Mutagenetix > Incidental Mutation

Incidental Mutation 'R8261:Chd6'

639904

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

6330406J24Rik, 5430439G14Rik

MMRRC Submission

067686-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R8261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160946978-161109075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 160957082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 2361 (L2361P)

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: L2361P

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

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: L2361P

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (76/76)

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
1700017D01Rik	T	A	19: 11,110,343 (GRCm38)	S75C	probably damaging	Het
4933412E24Rik	T	C	15: 60,016,576 (GRCm38)	E5G	probably benign	Het
5730559C18Rik	T	A	1: 136,225,477 (GRCm38)	N226Y	probably damaging	Het
Adam23	T	C	1: 63,528,798 (GRCm38)	V202A	noncoding transcript	Het
Adamtsl1	A	C	4: 86,276,883 (GRCm38)	E512D	probably damaging	Het
Ahnak	A	T	19: 9,005,453 (GRCm38)	D1367V	probably damaging	Het
Angpt4	A	T	2: 151,927,164 (GRCm38)	Q198L	probably benign	Het
Apcdd1	T	A	18: 62,933,903 (GRCm38)	H29Q	possibly damaging	Het
Cdh16	T	A	8: 104,615,179 (GRCm38)	K755*	probably null	Het
Cdk6	T	G	5: 3,390,685 (GRCm38)	F80V	probably benign	Het
Chd1	T	C	17: 17,387,542 (GRCm38)	S451P	probably benign	Het
Chst8	A	G	7: 34,748,154 (GRCm38)	M13T	possibly damaging	Het
Cntnap2	T	C	6: 47,095,693 (GRCm38)	L1065P	probably damaging	Het
Dctn4	T	C	18: 60,526,271 (GRCm38)	V14A	possibly damaging	Het
Dicer1	A	T	12: 104,691,606 (GRCm38)	V1903D	probably damaging	Het
E2f2	A	G	4: 136,184,480 (GRCm38)		silent	Het
Eif4g3	T	A	4: 138,171,118 (GRCm38)	S902T	possibly damaging	Het
Emid1	G	T	11: 5,134,353 (GRCm38)	A152D	probably benign	Het
Fer1l6	T	A	15: 58,560,496 (GRCm38)	N297K	possibly damaging	Het
Fes	T	C	7: 80,383,154 (GRCm38)	D281G	probably null	Het
Frmpd2	T	C	14: 33,502,977 (GRCm38)	V133A	probably benign	Het
Fry	A	G	5: 150,445,907 (GRCm38)	Y2282C	probably damaging	Het
Gm10377	C	T	14: 42,794,707 (GRCm38)		probably null	Het
Gm1527	A	G	3: 28,920,600 (GRCm38)	T521A	probably damaging	Het
Gpr141	T	A	13: 19,751,843 (GRCm38)	H254L	probably benign	Het
Gpr160	A	G	3: 30,895,947 (GRCm38)	E56G	probably benign	Het
Grid2ip	T	G	5: 143,381,940 (GRCm38)		probably null	Het
Grin2a	A	G	16: 9,663,518 (GRCm38)	F473S	probably damaging	Het
Igkv1-131	T	C	6: 67,766,118 (GRCm38)	T94A	probably damaging	Het
Iqgap2	A	G	13: 95,635,570 (GRCm38)	L1367P	probably damaging	Het
Kdm5d	T	A	Y: 936,929 (GRCm38)	M856K	probably damaging	Het
Kirrel	T	C	3: 87,088,002 (GRCm38)		probably benign	Het
Lad1	T	C	1: 135,827,762 (GRCm38)	S259P	probably damaging	Het
Lalba	A	T	15: 98,482,111 (GRCm38)	F86Y	possibly damaging	Het
Lrfn5	G	A	12: 61,839,537 (GRCm38)	C37Y	probably damaging	Het
