Incidental Mutation 'R7471:Chd8'
ID 579218
Institutional Source Beutler Lab
Gene Symbol Chd8
Ensembl Gene ENSMUSG00000053754
Gene Name chromodomain helicase DNA binding protein 8
Synonyms 5830451P18Rik, Duplin
MMRRC Submission 045545-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7471 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 52435608-52495237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52441569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 2181 (N2181S)
Ref Sequence ENSEMBL: ENSMUSP00000087184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089752] [ENSMUST00000149975] [ENSMUST00000200169] [ENSMUST00000227897]
AlphaFold Q09XV5
Predicted Effect probably benign
Transcript: ENSMUST00000089752
AA Change: N2181S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087184
Gene: ENSMUSG00000053754
AA Change: N2181S

DomainStartEndE-ValueType
low complexity region 255 272 N/A INTRINSIC
low complexity region 340 374 N/A INTRINSIC
low complexity region 404 437 N/A INTRINSIC
low complexity region 463 477 N/A INTRINSIC
low complexity region 497 534 N/A INTRINSIC
low complexity region 588 607 N/A INTRINSIC
CHROMO 642 708 1.8e-9 SMART
CHROMO 724 782 1.55e-4 SMART
DEXDc 809 1011 4.13e-37 SMART
HELICc 1165 1249 1.01e-22 SMART
low complexity region 1335 1345 N/A INTRINSIC
low complexity region 1422 1441 N/A INTRINSIC
Blast:DEXDc 1460 1505 4e-16 BLAST
low complexity region 1579 1590 N/A INTRINSIC
low complexity region 1703 1714 N/A INTRINSIC
low complexity region 1770 1785 N/A INTRINSIC
low complexity region 1887 1903 N/A INTRINSIC
low complexity region 2063 2107 N/A INTRINSIC
low complexity region 2222 2239 N/A INTRINSIC
BRK 2312 2356 1.34e-19 SMART
BRK 2381 2421 1.94e-2 SMART
low complexity region 2452 2472 N/A INTRINSIC
low complexity region 2494 2510 N/A INTRINSIC
low complexity region 2514 2529 N/A INTRINSIC
low complexity region 2538 2550 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000122995
Gene: ENSMUSG00000053754
AA Change: N841S

DomainStartEndE-ValueType
low complexity region 74 93 N/A INTRINSIC
Blast:DEXDc 112 235 9e-40 BLAST
low complexity region 239 250 N/A INTRINSIC
low complexity region 363 374 N/A INTRINSIC
low complexity region 430 445 N/A INTRINSIC
Blast:SANT 456 515 1e-29 BLAST
low complexity region 547 563 N/A INTRINSIC
low complexity region 723 767 N/A INTRINSIC
low complexity region 882 899 N/A INTRINSIC
BRK 972 1016 1.34e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200169
AA Change: N2181S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142890
Gene: ENSMUSG00000053754
AA Change: N2181S

DomainStartEndE-ValueType
low complexity region 255 272 N/A INTRINSIC
low complexity region 340 374 N/A INTRINSIC
low complexity region 404 437 N/A INTRINSIC
low complexity region 463 477 N/A INTRINSIC
low complexity region 497 534 N/A INTRINSIC
low complexity region 588 607 N/A INTRINSIC
CHROMO 642 708 1.8e-9 SMART
CHROMO 724 782 1.55e-4 SMART
DEXDc 809 1011 4.13e-37 SMART
HELICc 1165 1249 1.01e-22 SMART
low complexity region 1335 1345 N/A INTRINSIC
low complexity region 1422 1441 N/A INTRINSIC
Blast:DEXDc 1460 1505 4e-16 BLAST
low complexity region 1579 1590 N/A INTRINSIC
low complexity region 1703 1714 N/A INTRINSIC
low complexity region 1770 1785 N/A INTRINSIC
low complexity region 1887 1903 N/A INTRINSIC
