Mutagenetix > Incidental Mutation

Incidental Mutation 'R7287:Chd6'

566068

Institutional Source

Beutler Lab

Gene Symbol

Chd6

Ensembl Gene

ENSMUSG00000057133

Gene Name

chromodomain helicase DNA binding protein 6

Synonyms

5430439G14Rik, 6330406J24Rik

MMRRC Submission

045321-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.745) question?

Stock #

R7287 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160788898-160950995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 160850312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 875 (I875T)

Ref Sequence

ENSEMBL: ENSMUSP00000042291 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039782
AA Change: I875T

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000042291
Gene: ENSMUSG00000057133
AA Change: I875T

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

SMART Domains

Protein: ENSMUSP00000123240
Gene: ENSMUSG00000057133
AA Change: I874T

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

Meta Mutation Damage Score

0.8845

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,604,861 (GRCm39)	D656G	possibly damaging	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abcc8	T	C	7: 45,762,534 (GRCm39)	H1209R	probably damaging	Het
Adam26a	T	C	8: 44,023,380 (GRCm39)	T37A	possibly damaging	Het
Adamts9	C	T	6: 92,866,984 (GRCm39)	R685Q	possibly damaging	Het
Anapc7	T	A	5: 122,571,499 (GRCm39)	N191K	probably benign	Het
Ankrd26	C	T	6: 118,526,598 (GRCm39)		probably null	Het
Ap5z1	T	C	5: 142,459,802 (GRCm39)	L484P	probably damaging	Het
Arhgap32	A	G	9: 32,063,993 (GRCm39)	D77G		Het
Atp10a	T	A	7: 58,477,017 (GRCm39)	D1213E	probably damaging	Het
B3gnt8	T	C	7: 25,328,395 (GRCm39)	L275P	probably damaging	Het
Bltp2	G	A	11: 78,163,709 (GRCm39)	R1059H	possibly damaging	Het
Cab39	A	G	1: 85,746,182 (GRCm39)	E21G	probably benign	Het
Capn15	G	T	17: 26,179,429 (GRCm39)	S948R	probably damaging	Het
Cbarp	T	C	10: 79,973,154 (GRCm39)	T15A	unknown	Het
Ccdc81	C	T	7: 89,542,331 (GRCm39)	A182T	probably damaging	Het
Ccpg1	A	G	9: 72,922,688 (GRCm39)	H766R	probably benign	Het
Cfl1	T	C	19: 5,542,562 (GRCm39)	V14A	probably benign	Het
Cidec	T	A	6: 113,405,359 (GRCm39)	E121D	probably benign	Het
Clpx	C	A	9: 65,207,295 (GRCm39)	Y64*	probably null	Het
Cntn1	T	A	15: 92,143,833 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,826 (GRCm39)	L472P	probably damaging	Het
Dcdc2c	G	T	12: 28,566,685 (GRCm39)	D159E	probably benign	Het
Emp1	T	C	6: 135,357,167 (GRCm39)	F82L	probably benign	Het
Fem1b	T	C	9: 62,703,404 (GRCm39)	T619A	probably benign	Het
Fgf15	A	T	7: 144,450,531 (GRCm39)	D39V	probably benign	Het
Galnt12	T	G	4: 47,108,525 (GRCm39)	F221V	probably damaging	Het
Herc6	A	G	6: 57,628,965 (GRCm39)		probably null	Het
Hspg2	G	A	4: 137,256,867 (GRCm39)	V1537I	probably benign	Het
Ido2	T	C	8: 25,025,154 (GRCm39)		probably null	Het
Insr	G	A	8: 3,219,717 (GRCm39)	T935I	probably benign	Het
Itgax	G	A	7: 127,747,677 (GRCm39)	C1031Y	probably damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Kmt5b	T	C	19: 3,854,501 (GRCm39)	Y255H	possibly damaging	Het
Lrriq1	A	T	10: 103,051,877 (GRCm39)	Y292N	probably benign	Het
Mrpl37	A	G	4: 106,917,717 (GRCm39)	F318S	probably damaging	Het
Nav2	A	G	7: 49,070,076 (GRCm39)	N311D	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrp9b	T	C	7: 19,762,381 (GRCm39)	C673R	probably damaging	Het
Npnt	A	G	3: 132,612,563 (GRCm39)	V74A	probably benign	Het
Or10ak12	T	A	4: 118,666,939 (GRCm39)	T41S	probably benign	Het
Or1e19	T	A	11: 73,316,669 (GRCm39)	I47F	probably benign	Het
Plce1	A	T	19: 38,690,347 (GRCm39)	Q677L	probably benign	Het
Pmel	C	T	10: 128,551,095 (GRCm39)	Q113*	probably null	Het
Pom121l2	T	A	13: 22,168,502 (GRCm39)	F924L	probably benign	Het
Poteg	G	A	8: 27,943,372 (GRCm39)	R214K	probably null	Het
Pprc1	G	T	19: 46,059,793 (GRCm39)	S1480I	unknown	Het
Secisbp2l	A	G	2: 125,582,289 (GRCm39)	S1056P	probably benign	Het
Selenoo	T	C	15: 88,982,903 (GRCm39)	F477L	probably benign	Het
Senp2	A	G	16: 21,837,114 (GRCm39)	D121G	probably damaging	Het
Slc25a11	T	C	11: 70,536,181 (GRCm39)	D211G	probably benign	Het
Slc44a2	A	G	9: 21,253,752 (GRCm39)	D131G	probably benign	Het
Tcf25	G	A	8: 124,100,711 (GRCm39)	A34T	possibly damaging	Het
Tm9sf3	A	G	19: 41,205,818 (GRCm39)	Y530H	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmem132d	G	T	5: 128,061,415 (GRCm39)	Q396K	probably damaging	Het
Tmem154	A	G	3: 84,597,870 (GRCm39)	T136A	possibly damaging	Het
Tnrc6b	A	G	15: 80,763,742 (GRCm39)	T415A	possibly damaging	Het
Tonsl	T	C	15: 76,517,925 (GRCm39)		probably null	Het
Ttyh1	T	C	7: 4,128,657 (GRCm39)	Y185H	probably benign	Het
Ufl1	T	A	4: 25,254,852 (GRCm39)	T535S	probably benign	Het
Vmn1r15	T	C	6: 57,235,201 (GRCm39)	L23P	possibly damaging	Het
Vmn2r25	T	A	6: 123,829,040 (GRCm39)	H78L	possibly damaging	Het
Vmn2r68	T	C	7: 84,871,460 (GRCm39)	T608A	probably benign	Het
Vwf	A	G	6: 125,614,430 (GRCm39)	I1104V		Het
Zbtb2	C	T	10: 4,318,986 (GRCm39)	D347N	possibly damaging	Het
Zfyve9	A	T	4: 108,575,453 (GRCm39)	S543T	probably benign	Het
Zhx1	T	C	15: 57,916,692 (GRCm39)	N518S	probably damaging	Het
Zmym6	T	C	4: 127,016,775 (GRCm39)	V852A	possibly 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
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
R9756:Chd6	UTSW	2	160,802,259 (GRCm39)	missense	probably benign
Z1088:Chd6	UTSW	2	160,808,408 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAGGGTCAACACCTACTTTTC -3'
(R):5'- CTATGATTAACACCTGGGCTTTC -3'

Sequencing Primer
(F):5'- GGGTCAACACCTACTTTTCATTTAG -3'
(R):5'- AACACCTGGGCTTTCATTCATTTGG -3'

Posted On

2019-06-26