Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02313:Chd6'

287874

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

6330406J24Rik, 5430439G14Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

160946978-161109075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 160965675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1873 (E1873V)

Ref Sequence

ENSEMBL: ENSMUSP00000042291 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039782
AA Change: E1873V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: E1873V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143081

Coding Region Coverage

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13c	T	A	3: 157,947,934 (GRCm38)	N136K	probably damaging	Het
Aph1b	A	T	9: 66,790,673 (GRCm38)		probably benign	Het
Atf7ip	A	G	6: 136,606,720 (GRCm38)	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,949,853 (GRCm38)	N400S	probably damaging	Het
Brca2	C	A	5: 150,538,661 (GRCm38)	S630Y	probably damaging	Het
Chrna10	T	C	7: 102,112,029 (GRCm38)		probably benign	Het
Col6a3	A	G	1: 90,811,606 (GRCm38)	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,810,705 (GRCm38)	N264S	probably damaging	Het
Dgkg	A	G	16: 22,570,230 (GRCm38)		probably benign	Het
Dpysl2	T	G	14: 66,824,390 (GRCm38)	M256L	probably benign	Het
Dsp	G	T	13: 38,196,523 (GRCm38)	E1816*	probably null	Het
Fam129c	A	G	8: 71,602,860 (GRCm38)	R305G	possibly damaging	Het
Fam13b	T	C	18: 34,454,656 (GRCm38)	K530E	probably damaging	Het
Fam49a	A	G	12: 12,364,751 (GRCm38)	T248A	possibly damaging	Het
Fastk	T	C	5: 24,443,092 (GRCm38)	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,337,352 (GRCm38)	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,778,892 (GRCm38)	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,453,605 (GRCm38)	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,508,389 (GRCm38)	T167A	probably benign	Het
Igsf10	A	G	3: 59,330,690 (GRCm38)	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,866 (GRCm38)		probably null	Het
Krt31	A	G	11: 100,048,396 (GRCm38)	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,516,088 (GRCm38)		probably benign	Het
Mfn2	T	A	4: 147,885,490 (GRCm38)	I375F	probably damaging	Het
Mfrp	A	T	9: 44,102,874 (GRCm38)	I180F	probably damaging	Het
Msh3	T	C	13: 92,349,312 (GRCm38)	E168G	possibly damaging	Het
Naa16	A	T	14: 79,384,668 (GRCm38)	V77D	probably damaging	Het
Nav2	T	C	7: 49,558,773 (GRCm38)	S1570P	probably damaging	Het
Numa1	C	T	7: 102,000,232 (GRCm38)	R1057*	probably null	Het
Nup210l	G	A	3: 90,122,792 (GRCm38)	A271T	probably damaging	Het
Ogdh	T	C	11: 6,355,400 (GRCm38)	V965A	probably damaging	Het
Olfr63	C	A	17: 33,269,665 (GRCm38)	Q314K	probably benign	Het
Olfr734	A	T	14: 50,320,016 (GRCm38)	V273E	probably damaging	Het
Olfr818	A	G	10: 129,945,903 (GRCm38)	L53P	probably damaging	Het
Olfr836	A	T	9: 19,121,375 (GRCm38)	N140I	probably damaging	Het
Olfr916	T	A	9: 38,658,066 (GRCm38)	I109F	probably damaging	Het
Pdp2	A	T	8: 104,594,899 (GRCm38)	Q460L	probably benign	Het
Pex5l	T	C	3: 32,992,992 (GRCm38)	T270A	probably benign	Het
Pkp4	C	T	2: 59,310,254 (GRCm38)	Q435*	probably null	Het
Prss32	G	A	17: 23,856,122 (GRCm38)	V149M	probably benign	Het
Riox2	C	A	16: 59,489,417 (GRCm38)	P378Q	probably benign	Het
Rita1	C	T	5: 120,609,793 (GRCm38)	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,905,525 (GRCm38)	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,824,755 (GRCm38)	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,675,500 (GRCm38)	G54*	probably null	Het
Slc24a5	C	T	2: 125,085,647 (GRCm38)		probably benign	Het
Tex101	C	T	7: 24,668,325 (GRCm38)	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,681,593 (GRCm38)	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,650,468 (GRCm38)	E382G	probably damaging	Het
Uggt1	A	T	1: 36,184,484 (GRCm38)	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,565,168 (GRCm38)	I259V	probably damaging	Het
Xpo1	T	A	11: 23,277,065 (GRCm38)	N131K	probably damaging	Het
Zfp579	C	T	7: 4,994,433 (GRCm38)	V160M	probably benign	Het
Zfp697	A	G	3: 98,425,450 (GRCm38)	D64G	probably benign	Het
Zfp974	T	C	7: 27,912,253 (GRCm38)	T16A	possibly damaging	Het