low complexity region 2063 2107 N/A INTRINSIC
low complexity region 2222 2239 N/A INTRINSIC
BRK 2312 2356 1.34e-19 SMART
BRK 2381 2421 1.94e-2 SMART
low complexity region 2452 2472 N/A INTRINSIC
low complexity region 2494 2510 N/A INTRINSIC
low complexity region 2514 2529 N/A INTRINSIC
low complexity region 2538 2550 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227897
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (73/73)
MGI Phenotype FUNCTION: This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which is common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. In mammals, this gene has been shown to function in several processes including transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Knockout of this gene causes early embryonic lethality due to widespread apoptosis. Heterozygous loss of function mutations result in autism spectrum disorder-like behaviors that include increased anxiety, repetitive behavior, and altered social behavior. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous null embryos are growth retarded starting at E5.5 and exhibit developmental arrest at E6.5. Mutants develop into an egg cylinder but do not form a primitive streak or mesoderm and exhibit increased apoptosis at E7.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,168,608 (GRCm39) probably null Het
Ace T C 11: 105,864,308 (GRCm39) V483A probably damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Angptl2 A T 2: 33,133,751 (GRCm39) T358S possibly damaging Het
Apoh C T 11: 108,298,131 (GRCm39) P144S probably damaging Het
Arid1a A G 4: 133,408,355 (GRCm39) W1666R unknown Het
Asap3 A G 4: 135,960,957 (GRCm39) H223R possibly damaging Het
Bcl2l12 A G 7: 44,645,977 (GRCm39) S81P possibly damaging Het
Brd10 A C 19: 29,707,139 (GRCm39) probably null Het
C8a A G 4: 104,674,822 (GRCm39) S550P probably benign Het
Cacna2d1 C G 5: 16,139,973 (GRCm39) probably benign Het
Ccdc170 A G 10: 4,470,803 (GRCm39) T216A probably benign Het
Chd7 A T 4: 8,859,197 (GRCm39) K2429I probably damaging Het
Cimap1c C T 9: 56,759,783 (GRCm39) probably null Het
Clip3 T C 7: 30,001,377 (GRCm39) V342A possibly damaging Het
Cst5 C T 2: 149,247,496 (GRCm39) L71F probably benign Het
Cyp20a1 T C 1: 60,393,799 (GRCm39) F139S probably damaging Het
Dclre1b T A 3: 103,710,430 (GRCm39) R494W probably benign Het
Dicer1 A G 12: 104,660,969 (GRCm39) I1695T probably damaging Het
Dnah7a A G 1: 53,458,858 (GRCm39) L3760P probably damaging Het
Dock1 A G 7: 134,765,072 (GRCm39) D1688G possibly damaging Het
Drosha G A 15: 12,889,742 (GRCm39) R870Q probably damaging Het
Dsg2 G T 18: 20,713,675 (GRCm39) M215I probably benign Het
Dst A T 1: 34,233,651 (GRCm39) D3453V possibly damaging Het
Epha10 A T 4: 124,796,365 (GRCm39) Y358F Het
Ermp1 A T 19: 29,590,054 (GRCm39) M853K probably benign Het
Hace1 T G 10: 45,577,075 (GRCm39) I823S probably benign Het
Hectd3 A T 4: 116,853,785 (GRCm39) Y227F probably benign Het
Hells A G 19: 38,945,501 (GRCm39) N580S probably benign Het
Igkv12-44 A G 6: 69,791,718 (GRCm39) F82L probably damaging Het
Inpp5d A G 1: 87,623,122 (GRCm39) D405G probably damaging Het
Itsn2 G A 12: 4,758,198 (GRCm39) R1508H probably benign Het
Limk1 A T 5: 134,686,825 (GRCm39) probably null Het
Lingo1 T A 9: 56,528,167 (GRCm39) K147* probably null Het
