Mutagenetix > Incidental Mutation

Incidental Mutation 'R8867:Chd6'

675987

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

5430439G14Rik, 6330406J24Rik

MMRRC Submission

068682-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.745) question?

Stock #

R8867 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160788898-160950995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 160862989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 444 (A444V)

Ref Sequence

ENSEMBL: ENSMUSP00000042291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039782] [ENSMUST00000134178]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039782
AA Change: A444V

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: A444V

Domain	Start	End	E-Value	Type
low complexity region	86	106	N/A	INTRINSIC
low complexity region	113	143	N/A	INTRINSIC
low complexity region	214	229	N/A	INTRINSIC
CHROMO	289	355	1.35e-4	SMART
CHROMO	372	430	3.48e-7	SMART
DEXDc	456	658	1.73e-39	SMART
HELICc	812	896	3.84e-23	SMART
low complexity region	1080	1094	N/A	INTRINSIC
Blast:DEXDc	1108	1153	4e-23	BLAST
SANT	1445	1504	1.51e0	SMART
low complexity region	1866	1875	N/A	INTRINSIC
low complexity region	2048	2057	N/A	INTRINSIC
low complexity region	2130	2140	N/A	INTRINSIC
low complexity region	2277	2290	N/A	INTRINSIC
low complexity region	2333	2349	N/A	INTRINSIC
low complexity region	2437	2446	N/A	INTRINSIC
low complexity region	2539	2563	N/A	INTRINSIC
low complexity region	2652	2659	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123240
Gene: ENSMUSG00000057133
AA Change: A443V

