Mutagenetix > Incidental Mutation

Incidental Mutation 'R6732:Chchd6'

530106

Institutional Source

Beutler Lab

Gene Symbol

Chchd6

Ensembl Gene

ENSMUSG00000030086

Gene Name

coiled-coil-helix-coiled-coil-helix domain containing 6

Synonyms

1700021B03Rik, Micos25, 0710001P09Rik

MMRRC Submission

044850-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6732 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89360128-89572634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89551436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 75 (V75A)

Ref Sequence

ENSEMBL: ENSMUSP00000109179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032172] [ENSMUST00000113550]

AlphaFold

Q91VN4

Predicted Effect

probably benign
Transcript: ENSMUST00000032172
AA Change: V75A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000032172
Gene: ENSMUSG00000030086
AA Change: V75A

Domain	Start	End	E-Value	Type
Pfam:DUF737	16	227	1.5e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113550
AA Change: V75A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109179
Gene: ENSMUSG00000030086
AA Change: V75A

Domain	Start	End	E-Value	Type
Pfam:DUF737	16	179	4.8e-47	PFAM
Pfam:DUF737	173	199	9.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204970

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,117,190 (GRCm39)	I486T	probably damaging	Het
Abcc5	T	C	16: 20,223,434 (GRCm39)	N158S	probably benign	Het
AI182371	G	T	2: 34,974,717 (GRCm39)		probably benign	Het
Ap1ar	G	A	3: 127,609,334 (GRCm39)	Q96*	probably null	Het
Cd101	C	T	3: 100,915,515 (GRCm39)	S684N	probably benign	Het
Cdh16	T	G	8: 105,345,165 (GRCm39)	I375L	probably benign	Het
Coro2a	A	T	4: 46,551,374 (GRCm39)	N110K	probably damaging	Het
Cyp2c69	A	G	19: 39,869,943 (GRCm39)	V93A	probably benign	Het
Dnaaf9	A	G	2: 130,652,740 (GRCm39)		probably null	Het
Egln3	C	T	12: 54,227,427 (GRCm39)	A235T	probably benign	Het
Fryl	T	C	5: 73,212,124 (GRCm39)	T2335A	probably damaging	Het
Fzd3	T	C	14: 65,473,252 (GRCm39)	D172G	probably benign	Het
Galnt2	T	A	8: 125,067,561 (GRCm39)	W447R	probably damaging	Het
Iqce	A	G	5: 140,660,990 (GRCm39)	L450P	probably benign	Het
Ly9	T	C	1: 171,421,653 (GRCm39)	T533A	possibly damaging	Het
Map3k19	A	C	1: 127,751,969 (GRCm39)	F257V	probably benign	Het
Mroh7	GTT	GTTT	4: 106,537,910 (GRCm39)		probably null	Het
Or5ac20	A	T	16: 59,104,314 (GRCm39)	V182E	probably benign	Het
Pcdhb11	A	T	18: 37,555,197 (GRCm39)	I176F	probably benign	Het
Pigp	A	C	16: 94,166,300 (GRCm39)	L96R	probably damaging	Het
Pkd1	A	G	17: 24,788,387 (GRCm39)	D715G	probably damaging	Het
Plxnd1	A	C	6: 115,946,890 (GRCm39)	L828R	possibly damaging	Het
Pramel15	C	T	4: 144,099,743 (GRCm39)	V341I	probably benign	Het
Psmd2	T	A	16: 20,481,386 (GRCm39)	S814T	probably benign	Het
Pusl1	A	G	4: 155,975,573 (GRCm39)	S87P	probably benign	Het
Rgs3	T	A	4: 62,521,180 (GRCm39)	D34E	probably benign	Het
Rhof	A	G	5: 123,269,999 (GRCm39)	F53L	probably damaging	Het
Sik3	C	A	9: 46,123,851 (GRCm39)	P1217T	probably benign	Het
Skic2	G	A	17: 35,064,166 (GRCm39)	R507*	probably null	Het
Slc14a2	A	G	18: 78,235,389 (GRCm39)	Y263H	probably damaging	Het
Slc26a4	C	T	12: 31,576,599 (GRCm39)		probably null	Het
Smyd3	T	G	1: 179,223,395 (GRCm39)	H178P	probably benign	Het
Thada	T	C	17: 84,761,842 (GRCm39)		probably null	Het
Top1mt	A	C	15: 75,541,337 (GRCm39)		probably null	Het
Trim17	A	T	11: 58,861,851 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,770,395 (GRCm39)	F2599I	possibly damaging	Het
Tuba3a	A	T	6: 125,258,608 (GRCm39)	D127E	probably benign	Het
Ucp1	A	G	8: 84,018,106 (GRCm39)	T68A	probably benign	Het
Vmn2r69	A	G	7: 85,060,351 (GRCm39)	V411A	probably benign	Het
Vmn2r74	A	T	7: 85,606,758 (GRCm39)	V196E	probably damaging	Het
Wdr59	T	C	8: 112,227,684 (GRCm39)	Y131C	probably damaging	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zbtb21	G	T	16: 97,752,282 (GRCm39)	S667Y	probably damaging	Het

Other mutations in Chchd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Chchd6	APN	6	89,546,399 (GRCm39)	splice site	probably null
IGL02340:Chchd6	APN	6	89,396,762 (GRCm39)	missense	probably damaging	0.99
IGL02490:Chchd6	APN	6	89,361,656 (GRCm39)	missense	possibly damaging	0.90
R0557:Chchd6	UTSW	6	89,551,569 (GRCm39)	missense	probably damaging	1.00
R1170:Chchd6	UTSW	6	89,361,669 (GRCm39)	missense	probably damaging	1.00
R1341:Chchd6	UTSW	6	89,361,623 (GRCm39)	missense	probably benign	0.00
R1619:Chchd6	UTSW	6	89,396,736 (GRCm39)	missense	possibly damaging	0.95
R1757:Chchd6	UTSW	6	89,361,626 (GRCm39)	missense	probably damaging	1.00
R3886:Chchd6	UTSW	6	89,444,433 (GRCm39)	missense	probably damaging	1.00
R4627:Chchd6	UTSW	6	89,361,642 (GRCm39)	missense	probably damaging	1.00
R4635:Chchd6	UTSW	6	89,444,448 (GRCm39)	missense	probably damaging	1.00
R5518:Chchd6	UTSW	6	89,544,567 (GRCm39)	critical splice donor site	probably null
R6869:Chchd6	UTSW	6	89,572,478 (GRCm39)	missense	probably damaging	1.00
R8673:Chchd6	UTSW	6	89,546,380 (GRCm39)	missense	probably damaging	0.98
R9365:Chchd6	UTSW	6	89,551,413 (GRCm39)	missense	probably benign	0.25
R9502:Chchd6	UTSW	6	89,396,763 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTACTGTCTCTGAAAGCAGTG -3'
(R):5'- GCTGGTCTTCAGAAAACCTCAG -3'

Sequencing Primer
(F):5'- TCTCTGAAAGCAGTGACTCAC -3'
(R):5'- CTTCAGAAAACCTCAGTAGTTCTGGG -3'

Posted On

2018-08-01