Mutagenetix > Incidental Mutation

Incidental Mutation 'R9756:Chd6'

732721

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

5430439G14Rik, 6330406J24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.745) question?

Stock #

R9756 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

160788898-160950995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160802259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 2192 (S2192G)

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: S2192G

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

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: S2192G

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: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,421,906 (GRCm39)	Y94F	possibly damaging	Het
Abcb5	A	G	12: 118,881,873 (GRCm39)	S619P	probably damaging	Het
Adgrf5	A	G	17: 43,761,137 (GRCm39)	N944S	probably benign	Het
Ano1	T	A	7: 144,162,666 (GRCm39)	M689L	probably benign	Het
Antxr1	T	A	6: 87,217,936 (GRCm39)	H314L	probably benign	Het
Atp13a5	CA	C	16: 29,051,583 (GRCm39)		probably null	Het
Blmh	T	A	11: 76,859,509 (GRCm39)	M370K	probably damaging	Het
Cdh8	G	A	8: 99,759,976 (GRCm39)	T591M	probably damaging	Het
Cep290	G	A	10: 100,352,034 (GRCm39)	E747K	probably damaging	Het
Cldn8	T	G	16: 88,359,917 (GRCm39)	T3P	probably benign	Het
Crtac1	A	G	19: 42,286,780 (GRCm39)	L421P	probably damaging	Het
Ddx59	G	T	1: 136,345,069 (GRCm39)	A247S	probably damaging	Het
Defa38	C	T	8: 21,585,943 (GRCm39)	V42I	possibly damaging	Het
Dennd5a	A	G	7: 109,496,174 (GRCm39)	V1164A	possibly damaging	Het
Dnhd1	A	T	7: 105,353,135 (GRCm39)	T2763S	probably benign	Het
Evpl	T	C	11: 116,112,077 (GRCm39)	D1871G	probably damaging	Het
Fat1	T	A	8: 45,496,974 (GRCm39)	I4153N	probably damaging	Het
Fbxl17	A	G	17: 63,367,310 (GRCm39)	Y688H	probably damaging	Het
Fntb	A	G	12: 76,966,938 (GRCm39)	E424G	probably benign	Het
Gabra4	A	G	5: 71,729,067 (GRCm39)	M571T	probably damaging	Het
Hoxb5	T	C	11: 96,194,449 (GRCm39)	Y4H	probably damaging	Het
Htr1a	T	C	13: 105,581,450 (GRCm39)	V230A	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv3-4	T	C	12: 114,217,448 (GRCm39)	T48A	probably damaging	Het
Il15ra	A	G	2: 11,728,259 (GRCm39)	M53V	probably benign	Het
Ipo9	A	C	1: 135,314,057 (GRCm39)	D945E	probably benign	Het
Klk1b22	A	T	7: 43,765,254 (GRCm39)		probably null	Het
Klkb1	T	C	8: 45,735,811 (GRCm39)	N184S	possibly damaging	Het
Lbhd2	G	A	12: 111,376,774 (GRCm39)	A74T	probably damaging	Het
Lpcat3	A	G	6: 124,679,967 (GRCm39)		probably null	Het
Luzp1	T	C	4: 136,270,048 (GRCm39)	I757T	probably damaging	Het
Mbd5	C	A	2: 49,169,283 (GRCm39)	P1485T	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mical2	C	T	7: 111,902,928 (GRCm39)	T133I	probably damaging	Het
Mylk	T	C	16: 34,734,387 (GRCm39)	S663P	probably damaging	Het
Or2ag13	A	T	7: 106,313,002 (GRCm39)	N295K	probably benign	Het
Or2j3	A	G	17: 38,615,971 (GRCm39)	V127A	probably benign	Het
Or4x11	A	T	2: 89,867,674 (GRCm39)	N137I	probably benign	Het
Or5ak22	T	A	2: 85,230,682 (GRCm39)	H65L	probably damaging	Het
Or5b119	G	A	19: 13,456,986 (GRCm39)	T192I	probably benign	Het
Or8b12	G	A	9: 37,658,314 (GRCm39)	D295N	possibly damaging	Het
Patj	G	T	4: 98,565,535 (GRCm39)	A1656S	probably benign	Het
Peg10	GC	GCGCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigz	G	T	16: 31,763,787 (GRCm39)	G282C	probably damaging	Het
Pomk	G	A	8: 26,472,918 (GRCm39)	T345M	possibly damaging	Het
Psap	T	C	10: 60,130,784 (GRCm39)	S205P	possibly damaging	Het
Ptpn6	A	T	6: 124,705,592 (GRCm39)	F186L	probably damaging	Het
Rnase2b	T	C	14: 51,400,302 (GRCm39)	S128P	probably damaging	Het
Rnf112	C	T	11: 61,340,667 (GRCm39)	V536I	probably damaging	Het
Rnf31	A	T	14: 55,836,582 (GRCm39)	E805D	probably damaging	Het
Rps6kc1	A	T	1: 190,604,021 (GRCm39)	D200E	probably benign	Het
Rufy2	T	C	10: 62,818,519 (GRCm39)	L25P	probably damaging	Het
Sec14l2	T	A	11: 4,053,978 (GRCm39)	K230*	probably null	Het
Senp1	A	G	15: 97,957,806 (GRCm39)	I364T	possibly damaging	Het
Sod1	T	A	16: 90,017,753 (GRCm39)	M3K	probably benign	Het
Stab2	T	C	10: 86,803,553 (GRCm39)	D332G	possibly damaging	Het
Tcf4	G	T	18: 69,790,830 (GRCm39)	E408*	probably null	Het
Tdrd1	T	C	19: 56,831,662 (GRCm39)	M351T	probably benign	Het
Tmem39a	T	C	16: 38,396,126 (GRCm39)	Y120H	probably benign	Het
Trav16	C	A	14: 53,980,886 (GRCm39)	T25K	possibly damaging	Het
Unc13c	T	A	9: 73,839,526 (GRCm39)	N442Y	probably benign	Het
Vmn2r71	A	T	7: 85,268,573 (GRCm39)	K259*	probably null	Het
Yipf1	T	C	4: 107,176,247 (GRCm39)	V47A	probably benign	Het
Zeb2	T	C	2: 44,887,414 (GRCm39)	T548A	possibly damaging	Het
Zmym4	A	G	4: 126,771,502 (GRCm39)	F1291L	probably damaging	Het

