Mutagenetix > Incidental Mutation

Incidental Mutation 'R5715:Chd6'

451090

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

5430439G14Rik, 6330406J24Rik

MMRRC Submission

043336-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R5715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160788898-160950995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160791798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 2520 (M2520V)

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: M2520V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: M2520V

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	A	11: 48,910,777 (GRCm39)	Y552F	probably damaging	Het
Asprv1	T	A	6: 86,605,596 (GRCm39)	D147E	probably benign	Het
Atg4c	G	T	4: 99,146,639 (GRCm39)	L405F	probably damaging	Het
Birc6	C	T	17: 74,938,615 (GRCm39)	L2670F	probably damaging	Het
Cdc20	T	C	4: 118,292,015 (GRCm39)	D379G	probably damaging	Het
Clca4b	A	G	3: 144,619,018 (GRCm39)	V707A	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,523,347 (GRCm39)	C2743*	probably null	Het
Coq6	C	A	12: 84,413,681 (GRCm39)	D70E	probably benign	Het
Cspg4	T	A	9: 56,798,335 (GRCm39)	V1450D	possibly damaging	Het
Dnah7a	A	G	1: 53,452,937 (GRCm39)	L3847P	probably damaging	Het
Drd2	T	A	9: 49,316,189 (GRCm39)	H316Q	probably benign	Het
Dusp19	T	A	2: 80,461,330 (GRCm39)	N206K	probably benign	Het
Fam13c	T	G	10: 70,370,670 (GRCm39)	F270C	probably damaging	Het
Fam20a	T	C	11: 109,569,257 (GRCm39)	E246G	probably damaging	Het
Fbxo31	A	G	8: 122,305,302 (GRCm39)	F65L	probably damaging	Het
Fshr	T	A	17: 89,293,824 (GRCm39)		probably null	Het
Fstl4	T	C	11: 52,891,243 (GRCm39)	V127A	possibly damaging	Het
Gdpd4	A	T	7: 97,610,804 (GRCm39)	I75F	probably benign	Het
Grm5	C	A	7: 87,779,464 (GRCm39)	A968E	probably benign	Het
Gucy2g	A	C	19: 55,221,587 (GRCm39)	F305V	possibly damaging	Het
Hivep3	T	C	4: 119,953,570 (GRCm39)	F629L	probably benign	Het
Hoxb1	A	G	11: 96,257,152 (GRCm39)	E167G	probably benign	Het
Hoxd4	T	C	2: 74,557,708 (GRCm39)	L29P	probably damaging	Het
Ikbkb	A	G	8: 23,168,866 (GRCm39)	L211P	probably damaging	Het
Insc	T	C	7: 114,449,076 (GRCm39)	V499A	probably benign	Het
Irak3	A	T	10: 119,978,641 (GRCm39)	H511Q	possibly damaging	Het
Itpripl1	T	C	2: 126,983,927 (GRCm39)	E65G	probably damaging	Het
Lurap1l	T	A	4: 80,871,958 (GRCm39)	S150R	possibly damaging	Het
Mab21l3	C	T	3: 101,730,723 (GRCm39)	R172Q	probably benign	Het
Macf1	T	C	4: 123,577,807 (GRCm39)	D59G	probably damaging	Het
Mettl21a	A	T	1: 64,654,314 (GRCm39)	S68T	probably benign	Het
Mlxip	T	A	5: 123,578,121 (GRCm39)	W146R	probably damaging	Het
Mpp2	T	A	11: 101,953,087 (GRCm39)	N285I	probably damaging	Het
Mrgprb4	T	C	7: 47,848,787 (GRCm39)	N47S	probably damaging	Het
