Incidental Mutation 'IGL01347:Chchd3'
ID 75113
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chchd3
Ensembl Gene ENSMUSG00000053768
Gene Name coiled-coil-helix-coiled-coil-helix domain containing 3
Synonyms 1700039J09Rik, 0610041L09Rik, Micos19
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01347
Quality Score
Status
Chromosome 6
Chromosomal Location 32769142-33037206 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32780838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 78 (N78S)
Ref Sequence ENSEMBL: ENSMUSP00000121589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066379] [ENSMUST00000124436] [ENSMUST00000127666] [ENSMUST00000129069]
AlphaFold Q9CRB9
Predicted Effect probably benign
Transcript: ENSMUST00000066379
AA Change: N216S

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000070149
Gene: ENSMUSG00000053768
AA Change: N216S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:DUF737 14 84 3e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125264
Predicted Effect probably benign
Transcript: ENSMUST00000127666
SMART Domains Protein: ENSMUSP00000123220
Gene: ENSMUSG00000053768

DomainStartEndE-ValueType
Pfam:DUF737 14 53 7.3e-17 PFAM
Pfam:DUF737 47 180 8.8e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129069
AA Change: N78S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000121589
Gene: ENSMUSG00000053768
AA Change: N78S

DomainStartEndE-ValueType
Pfam:DUF737 1 37 2.9e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140446
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A T 6: 48,909,477 (GRCm39) Y574F probably benign Het
Apc C T 18: 34,450,723 (GRCm39) P2506S probably damaging Het
Bdp1 T A 13: 100,206,711 (GRCm39) K610N possibly damaging Het
Bri3bp T G 5: 125,531,581 (GRCm39) C176G probably damaging Het
Carnmt1 A G 19: 18,668,818 (GRCm39) I248V probably benign Het
Ccdc88b A G 19: 6,822,454 (GRCm39) L1475P probably damaging Het
Cfap100 C T 6: 90,383,103 (GRCm39) V511M possibly damaging Het
Cnnm4 G A 1: 36,537,115 (GRCm39) E480K possibly damaging Het
Cyp2d34 T A 15: 82,500,978 (GRCm39) I385F possibly damaging Het
D930048N14Rik T A 11: 51,545,615 (GRCm39) probably benign Het
Dgkg A T 16: 22,419,340 (GRCm39) D53E probably benign Het
Dlx3 T A 11: 95,011,359 (GRCm39) L71H probably damaging Het
Egln2 A C 7: 26,859,717 (GRCm39) V332G probably null Het
Entpd2 A G 2: 25,288,746 (GRCm39) Q250R probably benign Het
Epyc A G 10: 97,510,593 (GRCm39) D132G probably damaging Het
Fxr2 A G 11: 69,543,114 (GRCm39) D637G probably benign Het
Gapvd1 A G 2: 34,596,708 (GRCm39) probably null Het
Gbp11 G A 5: 105,479,194 (GRCm39) probably benign Het
Gm17175 A T 14: 51,808,307 (GRCm39) C162S probably damaging Het
Gm5499 C T 17: 87,386,339 (GRCm39) noncoding transcript Het
Gps1 T C 11: 120,679,086 (GRCm39) V378A probably benign Het
Grik1 C T 16: 87,754,481 (GRCm39) R368Q probably benign Het
Gsap A G 5: 21,431,318 (GRCm39) E214G probably benign Het
H2bc13 A G 13: 21,900,064 (GRCm39) Y84H probably damaging Het
Jdp2 T C 12: 85,655,020 (GRCm39) S28P probably benign Het
Kif26b T C 1: 178,698,240 (GRCm39) F577S probably damaging Het
Kl G A 5: 150,904,130 (GRCm39) G294D probably damaging Het
Lgsn T A 1: 31,243,041 (GRCm39) D374E probably damaging Het
Lman1 T C 18: 66,124,681 (GRCm39) I353V probably damaging Het
Lmna T C 3: 88,392,270 (GRCm39) H374R probably benign Het
Lrrc57 A G 2: 120,439,286 (GRCm39) S31P probably benign Het
Lum T A 10: 97,404,547 (GRCm39) N147K probably damaging Het
Or6n2 T C 1: 173,897,632 (GRCm39) I256T probably benign Het
Or7a41 A G 10: 78,871,445 (GRCm39) T272A probably benign Het
P4ha3 C A 7: 99,955,140 (GRCm39) L332I probably damaging Het
Pelp1 A G 11: 70,286,505 (GRCm39) I541T probably damaging Het
Pja2 A C 17: 64,620,023 (GRCm39) S2A probably benign Het
Rhbdl3 T C 11: 80,244,268 (GRCm39) L325P probably damaging Het
Robo2 T C 16: 74,149,744 (GRCm39) D28G probably damaging Het
Rpa1 A G 11: 75,198,111 (GRCm39) Y470H probably damaging Het
Rtn3 T C 19: 7,434,645 (GRCm39) N430S probably benign Het
Scg2 T A 1: 79,414,538 (GRCm39) I62L probably benign Het
Scn5a T A 9: 119,391,507 (GRCm39) K62* probably null Het
Sec23ip T C 7: 128,364,129 (GRCm39) V469A probably benign Het
Shank1 A G 7: 43,991,544 (GRCm39) T663A unknown Het
Slco1a7 A T 6: 141,700,192 (GRCm39) Y113* probably null Het
Stab2 G T 10: 86,737,567 (GRCm39) probably null Het
Tmcc3 T C 10: 94,418,147 (GRCm39) L305P probably damaging Het
Tmem145 A G 7: 25,014,260 (GRCm39) N458S probably damaging Het
Tpr G A 1: 150,302,738 (GRCm39) R1412Q probably damaging Het
Wdr1 A T 5: 38,703,058 (GRCm39) F173I possibly damaging Het
Wdr17 C T 8: 55,104,380 (GRCm39) V898I probably benign Het
Wdr64 A T 1: 175,547,899 (GRCm39) L145F probably benign Het
Wnt10b A G 15: 98,674,826 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,298,957 (GRCm39) probably null Het
Other mutations in Chchd3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9517:Chchd3 UTSW 6 33,026,317 (GRCm39) missense probably benign 0.06
Posted On 2013-10-07