Domain	Start	End	E-Value	Type
low complexity region	86	106	N/A	INTRINSIC
low complexity region	113	143	N/A	INTRINSIC
low complexity region	213	228	N/A	INTRINSIC
CHROMO	288	354	1.35e-4	SMART
CHROMO	371	429	3.48e-7	SMART
DEXDc	455	657	1.73e-39	SMART
HELICc	811	895	3.84e-23	SMART
low complexity region	1079	1093	N/A	INTRINSIC
Blast:DEXDc	1107	1152	4e-23	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: This gene encodes a member of the chromodomain/helicase/DNA-binding domain family of chromatin remodeling enzymes. This protein has been found to be specifically involved in transcription initiation and elongation. Homozygous knockout mice exhibit impaired motor coordination. A pseudogene has been identified on chromosome 8. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous null mice display impaired coordination that is not due to muscle weakness or bradykinesia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	G	A	4: 73,861,087 (GRCm39)	S171F	probably damaging	Het
A130010J15Rik	T	C	1: 192,857,406 (GRCm39)	S253P	probably damaging	Het
Acbd5	T	C	2: 22,970,370 (GRCm39)	M97T	possibly damaging	Het
Aire	T	C	10: 77,873,809 (GRCm39)	E300G	probably damaging	Het
Ano1	A	G	7: 144,223,397 (GRCm39)	S99P	possibly damaging	Het
Ap5z1	A	G	5: 142,463,011 (GRCm39)	N732D	probably benign	Het
Apcs	A	T	1: 172,722,004 (GRCm39)	L114Q	possibly damaging	Het
Apmap	T	C	2: 150,431,886 (GRCm39)		probably benign	Het
Ark2c	T	C	18: 77,563,182 (GRCm39)	E159G	possibly damaging	Het
Asxl3	C	A	18: 22,649,547 (GRCm39)	T512N	possibly damaging	Het
Atp1a4	T	C	1: 172,072,491 (GRCm39)	T388A	probably damaging	Het
B3galt9	A	G	2: 34,728,636 (GRCm39)	D145G	probably damaging	Het
Bcl2a1a	A	T	9: 88,839,503 (GRCm39)	I134L	probably damaging	Het
Cmbl	C	A	15: 31,582,073 (GRCm39)	H23Q	probably benign	Het
Cnnm2	T	A	19: 46,750,996 (GRCm39)	I262N	probably damaging	Het
Col6a3	C	T	1: 90,715,673 (GRCm39)	R2260H	unknown	Het
Cracr2a	T	A	6: 127,606,736 (GRCm39)	L260*	probably null	Het
Csmd2	A	G	4: 128,451,469 (GRCm39)	Y3409C		Het
Cyp4b1	C	T	4: 115,493,169 (GRCm39)	R225H	possibly damaging	Het
Dcdc2a	C	T	13: 25,386,266 (GRCm39)	A380V	probably benign	Het
Dnah6	A	G	6: 72,998,131 (GRCm39)	L4097P	probably damaging	Het
Dppa3	G	A	6: 122,605,602 (GRCm39)	R52Q	probably benign	Het
Fbxo31	C	T	8: 122,281,967 (GRCm39)	R311H	probably benign	Het
Fhad1	T	C	4: 141,656,885 (GRCm39)	R90G	probably damaging	Het
Fitm2	A	T	2: 163,311,602 (GRCm39)	W204R	possibly damaging	Het
Gatb	T	A	3: 85,511,716 (GRCm39)	L157H	probably damaging	Het
Gm5111	G	A	6: 48,566,629 (GRCm39)		probably null	Het
Gm7298	A	C	6: 121,748,788 (GRCm39)	I688L	probably benign	Het
Hecw1	T	C	13: 14,422,275 (GRCm39)		probably null	Het
Ift122	T	A	6: 115,857,632 (GRCm39)	V126E	probably damaging	Het
Iqcf6	A	T	9: 106,504,698 (GRCm39)	I121F	possibly damaging	Het
