Mutagenetix > Incidental Mutation

Incidental Mutation 'R7064:Chd6'

548430

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

6330406J24Rik, 5430439G14Rik

MMRRC Submission

045160-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R7064 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

160946978-161109075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160950063 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2458 (D2458G)

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: D2458G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: D2458G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,531,712 (GRCm38)	I263T	probably damaging	Het
Adamtsl1	C	T	4: 86,342,041 (GRCm38)	P830S	possibly damaging	Het
Adrb1	T	C	19: 56,723,024 (GRCm38)	F218S	probably damaging	Het
Ahnak2	T	C	12: 112,780,742 (GRCm38)		probably benign	Het
Arsj	T	A	3: 126,438,337 (GRCm38)	V244E	probably damaging	Het
Atm	T	C	9: 53,507,881 (GRCm38)	E757G	probably benign	Het
AU040320	A	G	4: 126,792,072 (GRCm38)	D147G	probably benign	Het
Btnl10	A	T	11: 58,919,308 (GRCm38)	M92L	possibly damaging	Het
Cntn3	T	C	6: 102,273,811 (GRCm38)	I259V	probably damaging	Het
Ctns	A	G	11: 73,186,392 (GRCm38)	V250A	probably benign	Het
Cxxc1	T	A	18: 74,220,607 (GRCm38)		probably null	Het
Cyp2a4	A	T	7: 26,312,307 (GRCm38)	M318L	probably benign	Het
Dchs1	A	G	7: 105,763,185 (GRCm38)	L1302P	probably damaging	Het
Decr1	C	A	4: 15,945,392 (GRCm38)			Het
Dmbx1	T	C	4: 115,918,268 (GRCm38)	N272D	probably damaging	Het
Dsel	C	A	1: 111,862,847 (GRCm38)		probably benign	Het
Dspp	A	C	5: 104,176,938 (GRCm38)	D389A	possibly damaging	Het
Ero1l	T	C	14: 45,306,592 (GRCm38)	T52A	probably damaging	Het
Fam186a	T	C	15: 99,941,676 (GRCm38)	E2229G	unknown	Het
Fam208a	C	T	14: 27,472,331 (GRCm38)	P1163S	probably benign	Het
Gabrd	C	T	4: 155,388,346 (GRCm38)	V127M	probably damaging	Het
Gpc2	A	T	5: 138,278,910 (GRCm38)	F85Y	probably damaging	Het
Gucy2g	A	G	19: 55,210,332 (GRCm38)	L793S	probably benign	Het
Itpr3	G	C	17: 27,089,295 (GRCm38)	G298R	probably damaging	Het
Kalrn	A	T	16: 34,217,891 (GRCm38)	C1024S	probably damaging	Het
Krt40	T	C	11: 99,540,128 (GRCm38)	Y185C	probably benign	Het
Lmo7	G	A	14: 101,884,179 (GRCm38)	D227N	probably damaging	Het
Mmrn1	T	A	6: 60,988,540 (GRCm38)	L1184*	probably null	Het
Mrvi1	C	G	7: 110,895,854 (GRCm38)	E455Q	probably damaging	Het
Olfr113	T	A	17: 37,574,743 (GRCm38)	R227W	probably damaging	Het
Olfr1211	T	A	2: 88,929,509 (GRCm38)	M269L	probably benign	Het
Olfr982	T	A	9: 40,074,813 (GRCm38)	Y173N	probably damaging	Het
Parp9	T	G	16: 35,953,672 (GRCm38)	V338G	probably benign	Het
Pcdh15	G	A	10: 74,630,614 (GRCm38)	E888K	possibly damaging	Het
Pcdh9	C	T	14: 93,886,149 (GRCm38)	E862K	probably damaging	Het
Prkdc	A	G	16: 15,790,453 (GRCm38)	T3040A	probably benign	Het
Qser1	T	C	2: 104,787,119 (GRCm38)	E1026G	probably damaging	Het
Rnf20	C	T	4: 49,644,580 (GRCm38)	R282*	probably null	Het
Rpgrip1l	T	A	8: 91,263,520 (GRCm38)	K765*	probably null	Het
Rprd2	G	A	3: 95,765,016 (GRCm38)	T1025M	probably damaging	Het
Scn4a	A	G	11: 106,322,157 (GRCm38)	Y1341H	possibly damaging	Het
Scn5a	C	G	9: 119,489,911 (GRCm38)	D1554H	probably damaging	Het
Sept14	T	C	5: 129,697,806 (GRCm38)	I102V	probably benign	Het
Sept4	A	G	11: 87,590,367 (GRCm38)	T378A	probably benign	Het
Siglec1	C	T	2: 131,083,914 (GRCm38)	G291R	probably benign	Het
Sik2	A	G	9: 50,907,420 (GRCm38)	V418A	probably damaging	Het
Slc9a5	A	G	8: 105,349,446 (GRCm38)	T24A	possibly damaging	Het
Spata31d1b	T	C	13: 59,716,141 (GRCm38)	S368P	probably benign	Het
Stip1	T	C	19: 7,035,557 (GRCm38)	D53G	probably benign	Het
Stk36	T	C	1: 74,610,820 (GRCm38)	W245R	probably damaging	Het
Stk39	A	T	2: 68,358,812 (GRCm38)		probably null	Het
Tacr2	T	C	10: 62,261,497 (GRCm38)	M252T	probably damaging	Het
Terb1	A	T	8: 104,488,554 (GRCm38)	N263K	probably benign	Het
Tgm5	T	C	2: 121,053,514 (GRCm38)	M333V	probably benign	Het
Tmem45a	T	C	16: 56,822,404 (GRCm38)	M135V	probably benign	Het
Trmt13	T	A	3: 116,582,697 (GRCm38)	K348N	probably damaging	Het
Trmt2a	A	T	16: 18,253,004 (GRCm38)	M534L	probably damaging	Het
Ttll13	G	A	7: 80,257,030 (GRCm38)	R513K	probably null	Het
Vmn1r228	T	A	17: 20,777,023 (GRCm38)	I78L	probably benign	Het
Washc3	T	C	10: 88,245,773 (GRCm38)	V173A	possibly damaging	Het
Zc2hc1b	A	T	10: 13,171,305 (GRCm38)	C21S	probably damaging	Het
Zfp944	T	A	17: 22,339,579 (GRCm38)	H229L	probably damaging	Het
Zfp985	T	A	4: 147,583,116 (GRCm38)	I147N	probably benign	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
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
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

PCR Primer
(F):5'- TGCTCAGGGTGTTCTTAACCTC -3'
(R):5'- ACAGGAGCTACTCTGACCTC -3'

Sequencing Primer
(F):5'- TCTTCACCCGTGGGCATG -3'
(R):5'- CTATGCCAGGACACAGCTGTAG -3'

Posted On

2019-05-13