Mutagenetix > Incidental Mutation

Incidental Mutation 'R7486:Chd6'

580142

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

5430439G14Rik, 6330406J24Rik

MMRRC Submission

045560-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R7486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

160788898-160950995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 160791923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2478 (V2478A)

Ref Sequence

ENSEMBL: ENSMUSP00000042291 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039782
AA Change: V2478A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: V2478A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	T	C	12: 81,605,657 (GRCm39)	I702V	probably benign	Het
Adgre5	T	C	8: 84,450,515 (GRCm39)	E815G	probably damaging	Het
Adgrl2	A	G	3: 148,523,330 (GRCm39)	V298A		Het
Akp3	A	G	1: 87,053,201 (GRCm39)	D91G	probably damaging	Het
Ano8	A	G	8: 71,937,642 (GRCm39)		probably null	Het
Blvra	T	C	2: 126,929,243 (GRCm39)	S136P	unknown	Het
Cacul1	T	A	19: 60,568,868 (GRCm39)	M97L	probably benign	Het
Ccdc80	T	C	16: 44,946,542 (GRCm39)	V827A	probably damaging	Het
Cep68	T	C	11: 20,192,166 (GRCm39)	E11G	probably benign	Het
Cfap221	A	T	1: 119,851,322 (GRCm39)	V813E	possibly damaging	Het
Chmp6	T	C	11: 119,807,783 (GRCm39)	F148S	probably benign	Het
Clca3a2	T	A	3: 144,503,362 (GRCm39)	I863F	probably damaging	Het
Cnnm2	T	C	19: 46,750,513 (GRCm39)	V101A	possibly damaging	Het
Cpne8	A	T	15: 90,400,109 (GRCm39)		probably null	Het
Dmbt1	T	G	7: 130,668,192 (GRCm39)	C483G	unknown	Het
Dnah7b	G	A	1: 46,329,894 (GRCm39)	G3246D	probably damaging	Het
Dnajc3	C	A	14: 119,209,816 (GRCm39)	T297K	probably benign	Het
Dpm3	A	G	3: 89,174,034 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,457,793 (GRCm39)	N51D	probably benign	Het
Erc1	G	A	6: 119,571,907 (GRCm39)	Q1022*	probably null	Het
Ercc5	T	A	1: 44,187,224 (GRCm39)	M1K	probably null	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fat4	C	A	3: 39,011,576 (GRCm39)	Y2225*	probably null	Het
Frk	G	A	10: 34,423,292 (GRCm39)	W123*	probably null	Het
Gm11568	T	A	11: 99,749,292 (GRCm39)	C166S	unknown	Het
Gpr153	A	G	4: 152,366,858 (GRCm39)	D337G	probably benign	Het
Gpt2	T	C	8: 86,252,235 (GRCm39)	F517L	probably damaging	Het
Gsg1	C	T	6: 135,214,427 (GRCm39)	E361K	probably benign	Het
Hsfy2	G	A	1: 56,676,130 (GRCm39)	R136*	probably null	Het
Insm1	G	A	2: 146,065,738 (GRCm39)	R518H	probably damaging	Het
Kank1	G	A	19: 25,388,193 (GRCm39)	C622Y	probably damaging	Het
Katnb1	T	A	8: 95,825,357 (GRCm39)	S640R	probably damaging	Het
Kcnmb4	A	G	10: 116,254,180 (GRCm39)	V199A	probably benign	Het
Lamb1	T	G	12: 31,337,441 (GRCm39)	S391A	probably benign	Het
Larp7-ps	A	T	4: 92,079,506 (GRCm39)	V105E	probably benign	Het
Macf1	T	G	4: 123,303,374 (GRCm39)	D376A	probably benign	Het
Map7d1	C	A	4: 126,128,179 (GRCm39)	R614L	unknown	Het
Mcm8	C	T	2: 132,681,440 (GRCm39)	R667W	probably damaging	Het
Med13l	C	T	5: 118,866,539 (GRCm39)	T531I	probably benign	Het