Other mutations in Chd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Chd6	APN	2	161,042,079 (GRCm38)	missense	probably benign	0.01
IGL00899:Chd6	APN	2	161,029,298 (GRCm38)	splice site	probably benign
IGL01104:Chd6	APN	2	160,961,927 (GRCm38)	missense	probably damaging	1.00
IGL01295:Chd6	APN	2	160,988,370 (GRCm38)	splice site	probably benign
IGL01717:Chd6	APN	2	160,965,259 (GRCm38)	missense	possibly damaging	0.96
IGL01795:Chd6	APN	2	160,961,374 (GRCm38)	missense	probably benign	0.00
IGL01814:Chd6	APN	2	161,059,929 (GRCm38)	missense	probably benign	0.25
IGL02016:Chd6	APN	2	160,983,678 (GRCm38)	missense	probably damaging	1.00
IGL02104:Chd6	APN	2	160,977,512 (GRCm38)	missense	probably benign
IGL02158:Chd6	APN	2	161,026,292 (GRCm38)	missense	possibly damaging	0.73
IGL02472:Chd6	APN	2	160,984,452 (GRCm38)	splice site	probably benign
IGL02522:Chd6	APN	2	160,965,796 (GRCm38)	missense	probably benign	0.30
IGL02626:Chd6	APN	2	161,039,350 (GRCm38)	splice site	probably benign
IGL02727:Chd6	APN	2	160,969,463 (GRCm38)	missense	probably damaging	0.96
IGL02738:Chd6	APN	2	160,965,698 (GRCm38)	missense	probably benign	0.45
IGL02743:Chd6	APN	2	160,960,263 (GRCm38)	missense	probably damaging	1.00
IGL02800:Chd6	APN	2	160,984,632 (GRCm38)	missense	probably damaging	1.00
IGL02811:Chd6	APN	2	160,990,301 (GRCm38)	missense	probably damaging	1.00
IGL02850:Chd6	APN	2	161,019,616 (GRCm38)	nonsense	probably null
IGL02979:Chd6	APN	2	160,966,170 (GRCm38)	missense	possibly damaging	0.48
IGL02993:Chd6	APN	2	161,052,384 (GRCm38)	splice site	probably benign
IGL03277:Chd6	APN	2	160,983,061 (GRCm38)	missense	probably null	1.00
IGL03346:Chd6	APN	2	160,960,362 (GRCm38)	missense	probably benign	0.00
IGL03357:Chd6	APN	2	161,018,016 (GRCm38)	splice site	probably benign
IGL03134:Chd6	UTSW	2	160,965,483 (GRCm38)	missense	possibly damaging	0.88
R0106:Chd6	UTSW	2	160,967,902 (GRCm38)	missense	probably damaging	1.00
R0106:Chd6	UTSW	2	160,967,902 (GRCm38)	missense	probably damaging	1.00
R0212:Chd6	UTSW	2	161,052,847 (GRCm38)	missense	probably damaging	0.99
R0363:Chd6	UTSW	2	161,014,324 (GRCm38)	missense	probably damaging	1.00
R0399:Chd6	UTSW	2	161,052,688 (GRCm38)	missense	probably damaging	1.00
R0511:Chd6	UTSW	2	160,992,191 (GRCm38)	missense	probably damaging	0.99
R0771:Chd6	UTSW	2	161,019,580 (GRCm38)	missense	probably damaging	1.00
R1147:Chd6	UTSW	2	160,990,271 (GRCm38)	missense	probably damaging	1.00
R1147:Chd6	UTSW	2	160,990,271 (GRCm38)	missense	probably damaging	1.00
R1184:Chd6	UTSW	2	161,030,802 (GRCm38)	missense	probably damaging	1.00
R1277:Chd6	UTSW	2	160,967,815 (GRCm38)	missense	probably damaging	1.00