Ltn1 T C 16: 87,194,787 (GRCm39) S1371G probably benign Het
Mab21l1 A G 3: 55,691,307 (GRCm39) D298G possibly damaging Het
Macf1 A T 4: 123,366,082 (GRCm39) V2893E probably benign Het
Mapk8ip1 T C 2: 92,219,489 (GRCm39) D114G probably benign Het
Med15 A T 16: 17,540,729 (GRCm39) W6R probably benign Het
Mrps34 T C 17: 25,114,431 (GRCm39) L97P probably damaging Het
Myrfl A T 10: 116,697,417 (GRCm39) F36I possibly damaging Het
Nifk G A 1: 118,260,204 (GRCm39) S253N probably damaging Het
Nmnat1 T A 4: 149,557,758 (GRCm39) T95S probably damaging Het
Oasl1 T A 5: 115,073,985 (GRCm39) I298N probably damaging Het
Or51a8 A G 7: 102,549,760 (GRCm39) Y62C probably benign Het
Or56b35 T G 7: 104,963,712 (GRCm39) L167R probably damaging Het
Or8g37 A T 9: 39,731,423 (GRCm39) M163L probably benign Het
Polr2b C T 5: 77,468,913 (GRCm39) R230* probably null Het
Prkra T A 2: 76,477,545 (GRCm39) E53D probably benign Het
Rasgrp4 T A 7: 28,845,405 (GRCm39) L376Q probably damaging Het
Rwdd3 A G 3: 120,964,961 (GRCm39) S65P probably benign Het
Satb1 G A 17: 52,090,029 (GRCm39) P273S probably damaging Het
Scg3 T C 9: 75,589,374 (GRCm39) E93G probably damaging Het
Sf3a1 T C 11: 4,117,724 (GRCm39) F162S possibly damaging Het
Sorcs1 A G 19: 50,250,701 (GRCm39) Y377H probably damaging Het
Sptbn4 G A 7: 27,108,439 (GRCm39) A661V possibly damaging Het
Stk36 A G 1: 74,673,479 (GRCm39) N996S unknown Het
Tbca A T 13: 94,968,923 (GRCm39) I37F probably damaging Het
Tc2n A T 12: 101,672,716 (GRCm39) V75E probably damaging Het
Tdrkh A T 3: 94,333,263 (GRCm39) S243C probably damaging Het
Tjp1 T C 7: 64,964,438 (GRCm39) D911G probably damaging Het
Tmbim6 A G 15: 99,299,324 (GRCm39) probably benign Het
Tob1 T A 11: 94,104,708 (GRCm39) D81E probably benign Het
Ttpal T A 2: 163,448,945 (GRCm39) probably null Het
Usp37 A T 1: 74,534,787 (GRCm39) probably null Het
Vmn1r235 A G 17: 21,482,658 (GRCm39) I328V probably benign Het
Vmn1r28 T A 6: 58,242,850 (GRCm39) L231* probably null Het
Xirp1 G A 9: 119,848,176 (GRCm39) Q236* probably null Het
Zc3h7b A G 15: 81,664,682 (GRCm39) T514A probably damaging Het
Zfp524 A G 7: 5,021,200 (GRCm39) I243V probably benign Het
Zfp655 T A 5: 145,181,542 (GRCm39) Y467N possibly damaging Het
Zfp985 A T 4: 147,667,388 (GRCm39) K85N possibly damaging Het
Other mutations in Chd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Chd8 APN 14 52,463,595 (GRCm39) missense probably damaging 0.99
IGL00694:Chd8 APN 14 52,455,427 (GRCm39) missense probably damaging 1.00
IGL01011:Chd8 APN 14 52,468,989 (GRCm39) missense possibly damaging 0.86
IGL01022:Chd8 APN 14 52,474,450 (GRCm39) missense probably benign
IGL01066:Chd8 APN 14 52,455,223 (GRCm39) missense probably damaging 1.00
IGL01083:Chd8 APN 14 52,458,877 (GRCm39) missense probably damaging 1.00
IGL01313:Chd8 APN 14 52,448,032 (GRCm39) missense probably damaging 1.00
IGL01396:Chd8 APN 14 52,442,044 (GRCm39) unclassified probably benign
IGL01476:Chd8 APN 14 52,442,947 (GRCm39) missense probably benign 0.32
IGL01731:Chd8 APN 14 52,450,111 (GRCm39) missense probably benign 0.12
IGL01895:Chd8 APN 14 52,436,551 (GRCm39) missense probably benign 0.00
IGL02090:Chd8 APN 14 52,464,691 (GRCm39) critical splice donor site probably null
IGL02344:Chd8 APN 14 52,439,107 (GRCm39) missense probably damaging 1.00
IGL02573:Chd8 APN 14 52,457,191 (GRCm39) missense possibly damaging 0.95
