Mutagenetix > Incidental Mutation

Incidental Mutation 'R2294:Chchd3'

245096

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

040293-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32769142-33037206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32829122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 166 (E166G)

Ref Sequence

ENSEMBL: ENSMUSP00000123220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066379] [ENSMUST00000115091] [ENSMUST00000124436] [ENSMUST00000127666] [ENSMUST00000129069]

AlphaFold

Q9CRB9

Predicted Effect

probably damaging
Transcript: ENSMUST00000066379
AA Change: E161G

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

SMART Domains

Protein: ENSMUSP00000070149
Gene: ENSMUSG00000053768
AA Change: E161G

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 damaging
Transcript: ENSMUST00000115091
AA Change: E161G

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

SMART Domains

Protein: ENSMUSP00000110743
Gene: ENSMUSG00000053768
AA Change: E161G

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

noncoding transcript
Transcript: ENSMUST00000125264

Predicted Effect

probably damaging
Transcript: ENSMUST00000127666
AA Change: E166G

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

SMART Domains

Protein: ENSMUSP00000123220
Gene: ENSMUSG00000053768
AA Change: E166G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129069
AA Change: E23G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121589
Gene: ENSMUSG00000053768
AA Change: E23G

Domain	Start	End	E-Value	Type
Pfam:DUF737	1	37	2.9e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143206

Meta Mutation Damage Score

0.8277

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (30/30)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	C	T	15: 98,495,322 (GRCm39)	V673I	possibly damaging	Het
Bsn	C	T	9: 107,990,266 (GRCm39)	A1829T	possibly damaging	Het
Chrna7	A	T	7: 62,760,172 (GRCm39)	S135T	probably benign	Het
Dxo	G	A	17: 35,057,962 (GRCm39)		probably null	Het
Fbxw18	A	G	9: 109,505,865 (GRCm39)	S469P	probably damaging	Het
G3bp2	G	A	5: 92,205,887 (GRCm39)	R290C	probably damaging	Het
Hydin	T	C	8: 111,026,591 (GRCm39)	L103P	probably damaging	Het
Lrig3	C	T	10: 125,802,363 (GRCm39)	R7*	probably null	Het
Lrp6	A	G	6: 134,434,705 (GRCm39)	C1333R	probably damaging	Het
Luzp2	T	C	7: 54,821,938 (GRCm39)		probably benign	Het
Lypd8	A	T	11: 58,277,680 (GRCm39)	N154I	probably damaging	Het
Ndufs1	A	T	1: 63,200,155 (GRCm39)	D252E	probably damaging	Het
Nos3	T	A	5: 24,569,855 (GRCm39)	V7E	probably damaging	Het
Or1e33	A	G	11: 73,738,312 (GRCm39)	L213P	probably damaging	Het
Osbpl6	A	T	2: 76,407,423 (GRCm39)	D446V	possibly damaging	Het
Pik3c2b	C	A	1: 132,994,513 (GRCm39)	P159H	probably damaging	Het
Pkhd1l1	C	T	15: 44,343,003 (GRCm39)	T160I	probably damaging	Het
Prelid3a	C	T	18: 67,605,941 (GRCm39)	T16M	probably damaging	Het
Prl7b1	A	T	13: 27,786,854 (GRCm39)	M125K	possibly damaging	Het
Rars1	C	A	11: 35,708,363 (GRCm39)		probably benign	Het
Ripk1	A	G	13: 34,200,991 (GRCm39)	T235A	probably benign	Het
Slc38a2	C	A	15: 96,589,643 (GRCm39)	V363L	probably benign	Het
Slc6a21	G	A	7: 44,929,952 (GRCm39)	A147T	possibly damaging	Het
Tgfb3	T	C	12: 86,116,684 (GRCm39)	N118S	probably benign	Het
Tmem175	T	C	5: 108,786,525 (GRCm39)		probably benign	Het
Tmem232	A	T	17: 65,757,436 (GRCm39)	N252K	probably benign	Het
Trappc8	G	T	18: 20,999,211 (GRCm39)	C305*	probably null	Het
Tyro3	T	C	2: 119,636,126 (GRCm39)	V223A	probably damaging	Het
Yipf2	C	T	9: 21,501,177 (GRCm39)	V74M	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
R1438:Chchd3	UTSW	6	32,985,503 (GRCm39)	splice site	probably benign
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'- GATTGAGCAGCAACAATCTTTCAC -3'
(R):5'- CTGCCATTTAAATTAGTGGCCTTC -3'

Sequencing Primer
(F):5'- GCAGCAACAATCTTTCACAAATGTTC -3'
(R):5'- GGCCTTCCAAGTGTTTAAGTAC -3'

Posted On

2014-10-30