Mutagenetix > Incidental Mutations

Incidental Mutation 'R5988:Chd8'

481861

Institutional Source

Beutler Lab

Gene Symbol

Chd8

Ensembl Gene

ENSMUSG00000053754

Gene Name

chromodomain helicase DNA binding protein 8

Synonyms

Duplin, 5830451P18Rik

MMRRC Submission

044168-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52198151-52257780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52217938 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1031 (M1031V)

Ref Sequence

ENSEMBL: ENSMUSP00000142890 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000089752
AA Change: M1031V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087184
Gene: ENSMUSG00000053754
AA Change: M1031V

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: ENSMUST00000122823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149694

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000155614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180857

Predicted Effect

probably damaging
Transcript: ENSMUST00000200169
AA Change: M1031V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142890
Gene: ENSMUSG00000053754
AA Change: M1031V

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: ENSMUST00000227448

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 95.3%
20x: 84.3%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	A	12: 55,377,217	M441K	probably damaging	Het
Actr8	T	A	14: 29,993,073	M615K	possibly damaging	Het
Acvr1c	A	T	2: 58,315,874	C25S	probably damaging	Het
Adk	A	T	14: 21,423,548	E291V	probably benign	Het
Ahnak	C	A	19: 9,009,347		probably benign	Het
Alg11	A	G	8: 22,062,028	T63A	probably benign	Het
Alox12	A	T	11: 70,251,587	S272T	probably benign	Het
Armc10	T	A	5: 21,660,583	S195T	probably damaging	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Baat	G	A	4: 49,502,871	P84S	probably damaging	Het
BB014433	G	A	8: 15,041,854	T333I	probably damaging	Het
BC035947	G	A	1: 78,499,206	R230*	probably null	Het
Bcr	G	A	10: 75,175,335	G26E	probably benign	Het
Ccdc88b	T	C	19: 6,855,980	E233G	probably damaging	Het
Cep295	A	G	9: 15,341,474	F353L	probably damaging	Het
Col17a1	C	G	19: 47,654,220	G885R	probably damaging	Het
Cyp11a1	A	C	9: 58,020,834	I214L	probably benign	Het
Cyp3a44	A	T	5: 145,794,918	S139R	probably damaging	Het
Ddhd2	G	A	8: 25,748,562	R64C	probably damaging	Het
Dll3	A	G	7: 28,294,112	W561R	probably damaging	Het
Dnajc3	T	C	14: 118,957,964	V97A	possibly damaging	Het
Drosha	C	T	15: 12,834,496		probably benign	Het
E2f8	T	C	7: 48,874,995	D302G	probably damaging	Het
Ecd	C	G	14: 20,324,561	D504H	probably damaging	Het
Eif4g2	C	A	7: 111,077,230	V331L	probably benign	Het
Fam124a	T	C	14: 62,587,537	I160T	possibly damaging	Het
Fat1	A	G	8: 45,029,456	T3051A	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm5039	T	A	12: 88,321,432	N17I	unknown	Het
Gm572	A	G	4: 148,668,507	E281G	possibly damaging	Het
Gm884	T	C	11: 103,615,896		probably benign	Het
Gm9944	T	C	4: 144,453,205		probably benign	Het
Gstm5	A	C	3: 107,895,954	M1L	probably benign	Het
Havcr1	A	G	11: 46,756,137	T133A	probably damaging	Het
Hey1	T	G	3: 8,666,319	S68R	probably damaging	Het
Hsf2bp	C	T	17: 32,011,175		probably null	Het
Id2	T	C	12: 25,095,724	N96S	probably benign	Het
Ifi206	A	C	1: 173,481,340	S363R	possibly damaging	Het
Il21r	T	C	7: 125,632,288	F296S	probably damaging	Het
