Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02974:Chd8'

406274

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chd8

Ensembl Gene

ENSMUSG00000053754

Gene Name

chromodomain helicase DNA binding protein 8

Synonyms

5830451P18Rik, Duplin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02974

Quality Score

Status

Chromosome

Chromosomal Location

52435608-52495237 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to A at 52439158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046709] [ENSMUST00000089752] [ENSMUST00000149975] [ENSMUST00000200169] [ENSMUST00000227897]

AlphaFold

Q09XV5

Predicted Effect

probably benign
Transcript: ENSMUST00000046709

SMART Domains

Protein: ENSMUSP00000042283
Gene: ENSMUSG00000035726

Domain	Start	End	E-Value	Type
FACT-Spt16_Nlob	5	168	2.95e-87	SMART
Pfam:Peptidase_M24	181	411	2.9e-35	PFAM
low complexity region	435	449	N/A	INTRINSIC
coiled coil region	462	493	N/A	INTRINSIC
SPT16	529	689	3.38e-96	SMART
Rtt106	806	896	1.61e-38	SMART
low complexity region	926	946	N/A	INTRINSIC
low complexity region	951	988	N/A	INTRINSIC
coiled coil region	994	1023	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089752
AA Change: N2373I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087184
Gene: ENSMUSG00000053754
AA Change: N2373I

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

noncoding transcript
Transcript: ENSMUST00000134329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147827

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 benign
Transcript: ENSMUST00000200169
AA Change: N2373I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142890
Gene: ENSMUSG00000053754
AA Change: N2373I

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

noncoding transcript
Transcript: ENSMUST00000180857

Predicted Effect

probably damaging
Transcript: ENSMUST00000227897
AA Change: N47I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227448

Coding Region Coverage

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	C	T	5: 48,545,479 (GRCm39)	T242M	probably damaging	Het
Abcg3	A	T	5: 105,116,129 (GRCm39)	I235N	probably damaging	Het
Agbl3	T	C	6: 34,776,757 (GRCm39)	L416S	probably damaging	Het
Alcam	T	C	16: 52,116,079 (GRCm39)	D165G	probably benign	Het
Aldh18a1	T	A	19: 40,557,528 (GRCm39)	I341F	probably damaging	Het
Amn	T	C	12: 111,237,575 (GRCm39)	V7A	probably benign	Het
Apc	C	T	18: 34,401,436 (GRCm39)		probably benign	Het
Arg2	T	C	12: 79,197,566 (GRCm39)	Y195H	probably damaging	Het
Bdp1	A	T	13: 100,191,800 (GRCm39)	M22K	probably benign	Het
Cacna1s	T	G	1: 136,020,355 (GRCm39)	N797K	possibly damaging	Het
Clstn2	G	A	9: 97,414,760 (GRCm39)	T378M	probably damaging	Het
Elf2	A	G	3: 51,165,110 (GRCm39)	V298A	probably damaging	Het
Fbn1	C	T	2: 125,188,250 (GRCm39)	D1530N	probably null	Het
Fcrl2	A	T	3: 87,164,704 (GRCm39)	I274N	possibly damaging	Het
Fmo3	C	T	1: 162,810,619 (GRCm39)	E24K	probably damaging	Het
Fndc3b	A	T	3: 27,542,425 (GRCm39)	N408K	probably damaging	Het
Foxn2	A	T	17: 88,770,543 (GRCm39)	N130I	probably damaging	Het
Fscb	T	A	12: 64,518,299 (GRCm39)	I1056F	unknown	Het
Gimap5	A	C	6: 48,730,311 (GRCm39)	T294P	possibly damaging	Het
Gm20489	T	C	X: 100,307,320 (GRCm39)	Q11R	probably damaging	Het
Gpr3	T	C	4: 132,938,220 (GRCm39)	T151A	possibly damaging	Het
Gzmc	T	A	14: 56,471,451 (GRCm39)	H30L	probably damaging	Het
Ints6l	C	A	X: 55,552,296 (GRCm39)	S845Y	probably benign	Het
Iqcf3	A	T	9: 106,430,844 (GRCm39)	C101*	probably null	Het
Krt82	G	A	15: 101,459,020 (GRCm39)	Q7*	probably null	Het
L3mbtl1	A	T	2: 162,812,103 (GRCm39)	H716L	possibly damaging	Het
Lefty1	C	A	1: 180,762,842 (GRCm39)	H56Q	probably benign	Het
Lrp1	T	C	10: 127,390,885 (GRCm39)	Y3004C	probably damaging	Het
Lrp10	C	A	14: 54,705,341 (GRCm39)	S177*	probably null	Het
Naa15	A	G	3: 51,368,628 (GRCm39)	K576R	possibly damaging	Het
Naip2	A	G	13: 100,298,186 (GRCm39)	S617P	probably damaging	Het
Olfm1	T	G	2: 28,119,701 (GRCm39)	N445K	probably damaging	Het
Or4ac1-ps1	C	T	2: 88,370,579 (GRCm39)		silent	Het
Or5b24	T	G	19: 12,912,399 (GRCm39)	V99G	probably benign	Het
Ostm1	T	A	10: 42,559,158 (GRCm39)	N139K	probably damaging	Het
Ovol1	A	G	19: 5,601,177 (GRCm39)	Y205H	probably damaging	Het
Pappa	C	T	4: 65,123,172 (GRCm39)	L836F	probably damaging	Het
Pcdhb15	C	A	18: 37,608,067 (GRCm39)	T433N	probably damaging	Het
Ppfia2	A	G	10: 106,636,637 (GRCm39)	K229E	probably benign	Het
Ppm1b	T	A	17: 85,301,252 (GRCm39)	V44E	possibly damaging	Het
Rapgef1	T	C	2: 29,600,228 (GRCm39)	F611L	possibly damaging	Het
Rev3l	T	A	10: 39,738,743 (GRCm39)	Y2832*	probably null	Het
Robo1	T	A	16: 72,803,750 (GRCm39)	Y1099N	probably benign	Het
Sf3b1	T	C	1: 55,046,866 (GRCm39)	H226R	probably benign	Het
Slc26a4	C	T	12: 31,579,553 (GRCm39)	V570I	probably damaging	Het
Slc27a1	C	A	8: 72,036,847 (GRCm39)	A361D	probably damaging	Het
Srp68	T	C	11: 116,137,051 (GRCm39)	N549D	probably benign	Het
Terb1	G	T	8: 105,221,600 (GRCm39)	S202*	probably null	Het
Tmc1	T	A	19: 20,878,208 (GRCm39)	M96L	probably benign	Het
Tmprss11d	A	G	5: 86,454,235 (GRCm39)	V190A	probably damaging	Het
Ttll6	G	A	11: 96,047,528 (GRCm39)	C709Y	probably benign	Het
Uba1	A	G	X: 20,544,959 (GRCm39)	H712R	probably benign	Het
Unc80	A	C	1: 66,564,817 (GRCm39)	T835P	possibly damaging	Het
Vmn2r14	G	A	5: 109,369,292 (GRCm39)	P94S	possibly damaging	Het
Yes1	C	T	5: 32,818,112 (GRCm39)	A383V	probably damaging	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
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
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

Posted On

2016-08-02