Mutagenetix > Incidental Mutation

Incidental Mutation 'R3886:Chchd6'

309647

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

040798-MU

Accession Numbers

Essential gene?

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

Stock #

R3886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89360128-89572634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89444433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 183 (E183G)

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: E183G

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

SMART Domains

Protein: ENSMUSP00000032172
Gene: ENSMUSG00000030086
AA Change: E183G

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	A	1: 85,868,273 (GRCm39)		probably null	Het
Adam17	G	A	12: 21,375,588 (GRCm39)	R744C	probably damaging	Het
Adss2	A	G	1: 177,595,335 (GRCm39)	Y402H	probably damaging	Het
Ccdc73	A	T	2: 104,821,688 (GRCm39)	T546S	possibly damaging	Het
Cd22	T	C	7: 30,569,532 (GRCm39)	D354G	possibly damaging	Het
Col6a5	A	G	9: 105,808,129 (GRCm39)	L973P	unknown	Het
Cp	T	C	3: 20,043,275 (GRCm39)	L1021P	probably damaging	Het
Cplane1	T	A	15: 8,201,289 (GRCm39)	V22E	probably damaging	Het
Cps1	C	A	1: 67,204,659 (GRCm39)	T493K	possibly damaging	Het
D630045J12Rik	A	G	6: 38,119,633 (GRCm39)	V1703A	possibly damaging	Het
Dennd1a	T	C	2: 37,748,089 (GRCm39)	N376S	possibly damaging	Het
Dmxl1	T	A	18: 50,011,326 (GRCm39)	M1161K	probably damaging	Het
Ect2l	C	T	10: 18,044,206 (GRCm39)	V310M	probably damaging	Het
Fn1	T	C	1: 71,679,465 (GRCm39)	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,765,483 (GRCm39)	H179R	unknown	Het
Gm8674	T	C	13: 50,056,199 (GRCm39)		noncoding transcript	Het
Ice1	T	C	13: 70,753,489 (GRCm39)	T866A	probably benign	Het
Jade2	C	T	11: 51,721,326 (GRCm39)	V201I	possibly damaging	Het
Kcnb2	T	C	1: 15,780,639 (GRCm39)	S504P	probably damaging	Het
Kcng4	T	C	8: 120,359,986 (GRCm39)	K130R	probably benign	Het
Lcor	T	A	19: 41,546,795 (GRCm39)	S126R	probably damaging	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lrch2	C	G	X: 146,256,003 (GRCm39)	A437P	probably damaging	Het
Lrrk1	C	T	7: 65,942,112 (GRCm39)	V709I	probably damaging	Het
Mdh1	A	G	11: 21,509,832 (GRCm39)	V181A	probably damaging	Het
Or10g7	A	G	9: 39,905,835 (GRCm39)	H243R	probably damaging	Het
Or4a71	T	A	2: 89,358,076 (GRCm39)	H226L	possibly damaging	Het
Ppp1r3a	A	C	6: 14,719,911 (GRCm39)	D334E	possibly damaging	Het
Pramel17	T	C	4: 101,692,920 (GRCm39)	K360R	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm45	A	G	2: 76,205,768 (GRCm39)	S207G	probably benign	Het
Relch	A	G	1: 105,619,938 (GRCm39)	N331S	probably benign	Het
Robo3	G	A	9: 37,333,477 (GRCm39)	Q723*	probably null	Het
Rreb1	G	A	13: 38,082,482 (GRCm39)		probably null	Het
Slc35f2	T	A	9: 53,724,241 (GRCm39)	S372T	probably benign	Het
Slitrk5	T	A	14: 111,917,229 (GRCm39)	C284*	probably null	Het
Snapc4	G	A	2: 26,255,510 (GRCm39)	Q1005*	probably null	Het
Tent4b	C	A	8: 88,927,043 (GRCm39)	A151E	probably benign	Het
Tnxb	A	G	17: 34,937,885 (GRCm39)	D3896G	probably damaging	Het
Tti1	A	G	2: 157,850,870 (GRCm39)	V123A	possibly damaging	Het
Usp1	T	C	4: 98,817,973 (GRCm39)	C147R	probably damaging	Het
Vill	A	G	9: 118,895,782 (GRCm39)	N106S	probably benign	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
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
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'- GCAACTTGTTGAAAGGCTGGG -3'
(R):5'- ATGACCATCCACAGCGTAGG -3'

Sequencing Primer
(F):5'- ATGGGCATGTCCACAGGGTG -3'
(R):5'- GTAGGCTCTGTGTGCATTACCAC -3'

Posted On

2015-04-17