Kif21a	A	G	15: 90,852,382 (GRCm39)	V902A	probably damaging	Het
Klhl38	T	C	15: 58,178,435 (GRCm39)	M512V	probably benign	Het
Klk1b1	A	C	7: 43,619,747 (GRCm39)	N102T	probably damaging	Het
Lama4	T	A	10: 38,923,996 (GRCm39)	L468Q	probably damaging	Het
Lilra5	A	T	7: 4,241,165 (GRCm39)	Q34L	possibly damaging	Het
Lrrc7	T	A	3: 157,867,521 (GRCm39)	D740V	probably damaging	Het
Mapk7	G	T	11: 61,384,632 (GRCm39)	P25T	probably benign	Het
Mcm3ap	C	A	10: 76,306,538 (GRCm39)	A217D	probably benign	Het
Mucl3	A	T	17: 35,948,872 (GRCm39)	F242L	probably benign	Het
Ncaph2	A	G	15: 89,254,605 (GRCm39)	E406G	probably benign	Het
Ncor2	T	C	5: 125,179,739 (GRCm39)	I69V	unknown	Het
Nfatc3	A	G	8: 106,805,640 (GRCm39)	S170G	probably damaging	Het
Nptn	G	A	9: 58,526,264 (GRCm39)	R137Q	probably damaging	Het
Nsd1	A	T	13: 55,430,570 (GRCm39)	K1581N	probably damaging	Het
Or1q1	T	C	2: 36,887,691 (GRCm39)	Y290H	probably damaging	Het
Or2t43	A	G	11: 58,457,562 (GRCm39)	L203P	probably damaging	Het
Or51l4	G	A	7: 103,403,893 (GRCm39)	Q300*	probably null	Het
Or52ab2	T	A	7: 102,970,449 (GRCm39)	L277Q		Het
Or5be3	G	T	2: 86,863,803 (GRCm39)	T254K	probably damaging	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Pdcl	T	C	2: 37,242,348 (GRCm39)	E134G	probably damaging	Het
Pikfyve	T	A	1: 65,283,576 (GRCm39)	Y738N	probably damaging	Het
Pkd1	A	G	17: 24,792,807 (GRCm39)	D1498G	probably damaging	Het
Plxna1	T	C	6: 89,310,079 (GRCm39)	N1029D	probably benign	Het
Ppp3cb	C	A	14: 20,596,517 (GRCm39)		probably benign	Het
Prkn	A	G	17: 11,456,448 (GRCm39)	T91A	probably benign	Het
Rgs18	T	A	1: 144,629,698 (GRCm39)	D187V	probably damaging	Het
Ripor2	C	T	13: 24,822,760 (GRCm39)		probably benign	Het
Rpl3l	G	A	17: 24,954,455 (GRCm39)	G172D	probably damaging	Het
Sdf4	A	G	4: 156,093,759 (GRCm39)	T298A	probably damaging	Het
Skic3	C	T	13: 76,279,428 (GRCm39)	S620L	probably damaging	Het
Slc17a3	T	C	13: 24,039,943 (GRCm39)	V327A		Het
Slc4a1ap	T	A	5: 31,708,059 (GRCm39)	F677L	probably benign	Het
Stoml2	A	G	4: 43,028,256 (GRCm39)	V324A	probably benign	Het
Syne2	A	G	12: 75,989,620 (GRCm39)	Q1833R	probably damaging	Het
Syt6	A	G	3: 103,534,371 (GRCm39)	N481D	possibly damaging	Het
Tert	T	C	13: 73,776,566 (GRCm39)	M439T	probably benign	Het
Thsd7a	A	T	6: 12,338,686 (GRCm39)	D1181E		Het
Tln2	G	A	9: 67,237,832 (GRCm39)	T33I	probably damaging	Het
Top3a	A	G	11: 60,633,481 (GRCm39)	S872P	probably benign	Het
Trim10	T	C	17: 37,181,048 (GRCm39)	L93P	probably benign	Het
Trpc7	C	T	13: 57,008,746 (GRCm39)	S307N	probably benign	Het
Ttn	A	T	2: 76,640,427 (GRCm39)	V13727E	probably damaging	Het
Vmn1r220	T	C	13: 23,368,271 (GRCm39)	S142G	probably benign	Het
Vmn1r32	A	G	6: 66,530,651 (GRCm39)	S42P	probably damaging	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp683	C	T	4: 133,785,995 (GRCm39)	T374I	probably damaging	Het

