Incidental Mutation 'R6913:Chd8'
ID 539199
Institutional Source Beutler Lab
Gene Symbol Chd8
Ensembl Gene ENSMUSG00000053754
Gene Name chromodomain helicase DNA binding protein 8
Synonyms 5830451P18Rik, Duplin
MMRRC Submission 045034-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6913 (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 52451951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1348 (E1348G)
Ref Sequence ENSEMBL: ENSMUSP00000142890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089752] [ENSMUST00000149975] [ENSMUST00000200169]
AlphaFold Q09XV5
Predicted Effect probably damaging
Transcript: ENSMUST00000089752
AA Change: E1348G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087184
Gene: ENSMUSG00000053754
AA Change: E1348G

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: ENSMUST00000149975
SMART Domains Protein: ENSMUSP00000122995
Gene: ENSMUSG00000053754

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 damaging
Transcript: ENSMUST00000200169
AA Change: E1348G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142890
Gene: ENSMUSG00000053754
AA Change: E1348G

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
Meta Mutation Damage Score 0.4711 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.9%
Validation Efficiency 97% (74/76)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,197,494 (GRCm39) I619N possibly damaging Het
Accsl T C 2: 93,696,488 (GRCm39) K41E possibly damaging Het
Actr6 T C 10: 89,562,558 (GRCm39) E107G probably damaging Het
Adam7 T A 14: 68,771,100 (GRCm39) M9L probably benign Het
Adamts12 T A 15: 11,215,778 (GRCm39) H266Q probably damaging Het
Adamts16 A G 13: 70,877,017 (GRCm39) F1208S possibly damaging Het
Ankrd11 T C 8: 123,621,650 (GRCm39) D734G probably benign Het
Ap1b1 T C 11: 4,962,972 (GRCm39) V43A possibly damaging Het
Asnsd1 A G 1: 53,387,390 (GRCm39) V79A probably damaging Het
Aste1 T A 9: 105,274,607 (GRCm39) S221R probably benign Het
Ccndbp1 G A 2: 120,840,347 (GRCm39) E94K probably benign Het
Cdc34 G A 10: 79,520,937 (GRCm39) probably null Het
Cdh16 T C 8: 105,348,896 (GRCm39) D67G probably benign Het
Chl1 C T 6: 103,642,909 (GRCm39) Q216* probably null Het
Cse1l G A 2: 166,771,797 (GRCm39) V353I possibly damaging Het
Ctbp2 G A 7: 132,616,455 (GRCm39) S160F possibly damaging Het
Cyp1a1 C A 9: 57,607,576 (GRCm39) T68K probably damaging Het
Dennd11 T C 6: 40,383,851 (GRCm39) N397S possibly damaging Het
Dlgap2 T A 8: 14,828,374 (GRCm39) M594K probably benign Het
Dnah6 C T 6: 73,189,505 (GRCm39) E48K probably benign Het
Dock2 A G 11: 34,647,049 (GRCm39) V35A probably damaging Het
Edem2 A T 2: 155,568,594 (GRCm39) S73R probably damaging Het
Eps15 T C 4: 109,218,427 (GRCm39) V430A probably benign Het
Frem2 T C 3: 53,424,242 (GRCm39) N3065S probably damaging Het
Gal3st4 A T 5: 138,269,090 (GRCm39) S123R possibly damaging Het
Garnl3 T A 2: 32,876,841 (GRCm39) I937F possibly damaging Het
Gfod2 C T 8: 106,443,995 (GRCm39) V183M possibly damaging Het
Glipr1l1 T C 10: 111,898,339 (GRCm39) probably null Het
Gm7145 T G 1: 117,913,711 (GRCm39) C198G probably damaging Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
