Mutagenetix > Incidental Mutation

Incidental Mutation 'R8828:Chd8'

673633

Institutional Source

Beutler Lab

Gene Symbol

Chd8

Ensembl Gene

ENSMUSG00000053754

Gene Name

chromodomain helicase DNA binding protein 8

Synonyms

5830451P18Rik, Duplin

MMRRC Submission

068730-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8828 (G1)

Quality Score

179.468

Status

Not validated

Chromosome

Chromosomal Location

52435608-52495237 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAGGGTCTGCCCTCATGGTATTGTATTTCTCATAGCCTAAAAGAACAAGGG to C at 52448037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000087184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089752] [ENSMUST00000149975] [ENSMUST00000200169]

AlphaFold

Q09XV5

Predicted Effect

probably null
Transcript: ENSMUST00000089752

SMART Domains

Protein: ENSMUSP00000087184
Gene: ENSMUSG00000053754

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000149975

SMART Domains

Protein: ENSMUSP00000122995
Gene: ENSMUSG00000053754

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000200169

SMART Domains

Protein: ENSMUSP00000142890
Gene: ENSMUSG00000053754

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	T	16: 56,507,455 (GRCm39)	Y1091F	probably damaging	Het
Arl8b	A	G	6: 108,792,250 (GRCm39)	I104V	probably benign	Het
Asb2	C	A	12: 103,304,457 (GRCm39)	G16C	probably benign	Het
Bptf	T	C	11: 106,945,836 (GRCm39)	S2468G	probably damaging	Het
Capns1	T	A	7: 29,889,963 (GRCm39)	D182V	probably damaging	Het
Cct5	T	C	15: 31,594,658 (GRCm39)	H182R	possibly damaging	Het
Cd200	G	A	16: 45,215,157 (GRCm39)	R165C	probably benign	Het
Chd3	C	T	11: 69,247,097 (GRCm39)	V1024I	probably damaging	Het
Csmd1	T	C	8: 16,048,794 (GRCm39)	S2303G	probably benign	Het
Ctsl	A	G	13: 64,514,314 (GRCm39)	S255P	probably damaging	Het
Dclre1c	T	G	2: 3,444,714 (GRCm39)	N268K	possibly damaging	Het
Dock10	T	C	1: 80,521,134 (GRCm39)	D1158G	probably damaging	Het
Dock6	A	T	9: 21,757,797 (GRCm39)	D102E	probably benign	Het
Dvl3	T	A	16: 20,344,495 (GRCm39)	D290E	probably damaging	Het
Fam72a	T	A	1: 131,458,461 (GRCm39)	C74*	probably null	Het
Gnrh1	T	A	14: 67,985,334 (GRCm39)	L73Q	probably damaging	Het
Grina	T	A	15: 76,132,497 (GRCm39)	S115T	probably damaging	Het
Grm3	A	T	5: 9,554,725 (GRCm39)	S856T	probably benign	Het
Hars1	C	A	18: 36,899,996 (GRCm39)	R490L	possibly damaging	Het
Ide	T	A	19: 37,292,241 (GRCm39)	K318I		Het
Immt	C	A	6: 71,829,762 (GRCm39)	S156*	probably null	Het
Iqcd	A	G	5: 120,738,232 (GRCm39)	I17V	possibly damaging	Het
Klhdc1	T	C	12: 69,298,808 (GRCm39)	V131A	probably damaging	Het
Klk6	C	A	7: 43,478,061 (GRCm39)	N144K		Het