Mstn	G	T	1: 53,103,128 (GRCm39)	A155S	probably damaging	Het
Mycbp2	C	T	14: 103,434,690 (GRCm39)	R2251K	probably damaging	Het
Myo19	T	C	11: 84,796,463 (GRCm39)	S692P	probably benign	Het
Nipbl	A	T	15: 8,325,120 (GRCm39)	N2514K	probably benign	Het
Nkd2	T	A	13: 73,995,561 (GRCm39)		probably benign	Het
Nox3	T	A	17: 3,720,219 (GRCm39)	Y322F	probably damaging	Het
Nt5dc1	A	G	10: 34,275,805 (GRCm39)	Y135H	probably benign	Het
Oog3	T	A	4: 143,884,742 (GRCm39)	H398L	probably benign	Het
Or10g9	T	A	9: 39,912,181 (GRCm39)	Y114F	probably benign	Het
Or12j4	C	T	7: 140,045,947 (GRCm39)		probably benign	Het
Or1e29	T	C	11: 73,667,847 (GRCm39)	Y102C	probably damaging	Het
Otogl	A	G	10: 107,657,849 (GRCm39)	L1027P	probably damaging	Het
Pcdh20	T	A	14: 88,706,050 (GRCm39)	I417F	possibly damaging	Het
Pcdha12	T	A	18: 37,154,610 (GRCm39)	V443E	probably damaging	Het
Pcdhga2	A	G	18: 37,803,461 (GRCm39)	D435G	probably benign	Het
Pcnt	G	T	10: 76,254,270 (GRCm39)	T853K	probably benign	Het
Pcnt	T	C	10: 76,254,271 (GRCm39)	T853A	probably benign	Het
Pgghg	T	A	7: 140,522,393 (GRCm39)	S57R	probably benign	Het
Ppm1m	T	C	9: 106,073,810 (GRCm39)	D301G	probably damaging	Het
Ppp6r1	A	G	7: 4,642,899 (GRCm39)	V519A	probably benign	Het
Prss41	ACAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCA	17: 24,063,072 (GRCm39)		probably benign	Het
Rasa3	C	T	8: 13,640,201 (GRCm39)		probably null	Het
Robo4	T	C	9: 37,316,870 (GRCm39)	V395A	probably damaging	Het
Scrib	A	G	15: 75,929,499 (GRCm39)	S1123P	probably damaging	Het
Setd1b	A	G	5: 123,301,655 (GRCm39)	K45E	probably benign	Het
Slc14a1	T	C	18: 78,154,739 (GRCm39)	S216G	probably benign	Het
Slc25a45	A	G	19: 5,934,997 (GRCm39)	Y282C	probably damaging	Het
Slc6a5	T	C	7: 49,567,078 (GRCm39)	S255P	possibly damaging	Het
Smc2	A	T	4: 52,462,861 (GRCm39)	Q617L	possibly damaging	Het
Spo11	G	A	2: 172,825,870 (GRCm39)	D103N	probably benign	Het
Tcf20	A	T	15: 82,737,935 (GRCm39)	M1172K	possibly damaging	Het
Tesc	T	A	5: 118,184,382 (GRCm39)	S21T	probably benign	Het
Tie1	C	A	4: 118,337,101 (GRCm39)		probably null	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Trpm7	A	G	2: 126,673,115 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,965,259 (GRCm39)	D193G	possibly damaging	Het
Upk3a	A	T	15: 84,902,225 (GRCm39)		probably null	Het
Vmn2r25	T	C	6: 123,800,101 (GRCm39)	N747S	probably damaging	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,270,418 (GRCm39)		probably benign	Het
Zbtb2	G	A	10: 4,319,025 (GRCm39)	Q334*	probably null	Het
Zfp653	T	C	9: 21,967,824 (GRCm39)	N494D	probably damaging	Het
Zfp865	A	G	7: 5,034,259 (GRCm39)	D748G	possibly damaging	Het
Zzef1	T	C	11: 72,755,612 (GRCm39)	S1014P	possibly 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
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
R8867: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'- GCCAACTCCAAACATCTGGG -3'
(R):5'- TTTGCCATCTGGTGACTTTCAG -3'

Sequencing Primer
(F):5'- CAGGGTGTTCTTAACCTCT -3'
(R):5'- GGTGACTTTCAGCATCCAATG -3'

Posted On

2019-10-07