Mutagenetix > Incidental Mutation

Incidental Mutation 'R8927:Chchd3'

690148

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

068771-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8927 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32769142-33037206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32780951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 178 (E178D)

Ref Sequence

ENSEMBL: ENSMUSP00000070149 (fasta)

Gene Model

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

AlphaFold

Q9CRB9

Predicted Effect

probably benign
Transcript: ENSMUST00000066379
AA Change: E178D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000070149
Gene: ENSMUSG00000053768
AA Change: E178D

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: 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
AA Change: E183D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000123220
Gene: ENSMUSG00000053768
AA Change: E183D

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 benign
Transcript: ENSMUST00000129069
AA Change: E40D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121589
Gene: ENSMUSG00000053768
AA Change: E40D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (78/79)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 97,867,367 (GRCm39)	H198Q	probably damaging	Het
Abcb9	T	C	5: 124,221,706 (GRCm39)	T223A	probably benign	Het
Actc1	T	A	2: 113,880,881 (GRCm39)	K115*	probably null	Het
Angptl2	G	A	2: 33,132,316 (GRCm39)	D308N	probably benign	Het
Arl4d	A	C	11: 101,557,892 (GRCm39)	Q139H	possibly damaging	Het
Aspm	T	A	1: 139,418,125 (GRCm39)	C2951*	probably null	Het
Atp23	A	T	10: 126,723,362 (GRCm39)	*247R	probably null	Het
B3gnt7	T	A	1: 86,232,839 (GRCm39)	S28R	probably benign	Het
Bmp7	C	T	2: 172,721,211 (GRCm39)	R288H	probably damaging	Het
Bsdc1	G	T	4: 129,355,439 (GRCm39)		probably benign	Het
Capn13	T	C	17: 73,631,761 (GRCm39)		probably null	Het
Ccdc146	T	C	5: 21,538,060 (GRCm39)	E88G	probably damaging	Het
Ccdc73	C	A	2: 104,822,542 (GRCm39)	D2E		Het
Cdc5l	C	A	17: 45,721,839 (GRCm39)	R477L		Het
Cdh22	T	A	2: 164,965,504 (GRCm39)	H529L	possibly damaging	Het
Ciz1	A	T	2: 32,257,512 (GRCm39)	R186*	probably null	Het
Col4a2	A	G	8: 11,475,543 (GRCm39)		probably null	Het
Copa	T	A	1: 171,931,737 (GRCm39)	H329Q	probably null	Het
Dcaf7	A	G	11: 105,942,752 (GRCm39)	D233G	probably damaging	Het
Dclk2	G	T	3: 86,739,048 (GRCm39)	P317Q	probably damaging	Het
Dgat2	T	C	7: 98,818,710 (GRCm39)	Y90C	probably benign	Het
Dsc3	A	T	18: 20,107,234 (GRCm39)	H462Q	probably benign	Het
Fam151a	T	A	4: 106,603,242 (GRCm39)		probably benign	Het
Fn1	T	C	1: 71,638,535 (GRCm39)	N1998S	probably benign	Het
Fpr2	T	C	17: 18,113,724 (GRCm39)	L240S	possibly damaging	Het
Fzd9	A	T	5: 135,278,589 (GRCm39)	M432K	probably damaging	Het
Gm5862	T	A	5: 26,226,678 (GRCm39)	I75F	probably damaging	Het
Gpr45	T	A	1: 43,072,314 (GRCm39)	V319D	probably damaging	Het
H4c11	T	C	13: 21,919,525 (GRCm39)	V87A	possibly damaging	Het
Igfn1	T	A	1: 135,905,984 (GRCm39)	R275W	probably damaging	Het
Inafm1	G	A	7: 16,006,980 (GRCm39)	A79V	unknown	Het
Itfg1	C	T	8: 86,567,420 (GRCm39)		probably benign	Het
Kcnt2	T	A	1: 140,356,535 (GRCm39)		probably null	Het
Klhl35	T	G	7: 99,120,221 (GRCm39)	I366S	probably damaging	Het
Lysmd1	A	T	3: 95,045,831 (GRCm39)	I223F	probably damaging	Het
