Incidental Mutation 'R8338:Chd1'
ID 644769
Institutional Source Beutler Lab
Gene Symbol Chd1
Ensembl Gene ENSMUSG00000023852
Gene Name chromodomain helicase DNA binding protein 1
Synonyms 4930525N21Rik
MMRRC Submission 067730-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8338 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 15925229-15992872 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15990242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1598 (Y1598C)
Ref Sequence ENSEMBL: ENSMUSP00000024627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024627]
AlphaFold P40201
Predicted Effect probably damaging
Transcript: ENSMUST00000024627
AA Change: Y1598C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024627
Gene: ENSMUSG00000023852
AA Change: Y1598C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache T C 5: 137,290,006 (GRCm39) L445P probably damaging Het
Agrn G A 4: 156,253,018 (GRCm39) T1773I probably benign Het
Arap3 A G 18: 38,106,683 (GRCm39) S1387P probably damaging Het
Bcl11a G C 11: 24,114,578 (GRCm39) K640N probably damaging Het
Bicd1 G A 6: 149,414,621 (GRCm39) V445I probably benign Het
Bltp3a A G 17: 28,095,669 (GRCm39) N26S probably damaging Het
C2cd6 A C 1: 59,099,734 (GRCm39) N402K probably benign Het
Celsr3 C T 9: 108,704,539 (GRCm39) Q341* probably null Het
Cers1 A G 8: 70,783,772 (GRCm39) E240G possibly damaging Het
Cfap157 G T 2: 32,668,018 (GRCm39) T441N possibly damaging Het
Cfap44 G A 16: 44,239,698 (GRCm39) probably null Het
Ckap2l T G 2: 129,126,939 (GRCm39) Q413P probably damaging Het
Cobl T C 11: 12,203,696 (GRCm39) E1002G probably benign Het
Cryge G A 1: 65,087,933 (GRCm39) T156M unknown Het
Cubn A C 2: 13,435,658 (GRCm39) F1099L probably benign Het
Cyp7b1 T C 3: 18,151,730 (GRCm39) E161G probably benign Het
Dnah10 A G 5: 124,909,566 (GRCm39) E4452G probably damaging Het
Dnah2 C T 11: 69,378,122 (GRCm39) R1273Q probably damaging Het
Dnah3 T C 7: 119,671,104 (GRCm39) E593G probably benign Het
Dnah9 C A 11: 65,732,067 (GRCm39) probably null Het
Dnajc22 C A 15: 98,999,022 (GRCm39) P69Q probably benign Het
Fam171a2 T A 11: 102,329,172 (GRCm39) D529V probably benign Het
Fbxl17 T C 17: 63,663,753 (GRCm39) I579V possibly damaging Het
Fry C T 5: 150,282,516 (GRCm39) T347M probably damaging Het
Gm13272 A C 4: 88,698,364 (GRCm39) D93A probably benign Het
Grm4 A T 17: 27,653,977 (GRCm39) F658I probably damaging Het
Hmcn1 G A 1: 150,614,485 (GRCm39) T1307I probably benign Het
Igkv12-98 G A 6: 68,548,159 (GRCm39) S96N probably benign Het
Il2ra A T 2: 11,687,885 (GRCm39) T222S probably benign Het
Il5ra G T 6: 106,689,350 (GRCm39) T414K probably benign Het
Isg15 T A 4: 156,284,088 (GRCm39) I147F probably benign Het
Kif14 C A 1: 136,422,416 (GRCm39) A902E probably damaging Het
Lcat G A 8: 106,666,719 (GRCm39) R268C probably damaging Het
Lipa T C 19: 34,471,477 (GRCm39) N366S probably benign Het
Lrp4 A G 2: 91,322,713 (GRCm39) T1101A probably benign Het
Man1a T A 10: 53,801,643 (GRCm39) probably null Het
Mib1 A G 18: 10,726,372 (GRCm39) D23G probably benign Het
Morc2b A T 17: 33,355,387 (GRCm39) M795K probably benign Het
Msantd5f1 T A 4: 73,605,435 (GRCm39) M282K possibly damaging Het
Mycbp2 T A 14: 103,372,701 (GRCm39) E4048D probably damaging Het
Myo7b A G 18: 32,104,408 (GRCm39) S1447P probably damaging Het
Myt1 A T 2: 181,443,655 (GRCm39) T536S possibly damaging Het
Nod1 A T 6: 54,920,956 (GRCm39) L454Q probably damaging Het
Nrf1 T A 6: 30,140,247 (GRCm39) W199R Het
Or10w1 T A 19: 13,632,216 (GRCm39) M141K possibly damaging Het
Or13a27 T A 7: 139,925,306 (GRCm39) M199L probably benign Het
Or14c44 T C 7: 86,061,702 (GRCm39) I44T probably benign Het
Or8k27 A T 2: 86,275,729 (GRCm39) M199K probably benign Het
Or9a4 T C 6: 40,548,910 (GRCm39) F197L probably benign Het
Ostn G T 16: 27,143,285 (GRCm39) A38S probably benign Het
Paxbp1 A T 16: 90,833,435 (GRCm39) D266E probably damaging Het
Pcdhb14 G T 18: 37,582,175 (GRCm39) G427V probably damaging Het
Pdzrn3 A T 6: 101,127,783 (GRCm39) M961K probably benign Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Prdx5 T C 19: 6,884,632 (GRCm39) D148G probably damaging Het
Ptprj A T 2: 90,301,481 (GRCm39) I217N possibly damaging Het
Rccd1 A T 7: 79,970,618 (GRCm39) L54Q possibly damaging Het
Rfx6 T A 10: 51,594,190 (GRCm39) V370E probably damaging Het
Sdr16c6 C T 4: 4,076,620 (GRCm39) C93Y probably damaging Het
Shroom1 A G 11: 53,354,107 (GRCm39) D9G probably benign Het
Snrpe A G 1: 133,536,681 (GRCm39) V33A probably benign Het
Spats2 T A 15: 99,076,340 (GRCm39) D139E probably damaging Het
Spopfm1 A G 3: 94,173,285 (GRCm39) I94V possibly damaging Het
St18 A G 1: 6,879,516 (GRCm39) E405G probably damaging Het
Strap A T 6: 137,718,976 (GRCm39) E176V possibly damaging Het
Stxbp5l G T 16: 36,994,718 (GRCm39) T729K probably damaging Het
Synj2bp G A 12: 81,551,326 (GRCm39) Q97* probably null Het
Tbc1d32 T A 10: 55,904,173 (GRCm39) Q1198L possibly damaging Het
Tmem98 T C 11: 80,712,135 (GRCm39) S191P probably benign Het
Tnn C T 1: 159,946,053 (GRCm39) G922R probably damaging Het
Treh A G 9: 44,595,808 (GRCm39) N366S probably benign Het
Ttn T G 2: 76,750,136 (GRCm39) S3638R probably benign Het
Uggt1 A G 1: 36,266,602 (GRCm39) L124P probably damaging Het
V1rd19 A T 7: 23,702,674 (GRCm39) K47* probably null Het
Wdhd1 T C 14: 47,506,120 (GRCm39) M265V probably benign Het
Wsb1 T C 11: 79,137,103 (GRCm39) D168G probably damaging 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
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
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'- ATTTCAGCAGCTGTGTGAGG -3'
(R):5'- TCCAACTGCCAATCTGAGAG -3'

Sequencing Primer
(F):5'- AGGTGGCTCTGTGTTGCAC -3'
(R):5'- TCTGAGAGATACCGATAATCCCTGG -3'
Posted On 2020-09-02