Mutagenetix > Incidental Mutation

Incidental Mutation 'R8425:Chd8'

653441

Institutional Source

Beutler Lab

Gene Symbol

Chd8

Ensembl Gene

ENSMUSG00000053754

Gene Name

chromodomain helicase DNA binding protein 8

Synonyms

5830451P18Rik, Duplin

MMRRC Submission

067819-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52435608-52495237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52448012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 1663 (G1663D)

Ref Sequence

ENSEMBL: ENSMUSP00000087184 (fasta)

Gene Model

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

AlphaFold

Q09XV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000089752
AA Change: G1663D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087184
Gene: ENSMUSG00000053754
AA Change: G1663D

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: G323D

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: G1663D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142890
Gene: ENSMUSG00000053754
AA Change: G1663D

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: 98.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,324,745 (GRCm39)	E92G	possibly damaging	Het
Aasdh	A	T	5: 77,034,124 (GRCm39)	Y476N	possibly damaging	Het
Abca13	G	T	11: 9,264,623 (GRCm39)	V3002F	possibly damaging	Het
Adam23	C	T	1: 63,624,536 (GRCm39)	T788I	probably damaging	Het
Adgrb2	A	G	4: 129,898,850 (GRCm39)	T282A	possibly damaging	Het
Adgrg1	T	C	8: 95,735,035 (GRCm39)	Y402H	probably damaging	Het
Agpat2	A	T	2: 26,483,666 (GRCm39)	L257Q	probably benign	Het
Agpat3	A	T	10: 78,118,211 (GRCm39)	V255E	possibly damaging	Het
Akap6	A	G	12: 52,933,404 (GRCm39)	I299V	probably benign	Het
Anapc1	A	T	2: 128,511,788 (GRCm39)	F468L	probably damaging	Het
Apob	T	A	12: 8,038,842 (GRCm39)	N431K	possibly damaging	Het
Asprv1	T	A	6: 86,605,851 (GRCm39)	D232E	probably benign	Het
AW209491	A	G	13: 14,811,921 (GRCm39)	Y258C	probably damaging	Het
Bach2	C	T	4: 32,562,316 (GRCm39)	P261L	probably benign	Het
Cap2	T	A	13: 46,763,208 (GRCm39)	I146K	probably damaging	Het
Catsperb	A	T	12: 101,569,028 (GRCm39)	Q900L	probably benign	Het
Ccdc187	A	T	2: 26,171,548 (GRCm39)	V310D	probably damaging	Het
Cenpe	G	T	3: 134,948,388 (GRCm39)	G1275*	probably null	Het
Col6a5	T	A	9: 105,823,156 (GRCm39)	Y67F	unknown	Het
Cuzd1	G	T	7: 130,919,720 (GRCm39)	T132K	possibly damaging	Het
Ddr2	T	A	1: 169,863,585 (GRCm39)		probably benign	Het
Ddx42	T	C	11: 106,138,550 (GRCm39)	I783T	probably benign	Het
Dennd4a	T	A	9: 64,746,256 (GRCm39)	D47E	probably damaging	Het
Dvl2	T	G	11: 69,898,673 (GRCm39)	W379G	probably damaging	Het
Ehbp1	A	G	11: 21,963,495 (GRCm39)	L1160P	probably damaging	Het
Eml6	A	G	11: 29,705,008 (GRCm39)	V1512A	probably benign	Het
Ephb6	T	C	6: 41,595,580 (GRCm39)	S780P	probably damaging	Het
Exo5	G	A	4: 120,779,560 (GRCm39)	L102F	probably benign	Het