Other mutations in Chd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Chd6	APN	2	160,883,999 (GRCm39)	missense	probably benign	0.01
IGL00899:Chd6	APN	2	160,871,218 (GRCm39)	splice site	probably benign
IGL01104:Chd6	APN	2	160,803,847 (GRCm39)	missense	probably damaging	1.00
IGL01295:Chd6	APN	2	160,830,290 (GRCm39)	splice site	probably benign
IGL01717:Chd6	APN	2	160,807,179 (GRCm39)	missense	possibly damaging	0.96
IGL01795:Chd6	APN	2	160,803,294 (GRCm39)	missense	probably benign	0.00
IGL01814:Chd6	APN	2	160,901,849 (GRCm39)	missense	probably benign	0.25
IGL02016:Chd6	APN	2	160,825,598 (GRCm39)	missense	probably damaging	1.00
IGL02104:Chd6	APN	2	160,819,432 (GRCm39)	missense	probably benign
IGL02158:Chd6	APN	2	160,868,212 (GRCm39)	missense	possibly damaging	0.73
IGL02313:Chd6	APN	2	160,807,595 (GRCm39)	missense	probably damaging	1.00
IGL02472:Chd6	APN	2	160,826,372 (GRCm39)	splice site	probably benign
IGL02522:Chd6	APN	2	160,807,716 (GRCm39)	missense	probably benign	0.30
IGL02626:Chd6	APN	2	160,881,270 (GRCm39)	splice site	probably benign
IGL02727:Chd6	APN	2	160,811,383 (GRCm39)	missense	probably damaging	0.96
IGL02738:Chd6	APN	2	160,807,618 (GRCm39)	missense	probably benign	0.45
IGL02743:Chd6	APN	2	160,802,183 (GRCm39)	missense	probably damaging	1.00
IGL02800:Chd6	APN	2	160,826,552 (GRCm39)	missense	probably damaging	1.00
IGL02811:Chd6	APN	2	160,832,221 (GRCm39)	missense	probably damaging	1.00
IGL02850:Chd6	APN	2	160,861,536 (GRCm39)	nonsense	probably null
IGL02979:Chd6	APN	2	160,808,090 (GRCm39)	missense	possibly damaging	0.48
IGL02993:Chd6	APN	2	160,894,304 (GRCm39)	splice site	probably benign
IGL03277:Chd6	APN	2	160,824,981 (GRCm39)	missense	probably null	1.00
IGL03346:Chd6	APN	2	160,802,282 (GRCm39)	missense	probably benign	0.00
IGL03357:Chd6	APN	2	160,859,936 (GRCm39)	splice site	probably benign
IGL03134:Chd6	UTSW	2	160,807,403 (GRCm39)	missense	possibly damaging	0.88
R0106:Chd6	UTSW	2	160,809,822 (GRCm39)	missense	probably damaging	1.00
R0106:Chd6	UTSW	2	160,809,822 (GRCm39)	missense	probably damaging	1.00
R0212:Chd6	UTSW	2	160,894,767 (GRCm39)	missense	probably damaging	0.99
R0363:Chd6	UTSW	2	160,856,244 (GRCm39)	missense	probably damaging	1.00
R0399:Chd6	UTSW	2	160,894,608 (GRCm39)	missense	probably damaging	1.00
R0511:Chd6	UTSW	2	160,834,111 (GRCm39)	missense	probably damaging	0.99
R0771:Chd6	UTSW	2	160,861,500 (GRCm39)	missense	probably damaging	1.00
R1147:Chd6	UTSW	2	160,832,191 (GRCm39)	missense	probably damaging	1.00
R1147:Chd6	UTSW	2	160,832,191 (GRCm39)	missense	probably damaging	1.00
R1184:Chd6	UTSW	2	160,872,722 (GRCm39)	missense	probably damaging	1.00
R1277:Chd6	UTSW	2	160,809,735 (GRCm39)	missense	probably damaging	1.00
R1396:Chd6	UTSW	2	160,825,023 (GRCm39)	missense	probably damaging	1.00
R1647:Chd6	UTSW	2	160,883,978 (GRCm39)	missense	probably damaging	1.00
R1648:Chd6	UTSW	2	160,883,978 (GRCm39)	missense	probably damaging	1.00
R1745:Chd6	UTSW	2	160,823,587 (GRCm39)	missense	probably damaging	0.96
R1766:Chd6	UTSW	2	160,808,559 (GRCm39)	missense	probably damaging	1.00
R1871:Chd6	UTSW	2	160,832,176 (GRCm39)	missense	probably damaging	1.00
R1928:Chd6	UTSW	2	160,809,920 (GRCm39)	splice site	probably benign
R1973:Chd6	UTSW	2	160,808,307 (GRCm39)	missense	probably damaging	0.99
R2200:Chd6	UTSW	2	160,825,673 (GRCm39)	missense	probably damaging	1.00
R2340:Chd6	UTSW	2	160,807,679 (GRCm39)	frame shift	probably null
R2341:Chd6	UTSW	2	160,807,679 (GRCm39)	frame shift	probably null
R2519:Chd6	UTSW	2	160,871,796 (GRCm39)	missense	possibly damaging	0.66
R2919:Chd6	UTSW	2	160,809,800 (GRCm39)	missense	possibly damaging	0.89
R3025:Chd6	UTSW	2	160,808,472 (GRCm39)	small deletion	probably benign
R3426:Chd6	UTSW	2	160,832,175 (GRCm39)	missense	probably damaging	1.00
R3427:Chd6	UTSW	2	160,832,175 (GRCm39)	missense	probably damaging	1.00
R4042:Chd6	UTSW	2	160,830,253 (GRCm39)	missense	probably damaging	1.00
R4273:Chd6	UTSW	2	160,803,211 (GRCm39)	missense	probably benign	0.04
