Mutagenetix > Incidental Mutation

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

Essential gene?

Probably essential (E-score: 0.755) 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 (GRCm38)

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]

AlphaFold

no structure available at present

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 (GRCm38)		probably benign	Het
Actn1	A	T	12: 80,192,389 (GRCm38)	H247Q	probably damaging	Het
Adgre1	T	C	17: 57,410,956 (GRCm38)	C323R	probably damaging	Het
Adgrf2	T	A	17: 42,710,407 (GRCm38)	I509F	probably damaging	Het
Aknad1	A	T	3: 108,756,468 (GRCm38)	T331S	probably damaging	Het
Aldh1a3	T	C	7: 66,422,299 (GRCm38)	D39G	probably benign	Het
Alms1	C	A	6: 85,667,963 (GRCm38)		probably benign	Het
Ankhd1	T	G	18: 36,578,543 (GRCm38)		probably null	Het
Arfgef2	T	C	2: 166,881,244 (GRCm38)	S1535P	probably benign	Het
BC027072	C	T	17: 71,751,647 (GRCm38)	S345N	probably damaging	Het
Bicc1	T	C	10: 70,930,644 (GRCm38)	E916G	probably damaging	Het
Birc2	A	T	9: 7,821,179 (GRCm38)	D381E	possibly damaging	Het
Btbd11	T	A	10: 85,651,611 (GRCm38)	V981D	probably damaging	Het
Carnmt1	A	G	19: 18,693,711 (GRCm38)	I316V	probably benign	Het
Coq7	A	T	7: 118,510,148 (GRCm38)	W226R	unknown	Het
Cyp2d9	G	A	15: 82,454,518 (GRCm38)		probably null	Het
Ddx42	T	A	11: 106,245,329 (GRCm38)	N635K	probably damaging	Het
Dmtf1	T	C	5: 9,129,323 (GRCm38)	T292A	possibly damaging	Het
Dnajb8	T	C	6: 88,222,875 (GRCm38)	V131A	probably benign	Het
Dock6	T	C	9: 21,816,333 (GRCm38)	E1367G	possibly damaging	Het
Dvl1	T	A	4: 155,855,543 (GRCm38)	Y377*	probably null	Het
Eif4g3	T	A	4: 138,097,318 (GRCm38)	F278Y	probably benign	Het
Fancg	A	T	4: 43,008,787 (GRCm38)	L150H	probably damaging	Het
Fastkd5	T	C	2: 130,616,194 (GRCm38)	T159A	possibly damaging	Het
Fkrp	G	T	7: 16,810,952 (GRCm38)	Y328*	probably null	Het
Fmo3	A	T	1: 162,958,305 (GRCm38)	V372D	probably damaging	Het
Gm10639	T	G	9: 78,304,439 (GRCm38)	L161R	probably damaging	Het
Gm12184	A	G	11: 48,826,123 (GRCm38)	I76T	probably damaging	Het
Gm5065	A	T	7: 5,359,834 (GRCm38)	I155F	probably damaging	Het
Gtf2h4	C	A	17: 35,670,909 (GRCm38)	G143W	probably damaging	Het
Hivep2	C	A	10: 14,128,969 (GRCm38)	T437K	probably benign	Het
Hmcn1	A	T	1: 150,773,820 (GRCm38)	Y638*	probably null	Het
Ighv11-2	T	A	12: 114,048,292 (GRCm38)	Q101L	probably damaging	Het
Lipf	G	T	19: 33,965,525 (GRCm38)	V78L	probably damaging	Het
Magi3	T	C	3: 104,015,765 (GRCm38)	E1212G	probably benign	Het
Mfap5	T	C	6: 122,525,989 (GRCm38)	S75P	probably damaging	Het
Mn1	C	A	5: 111,418,552 (GRCm38)	H129Q	possibly damaging	Het
Morc3	A	G	16: 93,862,539 (GRCm38)		probably null	Het
