Mutagenetix > Incidental Mutation

Incidental Mutation 'R4877:Chd6'

374965

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

5430439G14Rik, 6330406J24Rik

MMRRC Submission

042486-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R4877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160788898-160950995 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 160871219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039782] [ENSMUST00000130265] [ENSMUST00000134178]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039782

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133

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

probably benign
Transcript: ENSMUST00000130265

SMART Domains

Protein: ENSMUSP00000117075
Gene: ENSMUSG00000057133

Domain	Start	End	E-Value	Type
low complexity region	1	23	N/A	INTRINSIC
Blast:CHROMO	26	210	4e-80	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000134178

SMART Domains

Protein: ENSMUSP00000123240
Gene: ENSMUSG00000057133

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155066

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (76/76)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,258,421 (GRCm39)	Y475H	probably damaging	Het
Adamts12	G	T	15: 11,327,787 (GRCm39)	G1388V	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Arhgap26	T	C	18: 39,429,982 (GRCm39)		probably null	Het
Atp7b	T	A	8: 22,518,617 (GRCm39)	I74F	probably damaging	Het
Bod1l	A	G	5: 41,977,337 (GRCm39)	Y1326H	probably benign	Het
Card11	T	C	5: 140,871,632 (GRCm39)	S690G	probably damaging	Het
Cbx3	A	G	6: 51,459,540 (GRCm39)	E169G	possibly damaging	Het
Cd28	A	T	1: 60,808,861 (GRCm39)	M192L	possibly damaging	Het
Cyp2c69	C	T	19: 39,866,056 (GRCm39)	C179Y	probably damaging	Het
Cyp7b1	A	T	3: 18,151,457 (GRCm39)	V252E	probably damaging	Het
Dcp2	G	T	18: 44,550,659 (GRCm39)	G378C	probably benign	Het
Dip2b	A	T	15: 100,058,410 (GRCm39)	I196L	possibly damaging	Het
Erbin	G	A	13: 103,987,346 (GRCm39)	P405S	probably damaging	Het
Etv1	A	G	12: 38,881,292 (GRCm39)		probably null	Het
F830104G03Rik	T	G	3: 56,797,917 (GRCm39)	K33T	unknown	Het
Fbln2	C	A	6: 91,210,477 (GRCm39)	H140Q	probably damaging	Het
Fxr1	A	G	3: 34,101,847 (GRCm39)	T109A	probably damaging	Het
Gm10110	T	C	14: 90,134,785 (GRCm39)		noncoding transcript	Het
Gm9949	C	T	18: 62,317,140 (GRCm39)		probably benign	Het
Grin2d	A	G	7: 45,504,039 (GRCm39)	L604P	probably damaging	Het
Gstcd	A	T	3: 132,711,314 (GRCm39)		probably benign	Het
Ifna16	A	G	4: 88,594,681 (GRCm39)	V138A	probably benign	Het
Itpr2	T	A	6: 146,226,703 (GRCm39)	N1314I	probably damaging	Het
Kitl	T	C	10: 99,916,728 (GRCm39)	V177A	probably damaging	Het
L3mbtl1	A	T	2: 162,790,488 (GRCm39)	Q185L	probably damaging	Het
Lhx9	T	A	1: 138,766,092 (GRCm39)	N232I	probably benign	Het
Lnx1	T	C	5: 74,788,784 (GRCm39)	R111G	probably benign	Het
Lrrc41	A	G	4: 115,936,602 (GRCm39)	I72M	probably damaging	Het
Lrriq1	T	A	10: 103,069,899 (GRCm39)	D39V	possibly damaging	Het
Lyrm7	A	G	11: 54,731,936 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,857,734 (GRCm39)	Y2508N	probably damaging	Het
Masp2	A	T	4: 148,687,328 (GRCm39)	Y70F	probably benign	Het
Mc4r	T	C	18: 66,992,409 (GRCm39)	I235V	probably benign	Het
Med12l	G	A	3: 59,152,214 (GRCm39)	V1000M	probably damaging	Het
Morc2b	T	C	17: 33,357,712 (GRCm39)	H20R	probably benign	Het
Ms4a1	A	T	19: 11,231,857 (GRCm39)	S173T	probably damaging	Het
Myh13	A	C	11: 67,228,477 (GRCm39)	D339A	probably damaging	Het
Nars1	A	T	18: 64,633,643 (GRCm39)	Y542*	probably null	Het
Nectin2	G	A	7: 19,451,645 (GRCm39)	T463I	possibly damaging	Het
Nrg4	A	G	9: 55,166,679 (GRCm39)	F64L	probably benign	Het
Nrxn1	T	A	17: 91,395,605 (GRCm39)	I184F	probably benign	Het
Nxph2	C	T	2: 23,289,846 (GRCm39)	P66L	probably benign	Het
Or10ag2	C	T	2: 87,248,907 (GRCm39)	Q170*	probably null	Het
Or2v1	C	A	11: 49,025,608 (GRCm39)	F196L	probably damaging	Het
Pard3	A	T	8: 128,115,018 (GRCm39)	T579S	probably damaging	Het
Patj	A	G	4: 98,457,295 (GRCm39)	I48V	possibly damaging	Het
Paxbp1	T	C	16: 90,841,199 (GRCm39)		probably benign	Het
Pou2f3	A	T	9: 43,050,618 (GRCm39)	N235K	possibly damaging	Het
Ppp2r2c	A	G	5: 37,026,214 (GRCm39)	D17G	probably damaging	Het
Rgs8	A	G	1: 153,568,633 (GRCm39)		probably benign	Het
Rnd3	A	G	2: 51,038,762 (GRCm39)	V42A	probably damaging	Het
Rp1l1	A	G	14: 64,263,620 (GRCm39)	R247G	probably benign	Het
Sec31b	A	T	19: 44,524,172 (GRCm39)	V156D	probably damaging	Het
Slc22a2	T	A	17: 12,833,702 (GRCm39)	Y461N	possibly damaging	Het
Spag6l	T	C	16: 16,599,622 (GRCm39)	K280R	possibly damaging	Het
Spata31d1a	A	G	13: 59,850,337 (GRCm39)	L597P	probably damaging	Het
Srr	G	T	11: 74,798,606 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Tgif1	A	C	17: 71,156,700 (GRCm39)		probably null	Het
Tle3	A	T	9: 61,280,781 (GRCm39)		probably benign	Het
Tubgcp4	A	G	2: 121,020,343 (GRCm39)	T439A	probably benign	Het
Twist1	C	T	12: 34,008,350 (GRCm39)	T125M	probably damaging	Het
Unc13a	T	A	8: 72,111,260 (GRCm39)	D317V	possibly damaging	Het
Vmn1r227	T	A	17: 20,955,407 (GRCm39)		noncoding transcript	Het
Vps72	G	T	3: 95,025,498 (GRCm39)		probably benign	Het
Zfp184	T	C	13: 22,144,498 (GRCm39)	S735P	possibly damaging	Het
Zfp42	A	T	8: 43,748,725 (GRCm39)	C259S	possibly damaging	Het
Zmiz2	A	G	11: 6,353,251 (GRCm39)	H678R	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
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
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'- AGCCTAGGTATTAGATAAGCAGTAG -3'
(R):5'- GTTTGTCCCGTAAACCTGCC -3'

Sequencing Primer
(F):5'- GGGCCTGTTTGTTCCTAA -3'
(R):5'- CAGTTTCAGTGGAACTTGTAGAG -3'

Posted On

2016-03-17