Mutagenetix > Incidental Mutation

Incidental Mutation 'R1438:Chchd3'

160763

Institutional Source

Beutler Lab

Gene Symbol

Chchd3

Ensembl Gene

ENSMUSG00000053768

Gene Name

coiled-coil-helix-coiled-coil-helix domain containing 3

Synonyms

1700039J09Rik, 0610041L09Rik, Micos19

MMRRC Submission

039493-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1438 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32769142-33037206 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 32985503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066379] [ENSMUST00000115091] [ENSMUST00000124436] [ENSMUST00000127666]

AlphaFold

Q9CRB9

Predicted Effect

probably benign
Transcript: ENSMUST00000066379

SMART Domains

Protein: ENSMUSP00000070149
Gene: ENSMUSG00000053768

Domain	Start	End	E-Value	Type
Pfam:DUF737	14	53	2.4e-16	PFAM
Pfam:DUF737	47	175	2.9e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115091

SMART Domains

Protein: ENSMUSP00000110743
Gene: ENSMUSG00000053768

Domain	Start	End	E-Value	Type
Pfam:DUF737	14	175	6.4e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124436

SMART Domains

Protein: ENSMUSP00000138484
Gene: ENSMUSG00000053768

Domain	Start	End	E-Value	Type
Pfam:DUF737	14	84	3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127666

SMART Domains

Protein: ENSMUSP00000123220
Gene: ENSMUSG00000053768

Domain	Start	End	E-Value	Type
Pfam:DUF737	14	53	7.3e-17	PFAM
Pfam:DUF737	47	180	8.8e-40	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit lethality prior to implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	T	5: 137,552,871 (GRCm39)	I67F	probably damaging	Het
Adam24	A	T	8: 41,134,431 (GRCm39)	N633I	probably benign	Het
Adgrg6	T	C	10: 14,344,585 (GRCm39)	S123G	possibly damaging	Het
Afdn	T	A	17: 14,075,652 (GRCm39)	F940L	probably damaging	Het
Ahrr	A	T	13: 74,372,987 (GRCm39)	Y26*	probably null	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Aox3	A	T	1: 58,192,337 (GRCm39)	T536S	probably benign	Het
Boc	A	T	16: 44,309,109 (GRCm39)		probably null	Het
Cchcr1	T	C	17: 35,841,457 (GRCm39)		probably null	Het
Cct2	A	T	10: 116,890,897 (GRCm39)		probably benign	Het
Cd84	A	T	1: 171,679,685 (GRCm39)	Y121F	probably damaging	Het
Cecr2	T	A	6: 120,738,433 (GRCm39)	C275*	probably null	Het
Ckmt2	A	T	13: 92,007,971 (GRCm39)		probably benign	Het
Col5a3	T	C	9: 20,691,253 (GRCm39)	K1131E	probably damaging	Het
Dek	A	T	13: 47,241,647 (GRCm39)	S306T	probably benign	Het
Dhx32	T	C	7: 133,339,069 (GRCm39)	E322G	possibly damaging	Het
Dlg5	T	A	14: 24,204,673 (GRCm39)	D941V	possibly damaging	Het
Dnah10	A	G	5: 124,876,009 (GRCm39)	N2559S	probably benign	Het
Dnajc3	A	G	14: 119,205,518 (GRCm39)	T171A	probably benign	Het
Eftud2	G	T	11: 102,750,868 (GRCm39)	F308L	probably damaging	Het
Elp6	T	C	9: 110,143,123 (GRCm39)	F95S	probably damaging	Het
Emsy	C	T	7: 98,270,613 (GRCm39)	V450I	possibly damaging	Het
Exoc3	A	T	13: 74,338,298 (GRCm39)	M362K	probably damaging	Het
Fat2	A	T	11: 55,178,637 (GRCm39)	D1474E	probably damaging	Het
Fcgbp	T	A	7: 27,803,158 (GRCm39)	C1587*	probably null	Het
Fosl2	T	A	5: 32,304,329 (GRCm39)	L88Q	probably damaging	Het
Fsd2	T	C	7: 81,198,621 (GRCm39)	D381G	probably benign	Het
Golim4	A	C	3: 75,863,440 (GRCm39)	S56A	probably damaging	Het
Gpr39	T	C	1: 125,800,093 (GRCm39)		probably benign	Het
Gucy1b2	T	C	14: 62,651,770 (GRCm39)	I409V	probably damaging	Het
Hivep1	A	G	13: 42,311,596 (GRCm39)	T1279A	probably benign	Het
Ifit1bl2	T	A	19: 34,596,569 (GRCm39)	Q349L	possibly damaging	Het
Kcnc1	A	T	7: 46,077,691 (GRCm39)	I498F	possibly damaging	Het
Kctd21	T	A	7: 96,996,704 (GRCm39)	I59N	probably damaging	Het
Lama5	T	A	2: 179,824,593 (GRCm39)	T2577S	probably benign	Het
Mief2	G	T	11: 60,621,140 (GRCm39)	R9M	possibly damaging	Het
Mmp3	T	C	9: 7,453,705 (GRCm39)	V442A	probably benign	Het
Nkapd1	C	A	9: 50,518,972 (GRCm39)	K213N	possibly damaging	Het
Nrxn3	C	T	12: 90,298,909 (GRCm39)	R477W	probably damaging	Het
Or12e7	A	G	2: 87,288,336 (GRCm39)	T276A	probably benign	Het
Or7a41	T	A	10: 78,871,122 (GRCm39)	V164E	possibly damaging	Het
Parp1	A	G	1: 180,418,807 (GRCm39)	T656A	probably benign	Het
Pcdhb19	A	G	18: 37,631,015 (GRCm39)	D270G	probably damaging	Het
Phlpp1	A	G	1: 106,101,142 (GRCm39)	D470G	possibly damaging	Het
Prdm1	T	C	10: 44,318,124 (GRCm39)	E248G	probably benign	Het
Prtg	C	T	9: 72,818,032 (GRCm39)		probably benign	Het
Ptpn1	T	C	2: 167,818,529 (GRCm39)	Y424H	probably damaging	Het
Ptprr	T	C	10: 116,092,109 (GRCm39)	V369A	probably damaging	Het
Rai1	T	G	11: 60,076,221 (GRCm39)	V95G	probably benign	Het
Rasal3	T	A	17: 32,612,509 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,260,961 (GRCm39)	E195G	probably benign	Het
Rhbdd3	T	A	11: 5,053,332 (GRCm39)	L44Q	probably damaging	Het
Ripply2	T	C	9: 86,901,713 (GRCm39)	W80R	probably damaging	Het
Rnf183	A	G	4: 62,346,760 (GRCm39)	C13R	probably damaging	Het
Rorb	A	G	19: 18,932,417 (GRCm39)	L367P	probably damaging	Het
Rpl7a-ps5	C	T	17: 58,146,135 (GRCm39)		probably benign	Het
Rreb1	A	G	13: 38,114,581 (GRCm39)	N647D	probably benign	Het
Rtn1	A	T	12: 72,351,187 (GRCm39)	S341T	probably damaging	Het
Ryr3	T	C	2: 112,588,046 (GRCm39)	S2632G	probably benign	Het
Scube1	A	G	15: 83,499,227 (GRCm39)	C633R	possibly damaging	Het
Sdk1	A	T	5: 142,024,078 (GRCm39)	I723F	probably damaging	Het
Sec23a	A	T	12: 59,048,796 (GRCm39)	C109S	probably damaging	Het
Septin11	T	C	5: 93,296,287 (GRCm39)	F60L	probably damaging	Het
Sgf29	G	A	7: 126,271,063 (GRCm39)		probably null	Het
Skint5	A	G	4: 113,413,308 (GRCm39)		probably benign	Het
Smo	G	A	6: 29,755,482 (GRCm39)	V385I	possibly damaging	Het
Tada2a	G	A	11: 84,000,837 (GRCm39)	T76I	probably damaging	Het
Tas2r118	T	A	6: 23,969,422 (GRCm39)	H213L	possibly damaging	Het
Thoc5	A	T	11: 4,861,427 (GRCm39)		probably benign	Het
Tmem33	T	A	5: 67,424,634 (GRCm39)		probably null	Het
Top1mt	A	G	15: 75,546,247 (GRCm39)	L78P	probably damaging	Het
Uvssa	T	A	5: 33,571,228 (GRCm39)		probably benign	Het
Vmn2r50	A	T	7: 9,784,062 (GRCm39)	C137*	probably null	Het
Vmn2r81	A	G	10: 79,129,691 (GRCm39)	T861A	probably benign	Het
Wnt3	A	T	11: 103,699,077 (GRCm39)	N61I	probably damaging	Het
Zswim9	A	G	7: 13,011,144 (GRCm39)	I68T	possibly damaging	Het
Zzef1	T	C	11: 72,803,771 (GRCm39)	I2535T	probably damaging	Het

