Incidental Mutation 'IGL00959:Chchd3'
ID27679
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chchd3
Ensembl Gene ENSMUSG00000053768
Gene Namecoiled-coil-helix-coiled-coil-helix domain containing 3
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00959
Quality Score
Status
Chromosome6
Chromosomal Location32790976-33060260 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32968253 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 106 (V106A)
Ref Sequence ENSEMBL: ENSMUSP00000070149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066379] [ENSMUST00000115091] [ENSMUST00000124436] [ENSMUST00000127666]
Predicted Effect probably benign
Transcript: ENSMUST00000066379
AA Change: V106A

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000070149
Gene: ENSMUSG00000053768
AA Change: V106A

DomainStartEndE-ValueType
Pfam:DUF737 14 53 2.4e-16 PFAM
Pfam:DUF737 47 175 2.9e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115091
AA Change: V106A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000110743
Gene: ENSMUSG00000053768
AA Change: V106A

DomainStartEndE-ValueType
Pfam:DUF737 14 175 6.4e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124436
SMART Domains Protein: ENSMUSP00000138484
Gene: ENSMUSG00000053768

DomainStartEndE-ValueType
Pfam:DUF737 14 84 3e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127666
AA Change: V106A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000123220
Gene: ENSMUSG00000053768
AA Change: V106A

DomainStartEndE-ValueType
Pfam:DUF737 14 53 7.3e-17 PFAM
Pfam:DUF737 47 180 8.8e-40 PFAM
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b A T 11: 69,166,243 H430L probably damaging Het
Aox4 G T 1: 58,239,174 V443F probably damaging Het
Bmpr2 A T 1: 59,815,315 I108F possibly damaging Het
Cflar G A 1: 58,729,162 probably null Het
Chl1 G T 6: 103,709,250 probably null Het
Clvs2 C T 10: 33,528,463 M252I probably benign Het
Cntnap5a T A 1: 116,184,327 L449Q probably benign Het
Col6a2 T A 10: 76,614,534 I188F probably damaging Het
Cyp2c55 A G 19: 39,038,143 D398G probably benign Het
Dennd1b T C 1: 139,143,888 probably benign Het
Dopey1 T A 9: 86,487,431 Y106N probably damaging Het
Dpy19l1 A T 9: 24,423,197 probably null Het
Extl3 C T 14: 65,076,912 V274I probably benign Het
Fras1 G A 5: 96,781,281 R3848H probably damaging Het
Gm11437 A C 11: 84,148,622 probably benign Het
Gss T A 2: 155,581,951 D2V probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ilvbl G A 10: 78,583,905 D548N probably damaging Het
Jmjd6 A T 11: 116,842,376 D115E possibly damaging Het
Kidins220 T A 12: 25,051,133 S1110R possibly damaging Het
Kmt2c T A 5: 25,276,229 I4784F probably damaging Het
Mrpl52 T C 14: 54,427,037 V11A possibly damaging Het
Myo3b A G 2: 70,314,292 Y1036C probably damaging Het
Olfr769 T A 10: 129,112,024 M134L probably benign Het
Omp T C 7: 98,145,150 D90G probably damaging Het
Osmr T C 15: 6,824,605 I541V probably benign Het
Ppp1r32 A T 19: 10,477,523 probably null Het
Ppp2r1a A T 17: 20,961,578 probably benign Het
Ptpn13 T A 5: 103,517,571 probably null Het
Rock2 C A 12: 16,978,055 N1429K probably benign Het
Slc25a20 T G 9: 108,681,999 M188R possibly damaging Het
Slc28a1 T C 7: 81,169,068 probably benign Het
Sult2a6 T C 7: 14,254,709 Y42C probably damaging Het
Tgfb2 A G 1: 186,704,587 V63A probably benign Het
Ugt2b38 A T 5: 87,411,823 N403K probably damaging Het
Vmn2r29 A G 7: 7,241,856 W340R probably benign Het
Wnt5a C T 14: 28,522,909 T351M probably damaging Het
Other mutations in Chchd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Chchd3 APN 6 33008567 splice site probably benign
IGL01347:Chchd3 APN 6 32803903 missense probably benign 0.04
R0580:Chchd3 UTSW 6 32893390 critical splice donor site probably null
R1438:Chchd3 UTSW 6 33008568 splice site probably benign
R2294:Chchd3 UTSW 6 32852187 missense probably damaging 1.00
R2484:Chchd3 UTSW 6 32804015 missense possibly damaging 0.47
R5122:Chchd3 UTSW 6 32968305 missense probably benign 0.08
R7502:Chchd3 UTSW 6 32968229 missense probably damaging 0.97
Posted On2013-04-17