Mutagenetix > Incidental Mutation

Incidental Mutation 'R1973:Chd6'

221194

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

6330406J24Rik, 5430439G14Rik

MMRRC Submission

039986-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R1973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160946978-161109075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 160966387 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1636 (S1636P)

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: S1636P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: S1636P

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

noncoding transcript
Transcript: ENSMUST00000137152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143081

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	C	5: 8,812,746 (GRCm38)	I143L	probably benign	Het
Acp7	T	A	7: 28,607,989 (GRCm38)	D481V	probably damaging	Het
AI597479	T	A	1: 43,111,126 (GRCm38)	I132K	probably benign	Het
Anxa13	T	C	15: 58,356,181 (GRCm38)		noncoding transcript	Het
Brca1	A	T	11: 101,526,403 (GRCm38)	C302S	probably benign	Het
Brd8	T	A	18: 34,608,013 (GRCm38)	D420V	probably damaging	Het
Cacna1g	A	T	11: 94,459,777 (GRCm38)	V414E	possibly damaging	Het
Ccdc142	T	A	6: 83,102,563 (GRCm38)	C294S	probably benign	Het
Cdh7	G	A	1: 110,061,132 (GRCm38)	V255I	probably benign	Het
Chat	C	T	14: 32,424,191 (GRCm38)	V342I	probably benign	Het
Clec4a1	A	G	6: 122,924,834 (GRCm38)		probably null	Het
Col6a3	A	T	1: 90,804,175 (GRCm38)	I1452N	probably damaging	Het
Dennd2c	T	C	3: 103,131,698 (GRCm38)	V54A	probably benign	Het
Dnah1	C	T	14: 31,265,391 (GRCm38)	W3550*	probably null	Het
Dscr3	T	C	16: 94,501,546 (GRCm38)	N267S	probably damaging	Het
Efl1	T	C	7: 82,762,877 (GRCm38)	S825P	probably damaging	Het
Fam189a1	A	T	7: 64,775,768 (GRCm38)	I192N	possibly damaging	Het
Faxc	G	A	4: 21,993,405 (GRCm38)	E350K	probably benign	Het
Frem2	T	A	3: 53,652,232 (GRCm38)	Y1618F	probably benign	Het
Fubp3	A	G	2: 31,603,286 (GRCm38)	T6A	probably benign	Het
Gm5814	A	T	17: 47,410,549 (GRCm38)	M63L	probably benign	Het
Gpr149	T	C	3: 62,530,795 (GRCm38)	K647R	probably benign	Het
Iqgap3	T	A	3: 88,083,928 (GRCm38)		probably null	Het
Kcnh3	T	C	15: 99,229,400 (GRCm38)	V359A	probably damaging	Het
Kit	G	A	5: 75,615,442 (GRCm38)	A295T	probably damaging	Het
Krt77	G	T	15: 101,861,244 (GRCm38)	A397E	probably damaging	Het
Mis18bp1	G	C	12: 65,149,076 (GRCm38)	S638*	probably null	Het
Neurl4	C	T	11: 69,909,292 (GRCm38)	P1091S	probably benign	Het
Nod2	A	T	8: 88,652,873 (GRCm38)	M8L	probably damaging	Het
Nos1	A	G	5: 117,936,426 (GRCm38)	T1046A	possibly damaging	Het
Nsfl1c	G	T	2: 151,505,414 (GRCm38)	S202I	probably damaging	Het
Nuak2	A	T	1: 132,330,602 (GRCm38)	H257L	probably damaging	Het
Nwd1	T	C	8: 72,704,962 (GRCm38)	V1195A	possibly damaging	Het
Olfr243	T	A	7: 103,716,597 (GRCm38)	M1K	probably null	Het
Olfr370	T	C	8: 83,541,792 (GRCm38)	V216A	probably benign	Het
Olfr693	T	C	7: 106,678,219 (GRCm38)	D89G	probably benign	Het
Olfr889	T	A	9: 38,116,567 (GRCm38)	M257K	possibly damaging	Het
Olfr919	A	G	9: 38,697,868 (GRCm38)	V170A	probably damaging	Het
Pclo	G	T	5: 14,676,059 (GRCm38)		probably null	Het
Pnpla7	A	G	2: 25,016,617 (GRCm38)	D664G	probably damaging	Het
Prl8a1	G	A	13: 27,576,934 (GRCm38)	T105I	probably benign	Het
Ptger1	C	A	8: 83,669,454 (GRCm38)	T380K	probably benign	Het
Ptk7	G	A	17: 46,586,807 (GRCm38)	Q282*	probably null	Het
Ptpn18	G	T	1: 34,463,109 (GRCm38)	D45Y	probably damaging	Het
Rab11fip3	T	C	17: 26,024,391 (GRCm38)	D589G	probably damaging	Het
Rara	A	G	11: 98,971,670 (GRCm38)	N299S	possibly damaging	Het
Rpl13a	T	A	7: 45,125,995 (GRCm38)	K368*	probably null	Het
Rslcan18	T	C	13: 67,108,023 (GRCm38)		probably benign	Het
Rtel1	A	G	2: 181,351,626 (GRCm38)	Y731C	probably benign	Het
Sec16a	A	T	2: 26,426,489 (GRCm38)	S1666R	probably damaging	Het
Sis	A	G	3: 72,921,004 (GRCm38)	F1217S	probably damaging	Het
Slc10a7	T	A	8: 78,697,333 (GRCm38)		probably null	Het
Slc22a7	A	G	17: 46,437,090 (GRCm38)	V214A	probably damaging	Het
Slc26a8	T	C	17: 28,663,605 (GRCm38)	I249V	probably benign	Het
Slc38a4	T	C	15: 96,999,597 (GRCm38)	K446E	probably benign	Het
Sned1	G	A	1: 93,265,073 (GRCm38)	G361S	probably damaging	Het
Spef2	T	G	15: 9,663,066 (GRCm38)	*876C	probably null	Het
Spink11	A	G	18: 44,196,138 (GRCm38)	C14R	unknown	Het
Stk4	C	T	2: 164,100,528 (GRCm38)	T360M	probably benign	Het
Tnfaip3	T	C	10: 19,004,504 (GRCm38)	N605S	probably damaging	Het
Trpc1	A	G	9: 95,723,255 (GRCm38)	M283T	probably benign	Het
Ttn	A	G	2: 76,720,099 (GRCm38)	I31613T	probably damaging	Het
Ttn	A	G	2: 76,714,362 (GRCm38)	S32799P	probably damaging	Het
Ugt1a10	A	T	1: 88,056,047 (GRCm38)	Y189F	probably damaging	Het
Usp32	G	T	11: 85,103,931 (GRCm38)	L52I	probably benign	Het
Usp33	A	G	3: 152,360,286 (GRCm38)	T68A	possibly damaging	Het
Vmn1r7	A	G	6: 57,025,026 (GRCm38)	F83S	probably benign	Het
Vmn2r5	C	T	3: 64,504,221 (GRCm38)	E309K	probably damaging	Het
Wdr43	A	G	17: 71,640,240 (GRCm38)	N364D	probably benign	Het
Zdbf2	C	A	1: 63,309,701 (GRCm38)	P2413Q	unknown	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
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
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'- TGTTCTCCAAAGACTCAGGC -3'
(R):5'- GGGAAACATGATCGAGACCTGC -3'

Sequencing Primer
(F):5'- GACTCAGGCAGCAAGTTTTC -3'
(R):5'- ACATGATCGAGACCTGCTCATTGG -3'

Posted On

2014-08-25