Other mutations in Chd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Chd6	APN	2	160,883,999 (GRCm39)	missense	probably benign	0.01
IGL00899:Chd6	APN	2	160,871,218 (GRCm39)	splice site	probably benign
IGL01104:Chd6	APN	2	160,803,847 (GRCm39)	missense	probably damaging	1.00
IGL01295:Chd6	APN	2	160,830,290 (GRCm39)	splice site	probably benign
IGL01717:Chd6	APN	2	160,807,179 (GRCm39)	missense	possibly damaging	0.96
IGL01795:Chd6	APN	2	160,803,294 (GRCm39)	missense	probably benign	0.00
IGL01814:Chd6	APN	2	160,901,849 (GRCm39)	missense	probably benign	0.25
IGL02016:Chd6	APN	2	160,825,598 (GRCm39)	missense	probably damaging	1.00
IGL02104:Chd6	APN	2	160,819,432 (GRCm39)	missense	probably benign
IGL02158:Chd6	APN	2	160,868,212 (GRCm39)	missense	possibly damaging	0.73
IGL02313:Chd6	APN	2	160,807,595 (GRCm39)	missense	probably damaging	1.00
IGL02472:Chd6	APN	2	160,826,372 (GRCm39)	splice site	probably benign
IGL02522:Chd6	APN	2	160,807,716 (GRCm39)	missense	probably benign	0.30
IGL02626:Chd6	APN	2	160,881,270 (GRCm39)	splice site	probably benign
IGL02727:Chd6	APN	2	160,811,383 (GRCm39)	missense	probably damaging	0.96
IGL02738:Chd6	APN	2	160,807,618 (GRCm39)	missense	probably benign	0.45
IGL02743:Chd6	APN	2	160,802,183 (GRCm39)	missense	probably damaging	1.00
IGL02800:Chd6	APN	2	160,826,552 (GRCm39)	missense	probably damaging	1.00
IGL02811:Chd6	APN	2	160,832,221 (GRCm39)	missense	probably damaging	1.00
IGL02850:Chd6	APN	2	160,861,536 (GRCm39)	nonsense	probably null
IGL02979:Chd6	APN	2	160,808,090 (GRCm39)	missense	possibly damaging	0.48
IGL02993:Chd6	APN	2	160,894,304 (GRCm39)	splice site	probably benign
IGL03277:Chd6	APN	2	160,824,981 (GRCm39)	missense	probably null	1.00
IGL03346:Chd6	APN	2	160,802,282 (GRCm39)	missense	probably benign	0.00
IGL03357:Chd6	APN	2	160,859,936 (GRCm39)	splice site	probably benign
IGL03134:Chd6	UTSW	2	160,807,403 (GRCm39)	missense	possibly damaging	0.88
R0106:Chd6	UTSW	2	160,809,822 (GRCm39)	missense	probably damaging	1.00
R0106:Chd6	UTSW	2	160,809,822 (GRCm39)	missense	probably damaging	1.00
R0212:Chd6	UTSW	2	160,894,767 (GRCm39)	missense	probably damaging	0.99
R0363:Chd6	UTSW	2	160,856,244 (GRCm39)	missense	probably damaging	1.00
R0399:Chd6	UTSW	2	160,894,608 (GRCm39)	missense	probably damaging	1.00
R0511:Chd6	UTSW	2	160,834,111 (GRCm39)	missense	probably damaging	0.99
R0771:Chd6	UTSW	2	160,861,500 (GRCm39)	missense	probably damaging	1.00
R1147:Chd6	UTSW	2	160,832,191 (GRCm39)	missense	probably damaging	1.00
R1147:Chd6	UTSW	2	160,832,191 (GRCm39)	missense	probably damaging	1.00
R1184:Chd6	UTSW	2	160,872,722 (GRCm39)	missense	probably damaging	1.00