H2-Eb2 G A 17: 34,552,523 (GRCm39) A123T possibly damaging Het
Ighv1-55 T C 12: 115,172,129 (GRCm39) I7V probably benign Het
Itpripl2 G T 7: 118,090,332 (GRCm39) P76T possibly damaging Het
Kat6a C A 8: 23,393,215 (GRCm39) A231E possibly damaging Het
Lipo3 C T 19: 33,757,705 (GRCm39) V255I probably benign Het
Mamstr A T 7: 45,292,662 (GRCm39) M141L probably benign Het
Med13 A G 11: 86,210,702 (GRCm39) V480A probably benign Het
Mei1 A G 15: 81,973,810 (GRCm39) N523S probably benign Het
Mill2 A G 7: 18,590,351 (GRCm39) T144A probably null Het
Muc16 C A 9: 18,553,959 (GRCm39) L4111F unknown Het
Mylk2 G A 2: 152,755,610 (GRCm39) G258E possibly damaging Het
Myom2 T G 8: 15,115,710 (GRCm39) S42A probably benign Het
Nab1 C A 1: 52,503,995 (GRCm39) G401C possibly damaging Het
Nifk T C 1: 118,260,592 (GRCm39) V244A possibly damaging Het
Nipsnap2 C A 5: 129,830,357 (GRCm39) Q224K probably benign Het
Nop16 T G 13: 54,737,553 (GRCm39) K47Q probably damaging Het
Nup153 A T 13: 46,853,192 (GRCm39) S548R probably damaging Het
Or2at1 A C 7: 99,416,924 (GRCm39) D185A probably damaging Het
Or4g17 A G 2: 111,209,347 (GRCm39) M1V probably null Het
Or5b111 A G 19: 13,290,998 (GRCm39) I217T probably benign Het
Pard6g G A 18: 80,160,534 (GRCm39) V216I possibly damaging Het
Pcdh20 C T 14: 88,706,038 (GRCm39) V421I probably benign Het
Pcif1 G A 2: 164,726,224 (GRCm39) probably null Het
Pde11a C A 2: 76,168,084 (GRCm39) V290F probably damaging Het
Pisd T C 5: 32,894,773 (GRCm39) Y511C probably damaging Het
Polg A T 7: 79,110,405 (GRCm39) D276E probably damaging Het
Polr3b T C 10: 84,549,496 (GRCm39) V906A probably damaging Het
Prkcg C T 7: 3,362,335 (GRCm39) P270S probably benign Het
Rapgef2 T A 3: 78,993,281 (GRCm39) I884F probably damaging Het
Rpl13 C A 8: 123,830,014 (GRCm39) N113K possibly damaging Het
Rxra T A 2: 27,631,186 (GRCm39) I139N probably damaging Het
Sf3b5 T A 10: 12,884,487 (GRCm39) C41S probably benign Het
Spata31e3 G T 13: 50,399,293 (GRCm39) P1011H probably damaging Het
Stk24 C T 14: 121,540,221 (GRCm39) R126Q probably damaging Het
Taar8b T C 10: 23,967,963 (GRCm39) D77G possibly damaging Het
Tbc1d1 T A 5: 64,468,452 (GRCm39) C566S probably benign Het
Tenm3 A T 8: 48,751,972 (GRCm39) M948K probably damaging Het
Thbs4 T A 13: 92,894,444 (GRCm39) Q693L possibly damaging Het
Tnfrsf26 A T 7: 143,172,126 (GRCm39) C61* probably null Het
Trp63 A G 16: 25,707,918 (GRCm39) E636G probably damaging Het
Try5 T C 6: 41,288,266 (GRCm39) Y121C probably damaging Het
Ttn G T 2: 76,660,755 (GRCm39) probably benign Het
Vamp1 T A 6: 125,195,908 (GRCm39) V55D probably damaging Het
Vmn2r117 T C 17: 23,698,537 (GRCm39) N12S probably damaging Het
Vmn2r90 G A 17: 17,924,323 (GRCm39) G41S probably damaging Het
Zfp462 T A 4: 55,007,775 (GRCm39) D71E probably benign 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
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
R7471:Chd8 UTSW 14 52,441,569 (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'- GCTTGCCTAGGAAGAAACACA -3'
(R):5'- GTACTGGTGATTATTTCTTACAGTACA -3'

Sequencing Primer
(F):5'- CTTGCCTAGGAAGAAACACATATAG -3'
(R):5'- CTATGCGGCCATAATGGA -3'
Posted On 2018-11-06