Incidental Mutation 'R7859:Mcur1'
ID607379
Institutional Source Beutler Lab
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 #R7859 (G1)
Quality Score124.008
Status Not validated
Chromosome13
Chromosomal Location43538393-43560191 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 43560009 bp
ZygosityHeterozygous
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]
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: 24,384,526 L564P probably damaging Het
Arsb T A 13: 93,862,107 S308T probably benign Het
Atxn10 A G 15: 85,462,325 D428G probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,042,160 probably benign Het
Cd300a T C 11: 114,893,339 Y58H probably benign Het
Crkl T A 16: 17,469,096 M172K probably damaging Het
Cyfip1 T C 7: 55,900,026 I647T probably damaging Het
Dlgap1 A G 17: 70,516,688 T223A probably benign Het
Dmtf1 T C 5: 9,128,044 S372G probably damaging Het
Dock8 G A 19: 25,183,570 V1814M probably damaging Het
Dusp22 A C 13: 30,708,754 K171N probably benign Het
Evi2a T C 11: 79,527,626 S53G probably benign Het
Ipcef1 T A 10: 6,890,569 D376V probably damaging Het
Kndc1 A T 7: 139,920,964 D723V possibly damaging Het
Kti12 A C 4: 108,848,246 E119A probably benign Het
Kti12 G T 4: 108,848,247 E119D probably benign Het
Mgam T A 6: 40,740,179 N265K possibly damaging Het
Muc6 G A 7: 141,645,420 T1069I probably damaging Het
Myh2 T C 11: 67,186,700 L887P probably damaging Het
Myo1d T G 11: 80,684,377 D171A probably damaging Het
Nat2 T A 8: 67,501,350 F37L probably damaging Het
Nkx2-2 A G 2: 147,177,810 C236R unknown Het
Nrl G A 14: 55,522,125 S115L probably benign Het
Nrsn1 A C 13: 25,262,271 S41A probably damaging Het
Olfr1448 T A 19: 12,919,982 E109V probably damaging Het
Pax8 T A 2: 24,421,555 H456L possibly damaging Het
Pkd1 T A 17: 24,571,280 I979K probably damaging Het
Prex2 A G 1: 11,080,050 N149D probably damaging Het
Psg28 A T 7: 18,426,224 V349D probably damaging Het
Ptpro G A 6: 137,392,807 probably null Het
Sema4d T A 13: 51,722,351 K94N probably benign Het
Slc22a22 A T 15: 57,250,952 D326E probably benign Het
Slc25a29 G A 12: 108,826,830 T274I probably benign Het
Slc43a1 T C 2: 84,856,876 F374L possibly damaging Het
Syne1 G T 10: 5,157,683 Q520K possibly damaging Het
Taar4 T C 10: 23,961,134 V214A probably benign Het
Tex22 T A 12: 113,088,483 C54S possibly damaging Het
Tmem2 T A 19: 21,832,175 I973N possibly damaging Het
Tpo T A 12: 30,100,574 I436F probably damaging Het
Usp53 T C 3: 122,949,766 H507R possibly damaging Het
Usp54 T C 14: 20,588,136 E255G probably benign Het
Vmn2r109 G T 17: 20,541,174 F640L probably damaging Het
Vmn2r124 A G 17: 18,061,950 Y80C probably damaging Het
Vmn2r27 A T 6: 124,224,242 I252K probably benign Het
Zfp457 A G 13: 67,306,381 probably benign Het
Other mutations in Mcur1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02428:Mcur1 APN 13 43541727 missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AGTACGCGTGTCATCCGGAG -3'
(R):5'- ACCCTAGTTCCTGTCTGGGAG -3'

Sequencing Primer
(F):5'- TCATCCGGAGCCAGGACAC -3'
(R):5'- TGTAAAGGCGGACCCGG -3'
Posted On2019-12-20