R1277:Chd6	UTSW	2	160,809,735 (GRCm39)	missense	probably damaging	1.00
R1396:Chd6	UTSW	2	160,825,023 (GRCm39)	missense	probably damaging	1.00
R1647:Chd6	UTSW	2	160,883,978 (GRCm39)	missense	probably damaging	1.00
R1648:Chd6	UTSW	2	160,883,978 (GRCm39)	missense	probably damaging	1.00
R1745:Chd6	UTSW	2	160,823,587 (GRCm39)	missense	probably damaging	0.96
R1766:Chd6	UTSW	2	160,808,559 (GRCm39)	missense	probably damaging	1.00
R1871:Chd6	UTSW	2	160,832,176 (GRCm39)	missense	probably damaging	1.00
R1928:Chd6	UTSW	2	160,809,920 (GRCm39)	splice site	probably benign
R1973:Chd6	UTSW	2	160,808,307 (GRCm39)	missense	probably damaging	0.99
R2200:Chd6	UTSW	2	160,825,673 (GRCm39)	missense	probably damaging	1.00
R2340:Chd6	UTSW	2	160,807,679 (GRCm39)	frame shift	probably null
R2341:Chd6	UTSW	2	160,807,679 (GRCm39)	frame shift	probably null
R2519:Chd6	UTSW	2	160,871,796 (GRCm39)	missense	possibly damaging	0.66
R2919:Chd6	UTSW	2	160,809,800 (GRCm39)	missense	possibly damaging	0.89
R3025:Chd6	UTSW	2	160,808,472 (GRCm39)	small deletion	probably benign
R3426:Chd6	UTSW	2	160,832,175 (GRCm39)	missense	probably damaging	1.00
R3427:Chd6	UTSW	2	160,832,175 (GRCm39)	missense	probably damaging	1.00
R4042:Chd6	UTSW	2	160,830,253 (GRCm39)	missense	probably damaging	1.00
R4273:Chd6	UTSW	2	160,803,211 (GRCm39)	missense	probably benign	0.04
R4360:Chd6	UTSW	2	160,791,776 (GRCm39)	missense	possibly damaging	0.48
R4399:Chd6	UTSW	2	160,807,238 (GRCm39)	missense	probably benign
R4458:Chd6	UTSW	2	160,871,796 (GRCm39)	missense	possibly damaging	0.66
R4583:Chd6	UTSW	2	160,856,114 (GRCm39)	missense	probably damaging	1.00
R4625:Chd6	UTSW	2	160,811,412 (GRCm39)	missense	probably damaging	1.00
R4740:Chd6	UTSW	2	160,812,103 (GRCm39)	missense	probably benign
R4765:Chd6	UTSW	2	160,808,164 (GRCm39)	nonsense	probably null
R4779:Chd6	UTSW	2	160,791,477 (GRCm39)	missense	probably damaging	1.00
R4877:Chd6	UTSW	2	160,871,219 (GRCm39)	splice site	probably benign
R5068:Chd6	UTSW	2	160,808,289 (GRCm39)	missense	possibly damaging	0.54
R5215:Chd6	UTSW	2	160,791,873 (GRCm39)	missense	probably damaging	1.00
R5275:Chd6	UTSW	2	160,811,283 (GRCm39)	missense	probably benign
R5405:Chd6	UTSW	2	160,807,310 (GRCm39)	missense	probably benign
R5598:Chd6	UTSW	2	160,856,032 (GRCm39)	missense	probably damaging	1.00
R5693:Chd6	UTSW	2	160,807,185 (GRCm39)	missense	probably benign
R5697:Chd6	UTSW	2	160,859,971 (GRCm39)	missense	probably damaging	1.00
R5715:Chd6	UTSW	2	160,791,798 (GRCm39)	missense	probably benign	0.00
R5759:Chd6	UTSW	2	160,825,682 (GRCm39)	missense	possibly damaging	0.91
R5761:Chd6	UTSW	2	160,798,999 (GRCm39)	missense	probably damaging	1.00
R5761:Chd6	UTSW	2	160,798,998 (GRCm39)	missense	probably damaging	1.00
