Incidental Mutation 'R7859:Mcur1'
ID 607379
Institutional Source Beutler Lab
Gene Symbol Mcur1
Ensembl Gene ENSMUSG00000021371
Gene Name mitochondrial calcium uniporter regulator 1
Synonyms Ccdc90a, 6230416A05Rik
MMRRC Submission 045912-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7859 (G1)
Quality Score 124.008
Status Not validated
Chromosome 13
Chromosomal Location 43691869-43713667 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 43713485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 40 (R40*)
Ref Sequence ENSEMBL: ENSMUSP00000021800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021800]
AlphaFold Q9CXD6
Predicted Effect probably null
Transcript: ENSMUST00000021800
AA Change: R40*
SMART Domains Protein: ENSMUSP00000021800
Gene: ENSMUSG00000021371
AA Change: R40*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,603,500 (GRCm39) L564P probably damaging Het
Arsb T A 13: 93,998,615 (GRCm39) S308T probably benign Het
Atxn10 A G 15: 85,346,526 (GRCm39) D428G probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Cd300a T C 11: 114,784,165 (GRCm39) Y58H probably benign Het
Cemip2 T A 19: 21,809,539 (GRCm39) I973N possibly damaging Het
Crkl T A 16: 17,286,960 (GRCm39) M172K probably damaging Het
Cyfip1 T C 7: 55,549,774 (GRCm39) I647T probably damaging Het
Dlgap1 A G 17: 70,823,683 (GRCm39) T223A probably benign Het
Dmtf1 T C 5: 9,178,044 (GRCm39) S372G probably damaging Het
Dock8 G A 19: 25,160,934 (GRCm39) V1814M probably damaging Het
Dusp22 A C 13: 30,892,737 (GRCm39) K171N probably benign Het
Evi2a T C 11: 79,418,452 (GRCm39) S53G probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kndc1 A T 7: 139,500,880 (GRCm39) D723V possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mgam T A 6: 40,717,113 (GRCm39) N265K possibly damaging Het
Muc6 G A 7: 141,231,687 (GRCm39) T1069I probably damaging Het
Myh2 T C 11: 67,077,526 (GRCm39) L887P probably damaging Het
Myo1d T G 11: 80,575,203 (GRCm39) D171A probably damaging Het
Nat2 T A 8: 67,954,002 (GRCm39) F37L probably damaging Het
Nkx2-2 A G 2: 147,019,730 (GRCm39) C236R unknown Het
Nrl G A 14: 55,759,582 (GRCm39) S115L probably benign Het
Nrsn1 A C 13: 25,446,254 (GRCm39) S41A probably damaging Het
Or5b12 T A 19: 12,897,346 (GRCm39) E109V probably damaging Het
Pax8 T A 2: 24,311,567 (GRCm39) H456L possibly damaging Het
Pkd1 T A 17: 24,790,254 (GRCm39) I979K probably damaging Het
Prex2 A G 1: 11,150,274 (GRCm39) N149D probably damaging Het
Psg28 A T 7: 18,160,149 (GRCm39) V349D probably damaging Het
Ptpro G A 6: 137,369,805 (GRCm39) probably null Het
Sema4d T A 13: 51,876,387 (GRCm39) K94N probably benign Het
Slc22a22 A T 15: 57,114,348 (GRCm39) D326E probably benign Het
Slc25a29 G A 12: 108,792,756 (GRCm39) T274I probably benign Het
Slc43a1 T C 2: 84,687,220 (GRCm39) F374L possibly damaging Het
Syne1 G T 10: 5,107,683 (GRCm39) Q520K possibly damaging Het
Taar4 T C 10: 23,837,032 (GRCm39) V214A probably benign Het
Tex22 T A 12: 113,052,103 (GRCm39) C54S possibly damaging Het
Tpo T A 12: 30,150,573 (GRCm39) I436F probably damaging Het
Usp53 T C 3: 122,743,415 (GRCm39) H507R possibly damaging Het
Usp54 T C 14: 20,638,204 (GRCm39) E255G probably benign Het
Vmn2r109 G T 17: 20,761,436 (GRCm39) F640L probably damaging Het
Vmn2r124 A G 17: 18,282,212 (GRCm39) Y80C probably damaging Het
Vmn2r27 A T 6: 124,201,201 (GRCm39) I252K probably benign Het
Zfp457 A G 13: 67,454,445 (GRCm39) probably benign Het
Other mutations in Mcur1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02428:Mcur1 APN 13 43,695,203 (GRCm39) missense probably damaging 1.00
R0197:Mcur1 UTSW 13 43,699,216 (GRCm39) missense probably damaging 1.00
R0701:Mcur1 UTSW 13 43,699,216 (GRCm39) missense probably damaging 1.00
R1085:Mcur1 UTSW 13 43,708,480 (GRCm39) missense unknown
R1793:Mcur1 UTSW 13 43,713,491 (GRCm39) missense unknown
R2418:Mcur1 UTSW 13 43,703,013 (GRCm39) missense possibly damaging 0.91
R2419:Mcur1 UTSW 13 43,703,013 (GRCm39) missense possibly damaging 0.91
R2508:Mcur1 UTSW 13 43,697,941 (GRCm39) missense probably damaging 1.00
R4535:Mcur1 UTSW 13 43,698,016 (GRCm39) missense probably damaging 1.00
R4817:Mcur1 UTSW 13 43,705,147 (GRCm39) missense possibly damaging 0.92
R6542:Mcur1 UTSW 13 43,705,134 (GRCm39) missense probably damaging 1.00
R7137:Mcur1 UTSW 13 43,697,931 (GRCm39) critical splice donor site probably null
R7177:Mcur1 UTSW 13 43,698,012 (GRCm39) missense probably damaging 0.98
R7589:Mcur1 UTSW 13 43,705,101 (GRCm39) missense probably damaging 1.00
R7679:Mcur1 UTSW 13 43,697,959 (GRCm39) nonsense probably null
R8686:Mcur1 UTSW 13 43,695,193 (GRCm39) missense probably damaging 1.00
R9572:Mcur1 UTSW 13 43,713,433 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- AGTACGCGTGTCATCCGGAG -3'
(R):5'- ACCCTAGTTCCTGTCTGGGAG -3'

Sequencing Primer
(F):5'- TCATCCGGAGCCAGGACAC -3'
(R):5'- TGTAAAGGCGGACCCGG -3'
Posted On 2019-12-20