Mutagenetix > Incidental Mutation

Incidental Mutation 'R2161:Chchd2'

235146

Institutional Source

Beutler Lab

Gene Symbol

Chchd2

Ensembl Gene

ENSMUSG00000070493

Gene Name

coiled-coil-helix-coiled-coil-helix domain containing 2

Synonyms

Etohi6

MMRRC Submission

040164-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R2161 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

129910002-129916311 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 129912989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 29 (A29E)

Ref Sequence

ENSEMBL: ENSMUSP00000091835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094280] [ENSMUST00000140667]

AlphaFold

Q9D1L0

Predicted Effect

probably damaging
Transcript: ENSMUST00000094280
AA Change: A29E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091835
Gene: ENSMUSG00000070493
AA Change: A29E

Domain	Start	End	E-Value	Type
low complexity region	14	51	N/A	INTRINSIC
low complexity region	60	75	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131645

Predicted Effect

probably benign
Transcript: ENSMUST00000140667

SMART Domains

Protein: ENSMUSP00000117510
Gene: ENSMUSG00000025537

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	20	143	4.1e-9	PFAM
Pfam:Pkinase	20	144	3.2e-23	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	G	15: 11,215,821 (GRCm39)	M281V	probably damaging	Het
Ap1g1	A	T	8: 110,570,986 (GRCm39)	D423V	probably damaging	Het
Arel1	A	G	12: 84,968,030 (GRCm39)		probably null	Het
Arhgap33	T	C	7: 30,228,075 (GRCm39)		probably null	Het
Arhgef18	T	G	8: 3,489,575 (GRCm39)	Y302*	probably null	Het
Blm	T	C	7: 80,131,118 (GRCm39)		probably null	Het
Cep295	T	G	9: 15,264,354 (GRCm39)	E97D	probably damaging	Het
Cep295nl	T	C	11: 118,223,335 (GRCm39)	D503G	possibly damaging	Het
Cic	A	G	7: 24,987,559 (GRCm39)		probably null	Het
Cmtr1	C	T	17: 29,921,147 (GRCm39)	L798F	probably benign	Het
Col11a2	C	A	17: 34,283,771 (GRCm39)		probably benign	Het
Crispld2	A	G	8: 120,742,078 (GRCm39)	Y142C	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dsp	G	A	13: 38,380,427 (GRCm39)	D1792N	probably damaging	Het
Esp4	C	A	17: 40,913,284 (GRCm39)	N50K	probably benign	Het
Fbxo21	T	C	5: 118,133,451 (GRCm39)	S404P	probably damaging	Het
Ggnbp2	A	G	11: 84,725,259 (GRCm39)	F639L	probably benign	Het
Golph3l	G	A	3: 95,524,436 (GRCm39)	G229D	probably damaging	Het
Hlx	G	T	1: 184,459,838 (GRCm39)	S433R	probably benign	Het
Kdm2b	T	A	5: 123,018,762 (GRCm39)	S233C	probably damaging	Het
Krt14	C	T	11: 100,097,939 (GRCm39)	G115R	unknown	Het
Ldb3	A	G	14: 34,289,353 (GRCm39)		probably null	Het
Lrp1	T	A	10: 127,391,607 (GRCm39)	E2937D	probably damaging	Het
Mark2	G	C	19: 7,260,112 (GRCm39)	S111C	probably damaging	Het
Naa20	T	A	2: 145,753,715 (GRCm39)		probably null	Het
Ndufa8	A	T	2: 35,926,527 (GRCm39)	W170R	probably damaging	Het
Nlrp2	A	T	7: 5,328,041 (GRCm39)	L671I	probably damaging	Het
Or52e19b	T	A	7: 103,032,407 (GRCm39)	R267S	probably benign	Het
Or5b108	T	A	19: 13,168,673 (GRCm39)	I214K	probably damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptpro	A	G	6: 137,426,885 (GRCm39)	D280G	probably benign	Het
Reps1	A	G	10: 17,972,031 (GRCm39)	E361G	probably damaging	Het
Rgs6	A	G	12: 83,138,578 (GRCm39)	E304G	probably damaging	Het
Siglece	T	C	7: 43,308,793 (GRCm39)	T187A	probably benign	Het
Slc5a10	C	T	11: 61,610,760 (GRCm39)	G5R	probably null	Het
Sohlh1	A	G	2: 25,734,648 (GRCm39)	I215T	probably benign	Het
Stag1	T	A	9: 100,771,648 (GRCm39)	V691D	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tmed8	A	G	12: 87,221,031 (GRCm39)	V185A	probably damaging	Het
Trim71	A	G	9: 114,341,840 (GRCm39)	F814S	probably damaging	Het
Trmt9b	T	C	8: 36,972,804 (GRCm39)	C85R	probably damaging	Het
Tsnax	A	T	8: 125,742,428 (GRCm39)	K52N	probably damaging	Het
Tubgcp3	T	C	8: 12,682,292 (GRCm39)	T676A	probably benign	Het

Other mutations in Chchd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R9307:Chchd2	UTSW	5	129,916,054 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- CTCACCTGGTAAGTGATGTCGG -3'
(R):5'- TGTGCCCACAGGTATGCATC -3'

Sequencing Primer
(F):5'- TTTGCGGGCTCAGCACTG -3'
(R):5'- TGCCCACAGGTATGCATCTAATAAAG -3'

Posted On

2014-10-01