Mutagenetix > Incidental Mutation

Incidental Mutation 'R7061:Chd6'

548245

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

5430439G14Rik, 6330406J24Rik

MMRRC Submission

045384-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R7061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160788898-160950995 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 160867885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 428 (Q428*)

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 null
Transcript: ENSMUST00000039782
AA Change: Q429*

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: Q429*

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 null
Transcript: ENSMUST00000134178
AA Change: Q428*

SMART Domains

Protein: ENSMUSP00000123240
Gene: ENSMUSG00000057133
AA Change: Q428*

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: 99.7%
20x: 99.1%

Validation Efficiency

99% (68/69)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aard	G	A	15: 51,903,617 (GRCm39)	M13I	probably benign	Het
Abcb5	A	C	12: 118,841,509 (GRCm39)	Y979D	probably damaging	Het
Adgrb1	G	C	15: 74,441,730 (GRCm39)	V4L	probably benign	Het
Ap3b2	C	T	7: 81,110,757 (GRCm39)	R1006Q	unknown	Het
Bpifa6	A	T	2: 153,834,236 (GRCm39)	T343S	probably benign	Het
Celsr3	T	A	9: 108,724,793 (GRCm39)	C2957*	probably null	Het
Col5a1	C	A	2: 27,915,690 (GRCm39)	C191*	probably null	Het
Cpox	A	G	16: 58,491,223 (GRCm39)	I145V	possibly damaging	Het
Csnk2a1	C	T	2: 152,116,091 (GRCm39)	R268C	probably benign	Het
Dclk2	A	G	3: 86,739,038 (GRCm39)		probably null	Het
Dennd5a	T	C	7: 109,504,386 (GRCm39)	E909G	probably benign	Het
Depdc1a	T	A	3: 159,228,489 (GRCm39)	S414T	possibly damaging	Het
Dock5	A	G	14: 68,007,703 (GRCm39)	F1502S	probably damaging	Het
Dop1b	G	T	16: 93,558,951 (GRCm39)	A448S	probably benign	Het
Dsg1c	C	A	18: 20,410,066 (GRCm39)	N511K	probably benign	Het
Epc2	G	T	2: 49,425,334 (GRCm39)	R108L	probably damaging	Het
Erp44	T	A	4: 48,219,375 (GRCm39)	I147F	probably benign	Het
Evc	T	C	5: 37,476,446 (GRCm39)	T368A	possibly damaging	Het
Fbxo41	G	T	6: 85,452,448 (GRCm39)	R738S	probably benign	Het
Fli1	T	C	9: 32,335,518 (GRCm39)	T305A	probably damaging	Het
Grk5	A	G	19: 61,034,530 (GRCm39)	T93A	probably benign	Het
Grm2	A	T	9: 106,528,424 (GRCm39)	N153K	probably damaging	Het
Helz	A	G	11: 107,540,003 (GRCm39)	T1007A	possibly damaging	Het
Helz2	A	G	2: 180,882,307 (GRCm39)	L162P	probably damaging	Het
Hmgcr	T	A	13: 96,802,656 (GRCm39)	Q81L	possibly damaging	Het
Hnrnpu	T	C	1: 178,163,691 (GRCm39)	K218E	unknown	Het
Hydin	A	T	8: 111,329,920 (GRCm39)	I4885F	possibly damaging	Het
Ibsp	A	G	5: 104,457,768 (GRCm39)		probably null	Het
Igfals	T	C	17: 25,099,281 (GRCm39)	L124P	probably damaging	Het
Il24	T	A	1: 130,811,108 (GRCm39)	H142L	possibly damaging	Het
Iqca1l	A	G	5: 24,750,063 (GRCm39)	M660T	probably benign	Het
Kcnh2	A	T	5: 24,536,920 (GRCm39)	H221Q	probably benign	Het
Man1a	A	G	10: 53,796,331 (GRCm39)	S454P	probably damaging	Het
Meiosin	A	T	7: 18,834,053 (GRCm39)		probably benign	Het
Mfsd4b1	C	T	10: 39,879,382 (GRCm39)	V172M	possibly damaging	Het
Mical2	T	A	7: 111,946,008 (GRCm39)	I763K	probably benign	Het
Mybpc3	A	G	2: 90,955,749 (GRCm39)	I594M	possibly damaging	Het
Neo1	T	A	9: 58,897,724 (GRCm39)	R77S	possibly damaging	Het
Nlrp6	A	G	7: 140,502,780 (GRCm39)	I265M	probably benign	Het
Or52n5	T	C	7: 104,587,883 (GRCm39)	L50P	probably damaging	Het
Or5bw2	A	G	7: 6,573,782 (GRCm39)	Y264C	probably damaging	Het
Or8b9	T	A	9: 37,766,942 (GRCm39)	V276D	possibly damaging	Het
Pcdhgb5	C	A	18: 37,864,976 (GRCm39)	P257Q	probably benign	Het
Phactr1	A	G	13: 43,286,457 (GRCm39)	D586G	probably damaging	Het
Pkn3	T	A	2: 29,973,548 (GRCm39)		probably null	Het
Prob1	A	T	18: 35,787,553 (GRCm39)	S234T	probably benign	Het
Rab14	A	T	2: 35,073,429 (GRCm39)	L131*	probably null	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rhebl1	A	G	15: 98,777,164 (GRCm39)	L103P	probably damaging	Het
Rnf10	G	T	5: 115,395,149 (GRCm39)	F146L	probably damaging	Het
Rrbp1	T	C	2: 143,831,087 (GRCm39)	K360R	possibly damaging	Het
Slc6a9	C	T	4: 117,725,261 (GRCm39)	T575I	probably benign	Het
Smo	A	G	6: 29,760,229 (GRCm39)	H776R	probably damaging	Het
Speer1f	T	C	5: 11,469,071 (GRCm39)	V74A	possibly damaging	Het
Tns2	A	G	15: 102,012,914 (GRCm39)	M1V	probably null	Het
Ttn	C	A	2: 76,725,036 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,306,240 (GRCm39)	M130L	probably benign	Het
Urb2	C	T	8: 124,755,036 (GRCm39)	H248Y	probably benign	Het
Vit	A	T	17: 78,932,585 (GRCm39)	N564I	probably damaging	Het
Vmn1r60	A	T	7: 5,547,310 (GRCm39)	Y263*	probably null	Het
Vmn2r16	A	T	5: 109,511,620 (GRCm39)	Y609F	probably damaging	Het
Xpo7	T	C	14: 70,908,512 (GRCm39)	I876V	probably benign	Het
Zfp442	A	G	2: 150,249,937 (GRCm39)	I655T	probably benign	Het
Zfp574	T	A	7: 24,779,622 (GRCm39)	C215S	possibly damaging	Het
Zfp608	T	C	18: 55,121,069 (GRCm39)	T173A	probably benign	Het
Zfp69	A	T	4: 120,788,598 (GRCm39)	V239D	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
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'- TAAGCTCATGCCCAAGCCTC -3'
(R):5'- TTTTCAGGGGCTGACAGAGAATG -3'

Sequencing Primer
(F):5'- CAAGTGCTGTGCAGGATGC -3'
(R):5'- GCTGACAGAGAATGGTTGACTACTTC -3'

Posted On

2019-05-13