Irgm2	A	G	11: 58,220,187	T247A	probably benign	Het
Irx5	T	A	8: 92,360,671	Y410*	probably null	Het
Kmt2c	A	G	5: 25,311,120	I2575T	probably benign	Het
Lmbrd2	T	A	15: 9,182,406		probably null	Het
Lrig1	A	C	6: 94,628,042	S191A	probably damaging	Het
Lypd6b	T	A	2: 49,946,166	C120S	probably damaging	Het
Mpdz	A	G	4: 81,284,575		probably null	Het
Myh6	G	T	14: 54,965,394	R23S	probably damaging	Het
Nat8f6	C	T	6: 85,809,058	M36I	probably benign	Het
Nol8	T	A	13: 49,672,614	M970K	possibly damaging	Het
Nrxn2	T	C	19: 6,492,871	F1042L	possibly damaging	Het
Nup160	T	C	2: 90,689,209	W277R	probably damaging	Het
Ogfr	A	T	2: 180,594,233	T204S	probably damaging	Het
Olfr136	T	C	17: 38,336,020	F288L	probably damaging	Het
Olfr16	T	A	1: 172,957,156	Y120*	probably null	Het
Olfr356	A	G	2: 36,937,224	Y35C	probably damaging	Het
Olfr59	T	C	11: 74,288,853	V69A	probably benign	Het
Olfr667	A	T	7: 104,916,918	V126E	probably damaging	Het
Olfr898	T	C	9: 38,349,749	V222A	probably benign	Het
Pcdh15	A	G	10: 74,379,357	I648V	probably benign	Het
Pced1b	T	A	15: 97,384,347	V89E	probably damaging	Het
Phax	G	T	18: 56,575,492	A43S	probably benign	Het
Phf20	A	G	2: 156,307,330	E976G	probably damaging	Het
Plin4	T	C	17: 56,109,567	T8A	probably benign	Het
Plxna1	G	A	6: 89,357,540	Q36*	probably null	Het
Pold1	T	C	7: 44,540,580	Y394C	probably damaging	Het
Ppp1r26	T	A	2: 28,452,554	V732E	probably benign	Het
Pramel5	A	T	4: 144,273,146	C124S	possibly damaging	Het
Prr14l	C	A	5: 32,830,851	L433F	probably damaging	Het
Ptpn14	A	G	1: 189,850,387	Y477C	probably damaging	Het
Rcl1	T	A	19: 29,121,767	I154N	probably damaging	Het
Rfpl4	T	C	7: 5,115,502	Y23C	probably damaging	Het
Rims1	T	C	1: 22,596,463	K146E	probably damaging	Het
Rims2	A	T	15: 39,292,182	K126M	probably damaging	Het
Rpusd4	T	A	9: 35,272,520		probably null	Het
Scn7a	C	T	2: 66,726,214	W342*	probably null	Het
Sh3pxd2a	A	G	19: 47,364,638	V128A	probably benign	Het
Slc15a5	T	C	6: 138,043,531	H268R	probably benign	Het
Slc22a3	T	C	17: 12,433,895	I321V	possibly damaging	Het
Slc7a6os	A	G	8: 106,202,333	S231P	probably benign	Het
Smad5	T	C	13: 56,735,985	S395P	probably damaging	Het
Sorbs3	G	A	14: 70,203,303	T20I	probably benign	Het
Spata9	A	G	13: 75,968,117	I42V	probably benign	Het
Srl	C	T	16: 4,523,028	C9Y	unknown	Het
Sugp2	T	C	8: 70,243,225	F283L	probably benign	Het
Syne2	T	C	12: 75,929,417		probably null	Het
Taar6	A	G	10: 23,985,256	Y131H	probably damaging	Het
Tango2	T	C	16: 18,302,690	T137A	probably damaging	Het
Tas2r106	T	A	6: 131,678,643	I82L	probably benign	Het
Tbc1d32	T	C	10: 56,088,337	E922G	probably damaging	Het
Tgfb2	G	T	1: 186,704,581	P65Q	probably benign	Het
Tjp2	T	G	19: 24,114,100	I566L	probably benign	Het
Tnrc6a	T	A	7: 123,182,380	N1424K	probably damaging	Het
Trim7	A	T	11: 48,837,686	M54L	probably benign	Het
Trpm1	T	A	7: 64,226,805	S535R	probably benign	Het
Tsc2	T	A	17: 24,620,766	N417I	probably damaging	Het
Ttn	T	C	2: 76,969,788	R359G	probably benign	Het
Vim	A	G	2: 13,582,485	T458A	probably benign	Het
Vps11	A	T	9: 44,353,924	S612R	probably benign	Het
Wdfy3	A	G	5: 101,884,138	S2273P	probably benign	Het
Wwox	G	T	8: 114,706,341	R249L	probably benign	Het
Zbtb4	G	T	11: 69,778,964	G838C	probably damaging	Het
Zkscan3	A	T	13: 21,396,291	C76S	probably damaging	Het
Znrf3	C	T	11: 5,281,776	C483Y	probably damaging	Het
Zscan2	A	G	7: 80,876,199	K556R	possibly damaging	Het

