Mutagenetix > Incidental Mutation

Incidental Mutation 'R5348:Chd8'

422750

Institutional Source

Beutler Lab

Gene Symbol

Chd8

Ensembl Gene

ENSMUSG00000053754

Gene Name

chromodomain helicase DNA binding protein 8

Synonyms

Duplin, 5830451P18Rik

MMRRC Submission

042927-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5348 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52198151-52257780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52232698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 485 (V485A)

Ref Sequence

ENSEMBL: ENSMUSP00000142890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089752] [ENSMUST00000149975] [ENSMUST00000200169] [ENSMUST00000226307]

AlphaFold

Q09XV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000089752
AA Change: V485A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087184
Gene: ENSMUSG00000053754
AA Change: V485A

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

SMART Domains

Protein: ENSMUSP00000122995
Gene: ENSMUSG00000053754
AA Change: V220A

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 damaging
Transcript: ENSMUST00000200169
AA Change: V485A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142890
Gene: ENSMUSG00000053754
AA Change: V485A

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 benign
Transcript: ENSMUST00000226307

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,671,206 (GRCm38)	C275S	possibly damaging	Het
Bltp1	A	G	3: 37,048,146 (GRCm38)	E1331G	probably damaging	Het
Cdk12	T	A	11: 98,204,292 (GRCm38)	S309T	probably benign	Het
Cep295nl	T	C	11: 118,333,599 (GRCm38)	R140G	probably damaging	Het
Chn2	A	G	6: 54,300,218 (GRCm38)	I279V	probably damaging	Het
Cux2	A	G	5: 121,865,978 (GRCm38)	S1032P	probably damaging	Het
Ddx55	T	A	5: 124,554,565 (GRCm38)	M44K	probably damaging	Het
Dpyd	T	A	3: 118,781,943 (GRCm38)	H143Q	probably benign	Het
Fbxo10	A	G	4: 45,058,934 (GRCm38)	W268R	probably damaging	Het
Gmfg	A	G	7: 28,446,394 (GRCm38)	D86G	probably benign	Het
Gpd1	T	C	15: 99,722,140 (GRCm38)	V273A	possibly damaging	Het
Grhpr	T	C	4: 44,985,393 (GRCm38)	I158T	probably damaging	Het
Itpr2	A	G	6: 146,476,693 (GRCm38)	F53L	possibly damaging	Het
Kctd21	A	G	7: 97,347,970 (GRCm38)	I217V	probably benign	Het
Lrfn2	A	G	17: 49,096,690 (GRCm38)	T614A	probably benign	Het
Lrrc7	T	A	3: 158,175,326 (GRCm38)	D491V	probably benign	Het
Myo7b	T	C	18: 31,983,919 (GRCm38)	E916G	probably damaging	Het
Nf1	C	T	11: 79,564,899 (GRCm38)	T550I	probably damaging	Het
Nsd1	A	G	13: 55,312,334 (GRCm38)	T2125A	probably benign	Het
Olfml2b	A	G	1: 170,662,426 (GRCm38)	E205G	probably benign	Het
Or8k37	A	T	2: 86,638,806 (GRCm38)	L301I	probably benign	Het
Papolb	T	C	5: 142,529,217 (GRCm38)	T224A	possibly damaging	Het
Pcnx2	T	C	8: 125,818,756 (GRCm38)	E1172G	probably damaging	Het
Ppip5k2	A	G	1: 97,747,592 (GRCm38)	L362S	possibly damaging	Het
Ppp1r9b	T	A	11: 94,996,612 (GRCm38)	Y59*	probably null	Het
Pramel12	T	C	4: 143,416,781 (GRCm38)	L39P	probably damaging	Het
Rapgef5	T	A	12: 117,688,611 (GRCm38)	S76R	probably benign	Het
Rnh1	A	T	7: 141,163,408 (GRCm38)	V218D	probably damaging	Het
Robo4	CGG	CG	9: 37,411,490 (GRCm38)		probably null	Het
Slc4a7	G	T	14: 14,786,310 (GRCm38)	V999L	probably benign	Het
Slco4c1	A	T	1: 96,842,529 (GRCm38)	I270N	probably damaging	Het
Tdp1	A	G	12: 99,915,506 (GRCm38)	Y498C	probably damaging	Het
Tfip11	A	G	5: 112,335,668 (GRCm38)	S650G	probably benign	Het
Ttn	T	C	2: 76,778,294 (GRCm38)	T17793A	possibly damaging	Het
Ulk2	T	C	11: 61,783,613 (GRCm38)	T856A	probably benign	Het
Vps13d	C	T	4: 145,065,889 (GRCm38)	G3726E	probably damaging	Het

