Incidental Mutation 'R0440:Chd8'
ID 46710
Institutional Source Beutler Lab
Gene Symbol Chd8
Ensembl Gene ENSMUSG00000053754
Gene Name chromodomain helicase DNA binding protein 8
Synonyms 5830451P18Rik, Duplin
MMRRC Submission 038641-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0440 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 14
Chromosomal Location 52435608-52495237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52442283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 2096 (T2096S)
Ref Sequence ENSEMBL: ENSMUSP00000142890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089752] [ENSMUST00000149975] [ENSMUST00000200169] [ENSMUST00000227897]
AlphaFold Q09XV5
Predicted Effect possibly damaging
Transcript: ENSMUST00000089752
AA Change: T2096S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087184
Gene: ENSMUSG00000053754
AA Change: T2096S

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 noncoding transcript
Transcript: ENSMUST00000134329
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147827
Predicted Effect probably benign
Transcript: ENSMUST00000149975
AA Change: T756S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000122995
Gene: ENSMUSG00000053754
AA Change: T756S

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 possibly damaging
Transcript: ENSMUST00000200169
AA Change: T2096S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142890
Gene: ENSMUSG00000053754
AA Change: T2096S

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 noncoding transcript
Transcript: ENSMUST00000180857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227448
Predicted Effect probably benign
Transcript: ENSMUST00000227897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226681
Meta Mutation Damage Score 0.0582 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 99% (68/69)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt G A 15: 83,112,694 (GRCm39) R30W probably damaging Het
Adam7 T C 14: 68,748,305 (GRCm39) probably null Het
Agl A T 3: 116,552,455 (GRCm39) L1158Q probably damaging Het
Akap9 T C 5: 4,114,569 (GRCm39) S66P probably damaging Het
Akr1c20 T A 13: 4,537,207 (GRCm39) D316V probably benign Het
App C A 16: 84,853,302 (GRCm39) E259* probably null Het
Arhgef4 A G 1: 34,784,529 (GRCm39) probably null Het
Armc9 G A 1: 86,121,984 (GRCm39) probably null Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Btaf1 C T 19: 36,964,053 (GRCm39) P875S probably damaging Het
Cc2d1b T A 4: 108,483,013 (GRCm39) probably null Het
Ccar1 C T 10: 62,616,236 (GRCm39) V165I possibly damaging Het
Ccdc106 A T 7: 5,063,244 (GRCm39) I250F probably damaging Het
Ccny T C 18: 9,332,917 (GRCm39) I205V probably benign Het
Cfap52 T A 11: 67,844,914 (GRCm39) I52L probably benign Het
Clstn3 G A 6: 124,428,372 (GRCm39) T423I probably damaging Het
Col13a1 T C 10: 61,703,262 (GRCm39) D440G possibly damaging Het
Dclk3 G A 9: 111,298,231 (GRCm39) V592M probably damaging Het
Ddx31 A T 2: 28,747,144 (GRCm39) I208F probably damaging Het
Dlat A T 9: 50,556,419 (GRCm39) probably null Het
Eml4 T C 17: 83,753,487 (GRCm39) probably null Het
Enpp2 T A 15: 54,710,633 (GRCm39) probably benign Het
Fryl T C 5: 73,244,315 (GRCm39) S38G possibly damaging Het
Gcnt1 G A 19: 17,307,680 (GRCm39) T15I probably benign Het
Gm21834 T C 17: 58,049,121 (GRCm39) T32A possibly damaging Het
Golga2 A G 2: 32,192,945 (GRCm39) D394G probably damaging Het
Gtf3c4 G T 2: 28,730,181 (GRCm39) probably null Het
Igkv4-69 A G 6: 69,261,253 (GRCm39) probably benign Het
Inpp5j T C 11: 3,451,150 (GRCm39) R500G possibly damaging Het
Kif5b A T 18: 6,226,980 (GRCm39) probably benign Het
Klhl36 A G 8: 120,603,290 (GRCm39) E515G probably damaging Het
Lifr C T 15: 7,186,672 (GRCm39) R59* probably null Het
Lrif1 A T 3: 106,641,714 (GRCm39) Q10L possibly damaging Het
Lrp8 A G 4: 107,726,295 (GRCm39) E908G probably damaging Het
Lrrc23 A T 6: 124,747,667 (GRCm39) D307E probably benign Het
Mpv17l T C 16: 13,762,583 (GRCm39) F27L probably damaging Het
Mta3 C T 17: 84,074,016 (GRCm39) A76V probably damaging Het
Muc5ac T A 7: 141,345,771 (GRCm39) Y202* probably null Het
Naprt A G 15: 75,762,918 (GRCm39) probably benign Het
Npr2 T A 4: 43,650,315 (GRCm39) V960D probably damaging Het
Oca2 A T 7: 56,073,100 (GRCm39) Y765F probably benign Het
Or2d2 A T 7: 106,727,939 (GRCm39) H220Q probably benign Het
Plxna2 T A 1: 194,326,712 (GRCm39) Y215* probably null Het
Prdm16 G A 4: 154,561,084 (GRCm39) probably benign Het
Ptn A G 6: 36,721,432 (GRCm39) S3P probably benign Het
Pus10 T C 11: 23,623,331 (GRCm39) probably benign Het
Rad21 A T 15: 51,831,754 (GRCm39) D442E probably benign Het
Rmdn2 A G 17: 79,975,384 (GRCm39) H291R probably damaging Het
Rp1 A G 1: 4,415,863 (GRCm39) S1750P probably damaging Het
Samd4b A T 7: 28,107,585 (GRCm39) I228N probably benign Het
Sdr9c7 G T 10: 127,734,822 (GRCm39) probably benign Het
Slc13a2 T C 11: 78,294,001 (GRCm39) N254D probably benign Het
Slc16a8 T A 15: 79,136,807 (GRCm39) I132F probably damaging Het
Slc18b1 T A 10: 23,694,976 (GRCm39) Y274N probably benign Het
Slc45a2 A T 15: 11,000,903 (GRCm39) M1L probably benign Het
Smc1b A G 15: 84,996,874 (GRCm39) probably benign Het
Stab2 T C 10: 86,785,792 (GRCm39) S617G probably benign Het
Stk10 A G 11: 32,554,190 (GRCm39) M626V probably damaging Het
Synpo2l T G 14: 20,711,466 (GRCm39) I385L possibly damaging Het
Tmprss11d T C 5: 86,486,671 (GRCm39) Y73C probably damaging Het
Ttc21b A G 2: 66,066,726 (GRCm39) V309A probably benign Het
Tubgcp6 A G 15: 88,987,268 (GRCm39) I1235T probably benign Het
Usp8 A G 2: 126,567,310 (GRCm39) I110V probably benign Het
Vps13c G A 9: 67,880,143 (GRCm39) G3442S probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Zfp207 T A 11: 80,286,333 (GRCm39) probably benign Het
Zfp748 A C 13: 67,701,144 (GRCm39) probably null 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
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
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'- CGGTCAGCAGCTAGAAATCACACAG -3'
(R):5'- GCGTAGGCTCTTCAGATACAGCTC -3'

Sequencing Primer
(F):5'- ATCACACAGCATTTGTGGGC -3'
(R):5'- AGATACAGCTCCTCTGTCCCG -3'
Posted On 2013-06-11