Incidental Mutation 'IGL02643:Micu1'
ID301815
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Micu1
Ensembl Gene ENSMUSG00000020111
Gene Namemitochondrial calcium uptake 1
SynonymsC730016L05Rik, Cbara1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.581) question?
Stock #IGL02643
Quality Score
Status
Chromosome10
Chromosomal Location59702477-59864132 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59839736 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 380 (D380G)
Ref Sequence ENSEMBL: ENSMUSP00000136567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020311] [ENSMUST00000092508] [ENSMUST00000165563] [ENSMUST00000179709]
Predicted Effect probably damaging
Transcript: ENSMUST00000020311
AA Change: D386G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020311
Gene: ENSMUSG00000020111
AA Change: D386G

DomainStartEndE-ValueType
low complexity region 89 94 N/A INTRINSIC
EFh 230 258 8.16e-1 SMART
EFh 420 448 4.12e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000092508
AA Change: D384G

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000090166
Gene: ENSMUSG00000020111
AA Change: D384G

DomainStartEndE-ValueType
low complexity region 89 94 N/A INTRINSIC
EFh 228 256 8.16e-1 SMART
EFh 418 446 4.12e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165563
AA Change: D380G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126597
Gene: ENSMUSG00000020111
AA Change: D380G

DomainStartEndE-ValueType
low complexity region 89 94 N/A INTRINSIC
EFh 224 252 8.16e-1 SMART
EFh 414 442 4.12e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169842
Predicted Effect probably damaging
Transcript: ENSMUST00000179709
AA Change: D380G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136567
Gene: ENSMUSG00000020111
AA Change: D380G

DomainStartEndE-ValueType
low complexity region 89 94 N/A INTRINSIC
EFh 224 252 8.16e-1 SMART
EFh 414 442 4.12e-3 SMART
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 an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T G 5: 121,631,570 M608L probably benign Het
Adamts2 A T 11: 50,788,700 M836L probably benign Het
Ankrd11 A T 8: 122,892,322 M1597K probably damaging Het
Arhgef17 A T 7: 100,883,882 F1145L possibly damaging Het
Atp13a3 A T 16: 30,333,796 W32R probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Bod1l T A 5: 41,818,805 E1722V possibly damaging Het
Ceacam16 A G 7: 19,861,161 probably benign Het
Col14a1 T A 15: 55,420,862 Y840N unknown Het
Dlg5 A G 14: 24,191,182 C132R probably damaging Het
Dock4 T A 12: 40,668,430 N242K probably damaging Het
Dsg3 G A 18: 20,528,955 V426I probably benign Het
Dync1h1 T C 12: 110,659,272 probably benign Het
Flvcr2 T A 12: 85,796,223 M357K possibly damaging Het
Gapvd1 A G 2: 34,704,180 S932P probably damaging Het
Gata4 T A 14: 63,204,755 D205V possibly damaging Het
Gm5244 T C 19: 12,846,936 noncoding transcript Het
Kcnk2 T A 1: 189,258,779 I195L possibly damaging Het
Krt1 T C 15: 101,847,044 I427V probably benign Het
Mapk1ip1l T A 14: 47,310,882 H162Q possibly damaging Het
Mknk2 A C 10: 80,668,601 L289R probably damaging Het
Myo18a A T 11: 77,778,172 N286I possibly damaging Het
Olfr291 A T 7: 84,857,031 I221F probably damaging Het
Pdp1 C T 4: 11,962,062 R83H probably benign Het
Ptafr A C 4: 132,580,126 I276L probably benign Het
Rab3gap2 A T 1: 185,267,000 D968V possibly damaging Het
Samd8 T A 14: 21,793,144 M447K probably damaging Het
Six5 G T 7: 19,097,530 V649L probably benign Het
Slc1a2 T A 2: 102,739,880 F168I probably benign Het
Slc1a7 G A 4: 108,012,300 V521M possibly damaging Het
Soga1 A G 2: 157,040,743 V463A probably damaging Het
Sorbs1 T C 19: 40,365,133 D206G possibly damaging Het
Stim2 T C 5: 54,110,613 V417A probably damaging Het
Tbx20 A G 9: 24,773,713 probably benign Het
Tia1 A G 6: 86,416,390 I71V probably benign Het
Ttc7 T C 17: 87,340,899 S509P possibly damaging Het
Ttpal A G 2: 163,607,220 probably benign Het
Tubgcp2 A T 7: 139,996,154 N865K probably damaging Het
Wdr45 G T X: 7,727,049 E62* probably null Het
Zfp507 A G 7: 35,795,231 F129S probably damaging Het
Zfp518b T A 5: 38,674,155 H169L probably damaging Het
Other mutations in Micu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01982:Micu1 APN 10 59863278 missense possibly damaging 0.55
IGL03183:Micu1 APN 10 59728048 nonsense probably null
R0025:Micu1 UTSW 10 59788877 critical splice acceptor site probably null
R0645:Micu1 UTSW 10 59839681 missense possibly damaging 0.95
R0988:Micu1 UTSW 10 59756727 intron probably benign
R1121:Micu1 UTSW 10 59788982 missense possibly damaging 0.50
R1334:Micu1 UTSW 10 59788976 missense probably damaging 1.00
R1762:Micu1 UTSW 10 59863260 missense possibly damaging 0.70
R1925:Micu1 UTSW 10 59733161 splice site probably benign
R1976:Micu1 UTSW 10 59768213 missense probably damaging 1.00
R2082:Micu1 UTSW 10 59863307 missense probably benign 0.00
R2152:Micu1 UTSW 10 59863288 missense probably benign 0.01
R2395:Micu1 UTSW 10 59863202 nonsense probably null
R3619:Micu1 UTSW 10 59768258 splice site probably null
R3953:Micu1 UTSW 10 59750504 missense probably benign 0.01
R4809:Micu1 UTSW 10 59740822 missense probably benign
R4948:Micu1 UTSW 10 59863254 missense possibly damaging 0.56
R5103:Micu1 UTSW 10 59788984 missense possibly damaging 0.79
R5137:Micu1 UTSW 10 59827232 missense probably benign 0.20
R5431:Micu1 UTSW 10 59750521 missense possibly damaging 0.92
R5805:Micu1 UTSW 10 59827306 missense possibly damaging 0.46
R6910:Micu1 UTSW 10 59740667 missense probably damaging 1.00
R7030:Micu1 UTSW 10 59789021 missense possibly damaging 0.92
R7845:Micu1 UTSW 10 59839785 critical splice donor site probably null
Z1177:Micu1 UTSW 10 59728041 missense probably benign 0.00
Posted On2015-04-16