Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02738:Chd6'

305739

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 #

IGL02738

Quality Score

Status

Chromosome

Chromosomal Location

160946978-161109075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 160965698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1865 (S1865R)

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: S1865R

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: S1865R

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	A	T	2: 150,624,872		probably benign	Het
Akr1c21	A	T	13: 4,580,301	N198Y	probably damaging	Het
Anapc11	A	T	11: 120,599,276	K6I	probably benign	Het
Angel1	G	A	12: 86,705,286	L554F	probably benign	Het
Arhgap11a	A	T	2: 113,832,975	*988K	probably null	Het
Arnt	T	A	3: 95,495,320		probably null	Het
Atp1a3	T	A	7: 24,990,476	D519V	possibly damaging	Het
Bdp1	C	A	13: 100,051,353	A1575S	probably benign	Het
Bglap	G	A	3: 88,384,408	T3I	unknown	Het
Brca2	C	T	5: 150,567,035	P3054L	probably damaging	Het
Btn2a2	C	A	13: 23,478,806	E316*	probably null	Het
C1qtnf9	C	T	14: 60,779,939	T306I	probably benign	Het
Caprin2	T	C	6: 148,842,862	T1022A	probably damaging	Het
Cd109	T	C	9: 78,691,299	Y940H	probably damaging	Het
Cd300ld	A	G	11: 114,984,250	L186S	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Chrna2	T	C	14: 66,149,440	V345A	probably benign	Het
Dnah1	T	G	14: 31,292,640	E1756A	probably benign	Het
Dnah3	C	T	7: 119,965,497	A2637T	probably benign	Het
Ern2	A	G	7: 122,182,899	F80S	probably damaging	Het
Ero1lb	A	G	13: 12,604,433	I439V	possibly damaging	Het
Eva1a	T	G	6: 82,071,230	S30A	probably benign	Het
Fam71d	T	A	12: 78,734,215		probably benign	Het
Fer1l4	A	G	2: 156,045,728	L516P	probably benign	Het
Hexim2	T	C	11: 103,138,277	S52P	probably damaging	Het
Hoxb9	A	T	11: 96,274,728	M208L	possibly damaging	Het
Lbr	A	G	1: 181,832,213	V139A	probably benign	Het
Lcn10	G	A	2: 25,684,020		probably benign	Het
Letm2	A	G	8: 25,586,773	I271T	probably damaging	Het
Lrrc34	T	C	3: 30,631,292	S303G	possibly damaging	Het
Matn2	C	A	15: 34,388,739	A325D	probably benign	Het
Mboat4	T	C	8: 34,115,104	L4P	probably damaging	Het
Mmp1a	T	A	9: 7,464,301		probably benign	Het
Naip2	T	A	13: 100,189,177	R74S	probably benign	Het
Neb	G	T	2: 52,243,850	Q3374K	probably damaging	Het
Nup210l	A	G	3: 90,136,850	E486G	possibly damaging	Het
Olfr1024	A	G	2: 85,904,949	V35A	probably benign	Het
Olfr1301	A	C	2: 111,754,354	Y35S	probably damaging	Het
Olfr142	A	G	2: 90,252,355	I211T	possibly damaging	Het
Olfr816	A	T	10: 129,911,331		probably benign	Het
Pde8a	A	C	7: 81,326,342	N677H	probably damaging	Het
Plag1	G	A	4: 3,903,812	Q460*	probably null	Het
Podnl1	A	G	8: 84,132,195	T550A	probably benign	Het
Ptpn22	A	G	3: 103,874,066		probably benign	Het
Pycrl	A	T	15: 75,918,716	I98N	probably damaging	Het
Rtn4r	A	G	16: 18,151,188	Y160C	probably damaging	Het
Slc27a4	A	G	2: 29,811,226	N343S	probably benign	Het
Slc2a4	A	G	11: 69,946,114	Y43H	probably damaging	Het
Sorbs1	A	T	19: 40,376,904	L145Q	probably damaging	Het
Speer2	A	T	16: 69,861,712	S22T	probably benign	Het
Sugp2	G	T	8: 70,243,799	G474V	probably damaging	Het
Syt3	C	T	7: 44,386,023	S18L	possibly damaging	Het
Tacc1	T	C	8: 25,201,143	E48G	probably damaging	Het
Tdrd6	A	G	17: 43,620,446	V2083A	probably benign	Het
Thra	A	T	11: 98,764,359	H355L	probably benign	Het
Tmem35b	C	T	4: 127,126,188	Q34*	probably null	Het
Unk	G	T	11: 116,056,191	G537V	probably damaging	Het
Usp32	T	A	11: 85,083,806	D92V	probably damaging	Het
Vmn1r209	G	T	13: 22,806,120	Y133*	probably null	Het
Vmn1r42	A	G	6: 89,844,648	V313A	possibly damaging	Het
Vnn1	A	G	10: 23,904,622	I503V	probably benign	Het
Vwa2	G	A	19: 56,897,929	G143R	possibly damaging	Het

