Incidental Mutation 'IGL01347:Chchd3'
ID75113
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 #IGL01347
Quality Score
Status
Chromosome6
Chromosomal Location32790976-33060260 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32803903 bp
ZygosityHeterozygous
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]
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: ENSMUST00000140446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143206
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
1600015I10Rik A T 6: 48,932,543 Y574F probably benign Het
Apc C T 18: 34,317,670 P2506S probably damaging Het
Bdp1 T A 13: 100,070,203 K610N possibly damaging Het
Bri3bp T G 5: 125,454,517 C176G probably damaging Het
Carnmt1 A G 19: 18,691,454 I248V probably benign Het
Ccdc88b A G 19: 6,845,086 L1475P probably damaging Het
Cfap100 C T 6: 90,406,121 V511M possibly damaging Het
Cnnm4 G A 1: 36,498,034 E480K possibly damaging Het
Cyp2d34 T A 15: 82,616,777 I385F possibly damaging Het
D930048N14Rik T A 11: 51,654,788 probably benign Het
Dgkg A T 16: 22,600,590 D53E probably benign Het
Dlx3 T A 11: 95,120,533 L71H probably damaging Het
Egln2 A C 7: 27,160,292 V332G probably null Het
Entpd2 A G 2: 25,398,734 Q250R probably benign Het
Epyc A G 10: 97,674,731 D132G probably damaging Het
Fxr2 A G 11: 69,652,288 D637G probably benign Het
Gapvd1 A G 2: 34,706,696 probably null Het
Gbp11 G A 5: 105,331,328 probably benign Het
Gm17175 A T 14: 51,570,850 C162S probably damaging Het
Gm5499 C T 17: 87,078,911 noncoding transcript Het
Gm5724 A T 6: 141,754,466 Y113* probably null Het
Gps1 T C 11: 120,788,260 V378A probably benign Het
Grik1 C T 16: 87,957,593 R368Q probably benign Het
Gsap A G 5: 21,226,320 E214G probably benign Het
Hist1h2bl A G 13: 21,715,894 Y84H probably damaging Het
Jdp2 T C 12: 85,608,246 S28P probably benign Het
Kif26b T C 1: 178,870,675 F577S probably damaging Het
Kl G A 5: 150,980,665 G294D probably damaging Het
Lgsn T A 1: 31,203,960 D374E probably damaging Het
Lman1 T C 18: 65,991,610 I353V probably damaging Het
Lmna T C 3: 88,484,963 H374R probably benign Het
Lrrc57 A G 2: 120,608,805 S31P probably benign Het
Lum T A 10: 97,568,685 N147K probably damaging Het
Olfr430 T C 1: 174,070,066 I256T probably benign Het
Olfr57 A G 10: 79,035,611 T272A probably benign Het
P4ha3 C A 7: 100,305,933 L332I probably damaging Het
Pelp1 A G 11: 70,395,679 I541T probably damaging Het
Pja2 A C 17: 64,313,028 S2A probably benign Het
Rhbdl3 T C 11: 80,353,442 L325P probably damaging Het
Robo2 T C 16: 74,352,856 D28G probably damaging Het
Rpa1 A G 11: 75,307,285 Y470H probably damaging Het
Rtn3 T C 19: 7,457,280 N430S probably benign Het
Scg2 T A 1: 79,436,821 I62L probably benign Het
Scn5a T A 9: 119,562,441 K62* probably null Het
Sec23ip T C 7: 128,762,405 V469A probably benign Het
Shank1 A G 7: 44,342,120 T663A unknown Het
Stab2 G T 10: 86,901,703 probably null Het
Tmcc3 T C 10: 94,582,285 L305P probably damaging Het
Tmem145 A G 7: 25,314,835 N458S probably damaging Het
Tpr G A 1: 150,426,987 R1412Q probably damaging Het
Wdr1 A T 5: 38,545,715 F173I possibly damaging Het
Wdr17 C T 8: 54,651,345 V898I probably benign Het
Wdr64 A T 1: 175,720,333 L145F probably benign Het
Wnt10b A G 15: 98,776,945 probably benign Het
Zfyve26 A T 12: 79,252,183 probably null Het
Other mutations in Chchd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Chchd3 APN 6 32968253 missense probably benign 0.16
IGL01153:Chchd3 APN 6 33008567 splice site probably benign
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 On2013-10-07