Other mutations in Chd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Chd8	APN	14	52,226,138 (GRCm38)	missense	probably damaging	0.99
IGL00694:Chd8	APN	14	52,217,970 (GRCm38)	missense	probably damaging	1.00
IGL01011:Chd8	APN	14	52,231,532 (GRCm38)	missense	possibly damaging	0.86
IGL01022:Chd8	APN	14	52,236,993 (GRCm38)	missense	probably benign
IGL01066:Chd8	APN	14	52,217,766 (GRCm38)	missense	probably damaging	1.00
IGL01083:Chd8	APN	14	52,221,420 (GRCm38)	missense	probably damaging	1.00
IGL01313:Chd8	APN	14	52,210,575 (GRCm38)	missense	probably damaging	1.00
IGL01396:Chd8	APN	14	52,204,587 (GRCm38)	unclassified	probably benign
IGL01476:Chd8	APN	14	52,205,490 (GRCm38)	missense	probably benign	0.32
IGL01731:Chd8	APN	14	52,212,654 (GRCm38)	missense	probably benign	0.12
IGL01895:Chd8	APN	14	52,199,094 (GRCm38)	missense	probably benign	0.00
IGL02090:Chd8	APN	14	52,227,234 (GRCm38)	critical splice donor site	probably null
IGL02344:Chd8	APN	14	52,201,650 (GRCm38)	missense	probably damaging	1.00
IGL02573:Chd8	APN	14	52,219,734 (GRCm38)	missense	possibly damaging	0.95
IGL02601:Chd8	APN	14	52,214,300 (GRCm38)	missense	possibly damaging	0.94
IGL02617:Chd8	APN	14	52,235,191 (GRCm38)	missense	probably benign	0.34
IGL02873:Chd8	APN	14	52,222,513 (GRCm38)	missense	probably damaging	0.99
IGL02974:Chd8	APN	14	52,201,701 (GRCm38)	splice site	probably null
IGL03058:Chd8	APN	14	52,218,273 (GRCm38)	missense	probably damaging	1.00
IGL03076:Chd8	APN	14	52,226,162 (GRCm38)	splice site	probably benign
IGL03239:Chd8	APN	14	52,227,548 (GRCm38)	missense	possibly damaging	0.92
PIT4431001:Chd8	UTSW	14	52,218,249 (GRCm38)	missense	probably damaging	0.98
PIT4468001:Chd8	UTSW	14	52,217,881 (GRCm38)	missense	possibly damaging	0.95
PIT4468001:Chd8	UTSW	14	52,207,996 (GRCm38)	missense	probably benign
R0006:Chd8	UTSW	14	52,235,293 (GRCm38)	missense	possibly damaging	0.51
R0006:Chd8	UTSW	14	52,235,293 (GRCm38)	missense	possibly damaging	0.51
R0022:Chd8	UTSW	14	52,232,855 (GRCm38)	missense	probably benign	0.00
R0115:Chd8	UTSW	14	52,237,206 (GRCm38)	missense	probably benign	0.00
R0131:Chd8	UTSW	14	52,205,326 (GRCm38)	missense	probably benign	0.15
R0131:Chd8	UTSW	14	52,205,326 (GRCm38)	missense	probably benign	0.15
R0132:Chd8	UTSW	14	52,205,326 (GRCm38)	missense	probably benign	0.15
R0419:Chd8	UTSW	14	52,204,060 (GRCm38)	missense	probably benign	0.24
R0440:Chd8	UTSW	14	52,204,826 (GRCm38)	missense	possibly damaging	0.91
R0452:Chd8	UTSW	14	52,214,587 (GRCm38)	missense	probably damaging	1.00
R0481:Chd8	UTSW	14	52,237,206 (GRCm38)	missense	probably benign	0.00
