCm39) M482T probably benign Het
Pik3c2a G A 7: 115,941,472 (GRCm39) T1598I probably damaging Het
Pkd1 T C 17: 24,798,759 (GRCm39) M2689T probably damaging Het
Plxnd1 A T 6: 115,944,216 (GRCm39) V1091E probably damaging Het
Ptcd2 A T 13: 99,456,744 (GRCm39) L360Q probably damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Serpinc1 A T 1: 160,821,110 (GRCm39) T65S probably benign Het
Sipa1l2 G A 8: 126,166,176 (GRCm39) T1486I probably damaging Het
Snrnp200 T C 2: 127,068,968 (GRCm39) L949P probably damaging Het
Ssc5d T G 7: 4,931,628 (GRCm39) C278W probably damaging Het
Tbc1d14 T G 5: 36,728,718 (GRCm39) H216P possibly damaging Het
Tmem183a A G 1: 134,277,861 (GRCm39) F301S probably damaging Het
Tmem233 A C 5: 116,189,496 (GRCm39) N94K possibly damaging Het
Tmprss13 A G 9: 45,243,843 (GRCm39) D193G probably damaging Het
Tprkb T C 6: 85,910,030 (GRCm39) probably benign Het
Tram1l1 A G 3: 124,115,488 (GRCm39) H216R possibly damaging Het
Ttn A G 2: 76,564,484 (GRCm39) V28551A probably damaging Het
Ubtfl1 A G 9: 18,320,547 (GRCm39) N25S possibly damaging Het
Unc80 C A 1: 66,542,935 (GRCm39) N396K probably damaging Het
Vmn1r171 T C 7: 23,332,012 (GRCm39) L79P probably damaging Het
Vmn2r115 G T 17: 23,566,927 (GRCm39) V480F possibly damaging Het
Xpo4 T C 14: 57,824,101 (GRCm39) I995V 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
R0372:Chd1 UTSW 17 17,607,552 (GRCm39) missense probably benign 0.14
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
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'- AAGAGACAGATTGATTCATCTGAGG -3'
(R):5'- AGGACATTTCAGAGATGGGC -3'

Sequencing Primer
(F):5'- GAAAACCGACTCCGATGA -3'
(R):5'- TGGGCGGGCATGCAATG -3'
Posted On 2014-08-25