R5954:Chd6	UTSW	2	160,807,747 (GRCm39)	missense	probably benign	0.00
R6025:Chd6	UTSW	2	160,807,502 (GRCm39)	missense	probably benign
R6104:Chd6	UTSW	2	160,856,052 (GRCm39)	missense	probably damaging	1.00
R6247:Chd6	UTSW	2	160,791,968 (GRCm39)	missense	probably damaging	1.00
R6393:Chd6	UTSW	2	160,821,407 (GRCm39)	missense	probably damaging	1.00
R6452:Chd6	UTSW	2	160,807,418 (GRCm39)	missense	possibly damaging	0.76
R6468:Chd6	UTSW	2	160,854,987 (GRCm39)	missense	probably damaging	1.00
R6784:Chd6	UTSW	2	160,808,174 (GRCm39)	missense	probably damaging	1.00
R6803:Chd6	UTSW	2	160,802,279 (GRCm39)	missense	possibly damaging	0.64
R6869:Chd6	UTSW	2	160,807,650 (GRCm39)	missense	probably benign
R6895:Chd6	UTSW	2	160,830,260 (GRCm39)	missense	probably damaging	1.00
R6925:Chd6	UTSW	2	160,855,047 (GRCm39)	missense	probably damaging	0.98
R7061:Chd6	UTSW	2	160,867,885 (GRCm39)	nonsense	probably null
R7064:Chd6	UTSW	2	160,791,983 (GRCm39)	missense	probably damaging	1.00
R7248:Chd6	UTSW	2	160,803,199 (GRCm39)	nonsense	probably null
R7287:Chd6	UTSW	2	160,850,312 (GRCm39)	missense	probably benign	0.07
R7431:Chd6	UTSW	2	160,868,248 (GRCm39)	missense	possibly damaging	0.92
R7486:Chd6	UTSW	2	160,791,923 (GRCm39)	missense	probably damaging	1.00
R7509:Chd6	UTSW	2	160,855,074 (GRCm39)	missense	probably damaging	1.00
R7699:Chd6	UTSW	2	160,867,863 (GRCm39)	missense	probably benign	0.13
R7748:Chd6	UTSW	2	160,808,539 (GRCm39)	missense	probably benign	0.37
R7785:Chd6	UTSW	2	160,812,095 (GRCm39)	missense	possibly damaging	0.51
R8002:Chd6	UTSW	2	160,832,241 (GRCm39)	missense	probably damaging	1.00
R8261:Chd6	UTSW	2	160,799,002 (GRCm39)	missense	probably damaging	1.00
R8317:Chd6	UTSW	2	160,832,241 (GRCm39)	missense	probably damaging	1.00
R8388:Chd6	UTSW	2	160,861,571 (GRCm39)	missense	probably damaging	1.00
R8865:Chd6	UTSW	2	160,862,989 (GRCm39)	missense	probably benign	0.10
R8867:Chd6	UTSW	2	160,862,989 (GRCm39)	missense	probably benign	0.10
R8996:Chd6	UTSW	2	160,823,543 (GRCm39)	missense	probably damaging	1.00
R9091:Chd6	UTSW	2	160,871,793 (GRCm39)	nonsense	probably null
R9270:Chd6	UTSW	2	160,871,793 (GRCm39)	nonsense	probably null
R9310:Chd6	UTSW	2	160,881,181 (GRCm39)	missense	probably damaging	1.00
R9367:Chd6	UTSW	2	160,871,784 (GRCm39)	missense	possibly damaging	0.83
R9438:Chd6	UTSW	2	160,799,078 (GRCm39)	missense	probably benign	0.01
Z1088:Chd6	UTSW	2	160,808,408 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACAAGTCCATACCGAGAGC -3'
(R):5'- TTGTGGTCACAGAGAAGATAGC -3'

Sequencing Primer
(F):5'- GCTCCTTGAAGTGAACTGATAGCAC -3'
(R):5'- TAGCAGGAAATAATACAAGGCCTG -3'

Posted On

2022-11-14