Other mutations in Chd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Chd8	APN	14	52226138	missense	probably damaging	0.99
IGL00694:Chd8	APN	14	52217970	missense	probably damaging	1.00
IGL01011:Chd8	APN	14	52231532	missense	possibly damaging	0.86
IGL01022:Chd8	APN	14	52236993	missense	probably benign
IGL01066:Chd8	APN	14	52217766	missense	probably damaging	1.00
IGL01083:Chd8	APN	14	52221420	missense	probably damaging	1.00
IGL01313:Chd8	APN	14	52210575	missense	probably damaging	1.00
IGL01396:Chd8	APN	14	52204587	unclassified	probably benign
IGL01476:Chd8	APN	14	52205490	missense	probably benign	0.32
IGL01731:Chd8	APN	14	52212654	missense	probably benign	0.12
IGL01895:Chd8	APN	14	52199094	missense	probably benign	0.00
IGL02090:Chd8	APN	14	52227234	critical splice donor site	probably null
IGL02344:Chd8	APN	14	52201650	missense	probably damaging	1.00
IGL02573:Chd8	APN	14	52219734	missense	possibly damaging	0.95
IGL02601:Chd8	APN	14	52214300	missense	possibly damaging	0.94
IGL02617:Chd8	APN	14	52235191	missense	probably benign	0.34
IGL02873:Chd8	APN	14	52222513	missense	probably damaging	0.99
IGL02974:Chd8	APN	14	52201701	unclassified	probably null
IGL03058:Chd8	APN	14	52218273	missense	probably damaging	1.00
IGL03076:Chd8	APN	14	52226162	splice site	probably benign
IGL03239:Chd8	APN	14	52227548	missense	possibly damaging	0.92
PIT4431001:Chd8	UTSW	14	52218249	missense	probably damaging	0.98
PIT4468001:Chd8	UTSW	14	52207996	missense	probably benign
PIT4468001:Chd8	UTSW	14	52217881	missense	possibly damaging	0.95
R0006:Chd8	UTSW	14	52235293	missense	possibly damaging	0.51
R0006:Chd8	UTSW	14	52235293	missense	possibly damaging	0.51
R0022:Chd8	UTSW	14	52232855	missense	probably benign	0.00
R0115:Chd8	UTSW	14	52237206	missense	probably benign	0.00
R0131:Chd8	UTSW	14	52205326	missense	probably benign	0.15
R0131:Chd8	UTSW	14	52205326	missense	probably benign	0.15
R0132:Chd8	UTSW	14	52205326	missense	probably benign	0.15
R0419:Chd8	UTSW	14	52204060	missense	probably benign	0.24
R0440:Chd8	UTSW	14	52204826	missense	possibly damaging	0.91
R0452:Chd8	UTSW	14	52214587	missense	probably damaging	1.00
R0481:Chd8	UTSW	14	52237206	missense	probably benign	0.00
R0624:Chd8	UTSW	14	52219757	missense	possibly damaging	0.65
R0650:Chd8	UTSW	14	52202304	missense	probably benign	0.09
R0691:Chd8	UTSW	14	52213433	missense	probably damaging	0.96
R0790:Chd8	UTSW	14	52204025	missense	probably benign	0.07
R0835:Chd8	UTSW	14	52204025	missense	probably benign	0.07
R1180:Chd8	UTSW	14	52221108	missense	probably damaging	1.00
R1411:Chd8	UTSW	14	52224646	missense	probably benign
R1725:Chd8	UTSW	14	52232573	missense	probably benign	0.08
R1838:Chd8	UTSW	14	52204883	missense	probably benign	0.11
