Mutagenetix > Incidental Mutation

Incidental Mutation 'R5275:Chd6'

403867

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

5430439G14Rik, 6330406J24Rik

MMRRC Submission

042838-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R5275 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160788898-160950995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 160811283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1440 (L1440P)

Ref Sequence

ENSEMBL: ENSMUSP00000042291 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039782
AA Change: L1440P

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

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: L1440P

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

noncoding transcript
Transcript: ENSMUST00000137152

Meta Mutation Damage Score

0.0715

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (59/59)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,092,856 (GRCm39)	R155H	probably benign	Het
Abcc1	C	T	16: 14,284,050 (GRCm39)	L1222F	probably damaging	Het
Alpl	T	C	4: 137,476,919 (GRCm39)	T245A	probably benign	Het
Ank2	T	C	3: 126,825,832 (GRCm39)	H378R	probably damaging	Het
Apold1	G	T	6: 134,960,763 (GRCm39)	L72F	probably damaging	Het
Arhgef1	G	A	7: 24,618,777 (GRCm39)		probably null	Het
Atp5f1c	T	C	2: 10,073,544 (GRCm39)	R10G	possibly damaging	Het
Becn2	A	G	1: 175,748,336 (GRCm39)	H134R	probably benign	Het
Ccr10	C	T	11: 101,065,111 (GRCm39)	V140M	possibly damaging	Het
Cep135	T	A	5: 76,741,051 (GRCm39)	H42Q	possibly damaging	Het
Clca3a2	A	G	3: 144,519,340 (GRCm39)	S279P	probably damaging	Het
Cma1	A	T	14: 56,179,157 (GRCm39)	I233N	probably damaging	Het
Dnajc16	T	C	4: 141,495,239 (GRCm39)	E493G	possibly damaging	Het
Dst	T	C	1: 34,219,229 (GRCm39)	S1890P	probably benign	Het
Ears2	T	C	7: 121,647,421 (GRCm39)	R288G	probably damaging	Het
Elovl4	G	A	9: 83,662,714 (GRCm39)	P273L	possibly damaging	Het
Fryl	T	C	5: 73,270,134 (GRCm39)	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,280,751 (GRCm39)		noncoding transcript	Het
Gm5117	T	A	8: 32,229,595 (GRCm39)		noncoding transcript	Het
H2-T5	T	C	17: 36,472,567 (GRCm39)		probably null	Het
Lmtk3	G	A	7: 45,440,722 (GRCm39)	D243N	probably damaging	Het
Lsm7	T	C	10: 80,690,454 (GRCm39)	E32G	probably damaging	Het
Opa1	C	T	16: 29,430,397 (GRCm39)	T451I	probably damaging	Het
Or2bd2	A	T	7: 6,443,015 (GRCm39)	T39S	probably benign	Het
Or4f15	T	A	2: 111,814,174 (GRCm39)	I82F	probably damaging	Het
Or4k1	T	A	14: 50,377,953 (GRCm39)	I48F	probably benign	Het
Pcdh12	T	A	18: 38,417,154 (GRCm39)		probably benign	Het
Perm1	T	C	4: 156,301,975 (GRCm39)	L173P	probably benign	Het
Plvap	T	C	8: 71,964,314 (GRCm39)	Q16R	probably benign	Het
Ppan	T	A	9: 20,801,069 (GRCm39)	Y115*	probably null	Het
Prb1c	T	G	6: 132,338,840 (GRCm39)	Q126P	unknown	Het
Prl7d1	A	T	13: 27,893,230 (GRCm39)	V227D	probably damaging	Het
Prss54	T	C	8: 96,291,106 (GRCm39)	T165A	probably damaging	Het
Psrc1	A	G	3: 108,293,675 (GRCm39)	I195V	probably benign	Het
Ptpn20	A	G	14: 33,353,149 (GRCm39)	H296R	probably benign	Het
Rergl	A	G	6: 139,478,819 (GRCm39)		probably null	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Scfd1	A	T	12: 51,462,372 (GRCm39)	H409L	probably benign	Het
Serpina3c	T	C	12: 104,114,637 (GRCm39)	E333G	probably damaging	Het
Serpinb6c	A	G	13: 34,077,800 (GRCm39)	F190S	probably damaging	Het
Slc24a5	C	T	2: 124,927,781 (GRCm39)	T360I	probably benign	Het
Snx6	T	C	12: 54,830,807 (GRCm39)	H51R	probably damaging	Het
Sorl1	A	T	9: 41,942,198 (GRCm39)	V1009D	probably benign	Het
Tdh	T	C	14: 63,733,558 (GRCm39)	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,018,346 (GRCm39)	L1255*	probably null	Het
Tlk1	C	T	2: 70,582,549 (GRCm39)		probably benign	Het
Tnc	G	A	4: 63,882,967 (GRCm39)	Q1885*	probably null	Het
Vcl	T	C	14: 21,060,146 (GRCm39)	V595A	probably damaging	Het
Vmn1r84	A	T	7: 12,095,741 (GRCm39)	N305K	probably benign	Het
Zbtb2	T	C	10: 4,318,508 (GRCm39)	K506R	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
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'- CCCTATTCACCATTGGAGGCTG -3'
(R):5'- TCCTCACTGATGTTTGAAGCCC -3'

Sequencing Primer
(F):5'- CTGTGGTTAAGAAATTCTGAAGGC -3'
(R):5'- CACTGATGTTTGAAGCCCAGGATG -3'

Posted On

2016-07-22