IGL02601:Chd8 APN 14 52,451,757 (GRCm39) missense possibly damaging 0.94
IGL02617:Chd8 APN 14 52,472,648 (GRCm39) missense probably benign 0.34
IGL02873:Chd8 APN 14 52,459,970 (GRCm39) missense probably damaging 0.99
IGL02974:Chd8 APN 14 52,439,158 (GRCm39) splice site probably null
IGL03058:Chd8 APN 14 52,455,730 (GRCm39) missense probably damaging 1.00
IGL03076:Chd8 APN 14 52,463,619 (GRCm39) splice site probably benign
IGL03239:Chd8 APN 14 52,465,005 (GRCm39) missense possibly damaging 0.92
PIT4431001:Chd8 UTSW 14 52,455,706 (GRCm39) missense probably damaging 0.98
PIT4468001:Chd8 UTSW 14 52,455,338 (GRCm39) missense possibly damaging 0.95
PIT4468001:Chd8 UTSW 14 52,445,453 (GRCm39) missense probably benign
R0006:Chd8 UTSW 14 52,472,750 (GRCm39) missense possibly damaging 0.51
R0006:Chd8 UTSW 14 52,472,750 (GRCm39) missense possibly damaging 0.51
R0022:Chd8 UTSW 14 52,470,312 (GRCm39) missense probably benign 0.00
R0115:Chd8 UTSW 14 52,474,663 (GRCm39) missense probably benign 0.00
R0131:Chd8 UTSW 14 52,442,783 (GRCm39) missense probably benign 0.15
R0131:Chd8 UTSW 14 52,442,783 (GRCm39) missense probably benign 0.15
R0132:Chd8 UTSW 14 52,442,783 (GRCm39) missense probably benign 0.15
R0419:Chd8 UTSW 14 52,441,517 (GRCm39) missense probably benign 0.24
R0440:Chd8 UTSW 14 52,442,283 (GRCm39) missense possibly damaging 0.91
R0452:Chd8 UTSW 14 52,452,044 (GRCm39) missense probably damaging 1.00
R0481:Chd8 UTSW 14 52,474,663 (GRCm39) missense probably benign 0.00
R0624:Chd8 UTSW 14 52,457,214 (GRCm39) missense possibly damaging 0.65
R0650:Chd8 UTSW 14 52,439,761 (GRCm39) missense probably benign 0.09
R0691:Chd8 UTSW 14 52,450,890 (GRCm39) missense probably damaging 0.96
R0790:Chd8 UTSW 14 52,441,482 (GRCm39) missense probably benign 0.07
R0835:Chd8 UTSW 14 52,441,482 (GRCm39) missense probably benign 0.07
R1180:Chd8 UTSW 14 52,458,565 (GRCm39) missense probably damaging 1.00
R1411:Chd8 UTSW 14 52,462,103 (GRCm39) missense probably benign
R1725:Chd8 UTSW 14 52,470,030 (GRCm39) missense probably benign 0.08
R1838:Chd8 UTSW 14 52,442,340 (GRCm39) missense probably benign 0.11
R1839:Chd8 UTSW 14 52,442,340 (GRCm39) missense probably benign 0.11
R1968:Chd8 UTSW 14 52,458,450 (GRCm39) missense probably damaging 0.98
R2020:Chd8 UTSW 14 52,452,698 (GRCm39) missense probably damaging 1.00
R2024:Chd8 UTSW 14 52,468,950 (GRCm39) missense probably benign 0.23
R2139:Chd8 UTSW 14 52,474,428 (GRCm39) missense probably benign 0.32
R2163:Chd8 UTSW 14 52,436,275 (GRCm39) missense possibly damaging 0.53
R2342:Chd8 UTSW 14 52,442,674 (GRCm39) missense probably benign 0.25
R2844:Chd8 UTSW 14 52,441,952 (GRCm39) missense possibly damaging 0.92
R3500:Chd8 UTSW 14 52,443,110 (GRCm39) missense probably benign 0.00
R3861:Chd8 UTSW 14 52,474,578 (GRCm39) missense probably benign 0.13
R4154:Chd8 UTSW 14 52,444,668 (GRCm39) unclassified probably benign
R4445:Chd8 UTSW 14 52,441,984 (GRCm39) splice site probably null
R4628:Chd8 UTSW 14 52,444,372 (GRCm39) missense probably benign 0.03
R4779:Chd8 UTSW 14 52,468,963 (GRCm39) missense probably damaging 1.00
R4783:Chd8 UTSW 14 52,442,825 (GRCm39) missense probably damaging 1.00
R4784:Chd8 UTSW 14 52,442,825 (GRCm39) missense probably damaging 1.00
R5001:Chd8 UTSW 14 52,441,372 (GRCm39) missense probably benign 0.09
