Mutagenetix > Incidental Mutation

Incidental Mutation 'R4635:Chchd6'

349435

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

041899-MU

Accession Numbers

Essential gene?

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

Stock #

R4635 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89360128-89572634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89444448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 178 (E178G)

Ref Sequence

ENSEMBL: ENSMUSP00000032172 (fasta)

Gene Model

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

AlphaFold

Q91VN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000032172
AA Change: E178G

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

SMART Domains

Protein: ENSMUSP00000032172
Gene: ENSMUSG00000030086
AA Change: E178G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113550

SMART Domains

Protein: ENSMUSP00000109179
Gene: ENSMUSG00000030086

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204970

Meta Mutation Damage Score

0.2920

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (39/40)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,764,927 (GRCm39)	K639I	probably benign	Het
Amer3	C	A	1: 34,626,958 (GRCm39)	T399K	probably damaging	Het
Arfgef3	T	C	10: 18,510,603 (GRCm39)	Y786C	probably damaging	Het
Arhgef26	A	G	3: 62,247,861 (GRCm39)	Y315C	probably damaging	Het
Ccdc121	G	A	5: 31,645,435 (GRCm39)	R396Q	probably benign	Het
Chd3	TGCTGCCGCTGCCGC	TGCTGCCGCTGCCGCTGCCGC	11: 69,253,013 (GRCm39)		probably benign	Het
Daam1	T	A	12: 72,005,518 (GRCm39)		probably null	Het
Ddx60	A	G	8: 62,490,101 (GRCm39)	E1690G	probably benign	Het
Eme2	G	T	17: 25,113,882 (GRCm39)	P48T	probably benign	Het
Ferd3l	T	C	12: 33,978,835 (GRCm39)	M116T	probably damaging	Het
Gm13141	GGTTTCTTGATGCCA	G	4: 147,612,561 (GRCm39)		noncoding transcript	Het
Gtf2i	T	C	5: 134,274,028 (GRCm39)	N727D	probably damaging	Het
Hao1	T	A	2: 134,365,072 (GRCm39)	N185I	probably damaging	Het
Kifap3	C	T	1: 163,642,004 (GRCm39)	T195I	probably damaging	Het
Mag	A	G	7: 30,606,348 (GRCm39)	F363S	probably damaging	Het
Mef2a	A	G	7: 66,890,175 (GRCm39)	I135T	possibly damaging	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Nphs1	T	C	7: 30,167,432 (GRCm39)	F787L	probably benign	Het
Nr1h2	A	C	7: 44,201,961 (GRCm39)	S42A	probably benign	Het
Odad4	C	T	11: 100,442,333 (GRCm39)	Q164*	probably null	Het
Or10ag2	T	A	2: 87,249,043 (GRCm39)	M217K	probably benign	Het
Or4a76	A	C	2: 89,460,516 (GRCm39)	I242S	possibly damaging	Het
Or51aa2	T	C	7: 103,188,355 (GRCm39)	I29V	probably benign	Het
Or5ak23	T	A	2: 85,245,208 (GRCm39)	N5I	probably damaging	Het
Rab38	T	C	7: 88,099,854 (GRCm39)	V123A	probably damaging	Het
Scd1	T	C	19: 44,395,024 (GRCm39)	Y67C	probably damaging	Het
Scn5a	T	C	9: 119,358,051 (GRCm39)	N730S	possibly damaging	Het
Shc2	C	T	10: 79,462,120 (GRCm39)	C341Y	probably benign	Het
Tfdp2	T	A	9: 96,179,727 (GRCm39)	N113K	probably damaging	Het
Tmc3	A	G	7: 83,234,290 (GRCm39)		probably benign	Het
Top6bl	A	G	19: 4,748,524 (GRCm39)		probably benign	Het
Tox	A	T	4: 6,990,501 (GRCm39)		probably benign	Het
Tspoap1	A	G	11: 87,668,683 (GRCm39)	K1319E	probably benign	Het
Vit	G	A	17: 78,881,641 (GRCm39)	V135I	probably benign	Het
Vwa5b1	T	G	4: 138,338,150 (GRCm39)	S71R	possibly 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
R5518:Chchd6	UTSW	6	89,544,567 (GRCm39)	critical splice donor site	probably null
R6732:Chchd6	UTSW	6	89,551,436 (GRCm39)	missense	probably benign	0.03
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'- GTAAGTCAGCATGGGACCTG -3'
(R):5'- TGGAAGGAACCTAGAAATGTCC -3'

Sequencing Primer
(F):5'- AGCATGGGACCTGCTGTTCTC -3'
(R):5'- ACCCACTTTGAAGAGCTGTTG -3'

Posted On

2015-10-08