Other mutations in Chd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Chd6	APN	2	161042079	missense	probably benign	0.01
IGL00899:Chd6	APN	2	161029298	splice site	probably benign
IGL01104:Chd6	APN	2	160961927	missense	probably damaging	1.00
IGL01295:Chd6	APN	2	160988370	splice site	probably benign
IGL01717:Chd6	APN	2	160965259	missense	possibly damaging	0.96
IGL01795:Chd6	APN	2	160961374	missense	probably benign	0.00
IGL01814:Chd6	APN	2	161059929	missense	probably benign	0.25
IGL02016:Chd6	APN	2	160983678	missense	probably damaging	1.00
IGL02104:Chd6	APN	2	160977512	missense	probably benign
IGL02158:Chd6	APN	2	161026292	missense	possibly damaging	0.73
IGL02313:Chd6	APN	2	160965675	missense	probably damaging	1.00
IGL02472:Chd6	APN	2	160984452	splice site	probably benign
IGL02522:Chd6	APN	2	160965796	missense	probably benign	0.30
IGL02626:Chd6	APN	2	161039350	splice site	probably benign
IGL02727:Chd6	APN	2	160969463	missense	probably damaging	0.96
IGL02743:Chd6	APN	2	160960263	missense	probably damaging	1.00
IGL02800:Chd6	APN	2	160984632	missense	probably damaging	1.00
IGL02811:Chd6	APN	2	160990301	missense	probably damaging	1.00
IGL02850:Chd6	APN	2	161019616	nonsense	probably null
IGL02979:Chd6	APN	2	160966170	missense	possibly damaging	0.48
IGL02993:Chd6	APN	2	161052384	splice site	probably benign
IGL03277:Chd6	APN	2	160983061	missense	probably null	1.00
IGL03346:Chd6	APN	2	160960362	missense	probably benign	0.00
IGL03357:Chd6	APN	2	161018016	splice site	probably benign
IGL03134:Chd6	UTSW	2	160965483	missense	possibly damaging	0.88
R0106:Chd6	UTSW	2	160967902	missense	probably damaging	1.00
R0106:Chd6	UTSW	2	160967902	missense	probably damaging	1.00
R0212:Chd6	UTSW	2	161052847	missense	probably damaging	0.99
R0363:Chd6	UTSW	2	161014324	missense	probably damaging	1.00
R0399:Chd6	UTSW	2	161052688	missense	probably damaging	1.00
R0511:Chd6	UTSW	2	160992191	missense	probably damaging	0.99
R0771:Chd6	UTSW	2	161019580	missense	probably damaging	1.00
R1147:Chd6	UTSW	2	160990271	missense	probably damaging	1.00
R1147:Chd6	UTSW	2	160990271	missense	probably damaging	1.00
R1184:Chd6	UTSW	2	161030802	missense	probably damaging	1.00
R1277:Chd6	UTSW	2	160967815	missense	probably damaging	1.00
R1396:Chd6	UTSW	2	160983103	missense	probably damaging	1.00
R1647:Chd6	UTSW	2	161042058	missense	probably damaging	1.00
R1648:Chd6	UTSW	2	161042058	missense	probably damaging	1.00
R1745:Chd6	UTSW	2	160981667	missense	probably damaging	0.96
R1766:Chd6	UTSW	2	160966639	missense	probably damaging	1.00
R1871:Chd6	UTSW	2	160990256	missense	probably damaging	1.00
R1928:Chd6	UTSW	2	160968000	splice site	probably benign
R1973:Chd6	UTSW	2	160966387	missense	probably damaging	0.99
R2200:Chd6	UTSW	2	160983753	missense	probably damaging	1.00
R2340:Chd6	UTSW	2	160965759	frame shift	probably null
R2341:Chd6	UTSW	2	160965759	frame shift	probably null
R2519:Chd6	UTSW	2	161029876	missense	possibly damaging	0.66
R2919:Chd6	UTSW	2	160967880	missense	possibly damaging	0.89
R3025:Chd6	UTSW	2	160966552	small deletion	probably benign
R3426:Chd6	UTSW	2	160990255	missense	probably damaging	1.00
R3427:Chd6	UTSW	2	160990255	missense	probably damaging	1.00
R4042:Chd6	UTSW	2	160988333	missense	probably damaging	1.00
R4273:Chd6	UTSW	2	160961291	missense	probably benign	0.04
