Mutagenetix > Incidental Mutation

Incidental Mutation 'R7699:Chd6'

647849

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

5430439G14Rik, 6330406J24Rik

MMRRC Submission

045760-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R7699 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160788898-160950995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 160867863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 436 (H436L)

Ref Sequence

ENSEMBL: ENSMUSP00000042291 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039782
AA Change: H436L

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: H436L

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

SMART Domains

Protein: ENSMUSP00000123240
Gene: ENSMUSG00000057133
AA Change: H435L

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% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	C	A	9: 90,070,792 (GRCm39)	P638T	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 55,121,836 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,319,674 (GRCm39)	I1404N	probably damaging	Het
Cdc42se1	A	G	3: 95,139,908 (GRCm39)	N35D	probably damaging	Het
Cep290	A	G	10: 100,376,231 (GRCm39)	S1447G	probably benign	Het
Cnbd2	T	C	2: 156,217,326 (GRCm39)	V605A	probably benign	Het
Col22a1	T	A	15: 71,845,700 (GRCm39)	D354V	probably damaging	Het
Col25a1	T	A	3: 130,316,128 (GRCm39)		probably null	Het
Cttnbp2	T	A	6: 18,514,734 (GRCm39)	M1L	possibly damaging	Het
Cux1	A	T	5: 136,514,593 (GRCm39)		probably null	Het
Cylc2	T	A	4: 51,229,335 (GRCm39)	S226T	unknown	Het
Cyp4b1	T	C	4: 115,499,162 (GRCm39)	D68G	probably benign	Het
Dicer1	A	C	12: 104,671,429 (GRCm39)	L947R	probably damaging	Het
Dmp1	T	C	5: 104,359,590 (GRCm39)	S89P	probably damaging	Het
Dpf1	A	G	7: 29,011,032 (GRCm39)	K144E	possibly damaging	Het
Emc1	T	A	4: 139,082,181 (GRCm39)	H94Q	probably benign	Het
Ep300	C	T	15: 81,470,594 (GRCm39)		probably benign	Het
Epha10	T	C	4: 124,796,440 (GRCm39)	I383T		Het
Epo	T	A	5: 137,483,438 (GRCm39)	E5D	probably benign	Het
Esp15	G	A	17: 39,955,624 (GRCm39)	V64I	possibly damaging	Het
Fbxl18	A	T	5: 142,871,504 (GRCm39)	V577E	probably damaging	Het
Fhl4	A	T	10: 84,934,113 (GRCm39)	C223S	probably damaging	Het
Fhl4	A	T	10: 84,934,379 (GRCm39)	I134N	probably benign	Het
Frmpd2	G	T	14: 33,264,895 (GRCm39)	M891I	probably benign	Het
Gk2	T	C	5: 97,604,257 (GRCm39)	I194V	probably benign	Het
Glt8d2	A	C	10: 82,498,122 (GRCm39)		probably null	Het
Gm12886	G	C	4: 121,273,876 (GRCm39)	H113Q	possibly damaging	Het
Hycc1	A	G	5: 24,120,494 (GRCm39)	S345P	probably damaging	Het
Ighv1-36	A	T	12: 114,843,646 (GRCm39)	Y71*	probably null	Het
Il18bp	A	G	7: 101,666,029 (GRCm39)	W50R	probably damaging	Het
Jmjd1c	T	A	10: 67,054,195 (GRCm39)	I33K	probably benign	Het
Lama5	C	T	2: 179,822,654 (GRCm39)	A2833T	probably damaging	Het
Manea	T	G	4: 26,340,758 (GRCm39)	N68T	probably benign	Het
Map1a	T	C	2: 121,130,201 (GRCm39)	L339P	probably damaging	Het
Mblac1	A	C	5: 138,192,919 (GRCm39)	D87A	probably damaging	Het
Mmp24	C	T	2: 155,640,096 (GRCm39)	T142I	probably damaging	Het
Mpp2	T	A	11: 101,950,261 (GRCm39)	H531L	probably damaging	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Mx1	T	A	16: 97,249,521 (GRCm39)	I339F	unknown	Het
Naip2	G	A	13: 100,296,877 (GRCm39)	T1053I	probably benign	Het
Nckap1l	A	G	15: 103,371,248 (GRCm39)		probably null	Het
Or51f23c-ps1	A	G	7: 102,431,529 (GRCm39)	Y282C	possibly damaging	Het
Or5an1b	T	C	19: 12,299,841 (GRCm39)	T117A	probably benign	Het
Otud7b	T	C	3: 96,063,280 (GRCm39)	F840L	probably damaging	Het
Pdzd8	T	C	19: 59,333,373 (GRCm39)	Y216C	probably damaging	Het
Pkd1l1	T	A	11: 8,915,142 (GRCm39)	I133F		Het
Plaur	A	G	7: 24,173,692 (GRCm39)	N221S	possibly damaging	Het
Plin4	T	C	17: 56,410,828 (GRCm39)	T1068A	probably benign	Het
Plxnd1	T	C	6: 115,936,755 (GRCm39)	D1659G	probably damaging	Het
Prpf8	T	A	11: 75,391,022 (GRCm39)	M1357K	probably benign	Het
Prr36	G	T	8: 4,263,989 (GRCm39)	T559N	unknown	Het
Prss46	A	G	9: 110,678,622 (GRCm39)	M2V	probably benign	Het
Rbpms	T	A	8: 34,354,391 (GRCm39)	E51D	probably damaging	Het
Rere	C	T	4: 150,701,555 (GRCm39)	R328W		Het
Retnla	T	A	16: 48,663,176 (GRCm39)	N26K	probably benign	Het
Rubcnl	G	A	14: 75,269,404 (GRCm39)	V21I	probably benign	Het
Safb	T	A	17: 56,908,504 (GRCm39)	S598R	unknown	Het
Sertad4	A	G	1: 192,529,175 (GRCm39)	S214P	possibly damaging	Het
Sin3a	C	T	9: 57,017,938 (GRCm39)	Q786*	probably null	Het
Slc8a3	A	C	12: 81,361,247 (GRCm39)	L524W	probably damaging	Het
Sp3	T	C	2: 72,801,573 (GRCm39)	T191A	probably benign	Het
Sp9	T	C	2: 73,103,724 (GRCm39)	S93P	probably damaging	Het
Tbrg1	A	C	9: 37,560,771 (GRCm39)	H368Q	probably benign	Het
Tinagl1	T	G	4: 130,061,832 (GRCm39)	Q198H	probably benign	Het
Usp19	C	T	9: 108,373,371 (GRCm39)	R648*	probably null	Het
Vmn2r124	A	G	17: 18,293,985 (GRCm39)	M691V	probably benign	Het
Vmn2r2	T	A	3: 64,024,536 (GRCm39)	M682L	possibly damaging	Het
Vps13d	T	A	4: 144,811,975 (GRCm39)	H3344L		Het
Vwa3a	G	A	7: 120,351,841 (GRCm39)	G35E	probably damaging	Het
Zfhx3	A	G	8: 109,677,754 (GRCm39)	S2935G	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp758	C	A	17: 22,594,646 (GRCm39)	Y377*	probably null	Het
Zfp952	A	G	17: 33,220,983 (GRCm39)	K67R	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
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
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'- TCATGCCCAAGCCTCTTACAAG -3'
(R):5'- TTTCAGGGGCTGACAGAGAATG -3'

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

Posted On

2020-09-02