Mutagenetix > Incidental Mutations

Incidental Mutation 'R2519:Chd6'

476607

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

6330406J24Rik, 5430439G14Rik

MMRRC Submission

040423-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.746) question?

Stock #

R2519 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160946978-161109075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 161029876 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 213 (Y213F)

Ref Sequence

ENSEMBL: ENSMUSP00000117075 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039782

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133

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

possibly damaging
Transcript: ENSMUST00000130265
AA Change: Y213F

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117075
Gene: ENSMUSG00000057133
AA Change: Y213F

Domain	Start	End	E-Value	Type
low complexity region	1	23	N/A	INTRINSIC
Blast:CHROMO	26	210	4e-80	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000134178

SMART Domains

Protein: ENSMUSP00000123240
Gene: ENSMUSG00000057133

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155066

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (72/73)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408J17Rik	G	A	10: 93,589,588		probably benign	Het
Actn1	A	T	12: 80,192,389	H247Q	probably damaging	Het
Adgre1	T	C	17: 57,410,956	C323R	probably damaging	Het
Adgrf2	T	A	17: 42,710,407	I509F	probably damaging	Het
Aknad1	A	T	3: 108,756,468	T331S	probably damaging	Het
Aldh1a3	T	C	7: 66,422,299	D39G	probably benign	Het
Alms1	C	A	6: 85,667,963		probably benign	Het
Ankhd1	T	G	18: 36,578,543		probably null	Het
Arfgef2	T	C	2: 166,881,244	S1535P	probably benign	Het
BC027072	C	T	17: 71,751,647	S345N	probably damaging	Het
Bicc1	T	C	10: 70,930,644	E916G	probably damaging	Het
Birc2	A	T	9: 7,821,179	D381E	possibly damaging	Het
Btbd11	T	A	10: 85,651,611	V981D	probably damaging	Het
Carnmt1	A	G	19: 18,693,711	I316V	probably benign	Het
Coq7	A	T	7: 118,510,148	W226R	unknown	Het
Cyp2d9	G	A	15: 82,454,518		probably null	Het
Ddx42	T	A	11: 106,245,329	N635K	probably damaging	Het
Dmtf1	T	C	5: 9,129,323	T292A	possibly damaging	Het
Dnajb8	T	C	6: 88,222,875	V131A	probably benign	Het
Dock6	T	C	9: 21,816,333	E1367G	possibly damaging	Het
Dvl1	T	A	4: 155,855,543	Y377*	probably null	Het
Eif4g3	T	A	4: 138,097,318	F278Y	probably benign	Het
Fancg	A	T	4: 43,008,787	L150H	probably damaging	Het
Fastkd5	T	C	2: 130,616,194	T159A	possibly damaging	Het
Fkrp	G	T	7: 16,810,952	Y328*	probably null	Het
Fmo3	A	T	1: 162,958,305	V372D	probably damaging	Het
Gm10639	T	G	9: 78,304,439	L161R	probably damaging	Het
Gm12184	A	G	11: 48,826,123	I76T	probably damaging	Het
Gm5065	A	T	7: 5,359,834	I155F	probably damaging	Het
Gtf2h4	C	A	17: 35,670,909	G143W	probably damaging	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hmcn1	A	T	1: 150,773,820	Y638*	probably null	Het
Ighv11-2	T	A	12: 114,048,292	Q101L	probably damaging	Het
Lipf	G	T	19: 33,965,525	V78L	probably damaging	Het
Magi3	T	C	3: 104,015,765	E1212G	probably benign	Het
Mfap5	T	C	6: 122,525,989	S75P	probably damaging	Het
Mn1	C	A	5: 111,418,552	H129Q	possibly damaging	Het
Morc3	A	G	16: 93,862,539		probably null	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Myo5c	A	G	9: 75,250,436	I224V	probably damaging	Het
Nupl1	T	C	14: 60,223,359	T486A	probably benign	Het
Olfr1026	A	G	2: 85,923,607	Y113C	probably damaging	Het
Olfr910	T	A	9: 38,538,985	V30D	probably damaging	Het
Parp14	A	T	16: 35,858,203	L465Q	possibly damaging	Het
Plcd3	A	T	11: 103,080,400	I110N	possibly damaging	Het
Prx	A	G	7: 27,518,243	E862G	probably benign	Het
Rad50	G	A	11: 53,707,185		probably benign	Het
Rbm15	A	G	3: 107,330,833	S750P	probably benign	Het
Reln	C	A	5: 22,344,369	A14S	unknown	Het
Rph3a	T	C	5: 120,954,422	Y372C	probably damaging	Het
Serpine2	T	A	1: 79,799,539	H187L	possibly damaging	Het
Slc11a2	T	C	15: 100,401,323	D122G	probably damaging	Het
Slc25a32	A	T	15: 39,096,055	V289E	probably damaging	Het
Slc25a46	A	T	18: 31,602,761	S142T	probably benign	Het
Srm	A	G	4: 148,591,504		probably null	Het
Srsf5	A	G	12: 80,949,096	D123G	probably damaging	Het
Stab1	A	T	14: 31,154,872	C832S	probably damaging	Het
Stab2	A	C	10: 86,934,840		probably benign	Het
Suds3	T	C	5: 117,094,953	N282S	probably damaging	Het
Taar9	A	T	10: 24,109,254	V94E	probably damaging	Het
Taf2	C	A	15: 55,052,247	A428S	probably benign	Het
Tbk1	G	T	10: 121,557,259	T462K	probably benign	Het
Tcaf2	T	G	6: 42,629,431	I530L	possibly damaging	Het
Tigd4	A	G	3: 84,593,914	Y46C	probably damaging	Het
Topors	G	T	4: 40,261,714	Y523*	probably null	Het
Tpte	T	C	8: 22,333,160		probably benign	Het
Trpv5	T	A	6: 41,674,350	Q254L	probably damaging	Het
Trpv6	G	A	6: 41,624,616	Q457*	probably null	Het
Ush2a	A	T	1: 188,267,107	M205L	probably benign	Het
Vmn1r90	A	T	7: 14,561,718	Y152N	probably damaging	Het
Vmn2r124	T	A	17: 18,074,018	V789D	probably damaging	Het
Vmn2r99	T	C	17: 19,378,708	I218T	probably damaging	Het
Vstm2b	T	C	7: 40,902,875	V248A	probably benign	Het
Wnk2	T	C	13: 49,071,029	K1019E	probably damaging	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zfp229	T	A	17: 21,745,587	F266Y	possibly damaging	Het
Zfp616	T	A	11: 74,084,268	C454*	probably null	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
IGL02738:Chd6	APN	2	160965698	missense	probably benign	0.45
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
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
Z1088:Chd6	UTSW	2	160966488	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-11