Klk6	T	C	7: 43,478,062 (GRCm39)	C145R	probably damaging	Het
Lrfn2	A	T	17: 49,404,132 (GRCm39)	T752S	probably damaging	Het
Lrguk	A	C	6: 34,080,572 (GRCm39)	Q1269P	unknown	Het
Lrwd1	G	T	5: 136,164,787 (GRCm39)	Q7K	probably benign	Het
Macf1	A	T	4: 123,302,204 (GRCm39)	M766K	probably benign	Het
Myo3a	A	T	2: 22,245,864 (GRCm39)	T4S	probably benign	Het
Neb	T	C	2: 52,084,438 (GRCm39)	Y5587C	probably damaging	Het
Nf1	A	T	11: 79,286,679 (GRCm39)		probably null	Het
Npepps	G	T	11: 97,131,823 (GRCm39)	R344S	probably damaging	Het
Nudt16l2	C	T	9: 105,021,648 (GRCm39)	D133N	probably damaging	Het
Or52p1	A	T	7: 104,267,486 (GRCm39)	Y200F	probably damaging	Het
Or5v1b	A	G	17: 37,841,333 (GRCm39)	N155S	probably damaging	Het
Pcnx1	T	A	12: 82,042,597 (GRCm39)	W2286R	probably damaging	Het
Ppm1g	A	T	5: 31,365,768 (GRCm39)	N51K	probably benign	Het
Ppp1r13b	T	C	12: 111,799,981 (GRCm39)	K722E	probably damaging	Het
Prim1	A	G	10: 127,859,761 (GRCm39)	S318G	probably damaging	Het
Prl4a1	T	C	13: 28,207,307 (GRCm39)	Y194H	probably damaging	Het
Prl7c1	A	T	13: 27,957,854 (GRCm39)	D195E	probably benign	Het
Psmb2	A	G	4: 126,603,330 (GRCm39)	D186G	probably benign	Het
Ptprq	A	G	10: 107,482,513 (GRCm39)	V1020A	probably benign	Het
Scgb2b20	T	C	7: 33,065,689 (GRCm39)	T13A	unknown	Het
Scly	C	A	1: 91,244,830 (GRCm39)	H310Q	possibly damaging	Het
Sdccag8	G	A	1: 176,783,473 (GRCm39)	E661K	probably damaging	Het
Sema4f	G	A	6: 82,894,873 (GRCm39)	L441F	probably benign	Het
Sema4f	A	C	6: 82,894,874 (GRCm39)	Y440*	probably null	Het
Tmem262	C	T	19: 6,130,118 (GRCm39)		probably benign	Het
Trim33	A	G	3: 103,236,392 (GRCm39)	T501A	probably damaging	Het
Trio	C	A	15: 27,741,150 (GRCm39)	V2692F	possibly damaging	Het
Ttn	A	T	2: 76,772,774 (GRCm39)	V2453E	unknown	Het
Ttn	G	T	2: 76,541,956 (GRCm39)	R33677S	probably benign	Het
Uaca	T	A	9: 60,778,852 (GRCm39)	S1080T	probably benign	Het
Vav3	T	A	3: 109,555,051 (GRCm39)	C660S	probably benign	Het
Vmn1r229	T	A	17: 21,034,990 (GRCm39)	D78E	probably damaging	Het
Vmn2r73	A	G	7: 85,521,179 (GRCm39)	V263A	probably damaging	Het
Yeats2	A	T	16: 19,969,260 (GRCm39)	D17V	probably benign	Het
Zfp658	T	A	7: 43,222,240 (GRCm39)	W172R	probably benign	Het
Zfp804a	A	C	2: 82,089,459 (GRCm39)	H1096P	possibly damaging	Het
Zkscan14	C	T	5: 145,138,375 (GRCm39)	W37*	probably null	Het
Zmynd15	A	T	11: 70,355,017 (GRCm39)	D468V	probably damaging	Het
Zmynd8	A	T	2: 165,654,466 (GRCm39)	V682E	probably benign	Het

Other mutations in Chd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TCCTACCATCAATCAAGGCTAG -3'
(R):5'- GTGACAGAACTAATAGGTTACTAGGC -3'

Sequencing Primer
(F):5'- CCATCAATCAAGGCTAGAGTTATG -3'
(R):5'- TTGATGATCTAAGCCAGGCATG -3'

Posted On

2021-07-15