Man2c1	A	G	9: 57,139,658 (GRCm38)	T665A	probably benign	Het
Myh11	T	C	16: 14,224,003 (GRCm38)	I719V		Het
Nbl1	A	T	4: 139,085,521 (GRCm38)	C34S	probably damaging	Het
Ncapg	T	A	5: 45,687,388 (GRCm38)	I575N	possibly damaging	Het
Nlgn1	T	C	3: 25,433,652 (GRCm38)	T840A	possibly damaging	Het
Nrd1	T	C	4: 109,016,679 (GRCm38)	S231P	possibly damaging	Het
Nrg2	T	C	18: 36,032,375 (GRCm38)	K395E	probably benign	Het
Nrip1	A	T	16: 76,292,061 (GRCm38)	N869K	possibly damaging	Het
Olfr1259	A	G	2: 89,943,372 (GRCm38)	F248L	probably benign	Het
Olfr237-ps1	T	A	6: 43,153,308 (GRCm38)	M1K	probably null	Het
Olfr285	A	T	15: 98,312,665 (GRCm38)	M295K	probably benign	Het
Otub2	G	T	12: 103,402,902 (GRCm38)		probably null	Het
Paxbp1	T	C	16: 91,037,415 (GRCm38)	D161G	probably benign	Het
Pcnx3	C	T	19: 5,665,384 (GRCm38)	G1946E	probably damaging	Het
Per2	T	A	1: 91,433,448 (GRCm38)	Q495L	possibly damaging	Het
Plxna2	T	A	1: 194,749,416 (GRCm38)	V571E	probably damaging	Het
Prr7	C	A	13: 55,472,922 (GRCm38)	P248T	possibly damaging	Het
Ptprr	A	T	10: 116,237,264 (GRCm38)	T464S	possibly damaging	Het
Rapgef2	A	G	3: 79,086,018 (GRCm38)	V721A	probably benign	Het
Rfx1	A	T	8: 84,092,850 (GRCm38)	Y625F	probably benign	Het
Rps6kb2	G	T	19: 4,161,196 (GRCm38)	A110D	possibly damaging	Het
Setdb2	A	T	14: 59,413,692 (GRCm38)		probably benign	Het
Slc25a31	T	C	3: 40,724,920 (GRCm38)	I272T	probably damaging	Het
Smpd1	T	C	7: 105,555,313 (GRCm38)	V133A	probably benign	Het
Sorl1	T	C	9: 42,014,481 (GRCm38)	D1185G	probably damaging	Het
Spag6	T	A	2: 18,745,490 (GRCm38)	L449H	probably benign	Het
Sptb	C	A	12: 76,621,262 (GRCm38)	R687L	probably benign	Het
Sptbn5	A	T	2: 120,047,135 (GRCm38)	V1012E	noncoding transcript	Het
Tmem192	A	G	8: 64,964,320 (GRCm38)	I188V	probably benign	Het
Tmem253	G	A	14: 52,019,251 (GRCm38)	V194M	probably benign	Het
Tph1	A	G	7: 46,653,749 (GRCm38)		silent	Het
Trak1	A	G	9: 121,451,667 (GRCm38)	E374G	probably damaging	Het
Trpv1	A	T	11: 73,254,767 (GRCm38)		probably null	Het
Trub2	T	C	2: 29,777,713 (GRCm38)	H305R	probably benign	Het
Ttn	A	G	2: 76,917,424 (GRCm38)	V4427A	probably benign	Het
Vasn	A	G	16: 4,648,296 (GRCm38)	T36A	probably damaging	Het
Vmn1r8	A	T	6: 57,036,173 (GRCm38)	I70F	probably benign	Het
Vps13c	A	T	9: 67,954,980 (GRCm38)	I2960L	probably damaging	Het
Zdhhc4	C	A	5: 143,321,833 (GRCm38)	M144I	probably benign	Het
Zfp273	T	A	13: 67,825,951 (GRCm38)	N399K	probably benign	Het
Zfp976	T	A	7: 42,612,701 (GRCm38)	T572S	unknown	Het
Zmym4	A	G	4: 126,904,567 (GRCm38)	C756R	probably 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
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
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
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'- AGGGGTGAACTTAAGTCTGTTC -3'
(R):5'- AGGAACTCACTTCGTCCTGC -3'

Sequencing Primer
(F):5'- GCTCTTGCAATTTTGATTATTGGAG -3'
(R):5'- ACTTCGTCCTGCCATCATTATTAC -3'

Posted On

2020-07-28