Mutagenetix > Incidental Mutation

Incidental Mutation 'R9517:Chchd3'

718643

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9517 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32769142-33037206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33026317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 42 (S42T)

Ref Sequence

ENSEMBL: ENSMUSP00000070149 (fasta)

Gene Model

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

AlphaFold

Q9CRB9

Predicted Effect

probably benign
Transcript: ENSMUST00000066379
AA Change: S42T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000070149
Gene: ENSMUSG00000053768
AA Change: S42T

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
AA Change: S42T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110743
Gene: ENSMUSG00000053768
AA Change: S42T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124436
AA Change: S42T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000138484
Gene: ENSMUSG00000053768
AA Change: S42T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127666
AA Change: S42T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123220
Gene: ENSMUSG00000053768
AA Change: S42T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,113,528 (GRCm39)	V264E	probably damaging	Het
Abca15	A	G	7: 119,987,424 (GRCm39)	I1237V	probably benign	Het
Actn2	G	T	13: 12,295,317 (GRCm39)	Q552K	probably damaging	Het
Adnp	A	T	2: 168,024,866 (GRCm39)	C810S	possibly damaging	Het
Aip	A	T	19: 4,168,217 (GRCm39)	I50K	possibly damaging	Het
Arsk	A	G	13: 76,210,638 (GRCm39)	S470P	probably damaging	Het
Aspm	T	A	1: 139,407,167 (GRCm39)	I2018K	probably damaging	Het
Aspn	G	A	13: 49,705,275 (GRCm39)	D46N		Het
C6	G	T	15: 4,827,914 (GRCm39)	C761F	probably damaging	Het
Cdk12	A	T	11: 98,109,910 (GRCm39)	T644S	unknown	Het
Cela3a	T	A	4: 137,131,825 (GRCm39)	I123F	probably damaging	Het
Chst5	A	G	8: 112,616,652 (GRCm39)	S323P	possibly damaging	Het
Clec4g	C	A	8: 3,767,452 (GRCm39)	A198S	probably damaging	Het
Dcbld2	T	G	16: 58,253,819 (GRCm39)	D185E	probably benign	Het
Dnah17	A	G	11: 117,915,440 (GRCm39)	V4393A	possibly damaging	Het
Dock9	T	C	14: 121,829,236 (GRCm39)	T1392A	probably benign	Het
Ell2	A	G	13: 75,912,106 (GRCm39)	K464R	possibly damaging	Het
Eme2	G	A	17: 25,114,033 (GRCm39)		probably benign	Het
Eps8l1	T	A	7: 4,480,636 (GRCm39)	I530N	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbxw25	A	G	9: 109,480,892 (GRCm39)	Y263H		Het
Frem1	T	C	4: 82,901,714 (GRCm39)	Y938C	probably damaging	Het
Gdf10	A	G	14: 33,654,522 (GRCm39)	D343G	probably benign	Het
Gm3415	C	T	5: 146,493,406 (GRCm39)	R84C	possibly damaging	Het
Hap1	A	T	11: 100,240,188 (GRCm39)	V536D	possibly damaging	Het
Icos	T	C	1: 61,032,894 (GRCm39)	F31S	probably damaging	Het
Inpp5d	T	A	1: 87,638,853 (GRCm39)	S812T	probably benign	Het
Kcng4	A	G	8: 120,353,070 (GRCm39)	V280A	probably benign	Het
Ldlr	T	C	9: 21,655,240 (GRCm39)	V623A	possibly damaging	Het
Lipc	T	C	9: 70,709,560 (GRCm39)	T396A	probably benign	Het
Lrit2	T	A	14: 36,794,272 (GRCm39)	C445*	probably null	Het
Lrrc37	G	A	11: 103,433,416 (GRCm39)	T3251I	unknown	Het
Mcc	C	A	18: 44,794,794 (GRCm39)	G10C	probably damaging	Het
Mtfr1l	T	C	4: 134,256,515 (GRCm39)	T217A	probably benign	Het
Mtrr	A	T	13: 68,728,730 (GRCm39)	S23R	probably benign	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myo7a	A	T	7: 97,721,166 (GRCm39)	D1255E	probably damaging	Het
Nfatc1	T	C	18: 80,725,406 (GRCm39)	K453E	probably damaging	Het
Nrap	A	T	19: 56,360,277 (GRCm39)	M466K	probably benign	Het
Or10j3	C	A	1: 173,031,346 (GRCm39)	A141D	possibly damaging	Het
Or11g26	C	A	14: 50,752,770 (GRCm39)	F36L	probably benign	Het
Or4c106	G	A	2: 88,682,947 (GRCm39)	V218I	probably benign	Het
Or4f54	T	G	2: 111,123,033 (GRCm39)	M140R	possibly damaging	Het
Or8b41	T	A	9: 38,054,623 (GRCm39)	M59K	probably damaging	Het
Osbpl1a	A	G	18: 13,042,965 (GRCm39)	V192A	probably benign	Het
Pgd	T	C	4: 149,249,668 (GRCm39)	T35A	possibly damaging	Het
Plcxd3	G	T	15: 4,405,160 (GRCm39)		probably benign	Het
Pramel23	T	A	4: 143,424,930 (GRCm39)	D171V	possibly damaging	Het
Prmt7	A	G	8: 106,953,930 (GRCm39)	T124A	probably damaging	Het
Pzp	A	G	6: 128,489,117 (GRCm39)		probably null	Het
Rilpl2	A	G	5: 124,607,788 (GRCm39)	V144A	probably benign	Het
Rin3	T	C	12: 102,334,895 (GRCm39)	S269P	unknown	Het
Setbp1	T	C	18: 78,901,322 (GRCm39)	S782G	probably damaging	Het
Sgce	A	T	6: 4,694,153 (GRCm39)	F268I	probably damaging	Het
Sox6	A	G	7: 115,111,970 (GRCm39)	L552S	possibly damaging	Het
Tent4a	A	G	13: 69,655,059 (GRCm39)	C472R	probably damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r11	A	G	6: 57,114,555 (GRCm39)	D73G	possibly damaging	Het
Vmn1r39	A	C	6: 66,782,258 (GRCm39)	I20R	possibly damaging	Het
Vmn2r82	C	T	10: 79,213,641 (GRCm39)	R76*	probably null	Het
Zhx1	A	T	15: 57,915,812 (GRCm39)	Y811*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AGTTTGAAAGCAGAACTAAGCATT -3'
(R):5'- AAAGGAGTAGTGCTGTGGGC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GCGTGGCCTGTTTTTGC -3'

Posted On

2022-07-18