R4360:Chd6	UTSW	2	160,791,776 (GRCm39)	missense	possibly damaging	0.48
R4399:Chd6	UTSW	2	160,807,238 (GRCm39)	missense	probably benign
R4458:Chd6	UTSW	2	160,871,796 (GRCm39)	missense	possibly damaging	0.66
R4583:Chd6	UTSW	2	160,856,114 (GRCm39)	missense	probably damaging	1.00
R4625:Chd6	UTSW	2	160,811,412 (GRCm39)	missense	probably damaging	1.00
R4740:Chd6	UTSW	2	160,812,103 (GRCm39)	missense	probably benign
R4765:Chd6	UTSW	2	160,808,164 (GRCm39)	nonsense	probably null
R4779:Chd6	UTSW	2	160,791,477 (GRCm39)	missense	probably damaging	1.00
R4877:Chd6	UTSW	2	160,871,219 (GRCm39)	splice site	probably benign
R5068:Chd6	UTSW	2	160,808,289 (GRCm39)	missense	possibly damaging	0.54
R5215:Chd6	UTSW	2	160,791,873 (GRCm39)	missense	probably damaging	1.00
R5275:Chd6	UTSW	2	160,811,283 (GRCm39)	missense	probably benign
R5405:Chd6	UTSW	2	160,807,310 (GRCm39)	missense	probably benign
R5598:Chd6	UTSW	2	160,856,032 (GRCm39)	missense	probably damaging	1.00
R5693:Chd6	UTSW	2	160,807,185 (GRCm39)	missense	probably benign
R5697:Chd6	UTSW	2	160,859,971 (GRCm39)	missense	probably damaging	1.00
R5715:Chd6	UTSW	2	160,791,798 (GRCm39)	missense	probably benign	0.00
R5759:Chd6	UTSW	2	160,825,682 (GRCm39)	missense	possibly damaging	0.91
R5761:Chd6	UTSW	2	160,798,999 (GRCm39)	missense	probably damaging	1.00
R5761:Chd6	UTSW	2	160,798,998 (GRCm39)	missense	probably damaging	1.00
R5954:Chd6	UTSW	2	160,807,747 (GRCm39)	missense	probably benign	0.00
R6025:Chd6	UTSW	2	160,807,502 (GRCm39)	missense	probably benign
R6104:Chd6	UTSW	2	160,856,052 (GRCm39)	missense	probably damaging	1.00
R6247:Chd6	UTSW	2	160,791,968 (GRCm39)	missense	probably damaging	1.00
R6393:Chd6	UTSW	2	160,821,407 (GRCm39)	missense	probably damaging	1.00
R6452:Chd6	UTSW	2	160,807,418 (GRCm39)	missense	possibly damaging	0.76
R6468:Chd6	UTSW	2	160,854,987 (GRCm39)	missense	probably damaging	1.00
R6784:Chd6	UTSW	2	160,808,174 (GRCm39)	missense	probably damaging	1.00
R6803:Chd6	UTSW	2	160,802,279 (GRCm39)	missense	possibly damaging	0.64
R6869:Chd6	UTSW	2	160,807,650 (GRCm39)	missense	probably benign
R6895:Chd6	UTSW	2	160,830,260 (GRCm39)	missense	probably damaging	1.00
R6925:Chd6	UTSW	2	160,855,047 (GRCm39)	missense	probably damaging	0.98
R7061:Chd6	UTSW	2	160,867,885 (GRCm39)	nonsense	probably null
R7064:Chd6	UTSW	2	160,791,983 (GRCm39)	missense	probably damaging	1.00
R7248:Chd6	UTSW	2	160,803,199 (GRCm39)	nonsense	probably null
R7287:Chd6	UTSW	2	160,850,312 (GRCm39)	missense	probably benign	0.07
R7431:Chd6	UTSW	2	160,868,248 (GRCm39)	missense	possibly damaging	0.92
R7486:Chd6	UTSW	2	160,791,923 (GRCm39)	missense	probably damaging	1.00
R7509:Chd6	UTSW	2	160,855,074 (GRCm39)	missense	probably damaging	1.00
R7699:Chd6	UTSW	2	160,867,863 (GRCm39)	missense	probably benign	0.13
R7748:Chd6	UTSW	2	160,808,539 (GRCm39)	missense	probably benign	0.37
R7785:Chd6	UTSW	2	160,812,095 (GRCm39)	missense	possibly damaging	0.51
R8002:Chd6	UTSW	2	160,832,241 (GRCm39)	missense	probably damaging	1.00
R8261:Chd6	UTSW	2	160,799,002 (GRCm39)	missense	probably damaging	1.00
R8317:Chd6	UTSW	2	160,832,241 (GRCm39)	missense	probably damaging	1.00
R8388:Chd6	UTSW	2	160,861,571 (GRCm39)	missense	probably damaging	1.00
R8865:Chd6	UTSW	2	160,862,989 (GRCm39)	missense	probably benign	0.10
R8996:Chd6	UTSW	2	160,823,543 (GRCm39)	missense	probably damaging	1.00
R9091:Chd6	UTSW	2	160,871,793 (GRCm39)	nonsense	probably null
R9270:Chd6	UTSW	2	160,871,793 (GRCm39)	nonsense	probably null
R9310:Chd6	UTSW	2	160,881,181 (GRCm39)	missense	probably damaging	1.00
R9367:Chd6	UTSW	2	160,871,784 (GRCm39)	missense	possibly damaging	0.83
R9438:Chd6	UTSW	2	160,799,078 (GRCm39)	missense	probably benign	0.01
R9756:Chd6	UTSW	2	160,802,259 (GRCm39)	missense	probably benign
Z1088:Chd6	UTSW	2	160,808,408 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGTTCTAAGCCTCAGGGTAC -3'
(R):5'- GTGTTCAATGCCCCAGTGTAGG -3'

Sequencing Primer
(F):5'- GGTACCTCAGGTCAAGGCAAC -3'
(R):5'- CCAGTGTAGGGGAATGCC -3'

Posted On

2021-07-15