Mutagenetix > Incidental Mutation

Incidental Mutation 'R6869:Chd6'

536066

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

6330406J24Rik, 5430439G14Rik

MMRRC Submission

044966-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R6869 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160946978-161109075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160965730 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1855 (S1855G)

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: S1855G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: S1855G

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: 99.4%
20x: 98.2%

Validation Efficiency

97% (61/63)

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
Ankdd1b	A	T	13: 96,444,291 (GRCm38)	N166K	possibly damaging	Het
Arhgap30	G	T	1: 171,409,055 (GRCm38)	R999L	probably damaging	Het
Bnc2	T	A	4: 84,293,496 (GRCm38)	D212V	probably damaging	Het
Bpifb5	T	C	2: 154,233,223 (GRCm38)	I357T	probably benign	Het
Catsperb	T	C	12: 101,480,737 (GRCm38)	F208S	probably benign	Het
Cc2d2b	T	A	19: 40,809,454 (GRCm38)	H1105Q	probably benign	Het
Chchd6	T	C	6: 89,595,496 (GRCm38)	D17G	probably damaging	Het
Cpe	A	G	8: 64,619,427 (GRCm38)	V143A	probably benign	Het
Cyfip1	T	A	7: 55,907,365 (GRCm38)	V770D	possibly damaging	Het
Cyp1a1	A	T	9: 57,702,784 (GRCm38)	M494L	probably benign	Het
Dcstamp	T	C	15: 39,754,458 (GRCm38)	S88P	probably damaging	Het
Dnah2	T	A	11: 69,429,471 (GRCm38)	N3924I	probably damaging	Het
F830045P16Rik	T	C	2: 129,474,561 (GRCm38)	E76G	probably damaging	Het
Fam91a1	T	A	15: 58,431,268 (GRCm38)	V342E	probably benign	Het
Fastkd1	G	A	2: 69,702,760 (GRCm38)	A421V	probably benign	Het
Fgf20	T	C	8: 40,281,148 (GRCm38)	Y64C	probably damaging	Het
Gen1	A	T	12: 11,241,441 (GRCm38)	N847K	probably benign	Het
Gm438	A	T	4: 144,780,472 (GRCm38)		probably null	Het
Gm4922	A	T	10: 18,784,515 (GRCm38)	I153K	probably damaging	Het
Gm6619	T	C	6: 131,486,438 (GRCm38)	I6T	unknown	Het
H2-Ab1	T	C	17: 34,267,563 (GRCm38)	Y199H	probably damaging	Het
Hdac7	C	A	15: 97,796,176 (GRCm38)	L737F	probably damaging	Het
Hells	A	G	19: 38,940,635 (GRCm38)	N121D	probably benign	Het
Itga2	G	A	13: 114,875,537 (GRCm38)		probably null	Het
Itgb1	A	G	8: 128,720,035 (GRCm38)	D391G	probably benign	Het
Lama5	G	A	2: 180,191,662 (GRCm38)	P1519L	probably damaging	Het
Lbx1	T	A	19: 45,234,951 (GRCm38)	S93C	probably damaging	Het
Lmod2	T	C	6: 24,604,127 (GRCm38)	M367T	probably benign	Het
Lrrc43	G	A	5: 123,504,276 (GRCm38)		probably null	Het
Man2a2	C	T	7: 80,362,945 (GRCm38)	G574D	probably benign	Het
Mier2	T	G	10: 79,542,669 (GRCm38)	K343T	probably damaging	Het
Msh5	A	T	17: 35,041,834 (GRCm38)		probably null	Het
Mtus1	T	C	8: 41,082,654 (GRCm38)	Q675R	possibly damaging	Het
Ncan	A	T	8: 70,107,907 (GRCm38)	H803Q	probably benign	Het
Nckap5l	A	G	15: 99,426,453 (GRCm38)	V723A	probably damaging	Het
Nectin3	G	A	16: 46,395,143 (GRCm38)	R79C	probably damaging	Het
Nlrc5	A	G	8: 94,521,955 (GRCm38)	E1735G	probably benign	Het
Nrros	A	G	16: 32,144,431 (GRCm38)	L220S	probably damaging	Het
Olfr1107	T	A	2: 87,071,673 (GRCm38)	I154F	probably benign	Het
Olfr584	G	A	7: 103,085,868 (GRCm38)	V112M	possibly damaging	Het
Oxa1l	C	T	14: 54,366,738 (GRCm38)	P152S	probably damaging	Het
Pdcd6ip	A	G	9: 113,655,106 (GRCm38)	Y818H	unknown	Het
Pik3cb	A	T	9: 99,060,259 (GRCm38)	S682T	probably benign	Het
Ppp1r3a	A	C	6: 14,754,826 (GRCm38)	S141A	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061 (GRCm38)		probably benign	Het
Ptprk	T	C	10: 28,473,059 (GRCm38)		probably null	Het
Ranbp17	T	C	11: 33,513,074 (GRCm38)		probably benign	Het
Rcbtb1	T	C	14: 59,217,602 (GRCm38)	V95A	probably benign	Het
Retreg3	G	A	11: 101,119,818 (GRCm38)		probably benign	Het
Rhobtb1	T	C	10: 69,270,226 (GRCm38)	L207P	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,579,906 (GRCm38)		probably benign	Het
Sh3bgr	A	G	16: 96,206,660 (GRCm38)	Y75C	probably damaging	Het
Strip1	T	C	3: 107,613,445 (GRCm38)	D763G	probably damaging	Het
Stxbp5l	A	T	16: 37,204,448 (GRCm38)	V596E	possibly damaging	Het
Tas2r138	A	G	6: 40,612,421 (GRCm38)	I297T	probably damaging	Het
Topors	A	C	4: 40,261,201 (GRCm38)	N694K	unknown	Het
Tymp	T	C	15: 89,376,691 (GRCm38)	R20G	probably benign	Het
Ubr4	A	G	4: 139,467,227 (GRCm38)	T1144A	possibly damaging	Het
Unc79	A	T	12: 103,113,072 (GRCm38)	Q1636L	probably benign	Het
Vmn1r78	A	G	7: 12,152,749 (GRCm38)	M96V	probably benign	Het
Wfdc8	C	T	2: 164,599,092 (GRCm38)	D244N	possibly damaging	Het
Zbtb49	G	T	5: 38,214,350 (GRCm38)	N62K	probably damaging	Het
Zfp579	G	T	7: 4,994,461 (GRCm38)	D150E	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
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

PCR Primer
(F):5'- TCTGTGGTCCAGCAGTCTTG -3'
(R):5'- ATCTATCTCAAAAGAAGGGGAGCC -3'

Sequencing Primer
(F):5'- AGTCTTGCTCACCACCTCCAG -3'
(R):5'- CTGCTGCAGTGAGACAGGAC -3'

Posted On

2018-10-18