Mutagenetix > Incidental Mutation

Incidental Mutation 'R6393:Chd6'

515847

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

6330406J24Rik, 5430439G14Rik

MMRRC Submission

044542-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R6393 (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 160979487 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1296 (Y1296H)

Ref Sequence

ENSEMBL: ENSMUSP00000042291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039782] [ENSMUST00000134178]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039782
AA Change: Y1296H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: Y1296H

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

probably benign
Transcript: ENSMUST00000134178

SMART Domains

Protein: ENSMUSP00000123240
Gene: ENSMUSG00000057133

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: ENSMUST00000155918

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.8%

Validation Efficiency

99% (70/71)

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
A130010J15Rik	A	G	1: 193,174,382 (GRCm38)	Q14R	possibly damaging	Het
Adamts12	A	G	15: 11,255,635 (GRCm38)	D430G	probably damaging	Het
Agxt2	T	C	15: 10,393,808 (GRCm38)		probably null	Het
Akirin1	T	G	4: 123,743,531 (GRCm38)	Q87P	possibly damaging	Het
Ank2	G	A	3: 126,929,757 (GRCm38)	R974C	probably damaging	Het
Arhgap23	A	G	11: 97,463,672 (GRCm38)	I804V	probably damaging	Het
Arhgef28	A	T	13: 97,994,019 (GRCm38)	L437Q	possibly damaging	Het
Atp8a2	G	T	14: 59,773,755 (GRCm38)	Y967*	probably null	Het
Calcr	A	G	6: 3,708,586 (GRCm38)	L200S	probably damaging	Het
Ccdc80	T	A	16: 45,096,465 (GRCm38)	V528D	possibly damaging	Het
Chst13	G	A	6: 90,325,081 (GRCm38)	R28C	possibly damaging	Het
Clrn1	A	G	3: 58,846,320 (GRCm38)	F207L	probably damaging	Het
Col12a1	T	C	9: 79,655,485 (GRCm38)	T1772A	probably damaging	Het
Cubn	T	C	2: 13,355,680 (GRCm38)	T1744A	probably benign	Het
Dchs2	A	G	3: 83,129,911 (GRCm38)	E655G	probably damaging	Het
Dnajb3	T	A	1: 88,205,662 (GRCm38)	E6V	possibly damaging	Het
Dock5	G	A	14: 67,822,602 (GRCm38)	P463S	probably benign	Het
Fancd2	T	A	6: 113,578,413 (GRCm38)	C1128S	probably benign	Het
Fcrl5	G	A	3: 87,448,327 (GRCm38)	G449E	probably damaging	Het
Frem2	G	T	3: 53,585,640 (GRCm38)	N1818K	possibly damaging	Het
Gm21149	C	A	5: 15,473,039 (GRCm38)	V187L	possibly damaging	Het
Gm8994	A	G	6: 136,328,598 (GRCm38)	K19R	probably benign	Het
Gpat2	G	C	2: 127,431,918 (GRCm38)	G294R	possibly damaging	Het
Gstm7	A	G	3: 107,930,826 (GRCm38)		probably null	Het
Htr1b	T	A	9: 81,631,757 (GRCm38)	I266F	probably benign	Het
Jakmip3	T	C	7: 139,019,171 (GRCm38)	I305T	probably damaging	Het
Kif13a	C	T	13: 46,752,455 (GRCm38)	V671M	possibly damaging	Het
Kifc5b	T	C	17: 26,921,842 (GRCm38)	C97R	probably benign	Het
Klhl30	A	T	1: 91,361,190 (GRCm38)	H557L	probably damaging	Het