R0624:Chd8	UTSW	14	52,219,757 (GRCm38)	missense	possibly damaging	0.65
R0650:Chd8	UTSW	14	52,202,304 (GRCm38)	missense	probably benign	0.09
R0691:Chd8	UTSW	14	52,213,433 (GRCm38)	missense	probably damaging	0.96
R0790:Chd8	UTSW	14	52,204,025 (GRCm38)	missense	probably benign	0.07
R0835:Chd8	UTSW	14	52,204,025 (GRCm38)	missense	probably benign	0.07
R1180:Chd8	UTSW	14	52,221,108 (GRCm38)	missense	probably damaging	1.00
R1411:Chd8	UTSW	14	52,224,646 (GRCm38)	missense	probably benign
R1725:Chd8	UTSW	14	52,232,573 (GRCm38)	missense	probably benign	0.08
R1838:Chd8	UTSW	14	52,204,883 (GRCm38)	missense	probably benign	0.11
R1839:Chd8	UTSW	14	52,204,883 (GRCm38)	missense	probably benign	0.11
R1968:Chd8	UTSW	14	52,220,993 (GRCm38)	missense	probably damaging	0.98
R2020:Chd8	UTSW	14	52,215,241 (GRCm38)	missense	probably damaging	1.00
R2024:Chd8	UTSW	14	52,231,493 (GRCm38)	missense	probably benign	0.23
R2139:Chd8	UTSW	14	52,236,971 (GRCm38)	missense	probably benign	0.32
R2163:Chd8	UTSW	14	52,198,818 (GRCm38)	missense	possibly damaging	0.53
R2342:Chd8	UTSW	14	52,205,217 (GRCm38)	missense	probably benign	0.25
R2844:Chd8	UTSW	14	52,204,495 (GRCm38)	missense	possibly damaging	0.92
R3500:Chd8	UTSW	14	52,205,653 (GRCm38)	missense	probably benign	0.00
R3861:Chd8	UTSW	14	52,237,121 (GRCm38)	missense	probably benign	0.13
R4154:Chd8	UTSW	14	52,207,211 (GRCm38)	unclassified	probably benign
R4445:Chd8	UTSW	14	52,204,527 (GRCm38)	splice site	probably null
R4628:Chd8	UTSW	14	52,206,915 (GRCm38)	missense	probably benign	0.03
R4779:Chd8	UTSW	14	52,231,506 (GRCm38)	missense	probably damaging	1.00
R4783:Chd8	UTSW	14	52,205,368 (GRCm38)	missense	probably damaging	1.00
R4784:Chd8	UTSW	14	52,205,368 (GRCm38)	missense	probably damaging	1.00
R5001:Chd8	UTSW	14	52,203,915 (GRCm38)	missense	probably benign	0.09
R5280:Chd8	UTSW	14	52,205,125 (GRCm38)	missense	possibly damaging	0.68
R5331:Chd8	UTSW	14	52,202,114 (GRCm38)	intron	probably benign
R5375:Chd8	UTSW	14	52,204,154 (GRCm38)	missense	probably damaging	1.00
R5470:Chd8	UTSW	14	52,212,609 (GRCm38)	missense	probably damaging	1.00
R5479:Chd8	UTSW	14	52,215,195 (GRCm38)	missense	probably benign	0.15
R5488:Chd8	UTSW	14	52,213,048 (GRCm38)	intron	probably benign
R5489:Chd8	UTSW	14	52,213,048 (GRCm38)	intron	probably benign
R5499:Chd8	UTSW	14	52,204,431 (GRCm38)	critical splice donor site	probably null
R5988:Chd8	UTSW	14	52,217,938 (GRCm38)	missense	probably damaging	1.00
R6046:Chd8	UTSW	14	52,221,071 (GRCm38)	missense	possibly damaging	0.60
R6125:Chd8	UTSW	14	52,207,034 (GRCm38)	missense	probably benign	0.16
