Incidental Mutation 'R6793:Micu3'
ID 532699
Institutional Source Beutler Lab
Gene Symbol Micu3
Ensembl Gene ENSMUSG00000039478
Gene Name mitochondrial calcium uptake family, member 3
Synonyms Efha2, 2900075B16Rik
MMRRC Submission 044906-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6793 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 40760499-40839349 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40833736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 457 (V457I)
Ref Sequence ENSEMBL: ENSMUSP00000070241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068999]
AlphaFold Q9CTY5
Predicted Effect probably damaging
Transcript: ENSMUST00000068999
AA Change: V457I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070241
Gene: ENSMUSG00000039478
AA Change: V457I

DomainStartEndE-ValueType
low complexity region 50 65 N/A INTRINSIC
low complexity region 69 80 N/A INTRINSIC
EFh 229 257 3.93e0 SMART
Blast:EFh 332 360 1e-5 BLAST
EFh 467 495 5.36e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000136835
AA Change: V195I
SMART Domains Protein: ENSMUSP00000118883
Gene: ENSMUSG00000039478
AA Change: V195I

DomainStartEndE-ValueType
EFh 5 33 6.6e-2 SMART
Blast:EFh 71 99 9e-6 BLAST
EFh 206 234 5.36e-2 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,058,052 (GRCm39) N19K possibly damaging Het
A2ml1 G A 6: 128,523,292 (GRCm39) Q1215* probably null Het
Abraxas2 T C 7: 132,476,563 (GRCm39) I98T probably damaging Het
Ankrd17 G A 5: 90,413,371 (GRCm39) T1181I probably damaging Het
Bsn T A 9: 107,991,814 (GRCm39) K1313* probably null Het
Chst4 A T 8: 110,756,699 (GRCm39) V388D probably damaging Het
Ckap5 T G 2: 91,399,054 (GRCm39) W613G probably damaging Het
Clock GACTCACT GACT 5: 76,384,967 (GRCm39) probably null Het
Enpp1 T C 10: 24,531,723 (GRCm39) D520G probably damaging Het
Epha3 T C 16: 63,593,818 (GRCm39) N90S probably benign Het
Esp36 A T 17: 38,728,005 (GRCm39) M92K unknown Het
Fam135a A G 1: 24,107,006 (GRCm39) V44A possibly damaging Het
Fndc8 T C 11: 82,788,412 (GRCm39) S81P probably damaging Het
Fsip2 T G 2: 82,819,838 (GRCm39) N5190K probably benign Het
Gabrr1 T G 4: 33,162,712 (GRCm39) V426G possibly damaging Het
Igkv6-15 T A 6: 70,383,976 (GRCm39) M1L probably benign Het
Lrrc36 A G 8: 106,185,065 (GRCm39) E614G probably damaging Het
Man1a2 A T 3: 100,539,913 (GRCm39) I176K possibly damaging Het
Mapk4 T A 18: 74,063,539 (GRCm39) N561I probably damaging Het
Med15 A T 16: 17,470,567 (GRCm39) probably benign Het
Mfsd2a A G 4: 122,844,498 (GRCm39) V258A probably benign Het
Mov10l1 T A 15: 88,880,387 (GRCm39) V291E possibly damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Ncbp1 T C 4: 46,157,827 (GRCm39) I355T probably damaging Het
Or51s1 A G 7: 102,558,935 (GRCm39) V37A probably benign Het
Or52ad1 T C 7: 102,995,473 (GRCm39) T221A probably benign Het
Otub2 A G 12: 103,355,278 (GRCm39) probably benign Het
Pcdh15 T C 10: 74,466,971 (GRCm39) S1666P probably damaging Het
Pcdha12 T A 18: 37,155,234 (GRCm39) V651E probably damaging Het