Mrps30	A	G	13: 118,523,205 (GRCm39)	L189P	probably damaging	Het
Ms4a4d	A	C	19: 11,533,574 (GRCm39)	T152P	probably benign	Het
Mtcl1	A	T	17: 66,755,628 (GRCm39)	I238K	probably benign	Het
Musk	T	C	4: 58,301,638 (GRCm39)	I132T	probably damaging	Het
Myh2	A	T	11: 67,079,509 (GRCm39)	M989L	probably benign	Het
Myh8	G	A	11: 67,174,081 (GRCm39)	R172H	probably benign	Het
Nt5c1a	C	T	4: 123,102,281 (GRCm39)	T69M	possibly damaging	Het
Nuak2	T	A	1: 132,255,916 (GRCm39)	D196E	probably damaging	Het
Or52h7	A	T	7: 104,214,229 (GRCm39)	H267L	probably damaging	Het
Or5ap2	A	T	2: 85,679,918 (GRCm39)	I41F	possibly damaging	Het
Or5t7	T	C	2: 86,507,630 (GRCm39)	T16A	probably benign	Het
Or8k53	T	C	2: 86,178,090 (GRCm39)	T7A	possibly damaging	Het
Or8s10	A	G	15: 98,336,519 (GRCm39)		probably benign	Het
Palb2	A	T	7: 121,723,821 (GRCm39)	C643S	probably damaging	Het
Pde5a	T	A	3: 122,633,249 (GRCm39)	I706N	probably damaging	Het
Pdlim4	T	C	11: 53,950,790 (GRCm39)	R100G	probably benign	Het
Pip5k1c	T	A	10: 81,128,906 (GRCm39)	V5E	possibly damaging	Het
Pira1	A	C	7: 3,742,358 (GRCm39)	N56K	probably benign	Het
Plekhm1	A	G	11: 103,268,039 (GRCm39)	V644A	probably benign	Het
Plk2	T	G	13: 110,535,750 (GRCm39)	V524G	probably damaging	Het
Ppl	T	A	16: 4,905,474 (GRCm39)	N1607I	probably benign	Het
Prag1	T	G	8: 36,614,360 (GRCm39)	V1304G	probably damaging	Het
Prex1	C	T	2: 166,426,995 (GRCm39)	V1077M	probably damaging	Het
Prmt6	T	C	3: 110,158,248 (GRCm39)	S14G	probably benign	Het
Psrc1	T	G	3: 108,293,973 (GRCm39)	S263R	probably damaging	Het
Qrfprl	C	A	6: 65,358,597 (GRCm39)	S107*	probably null	Het
Rbp7	A	T	4: 149,537,958 (GRCm39)	L36*	probably null	Het
Rgs12	G	T	5: 35,123,633 (GRCm39)	W472L	possibly damaging	Het
Rrp8	C	A	7: 105,384,073 (GRCm39)	C143F	possibly damaging	Het
Sart1	T	C	19: 5,438,529 (GRCm39)	S43G	probably benign	Het
Setx	A	G	2: 29,016,971 (GRCm39)	T25A	possibly damaging	Het
Skint5	G	A	4: 113,341,099 (GRCm39)	T1414I	probably benign	Het
Sorbs2	T	A	8: 46,248,952 (GRCm39)	S734R	probably damaging	Het
Spata31g1	A	T	4: 42,972,251 (GRCm39)	Y528F	probably benign	Het
Spon1	T	C	7: 113,629,592 (GRCm39)		probably null	Het
Sptbn1	C	T	11: 30,088,962 (GRCm39)	V767I	probably damaging	Het
Srf	T	C	17: 46,860,095 (GRCm39)	I477V	probably damaging	Het
Tanc2	A	G	11: 105,701,331 (GRCm39)	Y282C	probably damaging	Het
Tbc1d23	A	G	16: 56,992,152 (GRCm39)	Y603H	probably damaging	Het
Tdpoz6	T	A	3: 93,599,950 (GRCm39)	T140S	probably benign	Het
Tfap4	T	C	16: 4,369,218 (GRCm39)	D134G	probably damaging	Het
Tmem200c	A	G	17: 69,148,733 (GRCm39)	T439A	probably benign	Het
Tmem63b	A	T	17: 45,975,908 (GRCm39)	M515K	probably damaging	Het
Tnc	A	T	4: 63,925,595 (GRCm39)	N980K	probably damaging	Het
Ttc23l	T	A	15: 10,530,720 (GRCm39)	L297F	probably damaging	Het
Vinac1	A	G	2: 128,882,789 (GRCm39)	S76P		Het
Vmn1r170	A	G	7: 23,305,814 (GRCm39)	N72S	possibly damaging	Het
Vmn2r8	T	C	5: 108,950,131 (GRCm39)	M239V		Het
Vopp1	A	G	6: 57,731,578 (GRCm39)	F138L	probably damaging	Het
Vps41	T	A	13: 18,929,501 (GRCm39)	F79I	probably benign	Het
Zfp317	T	C	9: 19,552,521 (GRCm39)	M1T	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
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'- CTGGGATGACTGGGCTTTCTAC -3'
(R):5'- TTAGACTGCAAGGACCAGATC -3'

Sequencing Primer
(F):5'- ACTTTTCAGGTGCCCCAGTCAG -3'
(R):5'- CTGCAAGGACCAGATCTTCATGG -3'

Posted On

2021-11-19