Other mutations in Chchd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Chchd3	APN	6	32,945,188 (GRCm39)	missense	probably benign	0.16
IGL01153:Chchd3	APN	6	32,985,502 (GRCm39)	splice site	probably benign
IGL01347:Chchd3	APN	6	32,780,838 (GRCm39)	missense	probably benign	0.04
R0580:Chchd3	UTSW	6	32,870,325 (GRCm39)	critical splice donor site	probably null
R2294:Chchd3	UTSW	6	32,829,122 (GRCm39)	missense	probably damaging	1.00
R2484:Chchd3	UTSW	6	32,780,950 (GRCm39)	missense	possibly damaging	0.47
R5122:Chchd3	UTSW	6	32,945,240 (GRCm39)	missense	probably benign	0.08
R7502:Chchd3	UTSW	6	32,945,164 (GRCm39)	missense	probably damaging	0.97
R8927:Chchd3	UTSW	6	32,780,951 (GRCm39)	missense	probably benign	0.00
R8928:Chchd3	UTSW	6	32,780,951 (GRCm39)	missense	probably benign	0.00
R9233:Chchd3	UTSW	6	32,780,845 (GRCm39)	missense	probably damaging	1.00
R9517:Chchd3	UTSW	6	33,026,317 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CCAAAGGAGTCAAGAACCTATGTTCAGC -3'
(R):5'- GCAGGTGTGGAAAATTCTAAGTCACCAG -3'

Sequencing Primer
(F):5'- gttcacagacatacacgcaag -3'
(R):5'- GTCACCAGGAGAATCTTGATTCAG -3'

Posted On

2014-03-14