Incidental Mutation 'R5071:Chd1'
ID 388821
Institutional Source Beutler Lab
Gene Symbol Chd1
Ensembl Gene ENSMUSG00000023852
Gene Name chromodomain helicase DNA binding protein 1
Synonyms 4930525N21Rik
MMRRC Submission 042661-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5071 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 15925229-15992872 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15982667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1377 (S1377R)
Ref Sequence ENSEMBL: ENSMUSP00000024627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024627]
AlphaFold P40201
Predicted Effect probably benign
Transcript: ENSMUST00000024627
AA Change: S1377R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024627
Gene: ENSMUSG00000023852
AA Change: S1377R

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 probably benign
Transcript: ENSMUST00000173040
SMART Domains Protein: ENSMUSP00000133406
Gene: ENSMUSG00000023852

DomainStartEndE-ValueType
Blast:DEXDc 2 102 5e-58 BLAST
PDB:4B4C|A 2 153 1e-108 PDB
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A T 15: 64,659,207 (GRCm39) W528R probably damaging Het
Agbl1 A G 7: 76,071,665 (GRCm39) E329G probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI182371 A T 2: 34,975,227 (GRCm39) I334N probably benign Het
Aldh1b1 A G 4: 45,803,383 (GRCm39) probably null Het
Armc9 G A 1: 86,113,838 (GRCm39) M298I probably benign Het
Atp8a1 T A 5: 67,973,066 (GRCm39) K27N probably benign Het
BC004004 G A 17: 29,513,389 (GRCm39) probably null Het
Ccdc83 A T 7: 89,899,737 (GRCm39) F45Y probably damaging Het
Cct8l1 G A 5: 25,721,881 (GRCm39) V199I probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh17 G T 4: 11,810,325 (GRCm39) G672V probably damaging Het
Cdh5 C A 8: 104,867,334 (GRCm39) T537K probably damaging Het
Chd2 T C 7: 73,079,437 (GRCm39) N1821S probably benign Het
Cnot3 A G 7: 3,653,860 (GRCm39) K4R probably damaging Het
Colq T A 14: 31,250,789 (GRCm39) I339F possibly damaging Het
Coq2 A T 5: 100,815,816 (GRCm39) L121Q probably damaging Het
Csnk1e G A 15: 79,305,072 (GRCm39) R342* probably null Het
Cstl1 A T 2: 148,592,847 (GRCm39) M1L probably benign Het
Cwh43 A G 5: 73,581,256 (GRCm39) probably null Het
Cyp2a22 A T 7: 26,631,906 (GRCm39) F450Y probably benign Het
Cyp2d10 C T 15: 82,287,954 (GRCm39) R383H probably benign Het
Cyp4a29 A G 4: 115,104,860 (GRCm39) T123A probably benign Het
Dgkh T C 14: 78,841,972 (GRCm39) K417E probably damaging Het
Dnah11 A T 12: 118,046,188 (GRCm39) L1750* probably null Het
Edn1 A G 13: 42,457,153 (GRCm39) E62G probably damaging Het
Eef1akmt1 A G 14: 57,803,464 (GRCm39) L30P probably damaging Het
Fbxo42 T C 4: 140,926,256 (GRCm39) W313R probably damaging Het
Fign A T 2: 63,810,037 (GRCm39) L411* probably null Het
Fitm1 T A 14: 55,813,230 (GRCm39) V31E possibly damaging Het
Fryl G A 5: 73,232,110 (GRCm39) P1550L probably damaging Het
Gabrd A C 4: 155,471,619 (GRCm39) F228C probably damaging Het
Gm5916 A C 9: 36,039,964 (GRCm39) L8R probably benign Het
Gpr108 A G 17: 57,542,335 (GRCm39) S557P probably damaging Het
Gpr75 C A 11: 30,842,380 (GRCm39) N428K probably damaging Het
H2-M5 T G 17: 37,298,076 (GRCm39) probably null Het
Hdac6 A G X: 7,811,036 (GRCm39) F104L probably damaging Homo
Homer3 T C 8: 70,744,005 (GRCm39) V243A probably benign Het
Hspg2 T C 4: 137,267,541 (GRCm39) S2050P probably damaging Het
Hydin A G 8: 111,265,105 (GRCm39) N2763D probably benign Het
Ifi203 T C 1: 173,762,676 (GRCm39) Q152R possibly damaging Het
