Mutagenetix > Incidental Mutation

Incidental Mutation 'R1648:Chd6'

173999

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

6330406J24Rik, 5430439G14Rik

MMRRC Submission

039684-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R1648 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160946978-161109075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 161042058 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 89 (L89S)

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 damaging
Transcript: ENSMUST00000039782
AA Change: L209S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: L209S

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: ENSMUST00000125179

Predicted Effect

probably damaging
Transcript: ENSMUST00000130265
AA Change: L89S

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

SMART Domains

Protein: ENSMUSP00000117075
Gene: ENSMUSG00000057133
AA Change: L89S

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
AA Change: L208S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000123240
Gene: ENSMUSG00000057133
AA Change: L208S

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

Meta Mutation Damage Score

0.0701

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.4%

Validation Efficiency

95% (73/77)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,069,420 (GRCm38)	N1457D	probably benign	Het
Adgb	A	G	10: 10,395,371 (GRCm38)	F817L	probably damaging	Het
Akap6	A	T	12: 53,142,006 (GRCm38)	K2068*	probably null	Het
Alms1	T	C	6: 85,678,402 (GRCm38)	L3310P	probably damaging	Het
Ankrd27	T	A	7: 35,603,853 (GRCm38)	D219E	probably benign	Het
Atp10a	T	C	7: 58,784,827 (GRCm38)	V283A	probably damaging	Het
Atp11a	C	T	8: 12,847,495 (GRCm38)	S270L	probably damaging	Het
Casp3	T	C	8: 46,638,074 (GRCm38)	S254P	probably benign	Het
Cep104	G	A	4: 153,979,096 (GRCm38)		probably null	Het
Cep170b	C	T	12: 112,736,372 (GRCm38)	T423I	probably damaging	Het
Cfap58	A	G	19: 47,955,405 (GRCm38)	E348G	probably benign	Het
Cyp2a22	T	C	7: 26,932,368 (GRCm38)	S488G	probably damaging	Het
D130040H23Rik	C	A	8: 69,302,981 (GRCm38)	H363Q	probably benign	Het
Dcaf7	T	A	11: 106,051,802 (GRCm38)	F192I	probably damaging	Het
Ddx20	T	C	3: 105,679,188 (GRCm38)	I614V	probably benign	Het
Ehbp1	G	A	11: 22,096,000 (GRCm38)	T558I	probably damaging	Het
Eif2ak3	T	A	6: 70,883,631 (GRCm38)	V397D	possibly damaging	Het
Eif2b5	T	C	16: 20,502,585 (GRCm38)	V296A	possibly damaging	Het
Esr1	A	G	10: 5,001,260 (GRCm38)	E546G	possibly damaging	Het
Fras1	T	A	5: 96,726,613 (GRCm38)		probably null	Het
G930045G22Rik	T	C	6: 50,846,718 (GRCm38)		noncoding transcript	Het
Gemin5	A	T	11: 58,147,979 (GRCm38)	L568*	probably null	Het
Gm22697+Rbm27	AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC	AGGTCCCGGCCCAGGCCC	18: 42,301,883 (GRCm38)		probably benign	Het
Gpr155	T	C	2: 73,364,164 (GRCm38)		probably null	Het
Has1	A	G	17: 17,849,985 (GRCm38)	Y225H	probably damaging	Het
Hk3	A	G	13: 55,014,461 (GRCm38)	F110S	probably damaging	Het
Iars	A	G	13: 49,723,002 (GRCm38)	K848E	possibly damaging	Het