Mrc2	G	A	11: 105,348,431 (GRCm38)		probably null	Het
Myo5c	A	G	9: 75,250,436 (GRCm38)	I224V	probably damaging	Het
Nupl1	T	C	14: 60,223,359 (GRCm38)	T486A	probably benign	Het
Olfr1026	A	G	2: 85,923,607 (GRCm38)	Y113C	probably damaging	Het
Olfr910	T	A	9: 38,538,985 (GRCm38)	V30D	probably damaging	Het
Parp14	A	T	16: 35,858,203 (GRCm38)	L465Q	possibly damaging	Het
Plcd3	A	T	11: 103,080,400 (GRCm38)	I110N	possibly damaging	Het
Prx	A	G	7: 27,518,243 (GRCm38)	E862G	probably benign	Het
Rad50	G	A	11: 53,707,185 (GRCm38)		probably benign	Het
Rbm15	A	G	3: 107,330,833 (GRCm38)	S750P	probably benign	Het
Reln	C	A	5: 22,344,369 (GRCm38)	A14S	unknown	Het
Rph3a	T	C	5: 120,954,422 (GRCm38)	Y372C	probably damaging	Het
Serpine2	T	A	1: 79,799,539 (GRCm38)	H187L	possibly damaging	Het
Slc11a2	T	C	15: 100,401,323 (GRCm38)	D122G	probably damaging	Het
Slc25a32	A	T	15: 39,096,055 (GRCm38)	V289E	probably damaging	Het
Slc25a46	A	T	18: 31,602,761 (GRCm38)	S142T	probably benign	Het
Srm	A	G	4: 148,591,504 (GRCm38)		probably null	Het
Srsf5	A	G	12: 80,949,096 (GRCm38)	D123G	probably damaging	Het
Stab1	A	T	14: 31,154,872 (GRCm38)	C832S	probably damaging	Het
Stab2	A	C	10: 86,934,840 (GRCm38)		probably benign	Het
Suds3	T	C	5: 117,094,953 (GRCm38)	N282S	probably damaging	Het
Taar9	A	T	10: 24,109,254 (GRCm38)	V94E	probably damaging	Het
Taf2	C	A	15: 55,052,247 (GRCm38)	A428S	probably benign	Het
Tbk1	G	T	10: 121,557,259 (GRCm38)	T462K	probably benign	Het
Tcaf2	T	G	6: 42,629,431 (GRCm38)	I530L	possibly damaging	Het
Tigd4	A	G	3: 84,593,914 (GRCm38)	Y46C	probably damaging	Het
Topors	G	T	4: 40,261,714 (GRCm38)	Y523*	probably null	Het
Tpte	T	C	8: 22,333,160 (GRCm38)		probably benign	Het
Trpv5	T	A	6: 41,674,350 (GRCm38)	Q254L	probably damaging	Het
Trpv6	G	A	6: 41,624,616 (GRCm38)	Q457*	probably null	Het
Ush2a	A	T	1: 188,267,107 (GRCm38)	M205L	probably benign	Het
Vmn1r90	A	T	7: 14,561,718 (GRCm38)	Y152N	probably damaging	Het
Vmn2r124	T	A	17: 18,074,018 (GRCm38)	V789D	probably damaging	Het
Vmn2r99	T	C	17: 19,378,708 (GRCm38)	I218T	probably damaging	Het
Vstm2b	T	C	7: 40,902,875 (GRCm38)	V248A	probably benign	Het
Wnk2	T	C	13: 49,071,029 (GRCm38)	K1019E	probably damaging	Het
Zfhx4	C	T	3: 5,403,358 (GRCm38)	P2859S	probably benign	Het
Zfp229	T	A	17: 21,745,587 (GRCm38)	F266Y	possibly damaging	Het
Zfp616	T	A	11: 74,084,268 (GRCm38)	C454*	probably null	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
IGL02313:Chd6	APN	2	160,965,675 (GRCm38)	missense	probably damaging	1.00
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
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

Predicted Primers

Posted On

2017-05-11