Lama3	T	C	18: 12,479,756 (GRCm38)	V1199A	probably benign	Het
Lmbr1	A	G	5: 29,254,294 (GRCm38)	L246P	probably damaging	Het
M6pr	T	C	6: 122,315,380 (GRCm38)	L178P	possibly damaging	Het
Med17	A	G	9: 15,274,583 (GRCm38)	S212P	probably damaging	Het
Med23	T	A	10: 24,873,476 (GRCm38)	S31T	possibly damaging	Het
Morc2b	T	G	17: 33,137,776 (GRCm38)	T341P	probably damaging	Het
Mre11a	A	G	9: 14,785,509 (GRCm38)	M1V	probably null	Het
Mrpl17	T	C	7: 105,809,915 (GRCm38)	H158R	probably benign	Het
Mstn	A	G	1: 53,066,489 (GRCm38)	Q330R	probably benign	Het
Muc16	T	A	9: 18,647,399 (GRCm38)	K2533*	probably null	Het
N4bp2	T	C	5: 65,791,001 (GRCm38)	S325P	possibly damaging	Het
Nadk	A	G	4: 155,589,351 (GRCm38)	Y399C	possibly damaging	Het
Nbea	A	C	3: 56,091,119 (GRCm38)	L89R	probably damaging	Het
Ncoa1	A	G	12: 4,278,181 (GRCm38)	F775L	probably benign	Het
Ndufa11	C	A	17: 56,721,331 (GRCm38)	A70E	probably damaging	Het
Nfx1	A	G	4: 40,976,851 (GRCm38)	Y175C	possibly damaging	Het
Olfr1121	A	G	2: 87,371,565 (GRCm38)	N11S	probably damaging	Het
Olfr1419	A	T	19: 11,870,727 (GRCm38)	L163Q	probably damaging	Het
Pcsk6	T	C	7: 65,969,014 (GRCm38)	S443P	probably damaging	Het
Pcsk9	T	C	4: 106,447,596 (GRCm38)	D425G	probably benign	Het
Pdcd1lg2	T	A	19: 29,437,298 (GRCm38)	C42S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm38)		probably benign	Het
Rbm46	G	A	3: 82,863,955 (GRCm38)	T451M	probably benign	Het
Rcan2	T	A	17: 43,953,479 (GRCm38)	V10D	probably benign	Het
Rpl7l1	T	C	17: 46,782,622 (GRCm38)	E4G	probably benign	Het
Rptn	A	G	3: 93,397,199 (GRCm38)	E613G	probably benign	Het
Sbk2	T	C	7: 4,957,622 (GRCm38)	D183G	probably damaging	Het
Slc15a4	C	T	5: 127,616,886 (GRCm38)	A162T	probably benign	Het
Slc30a4	A	G	2: 122,686,046 (GRCm38)	W315R	probably damaging	Het
Slc39a14	G	C	14: 70,309,813 (GRCm38)	F361L	probably benign	Het
Slc6a13	T	C	6: 121,336,842 (GRCm38)	Y515H	possibly damaging	Het
Slitrk3	C	A	3: 73,049,914 (GRCm38)	K508N	possibly damaging	Het
Stard4	T	C	18: 33,205,225 (GRCm38)	D144G	probably benign	Het
Tlr9	T	C	9: 106,224,937 (GRCm38)	F476L	probably damaging	Het
Tshz1	A	T	18: 84,013,220 (GRCm38)	V1021D	probably damaging	Het
Vmn1r54	A	T	6: 90,269,322 (GRCm38)	I73F	probably benign	Het
Vmn2r19	A	C	6: 123,316,153 (GRCm38)	S385R	possibly damaging	Het
Xkr5	A	G	8: 18,948,700 (GRCm38)	L34P	probably damaging	Het
Xpo4	A	G	14: 57,638,313 (GRCm38)	V121A	probably damaging	Het
Zbtb40	T	A	4: 136,984,866 (GRCm38)	H268L	probably null	Het
Zfp865	T	C	7: 5,030,066 (GRCm38)	F350S	probably damaging	Het
Zscan4b	T	C	7: 10,900,901 (GRCm38)	I472V	possibly 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
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'- ACACAAATTGGTGGCAAGGC -3'
(R):5'- TAGTTTTGGTGAGAAACGGCTCAG -3'

Sequencing Primer
(F):5'- CACGTGACATCAGAGTGGGC -3'
(R):5'- ACGGCTCAGAAGTCTCTCTAG -3'

Posted On

2018-05-04