R1839:Chd8	UTSW	14	52204883	missense	probably benign	0.11
R1968:Chd8	UTSW	14	52220993	missense	probably damaging	0.98
R2020:Chd8	UTSW	14	52215241	missense	probably damaging	1.00
R2024:Chd8	UTSW	14	52231493	missense	probably benign	0.23
R2139:Chd8	UTSW	14	52236971	missense	probably benign	0.32
R2163:Chd8	UTSW	14	52198818	missense	possibly damaging	0.53
R2342:Chd8	UTSW	14	52205217	missense	probably benign	0.25
R2844:Chd8	UTSW	14	52204495	missense	possibly damaging	0.92
R3500:Chd8	UTSW	14	52205653	missense	probably benign	0.00
R3861:Chd8	UTSW	14	52237121	missense	probably benign	0.13
R4154:Chd8	UTSW	14	52207211	unclassified	probably benign
R4445:Chd8	UTSW	14	52204527	unclassified	probably null
R4628:Chd8	UTSW	14	52206915	missense	probably benign	0.03
R4779:Chd8	UTSW	14	52231506	missense	probably damaging	1.00
R4783:Chd8	UTSW	14	52205368	missense	probably damaging	1.00
R4784:Chd8	UTSW	14	52205368	missense	probably damaging	1.00
R5001:Chd8	UTSW	14	52203915	missense	probably benign	0.09
R5280:Chd8	UTSW	14	52205125	missense	possibly damaging	0.68
R5331:Chd8	UTSW	14	52202114	intron	probably benign
R5348:Chd8	UTSW	14	52232698	missense	probably damaging	1.00
R5375:Chd8	UTSW	14	52204154	missense	probably damaging	1.00
R5470:Chd8	UTSW	14	52212609	missense	probably damaging	1.00
R5479:Chd8	UTSW	14	52215195	missense	probably benign	0.15
R5488:Chd8	UTSW	14	52213048	intron	probably benign
R5489:Chd8	UTSW	14	52213048	intron	probably benign
R5499:Chd8	UTSW	14	52204431	critical splice donor site	probably null
R6046:Chd8	UTSW	14	52221071	missense	possibly damaging	0.60
R6125:Chd8	UTSW	14	52207034	missense	probably benign	0.16
R6212:Chd8	UTSW	14	52201698	missense	probably damaging	1.00
R6337:Chd8	UTSW	14	52204109	missense	probably damaging	1.00
R6394:Chd8	UTSW	14	52202585	missense	possibly damaging	0.66
R6576:Chd8	UTSW	14	52216076	missense	probably damaging	1.00
R6590:Chd8	UTSW	14	52227237	missense	possibly damaging	0.60
R6690:Chd8	UTSW	14	52227237	missense	possibly damaging	0.60
R6786:Chd8	UTSW	14	52226668	missense	probably benign	0.33
R6913:Chd8	UTSW	14	52214494	missense	probably damaging	0.99
R7090:Chd8	UTSW	14	52215220	missense	probably damaging	0.99
R7107:Chd8	UTSW	14	52212672	missense	probably benign	0.07
R7138:Chd8	UTSW	14	52214498	missense	possibly damaging	0.83
R7383:Chd8	UTSW	14	52215319	missense	probably damaging	1.00
R7392:Chd8	UTSW	14	52232855	missense	probably benign
R7471:Chd8	UTSW	14	52204112	missense	probably benign
R7625:Chd8	UTSW	14	52237077	missense	probably benign	0.04
R7790:Chd8	UTSW	14	52226082	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATTGATGAGGTACGGGTG -3'
(R):5'- AGGTTTTGCCCATATCACTTGTG -3'

Sequencing Primer
(F):5'- GATTGCAGCACTTTCGTAGC -3'
(R):5'- GATACAATGTAAAGTGAGT -3'

Posted On

2017-06-26