R1396:Chd6	UTSW	2	160,983,103 (GRCm38)	missense	probably damaging	1.00
R1647:Chd6	UTSW	2	161,042,058 (GRCm38)	missense	probably damaging	1.00
R1648:Chd6	UTSW	2	161,042,058 (GRCm38)	missense	probably damaging	1.00
R1745:Chd6	UTSW	2	160,981,667 (GRCm38)	missense	probably damaging	0.96
R1766:Chd6	UTSW	2	160,966,639 (GRCm38)	missense	probably damaging	1.00
R1871:Chd6	UTSW	2	160,990,256 (GRCm38)	missense	probably damaging	1.00
R1928:Chd6	UTSW	2	160,968,000 (GRCm38)	splice site	probably benign
R1973:Chd6	UTSW	2	160,966,387 (GRCm38)	missense	probably damaging	0.99
R2200:Chd6	UTSW	2	160,983,753 (GRCm38)	missense	probably damaging	1.00
R2340:Chd6	UTSW	2	160,965,759 (GRCm38)	frame shift	probably null
R2341:Chd6	UTSW	2	160,965,759 (GRCm38)	frame shift	probably null
R2519:Chd6	UTSW	2	161,029,876 (GRCm38)	missense	possibly damaging	0.66
R2919:Chd6	UTSW	2	160,967,880 (GRCm38)	missense	possibly damaging	0.89
R3025:Chd6	UTSW	2	160,966,552 (GRCm38)	small deletion	probably benign
R3426:Chd6	UTSW	2	160,990,255 (GRCm38)	missense	probably damaging	1.00
R3427:Chd6	UTSW	2	160,990,255 (GRCm38)	missense	probably damaging	1.00
R4042:Chd6	UTSW	2	160,988,333 (GRCm38)	missense	probably damaging	1.00
R4273:Chd6	UTSW	2	160,961,291 (GRCm38)	missense	probably benign	0.04
R4360:Chd6	UTSW	2	160,949,856 (GRCm38)	missense	possibly damaging	0.48
R4399:Chd6	UTSW	2	160,965,318 (GRCm38)	missense	probably benign
R4458:Chd6	UTSW	2	161,029,876 (GRCm38)	missense	possibly damaging	0.66
R4583:Chd6	UTSW	2	161,014,194 (GRCm38)	missense	probably damaging	1.00
R4625:Chd6	UTSW	2	160,969,492 (GRCm38)	missense	probably damaging	1.00
R4740:Chd6	UTSW	2	160,970,183 (GRCm38)	missense	probably benign
R4765:Chd6	UTSW	2	160,966,244 (GRCm38)	nonsense	probably null
R4779:Chd6	UTSW	2	160,949,557 (GRCm38)	missense	probably damaging	1.00
R4877:Chd6	UTSW	2	161,029,299 (GRCm38)	splice site	probably benign
R5068:Chd6	UTSW	2	160,966,369 (GRCm38)	missense	possibly damaging	0.54
R5215:Chd6	UTSW	2	160,949,953 (GRCm38)	missense	probably damaging	1.00
R5275:Chd6	UTSW	2	160,969,363 (GRCm38)	missense	probably benign
R5405:Chd6	UTSW	2	160,965,390 (GRCm38)	missense	probably benign
R5598:Chd6	UTSW	2	161,014,112 (GRCm38)	missense	probably damaging	1.00
R5693:Chd6	UTSW	2	160,965,265 (GRCm38)	missense	probably benign
R5697:Chd6	UTSW	2	161,018,051 (GRCm38)	missense	probably damaging	1.00
R5715:Chd6	UTSW	2	160,949,878 (GRCm38)	missense	probably benign	0.00
R5759:Chd6	UTSW	2	160,983,762 (GRCm38)	missense	possibly damaging	0.91
R5761:Chd6	UTSW	2	160,957,079 (GRCm38)	missense	probably damaging	1.00