R6212:Chd8	UTSW	14	52,201,698 (GRCm38)	missense	probably damaging	1.00
R6337:Chd8	UTSW	14	52,204,109 (GRCm38)	missense	probably damaging	1.00
R6394:Chd8	UTSW	14	52,202,585 (GRCm38)	missense	possibly damaging	0.66
R6576:Chd8	UTSW	14	52,216,076 (GRCm38)	missense	probably damaging	1.00
R6590:Chd8	UTSW	14	52,227,237 (GRCm38)	missense	possibly damaging	0.60
R6690:Chd8	UTSW	14	52,227,237 (GRCm38)	missense	possibly damaging	0.60
R6786:Chd8	UTSW	14	52,226,668 (GRCm38)	missense	probably benign	0.33
R6913:Chd8	UTSW	14	52,214,494 (GRCm38)	missense	probably damaging	0.99
R7090:Chd8	UTSW	14	52,215,220 (GRCm38)	missense	probably damaging	0.99
R7107:Chd8	UTSW	14	52,212,672 (GRCm38)	missense	probably benign	0.07
R7138:Chd8	UTSW	14	52,214,498 (GRCm38)	missense	possibly damaging	0.83
R7383:Chd8	UTSW	14	52,215,319 (GRCm38)	missense	probably damaging	1.00
R7392:Chd8	UTSW	14	52,232,855 (GRCm38)	missense	probably benign
R7471:Chd8	UTSW	14	52,204,112 (GRCm38)	missense	probably benign
R7625:Chd8	UTSW	14	52,237,077 (GRCm38)	missense	probably benign	0.04
R7790:Chd8	UTSW	14	52,226,082 (GRCm38)	missense	probably damaging	1.00
R7862:Chd8	UTSW	14	52,214,277 (GRCm38)	missense	probably damaging	1.00
R7937:Chd8	UTSW	14	52,227,506 (GRCm38)	missense	probably benign	0.02
R8092:Chd8	UTSW	14	52,217,727 (GRCm38)	missense	probably damaging	1.00
R8237:Chd8	UTSW	14	52,213,352 (GRCm38)	missense	probably damaging	1.00
R8321:Chd8	UTSW	14	52,232,567 (GRCm38)	missense	probably benign	0.01
R8371:Chd8	UTSW	14	52,232,818 (GRCm38)	missense	probably benign
R8425:Chd8	UTSW	14	52,210,555 (GRCm38)	missense	probably damaging	1.00
R8674:Chd8	UTSW	14	52,213,006 (GRCm38)	missense	probably damaging	0.98
R8794:Chd8	UTSW	14	52,204,447 (GRCm38)	missense	probably damaging	0.98
R8828:Chd8	UTSW	14	52,210,580 (GRCm38)	frame shift	probably null
R8909:Chd8	UTSW	14	52,212,932 (GRCm38)	missense	possibly damaging	0.82
R9194:Chd8	UTSW	14	52,202,193 (GRCm38)	missense	probably benign	0.01
R9278:Chd8	UTSW	14	52,235,170 (GRCm38)	missense	probably benign	0.01
R9489:Chd8	UTSW	14	52,219,598 (GRCm38)	missense	probably damaging	0.98
R9501:Chd8	UTSW	14	52,214,588 (GRCm38)	missense	probably benign	0.04
R9546:Chd8	UTSW	14	52,215,951 (GRCm38)	missense	probably damaging	1.00
R9605:Chd8	UTSW	14	52,219,598 (GRCm38)	missense	probably damaging	0.98
R9694:Chd8	UTSW	14	52,203,884 (GRCm38)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ATCCCGCAGTGTACTGTTCC -3'
(R):5'- TGGTTAAAGTTCTAAGTGCCAGTG -3'

Sequencing Primer
(F):5'- GCAGTGTACTGTTCCCAGCAC -3'
(R):5'- AGTTCTAAGTGCCAGTGAAGTG -3'

Posted On

2016-08-04