Kif17	A	G	4: 138,269,895 (GRCm38)	Y43C	probably damaging	Het
Kif20b	A	T	19: 34,936,790 (GRCm38)	T355S	possibly damaging	Het
Kif21a	T	C	15: 90,994,367 (GRCm38)	T237A	probably damaging	Het
Klc1	T	C	12: 111,776,887 (GRCm38)	L216P	probably damaging	Het
Krt7	A	C	15: 101,412,567 (GRCm38)	S32R	probably damaging	Het
Lama3	A	G	18: 12,532,199 (GRCm38)	D2330G	possibly damaging	Het
Limch1	T	A	5: 66,999,256 (GRCm38)	S511R	probably damaging	Het
Luzp2	T	A	7: 55,264,270 (GRCm38)		probably null	Het
Macc1	T	C	12: 119,446,421 (GRCm38)	M308T	probably benign	Het
Mroh9	T	G	1: 163,046,056 (GRCm38)	E510A	probably damaging	Het
Myo1h	G	T	5: 114,336,275 (GRCm38)	L458F	probably damaging	Het
Neto1	A	T	18: 86,500,054 (GRCm38)	Y528F	probably damaging	Het
Nlrp9b	T	A	7: 20,026,544 (GRCm38)	C187S	possibly damaging	Het
Nup160	T	C	2: 90,710,088 (GRCm38)	Y854H	probably damaging	Het
Odc1	T	C	12: 17,548,537 (GRCm38)		probably benign	Het
Olfr1436	T	A	19: 12,298,659 (GRCm38)	I158L	probably benign	Het
Olfr519	A	G	7: 108,893,765 (GRCm38)	I214T	probably damaging	Het
Olfr642	A	G	7: 104,050,169 (GRCm38)	Y62H	probably damaging	Het
Plcb2	A	T	2: 118,723,780 (GRCm38)	M64K	possibly damaging	Het
Plcxd3	A	T	15: 4,375,809 (GRCm38)	I33F	probably benign	Het
Postn	A	G	3: 54,376,101 (GRCm38)	T534A	probably damaging	Het
Prkd2	T	A	7: 16,857,807 (GRCm38)	F588I	possibly damaging	Het
Prrg4	C	A	2: 104,832,743 (GRCm38)	A173S	probably benign	Het
Rinl	C	T	7: 28,797,632 (GRCm38)	A519V	probably damaging	Het
Rpgrip1l	A	C	8: 91,252,889 (GRCm38)	V975G	probably damaging	Het
Rps6ka4	C	A	19: 6,839,362 (GRCm38)	V118L	probably benign	Het
Rtkn	T	C	6: 83,135,994 (GRCm38)	S16P	probably damaging	Het
Sbspon	C	A	1: 15,883,759 (GRCm38)	R99L	probably damaging	Het
Sdf4	G	A	4: 155,999,429 (GRCm38)	A119T	probably damaging	Het
Sgpp1	T	A	12: 75,716,216 (GRCm38)	H397L	possibly damaging	Het
Shc2	T	A	10: 79,626,111 (GRCm38)	M367L	probably benign	Het
Slc26a5	T	A	5: 21,813,976 (GRCm38)	K590*	probably null	Het
Slc39a12	T	C	2: 14,451,992 (GRCm38)	V597A	probably benign	Het
Smcp	A	T	3: 92,584,481 (GRCm38)	C20S	unknown	Het
Tdrd6	A	C	17: 43,627,109 (GRCm38)	V1016G	possibly damaging	Het
Tmem132c	T	A	5: 127,463,056 (GRCm38)		probably benign	Het
Tmem170b	A	T	13: 41,606,262 (GRCm38)	Q16L	probably null	Het
Tmem30a	A	G	9: 79,793,029 (GRCm38)	F61S	probably damaging	Het
Tnfsf13b	T	C	8: 10,031,534 (GRCm38)	M232T	probably damaging	Het
Trip11	T	A	12: 101,884,392 (GRCm38)	K853*	probably null	Het
Tusc3	C	A	8: 39,046,567 (GRCm38)	S64*	probably null	Het
Vmn2r111	A	T	17: 22,569,061 (GRCm38)	D436E	probably benign	Het
Zfp607a	T	C	7: 27,879,068 (GRCm38)	V521A	probably benign	Het
Zfp704	A	T	3: 9,471,039 (GRCm38)	S140R	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
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
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'- ATACCCTGGCCTAGCACTTAGAGC -3'
(R):5'- TGGCACAAGTCCACATTGGTCCTG -3'

Sequencing Primer
(F):5'- aatgtattatcaGACTGGAAAAGGC -3'
(R):5'- ATGTCTTGTAGCAGGGAGCA -3'

Posted On

2014-04-24