Incidental Mutation 'IGL02428:Mcur1'
ID293013
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcur1
Ensembl Gene ENSMUSG00000021371
Gene Namemitochondrial calcium uniporter regulator 1
Synonyms6230416A05Rik, Ccdc90a
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02428
Quality Score
Status
Chromosome13
Chromosomal Location43538393-43560191 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 43541727 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 324 (S324T)
Ref Sequence ENSEMBL: ENSMUSP00000021800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021800]
Predicted Effect probably damaging
Transcript: ENSMUST00000021800
AA Change: S324T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021800
Gene: ENSMUSG00000021371
AA Change: S324T

DomainStartEndE-ValueType
low complexity region 48 80 N/A INTRINSIC
low complexity region 85 125 N/A INTRINSIC
Pfam:DUF1640 147 339 3.7e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223353
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a conditional allele activated in cardiomyocytes exhibit postnatal lethality, reduced body size and impaired mitochondrial calcium uptake. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik T C 14: 32,388,248 probably benign Het
AB124611 C T 9: 21,528,925 S69L possibly damaging Het
Abca6 G A 11: 110,178,792 A1566V possibly damaging Het
Ahnak A G 19: 9,014,833 I4494V possibly damaging Het
Ascc3 T A 10: 50,845,695 Y2081* probably null Het
Cdc42bpb T C 12: 111,323,127 T423A probably benign Het
Cdh6 T A 15: 13,064,430 I125F possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Csmd2 T C 4: 128,474,816 L1845P possibly damaging Het
Epha4 A G 1: 77,506,748 V208A possibly damaging Het
Fanci A G 7: 79,444,516 probably benign Het
Fezf2 T C 14: 12,344,494 E231G probably damaging Het
Flnc A G 6: 29,451,485 D1566G probably damaging Het
Gm11565 A G 11: 99,914,985 T68A probably benign Het
Ifng G A 10: 118,445,254 R154H probably damaging Het
Il1r1 G A 1: 40,313,232 E521K possibly damaging Het
Irf3 G T 7: 44,998,739 L9F probably damaging Het
Jade1 T G 3: 41,613,939 I814S probably benign Het
Kcnh1 G A 1: 192,337,543 W365* probably null Het
Kif16b T C 2: 142,672,360 T1209A possibly damaging Het
Mgat2 C A 12: 69,184,784 A44E probably benign Het
Mgea5 A T 19: 45,765,501 W645R probably damaging Het
Nox1 A G X: 134,107,834 probably benign Het
Olfr608 A T 7: 103,470,383 I115F probably benign Het
Olfr993 A G 2: 85,414,193 S229P probably benign Het
Pcnt A T 10: 76,429,256 I340N probably damaging Het
Pde11a T C 2: 76,046,845 E760G possibly damaging Het
Per3 C T 4: 151,018,217 probably null Het
Rabep1 G A 11: 70,917,480 A421T probably benign Het
Rint1 C T 5: 23,794,452 Q80* probably null Het
Rnaset2b G A 17: 6,981,169 probably null Het
Sccpdh T C 1: 179,680,505 Y237H probably benign Het
Scn10a T A 9: 119,691,562 T91S probably damaging Het
Spock1 A G 13: 57,444,432 probably benign Het
Stat1 A G 1: 52,142,966 probably benign Het
Svil A G 18: 5,118,203 E2212G probably damaging Het
Taok1 T A 11: 77,549,277 R635W probably benign Het
Vmn1r39 A G 6: 66,804,962 I124T probably benign Het
Vmn2r32 T C 7: 7,474,284 I369M probably benign Het
Other mutations in Mcur1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0197:Mcur1 UTSW 13 43545740 missense probably damaging 1.00
R0701:Mcur1 UTSW 13 43545740 missense probably damaging 1.00
R1085:Mcur1 UTSW 13 43555004 missense unknown
R1793:Mcur1 UTSW 13 43560015 missense unknown
R2418:Mcur1 UTSW 13 43549537 missense possibly damaging 0.91
R2419:Mcur1 UTSW 13 43549537 missense possibly damaging 0.91
R2508:Mcur1 UTSW 13 43544465 missense probably damaging 1.00
R4535:Mcur1 UTSW 13 43544540 missense probably damaging 1.00
R4817:Mcur1 UTSW 13 43551671 missense possibly damaging 0.92
R6542:Mcur1 UTSW 13 43551658 missense probably damaging 1.00
R7137:Mcur1 UTSW 13 43544455 critical splice donor site probably null
R7177:Mcur1 UTSW 13 43544536 missense probably damaging 0.98
R7589:Mcur1 UTSW 13 43551625 missense probably damaging 1.00
R7679:Mcur1 UTSW 13 43544483 nonsense probably null
R7859:Mcur1 UTSW 13 43560009 nonsense probably null
Posted On2015-04-16