R5761:Chd6	UTSW	2	160,957,078 (GRCm38)	missense	probably damaging	1.00
R5954:Chd6	UTSW	2	160,965,827 (GRCm38)	missense	probably benign	0.00
R6025:Chd6	UTSW	2	160,965,582 (GRCm38)	missense	probably benign
R6104:Chd6	UTSW	2	161,014,132 (GRCm38)	missense	probably damaging	1.00
R6247:Chd6	UTSW	2	160,950,048 (GRCm38)	missense	probably damaging	1.00
R6393:Chd6	UTSW	2	160,979,487 (GRCm38)	missense	probably damaging	1.00
R6452:Chd6	UTSW	2	160,965,498 (GRCm38)	missense	possibly damaging	0.76
R6468:Chd6	UTSW	2	161,013,067 (GRCm38)	missense	probably damaging	1.00
R6784:Chd6	UTSW	2	160,966,254 (GRCm38)	missense	probably damaging	1.00
R6803:Chd6	UTSW	2	160,960,359 (GRCm38)	missense	possibly damaging	0.64
R6869:Chd6	UTSW	2	160,965,730 (GRCm38)	missense	probably benign
R6895:Chd6	UTSW	2	160,988,340 (GRCm38)	missense	probably damaging	1.00
R6925:Chd6	UTSW	2	161,013,127 (GRCm38)	missense	probably damaging	0.98
R7061:Chd6	UTSW	2	161,025,965 (GRCm38)	nonsense	probably null
R7064:Chd6	UTSW	2	160,950,063 (GRCm38)	missense	probably damaging	1.00
R7248:Chd6	UTSW	2	160,961,279 (GRCm38)	nonsense	probably null
R7287:Chd6	UTSW	2	161,008,392 (GRCm38)	missense	probably benign	0.07
R7431:Chd6	UTSW	2	161,026,328 (GRCm38)	missense	possibly damaging	0.92
R7486:Chd6	UTSW	2	160,950,003 (GRCm38)	missense	probably damaging	1.00
R7509:Chd6	UTSW	2	161,013,154 (GRCm38)	missense	probably damaging	1.00
R7699:Chd6	UTSW	2	161,025,943 (GRCm38)	missense	probably benign	0.13
R7748:Chd6	UTSW	2	160,966,619 (GRCm38)	missense	probably benign	0.37
R7785:Chd6	UTSW	2	160,970,175 (GRCm38)	missense	possibly damaging	0.51
R8002:Chd6	UTSW	2	160,990,321 (GRCm38)	missense	probably damaging	1.00
R8261:Chd6	UTSW	2	160,957,082 (GRCm38)	missense	probably damaging	1.00
R8317:Chd6	UTSW	2	160,990,321 (GRCm38)	missense	probably damaging	1.00
R8388:Chd6	UTSW	2	161,019,651 (GRCm38)	missense	probably damaging	1.00
R8865:Chd6	UTSW	2	161,021,069 (GRCm38)	missense	probably benign	0.10
R8867:Chd6	UTSW	2	161,021,069 (GRCm38)	missense	probably benign	0.10
R8996:Chd6	UTSW	2	160,981,623 (GRCm38)	missense	probably damaging	1.00
R9091:Chd6	UTSW	2	161,029,873 (GRCm38)	nonsense	probably null
R9270:Chd6	UTSW	2	161,029,873 (GRCm38)	nonsense	probably null
R9310:Chd6	UTSW	2	161,039,261 (GRCm38)	missense	probably damaging	1.00
R9367:Chd6	UTSW	2	161,029,864 (GRCm38)	missense	possibly damaging	0.83
R9438:Chd6	UTSW	2	160,957,158 (GRCm38)	missense	probably benign	0.01
R9756:Chd6	UTSW	2	160,960,339 (GRCm38)	missense	probably benign
Z1088:Chd6	UTSW	2	160,966,488 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16