Pomt1 T C 2: 32,132,961 (GRCm39) F186L probably damaging Het
Prl3d3 G A 13: 27,345,044 (GRCm39) A140T probably benign Het
Ptprn G A 1: 75,234,786 (GRCm39) T267I probably benign Het
Qrfprl C T 6: 65,358,405 (GRCm39) A43V probably benign Het
Rhbdd2 T A 5: 135,665,008 (GRCm39) I113N probably damaging Het
Saraf T A 8: 34,635,767 (GRCm39) probably null Het
Slc41a2 T C 10: 83,137,022 (GRCm39) probably null Het
Slc47a1 A G 11: 61,250,229 (GRCm39) V352A probably benign Het
Tmem237 T C 1: 59,153,375 (GRCm39) T49A probably benign Het
Tmem273 A C 14: 32,528,778 (GRCm39) I48L probably benign Het
Tmprss11e C T 5: 86,863,414 (GRCm39) C217Y probably damaging Het
Ubfd1 T C 7: 121,667,103 (GRCm39) V140A probably benign Het
Utrn A G 10: 12,516,669 (GRCm39) probably null Het
Utrn T A 10: 12,574,844 (GRCm39) I1028F possibly damaging Het
Virma C T 4: 11,539,968 (GRCm39) T1479M probably damaging Het
Vwa7 G T 17: 35,243,867 (GRCm39) R767L probably benign Het
Wdfy3 A T 5: 102,065,297 (GRCm39) Y1290* probably null Het
Zfp970 G A 2: 177,167,338 (GRCm39) C304Y probably damaging Het
Other mutations in Micu3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02970:Micu3 APN 8 40,835,171 (GRCm39) missense possibly damaging 0.90
R0491:Micu3 UTSW 8 40,819,294 (GRCm39) splice site probably benign
R1518:Micu3 UTSW 8 40,788,893 (GRCm39) missense possibly damaging 0.94
R2089:Micu3 UTSW 8 40,761,413 (GRCm39) missense probably benign 0.01
R3115:Micu3 UTSW 8 40,835,208 (GRCm39) missense probably benign 0.21
R3893:Micu3 UTSW 8 40,819,265 (GRCm39) missense probably damaging 1.00
R4026:Micu3 UTSW 8 40,812,496 (GRCm39) intron probably benign
R4094:Micu3 UTSW 8 40,788,929 (GRCm39) missense probably null 1.00
R4595:Micu3 UTSW 8 40,812,438 (GRCm39) intron probably benign
R4678:Micu3 UTSW 8 40,833,718 (GRCm39) missense probably damaging 1.00
R5501:Micu3 UTSW 8 40,807,341 (GRCm39) splice site probably null
R6327:Micu3 UTSW 8 40,819,238 (GRCm39) missense probably benign 0.13
R7292:Micu3 UTSW 8 40,835,166 (GRCm39) missense probably benign 0.09
R7350:Micu3 UTSW 8 40,801,999 (GRCm39) missense probably benign 0.09
R7427:Micu3 UTSW 8 40,831,955 (GRCm39) missense possibly damaging 0.86
R7453:Micu3 UTSW 8 40,788,939 (GRCm39) missense probably benign
R7635:Micu3 UTSW 8 40,819,275 (GRCm39) missense possibly damaging 0.76
R8428:Micu3 UTSW 8 40,761,205 (GRCm39) missense probably benign
R9468:Micu3 UTSW 8 40,807,422 (GRCm39) nonsense probably null
R9561:Micu3 UTSW 8 40,835,156 (GRCm39) nonsense probably null
R9665:Micu3 UTSW 8 40,828,666 (GRCm39) missense probably benign 0.13
R9752:Micu3 UTSW 8 40,833,751 (GRCm39) missense possibly damaging 0.90
X0003:Micu3 UTSW 8 40,819,263 (GRCm39) missense probably benign 0.00
Z1177:Micu3 UTSW 8 40,761,265 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAACCCCGTAACTACAGTGTCG -3'
(R):5'- TGAAAGCAGATTAAGGGCTCTAC -3'

Sequencing Primer
(F):5'- GTCGTCTTTTTCCCTGAATGAAAG -3'
(R):5'- CACACAAACTTTTTCTGAACTCAG -3'
Posted On 2018-08-29