R4360:Chd6	UTSW	2	160949856	missense	possibly damaging	0.48
R4399:Chd6	UTSW	2	160965318	missense	probably benign
R4458:Chd6	UTSW	2	161029876	missense	possibly damaging	0.66
R4583:Chd6	UTSW	2	161014194	missense	probably damaging	1.00
R4625:Chd6	UTSW	2	160969492	missense	probably damaging	1.00
R4740:Chd6	UTSW	2	160970183	missense	probably benign
R4765:Chd6	UTSW	2	160966244	nonsense	probably null
R4779:Chd6	UTSW	2	160949557	missense	probably damaging	1.00
R4877:Chd6	UTSW	2	161029299	splice site	probably benign
R5068:Chd6	UTSW	2	160966369	missense	possibly damaging	0.54
R5215:Chd6	UTSW	2	160949953	missense	probably damaging	1.00
R5275:Chd6	UTSW	2	160969363	missense	probably benign
R5405:Chd6	UTSW	2	160965390	missense	probably benign
R5598:Chd6	UTSW	2	161014112	missense	probably damaging	1.00
R5693:Chd6	UTSW	2	160965265	missense	probably benign
R5697:Chd6	UTSW	2	161018051	missense	probably damaging	1.00
R5715:Chd6	UTSW	2	160949878	missense	probably benign	0.00
R5759:Chd6	UTSW	2	160983762	missense	possibly damaging	0.91
R5761:Chd6	UTSW	2	160957078	missense	probably damaging	1.00
R5761:Chd6	UTSW	2	160957079	missense	probably damaging	1.00
R5954:Chd6	UTSW	2	160965827	missense	probably benign	0.00
R6025:Chd6	UTSW	2	160965582	missense	probably benign
R6104:Chd6	UTSW	2	161014132	missense	probably damaging	1.00
R6247:Chd6	UTSW	2	160950048	missense	probably damaging	1.00
R6393:Chd6	UTSW	2	160979487	missense	probably damaging	1.00
R6452:Chd6	UTSW	2	160965498	missense	possibly damaging	0.76
R6468:Chd6	UTSW	2	161013067	missense	probably damaging	1.00
R6784:Chd6	UTSW	2	160966254	missense	probably damaging	1.00
R6803:Chd6	UTSW	2	160960359	missense	possibly damaging	0.64
R6869:Chd6	UTSW	2	160965730	missense	probably benign
R6895:Chd6	UTSW	2	160988340	missense	probably damaging	1.00
R6925:Chd6	UTSW	2	161013127	missense	probably damaging	0.98
R7061:Chd6	UTSW	2	161025965	nonsense	probably null
R7064:Chd6	UTSW	2	160950063	missense	probably damaging	1.00
R7248:Chd6	UTSW	2	160961279	nonsense	probably null
R7287:Chd6	UTSW	2	161008392	missense	probably benign	0.07
R7431:Chd6	UTSW	2	161026328	missense	possibly damaging	0.92
R7486:Chd6	UTSW	2	160950003	missense	probably damaging	1.00
R7509:Chd6	UTSW	2	161013154	missense	probably damaging	1.00
R7699:Chd6	UTSW	2	161025943	missense	probably benign	0.13
R7748:Chd6	UTSW	2	160966619	missense	probably benign	0.37
R7785:Chd6	UTSW	2	160970175	missense	possibly damaging	0.51
R8002:Chd6	UTSW	2	160990321	missense	probably damaging	1.00
R8261:Chd6	UTSW	2	160957082	missense	probably damaging	1.00
R8317:Chd6	UTSW	2	160990321	missense	probably damaging	1.00
R8388:Chd6	UTSW	2	161019651	missense	probably damaging	1.00
R8865:Chd6	UTSW	2	161021069	missense	probably benign	0.10
R8867:Chd6	UTSW	2	161021069	missense	probably benign	0.10
R8996:Chd6	UTSW	2	160981623	missense	probably damaging	1.00
R9091:Chd6	UTSW	2	161029873	nonsense	probably null
R9270:Chd6	UTSW	2	161029873	nonsense	probably null
R9310:Chd6	UTSW	2	161039261	missense	probably damaging	1.00
R9367:Chd6	UTSW	2	161029864	missense	possibly damaging	0.83
R9438:Chd6	UTSW	2	160957158	missense	probably benign	0.01
R9756:Chd6	UTSW	2	160960339	missense	probably benign
Z1088:Chd6	UTSW	2	160966488	missense	probably damaging	1.00

Posted On

2015-04-16