Mutagenetix > Incidental Mutation

Incidental Mutation 'R8371:Chd8'

646408

Institutional Source

Beutler Lab

Gene Symbol

Chd8

Ensembl Gene

ENSMUSG00000053754

Gene Name

chromodomain helicase DNA binding protein 8

Synonyms

5830451P18Rik, Duplin

MMRRC Submission

067740-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8371 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52435608-52495237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52470275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 445 (K445R)

Ref Sequence

ENSEMBL: ENSMUSP00000087184 (fasta)

Gene Model

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

AlphaFold

Q09XV5

Predicted Effect

probably benign
Transcript: ENSMUST00000089752
AA Change: K445R

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

SMART Domains

Protein: ENSMUSP00000087184
Gene: ENSMUSG00000053754
AA Change: K445R

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: ENSMUST00000200169
AA Change: K445R

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

SMART Domains

Protein: ENSMUSP00000142890
Gene: ENSMUSG00000053754
AA Change: K445R

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	T	11: 109,945,473 (GRCm39)	Q1050K	probably benign	Het
B4galt5	A	G	2: 167,151,145 (GRCm39)	M121T	probably damaging	Het
Birc2	A	G	9: 7,849,427 (GRCm39)	L549P	probably damaging	Het
Cacna1b	T	C	2: 24,610,036 (GRCm39)	N368S	possibly damaging	Het
Cbr1	A	G	16: 93,406,779 (GRCm39)	E165G	probably damaging	Het
Ccdc178	T	C	18: 21,944,561 (GRCm39)	D866G	possibly damaging	Het
Cd40	G	A	2: 164,908,458 (GRCm39)	G178E	probably damaging	Het
Cers1	T	A	8: 70,782,223 (GRCm39)	L349H	probably benign	Het
Clca3a2	G	T	3: 144,513,114 (GRCm39)	S477*	probably null	Het
Clec4a1	T	A	6: 122,910,882 (GRCm39)	*246R	probably null	Het
CN725425	T	C	15: 91,124,973 (GRCm39)	I171T	probably benign	Het
Crybg3	A	G	16: 59,377,414 (GRCm39)	M1280T	probably benign	Het
Csf1r	A	T	18: 61,250,663 (GRCm39)	Q458L	probably benign	Het
Cyp3a11	A	T	5: 145,805,438 (GRCm39)	V193E	possibly damaging	Het
Cys1	A	G	12: 24,718,694 (GRCm39)	I53T	probably benign	Het
Dhrs3	A	C	4: 144,645,953 (GRCm39)		probably null	Het
Dhx57	T	C	17: 80,582,919 (GRCm39)	R229G	probably benign	Het
Dhx9	T	C	1: 153,331,961 (GRCm39)	N1336D	unknown	Het
Dmgdh	T	A	13: 93,845,238 (GRCm39)	H410Q	probably benign	Het
Dmxl1	T	A	18: 50,031,781 (GRCm39)	M2225K	probably benign	Het
Eif4g3	T	G	4: 137,824,156 (GRCm39)	Y80D	probably damaging	Het
Ephx4	A	T	5: 107,561,384 (GRCm39)	I164F	possibly damaging	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fhl4	G	A	10: 84,934,637 (GRCm39)	A48V	probably benign	Het
Fmn2	T	C	1: 174,437,173 (GRCm39)	L1048S	unknown	Het
Gemin5	T	C	11: 58,017,384 (GRCm39)	M1212V	probably benign	Het
Gm9195	C	T	14: 72,697,899 (GRCm39)	V1294I	probably benign	Het
Gpr55	A	T	1: 85,868,849 (GRCm39)	V244E	probably damaging	Het
Hgfac	T	A	5: 35,202,787 (GRCm39)	F429Y	probably damaging	Het
Jade2	T	A	11: 51,715,959 (GRCm39)	E415D	probably benign	Het
Kcnj4	T	A	15: 79,369,342 (GRCm39)	I213F	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Klhl33	C	T	14: 51,129,689 (GRCm39)	R312Q	probably damaging	Het
Krt82	T	C	15: 101,453,546 (GRCm39)	E280G	probably benign	Het
Lemd1	C	A	1: 132,156,687 (GRCm39)	Q40K	probably damaging	Het
Lmo7	T	C	14: 102,124,444 (GRCm39)	L423P	possibly damaging	Het
Lrp8	A	G	4: 107,726,268 (GRCm39)	Y773C	probably damaging	Het
Miga2	AAGAG	AAG	2: 30,265,755 (GRCm39)		probably null	Het
Mroh8	A	T	2: 157,094,896 (GRCm39)	Y363*	probably null	Het
Or2n1c	G	A	17: 38,519,189 (GRCm39)	A18T	probably benign	Het
Or51a25	C	A	7: 102,372,790 (GRCm39)	K302N	probably damaging	Het
Or5p61	G	A	7: 107,758,435 (GRCm39)	T215I	probably benign	Het
Pcdha2	T	C	18: 37,073,316 (GRCm39)	Y316H	possibly damaging	Het
Pcdha6	T	A	18: 37,102,920 (GRCm39)	C704*	probably null	Het
Pik3c2g	G	A	6: 139,881,782 (GRCm39)	V923M	unknown	Het
Rhd	A	G	4: 134,603,694 (GRCm39)	S72G	probably benign	Het
Rhot1	T	C	11: 80,134,292 (GRCm39)	L295P	probably damaging	Het
Rrp1b	A	G	17: 32,268,458 (GRCm39)	E139G	possibly damaging	Het
Scnn1a	T	G	6: 125,320,806 (GRCm39)	Y620D	possibly damaging	Het
Serpinb12	A	T	1: 106,884,135 (GRCm39)	I294L	probably benign	Het
Serpinb3d	T	C	1: 107,008,469 (GRCm39)	D132G	probably damaging	Het
Slc26a3	A	T	12: 31,502,541 (GRCm39)	D254V	probably damaging	Het
Srrm1	A	T	4: 135,052,532 (GRCm39)	I614N	unknown	Het
Stt3b	A	G	9: 115,095,243 (GRCm39)	Y263H	probably damaging	Het
Taf7	T	A	18: 37,776,552 (GRCm39)	K5I	probably damaging	Het
Tbck	C	A	3: 132,458,285 (GRCm39)	H638Q	possibly damaging	Het
Tnfsf9	A	C	17: 57,412,541 (GRCm39)	D37A	probably benign	Het
Trim71	C	A	9: 114,344,857 (GRCm39)	V354F	probably benign	Het
Tspoap1	T	G	11: 87,669,127 (GRCm39)	C1467G	probably benign	Het
Xirp1	C	T	9: 119,848,499 (GRCm39)	R128Q	possibly damaging	Het
Zc3h12d	GCCC	GCC	10: 7,715,735 (GRCm39)		probably null	Het
Zfhx2	T	C	14: 55,301,549 (GRCm39)	D2145G	probably damaging	Het
Zfy2	T	C	Y: 2,117,168 (GRCm39)	T220A	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
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'- GCAGGAACACTCACTTTAGCTTAC -3'
(R):5'- AGTATCCCTAGCTTTATTTAGGCC -3'

Sequencing Primer
(F):5'- TTTGGAGGCAGCAGCAGTC -3'
(R):5'- GGCCATTTAAATTGCAAACATGTTG -3'

Posted On

2020-09-02