R5280:Chd8 UTSW 14 52,442,582 (GRCm39) missense possibly damaging 0.68
R5331:Chd8 UTSW 14 52,439,571 (GRCm39) intron probably benign
R5348:Chd8 UTSW 14 52,470,155 (GRCm39) missense probably damaging 1.00
R5375:Chd8 UTSW 14 52,441,611 (GRCm39) missense probably damaging 1.00
R5470:Chd8 UTSW 14 52,450,066 (GRCm39) missense probably damaging 1.00
R5479:Chd8 UTSW 14 52,452,652 (GRCm39) missense probably benign 0.15
R5488:Chd8 UTSW 14 52,450,505 (GRCm39) intron probably benign
R5489:Chd8 UTSW 14 52,450,505 (GRCm39) intron probably benign
R5499:Chd8 UTSW 14 52,441,888 (GRCm39) critical splice donor site probably null
R5988:Chd8 UTSW 14 52,455,395 (GRCm39) missense probably damaging 1.00
R6046:Chd8 UTSW 14 52,458,528 (GRCm39) missense possibly damaging 0.60
R6125:Chd8 UTSW 14 52,444,491 (GRCm39) missense probably benign 0.16
R6212:Chd8 UTSW 14 52,439,155 (GRCm39) missense probably damaging 1.00
R6337:Chd8 UTSW 14 52,441,566 (GRCm39) missense probably damaging 1.00
R6394:Chd8 UTSW 14 52,440,042 (GRCm39) missense possibly damaging 0.66
R6576:Chd8 UTSW 14 52,453,533 (GRCm39) missense probably damaging 1.00
R6590:Chd8 UTSW 14 52,464,694 (GRCm39) missense possibly damaging 0.60
R6690:Chd8 UTSW 14 52,464,694 (GRCm39) missense possibly damaging 0.60
R6786:Chd8 UTSW 14 52,464,125 (GRCm39) missense probably benign 0.33
R6913:Chd8 UTSW 14 52,451,951 (GRCm39) missense probably damaging 0.99
R7090:Chd8 UTSW 14 52,452,677 (GRCm39) missense probably damaging 0.99
R7107:Chd8 UTSW 14 52,450,129 (GRCm39) missense probably benign 0.07
R7138:Chd8 UTSW 14 52,451,955 (GRCm39) missense possibly damaging 0.83
R7383:Chd8 UTSW 14 52,452,776 (GRCm39) missense probably damaging 1.00
R7392:Chd8 UTSW 14 52,470,312 (GRCm39) missense probably benign
R7625:Chd8 UTSW 14 52,474,534 (GRCm39) missense probably benign 0.04
R7790:Chd8 UTSW 14 52,463,539 (GRCm39) missense probably damaging 1.00
R7862:Chd8 UTSW 14 52,451,734 (GRCm39) missense probably damaging 1.00
R7937:Chd8 UTSW 14 52,464,963 (GRCm39) missense probably benign 0.02
R8092:Chd8 UTSW 14 52,455,184 (GRCm39) missense probably damaging 1.00
R8237:Chd8 UTSW 14 52,450,809 (GRCm39) missense probably damaging 1.00
R8321:Chd8 UTSW 14 52,470,024 (GRCm39) missense probably benign 0.01
R8371:Chd8 UTSW 14 52,470,275 (GRCm39) missense probably benign
R8425:Chd8 UTSW 14 52,448,012 (GRCm39) missense probably damaging 1.00
R8674:Chd8 UTSW 14 52,450,463 (GRCm39) missense probably damaging 0.98
R8794:Chd8 UTSW 14 52,441,904 (GRCm39) missense probably damaging 0.98
R8828:Chd8 UTSW 14 52,448,037 (GRCm39) frame shift probably null
R8909:Chd8 UTSW 14 52,450,389 (GRCm39) missense possibly damaging 0.82
R9194:Chd8 UTSW 14 52,439,650 (GRCm39) missense probably benign 0.01
R9278:Chd8 UTSW 14 52,472,627 (GRCm39) missense probably benign 0.01
R9489:Chd8 UTSW 14 52,457,055 (GRCm39) missense probably damaging 0.98
R9501:Chd8 UTSW 14 52,452,045 (GRCm39) missense probably benign 0.04
R9546:Chd8 UTSW 14 52,453,408 (GRCm39) missense probably damaging 1.00
R9605:Chd8 UTSW 14 52,457,055 (GRCm39) missense probably damaging 0.98
R9694:Chd8 UTSW 14 52,441,341 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- GCTGCCTAAATGCTGAGCTTAC -3'
(R):5'- AGAGTCCATGCTATCTAAGGGG -3'

Sequencing Primer
(F):5'- TTTCGTAAACTGGGCCGC -3'
(R):5'- TCCATGCTATCTAAGGGGAATAAG -3'
Posted On 2019-10-07