Incidental Mutation 'IGL03074:Mcu'
ID417619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcu
Ensembl Gene ENSMUSG00000009647
Gene Namemitochondrial calcium uniporter
Synonyms2010012O16Rik, Ccdc109a, D130073L02Rik
Accession Numbers

Genbank: NM_001033259; MGI: 3026965

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03074
Quality Score
Status
Chromosome10
Chromosomal Location59446984-59616692 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59467758 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 86 (S86P)
Ref Sequence ENSEMBL: ENSMUSP00000020312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020312]
Predicted Effect probably damaging
Transcript: ENSMUST00000020312
AA Change: S86P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020312
Gene: ENSMUSG00000009647
AA Change: S86P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 66 77 N/A INTRINSIC
Pfam:MCU 114 319 3.5e-78 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium transporter that localizes to the mitochondrial inner membrane. The encoded protein interacts with mitochondrial calcium uptake 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired calcium-induced permeability transition pore opening, decreased body size and weight, decreased exercise endurance and decreased grip strength. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,310,275 Y433F probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anks4b A T 7: 120,181,917 D57V probably damaging Het
Brwd1 A G 16: 96,011,850 V1486A probably benign Het
Cd163 A G 6: 124,317,986 T670A probably benign Het
Dmtf1 T C 5: 9,124,435 probably benign Het
Dnajc22 T A 15: 99,101,522 L196Q probably damaging Het
Dock9 A G 14: 121,607,270 L1097P possibly damaging Het
Dtna T C 18: 23,602,605 V339A possibly damaging Het
Dysf T A 6: 84,188,226 S1646T probably benign Het
Ermp1 A T 19: 29,612,535 Y893N probably damaging Het
Etv6 A T 6: 134,222,925 N76I probably damaging Het
Farp2 T C 1: 93,560,327 V92A probably benign Het
Fgf21 T C 7: 45,614,181 T158A probably benign Het
Gcm1 T C 9: 78,064,775 S333P possibly damaging Het
Grm7 T A 6: 111,495,643 probably null Het
Itgae T C 11: 73,125,310 F782L probably benign Het
Kbtbd8 A G 6: 95,122,352 T204A probably damaging Het
Kcp A G 6: 29,496,631 C627R probably damaging Het
Loxhd1 T C 18: 77,441,784 V2041A possibly damaging Het
Mcm5 T C 8: 75,119,301 M379T possibly damaging Het
Naa25 T C 5: 121,408,337 probably null Het
Olfr1129 T A 2: 87,575,336 L84H possibly damaging Het
Olfr1472 A G 19: 13,454,053 S155P probably damaging Het
Osbpl9 T C 4: 109,071,961 H400R probably damaging Het
Pip5kl1 A G 2: 32,580,341 N278D probably damaging Het
Ppp1r12b T C 1: 134,836,020 T759A probably benign Het
Psg27 T C 7: 18,560,529 T318A probably benign Het
Rtkn2 T G 10: 68,041,721 L537R probably damaging Het
Sdr39u1 C T 14: 55,899,646 probably null Het
Slc38a1 A T 15: 96,592,524 I124N possibly damaging Het
Sumf2 T A 5: 129,859,833 probably benign Het
Thsd7a A G 6: 12,324,681 Y1464H probably damaging Het
Unc80 C T 1: 66,671,718 probably benign Het
Zfp366 A G 13: 99,246,405 D692G probably benign Het
Other mutations in Mcu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02673:Mcu APN 10 59467644 missense probably damaging 1.00
R0201:Mcu UTSW 10 59456677 missense probably damaging 1.00
R0445:Mcu UTSW 10 59456645 splice site probably benign
R1256:Mcu UTSW 10 59454968 missense probably damaging 1.00
R1497:Mcu UTSW 10 59448848 missense probably damaging 1.00
R2322:Mcu UTSW 10 59454944 critical splice donor site probably null
R2404:Mcu UTSW 10 59467704 missense probably damaging 1.00
R4517:Mcu UTSW 10 59467634 missense probably damaging 1.00
R4666:Mcu UTSW 10 59456699 missense probably damaging 1.00
R4821:Mcu UTSW 10 59467689 missense probably damaging 0.99
R5940:Mcu UTSW 10 59456732 missense possibly damaging 0.94
R6949:Mcu UTSW 10 59456744 missense possibly damaging 0.94
R8054:Mcu UTSW 10 59454995 missense probably damaging 1.00
RF007:Mcu UTSW 10 59491116 missense probably benign 0.00
Z1177:Mcu UTSW 10 59456771 missense probably benign 0.03
Posted On2016-08-02