Fam220a	A	T	5: 143,548,594 (GRCm39)	K2M	possibly damaging	Het
Fanci	A	T	7: 79,083,289 (GRCm39)	I731L	probably benign	Het
Gbp8	A	G	5: 105,165,640 (GRCm39)	S338P	probably damaging	Het
H2-M11	T	C	17: 36,859,649 (GRCm39)	I214T	probably benign	Het
Hhatl	C	A	9: 121,618,168 (GRCm39)	A196S	probably benign	Het
Hspg2	C	A	4: 137,278,178 (GRCm39)	C2988*	probably null	Het
Ifi213	A	G	1: 173,417,426 (GRCm39)	S329P	probably benign	Het
Lingo3	G	T	10: 80,670,816 (GRCm39)	F371L	probably benign	Het
Maml2	C	T	9: 13,531,413 (GRCm39)	T209I		Het
Ndufaf3	T	C	9: 108,444,182 (GRCm39)		probably benign	Het
Nfatc2	C	T	2: 168,378,216 (GRCm39)	G483E	probably damaging	Het
Npy6r	A	C	18: 44,409,070 (GRCm39)	T164P	probably benign	Het
Omg	T	C	11: 79,392,826 (GRCm39)	E344G	possibly damaging	Het
Or2g25	T	A	17: 37,970,975 (GRCm39)	N83I	probably damaging	Het
Or2h15	T	C	17: 38,441,927 (GRCm39)	D52G	possibly damaging	Het
Or4c116	T	A	2: 88,942,737 (GRCm39)	N40Y	probably damaging	Het
Or52n20	A	G	7: 104,320,502 (GRCm39)	N198D	probably damaging	Het
Or5k1	A	G	16: 58,617,966 (GRCm39)	M81T	probably benign	Het
Or9i1	T	C	19: 13,839,849 (GRCm39)	S231P	probably benign	Het
P2rx7	A	G	5: 122,808,521 (GRCm39)	E301G	probably damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pkhd1l1	T	C	15: 44,437,911 (GRCm39)	S3569P	probably benign	Het
Pkn3	G	A	2: 29,976,513 (GRCm39)		probably null	Het
Proc	C	T	18: 32,256,411 (GRCm39)	V419M	probably damaging	Het
Prss37	C	T	6: 40,493,052 (GRCm39)	W138*	probably null	Het
Prss52	T	A	14: 64,350,009 (GRCm39)	L212*	probably null	Het
Rnps1	A	G	17: 24,637,143 (GRCm39)	K8E	unknown	Het
Rpf2	A	T	10: 40,101,429 (GRCm39)	L202*	probably null	Het
Saraf	C	T	8: 34,632,602 (GRCm39)	P227L	probably benign	Het
Serpinb5	T	A	1: 106,809,515 (GRCm39)	M307K	possibly damaging	Het
Slc46a1	T	C	11: 78,359,471 (GRCm39)	S368P	possibly damaging	Het
Slc49a4	A	T	16: 35,555,967 (GRCm39)	N164K	probably benign	Het
Slfn8	T	A	11: 82,895,441 (GRCm39)	Q455L	possibly damaging	Het
Sv2b	A	G	7: 74,767,347 (GRCm39)	M683T	probably damaging	Het
Tacc3	G	T	5: 33,821,874 (GRCm39)	L211F	unknown	Het
Tbc1d8	A	G	1: 39,420,490 (GRCm39)	V681A	probably damaging	Het
Tbkbp1	T	C	11: 97,029,677 (GRCm39)	E493G	unknown	Het
Th	A	T	7: 142,447,823 (GRCm39)	V420E	possibly damaging	Het
Tmem132c	T	G	5: 127,641,421 (GRCm39)	V115G		Het
Usp40	G	A	1: 87,887,558 (GRCm39)	R915C	probably benign	Het
Wdr81	T	A	11: 75,342,348 (GRCm39)	H973L	possibly damaging	Het
Zdhhc6	A	G	19: 55,302,876 (GRCm39)	S42P	probably benign	Het
Zfp369	T	A	13: 65,444,489 (GRCm39)	I544N	possibly 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
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
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'- TTGAGGAAGAATTTATCACACAGAG -3'
(R):5'- TTTATTATGAGCAAGGTAGCCCAT -3'

Sequencing Primer
(F):5'- CTCAGGATGCAGAGTACGTAATCTC -3'
(R):5'- GGTAGCCCATATAATCTAATGGCTC -3'

Posted On

2020-10-20