Msi2	A	G	11: 88,276,889 (GRCm39)	Y237H	probably damaging	Het
Muc4	C	T	16: 32,570,734 (GRCm39)	T598I	possibly damaging	Het
Musk	A	T	4: 58,333,663 (GRCm39)	I253F	probably damaging	Het
Myo5b	G	T	18: 74,875,246 (GRCm39)	C1550F	possibly damaging	Het
Nckap5l	T	C	15: 99,321,457 (GRCm39)	T1137A	probably benign	Het
Neb	T	C	2: 52,141,780 (GRCm39)	D3009G	probably damaging	Het
Nxph1	T	A	6: 9,247,740 (GRCm39)	V237E	probably damaging	Het
Or52a33	A	C	7: 103,289,009 (GRCm39)	S113A	probably damaging	Het
Pla2g12a	A	G	3: 129,688,591 (GRCm39)	K150E	probably damaging	Het
Potegl	T	C	2: 23,097,989 (GRCm39)	Y56H	possibly damaging	Het
Pramel30	A	G	4: 144,057,870 (GRCm39)	D159G	possibly damaging	Het
Ptpn23	G	A	9: 110,216,143 (GRCm39)	R1238W	probably damaging	Het
Pts	C	T	9: 50,433,578 (GRCm39)	G124R	probably damaging	Het
Rfk	A	T	19: 17,376,002 (GRCm39)	I99F	probably benign	Het
Rictor	A	T	15: 6,780,197 (GRCm39)	R151*	probably null	Het
Scn2a	T	A	2: 65,547,928 (GRCm39)	I1040N	probably benign	Het
Serinc5	A	C	13: 92,842,710 (GRCm39)	T387P	probably damaging	Het
Sh3bp5l	A	G	11: 58,236,841 (GRCm39)	Q266R	possibly damaging	Het
Slc14a2	T	C	18: 78,201,551 (GRCm39)	Y656C	probably damaging	Het
Slc26a3	T	A	12: 31,498,842 (GRCm39)		probably null	Het
Slc3a2	G	T	19: 8,685,594 (GRCm39)	H168Q	probably benign	Het
Smarca2	A	T	19: 26,626,522 (GRCm39)	I449L	probably benign	Het
Smarcc1	T	C	9: 110,025,435 (GRCm39)	V704A	possibly damaging	Het
Sox13	A	G	1: 133,313,921 (GRCm39)		probably null	Het
Sptbn5	T	C	2: 119,902,985 (GRCm39)	E7G	probably damaging	Het
Stard10	A	G	7: 100,971,110 (GRCm39)	D26G	probably damaging	Het
Tap1	A	T	17: 34,411,868 (GRCm39)	R91*	probably null	Het
Tgfbrap1	A	T	1: 43,099,097 (GRCm39)	V239D	possibly damaging	Het
Tmem209	A	T	6: 30,497,922 (GRCm39)	Y124*	probably null	Het
Tmprss2	T	A	16: 97,370,183 (GRCm39)	E327V	possibly damaging	Het
Ttbk1	T	C	17: 46,790,133 (GRCm39)	Y104C	probably damaging	Het
Ttll10	A	T	4: 156,129,848 (GRCm39)	F154I	probably damaging	Het
Ubn2	T	A	6: 38,438,412 (GRCm39)	Y40*	probably null	Het
Ubr5	A	T	15: 38,002,477 (GRCm39)	S1519T	probably benign	Het
Ugt3a1	A	C	15: 9,306,430 (GRCm39)	D193A	probably damaging	Het
Upf1	A	T	8: 70,805,628 (GRCm39)	Y6N	probably damaging	Het
Vmn2r103	A	T	17: 20,015,201 (GRCm39)	D447V	probably benign	Het
Vps39	T	C	2: 120,155,717 (GRCm39)	N519S	possibly damaging	Het
Zfp109	T	C	7: 23,928,995 (GRCm39)	E138G	possibly damaging	Het
Znrf3	A	C	11: 5,236,239 (GRCm39)	V157G	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
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'- AGGCTTGTCGTCTACCAGAG -3'
(R):5'- AGCCATTGTAGCGGACTCTC -3'

Sequencing Primer
(F):5'- ACCAGAGCGTCTGTGTTTAC -3'
(R):5'- GACTCTCCTTCTGGAATGGGAC -3'

Posted On

2017-01-03