Ifi44 T C 3: 151,455,269 (GRCm39) probably benign Het
Ifi47 A G 11: 48,986,361 (GRCm39) T43A probably benign Het
Ighv1-24 A G 12: 114,736,748 (GRCm39) Y51H probably benign Het
Inf2 A T 12: 112,578,473 (GRCm39) probably null Het
Insl6 T C 19: 29,302,655 (GRCm39) R21G probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Ltbp3 T C 19: 5,806,851 (GRCm39) C1043R probably damaging Het
Mpeg1 T A 19: 12,438,545 (GRCm39) M1K probably null Het
Mrtfa A G 15: 80,906,627 (GRCm39) V91A probably damaging Het
Muc21 G A 17: 35,931,444 (GRCm39) probably benign Het
Ncald A T 15: 37,397,478 (GRCm39) H67Q probably damaging Het
Nek9 C A 12: 85,374,233 (GRCm39) R268L possibly damaging Het
Nudt5 T A 2: 5,869,198 (GRCm39) H141Q probably benign Het
Numbl G A 7: 26,980,415 (GRCm39) D466N probably damaging Het
Or14c46 A G 7: 85,918,799 (GRCm39) I66T probably damaging Het
Or2l5 A G 16: 19,333,777 (GRCm39) I203T probably benign Het
Or4c100 T C 2: 88,356,385 (GRCm39) S153P probably damaging Het
Or51l14 A T 7: 103,100,617 (GRCm39) E24D probably benign Het
Or52n2c A C 7: 104,574,700 (GRCm39) N90K probably benign Het
Or6x1 T C 9: 40,098,960 (GRCm39) L183S probably damaging Het
Or8h10 A T 2: 86,808,666 (GRCm39) V158D possibly damaging Het
Pik3c2g T A 6: 139,665,873 (GRCm39) C65S probably null Het
Plagl1 A G 10: 13,003,005 (GRCm39) Y91C probably damaging Het
Polr1a A G 6: 71,908,693 (GRCm39) N506S possibly damaging Het
Pomt2 A C 12: 87,180,234 (GRCm39) C256G probably damaging Het
Psg29 T A 7: 16,945,763 (GRCm39) D444E probably damaging Het
Ptgs1 A T 2: 36,141,272 (GRCm39) N573I probably damaging Het
Ptprf C A 4: 118,069,196 (GRCm39) G1624W probably damaging Het
Rbm38 C T 2: 172,863,875 (GRCm39) P15S probably benign Het
Rc3h1 A G 1: 160,787,047 (GRCm39) D814G possibly damaging Het
Rnf40 T C 7: 127,196,458 (GRCm39) L802P probably damaging Het
Rusc2 A G 4: 43,415,240 (GRCm39) D182G probably benign Het
Setd1b A G 5: 123,298,977 (GRCm39) probably benign Het
Slc4a2 G A 5: 24,643,760 (GRCm39) S855N probably benign Het
Slc8a2 T C 7: 15,884,508 (GRCm39) L626P possibly damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Smarcc2 A G 10: 128,299,809 (GRCm39) D158G probably damaging Het
Sptbn1 A G 11: 30,063,854 (GRCm39) probably null Het
St3gal5 T C 6: 72,109,037 (GRCm39) C42R probably damaging Het
Syt7 T C 19: 10,420,792 (GRCm39) S397P possibly damaging Het
Tenm2 T A 11: 35,959,208 (GRCm39) T1114S probably damaging Het
Thada T A 17: 84,693,960 (GRCm39) D1263V probably damaging Het
Tmco3 G T 8: 13,342,860 (GRCm39) E199* probably null Het
Tpcn1 A T 5: 120,686,334 (GRCm39) probably null Het
Tppp2 G A 14: 52,157,912 (GRCm39) R119Q probably benign Het
Trim30d A C 7: 104,137,165 (GRCm39) V13G probably damaging Het
Ubxn2b A T 4: 6,214,746 (GRCm39) Q260L probably damaging Het
Ufl1 A G 4: 25,254,780 (GRCm39) Y559H probably benign Het
Usp5 A G 6: 124,803,342 (GRCm39) F7L probably benign Het
Utrn A T 10: 12,259,948 (GRCm39) probably null Het
Vmn1r28 A T 6: 58,242,894 (GRCm39) I246F probably benign Het
Vmn2r2 C A 3: 64,024,321 (GRCm39) M753I probably benign Het
Zbtb26 T C 2: 37,325,941 (GRCm39) H365R probably benign Het
Zfp976 A T 7: 42,262,354 (GRCm39) Y494* 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
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
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'- TCATGTTTGAGGGTCAAGAGAG -3'
(R):5'- ACCTTTGCACATCAGCACTC -3'

Sequencing Primer
(F):5'- CATGTTTGAGGGTCAAGAGAGATCTC -3'
(R):5'- ACTCTAAATACTGGATAGGGAACTG -3'
Posted On 2016-06-06