Incidental Mutation 'IGL02970:Micu3'
ID 365781
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Micu3
Ensembl Gene ENSMUSG00000039478
Gene Name mitochondrial calcium uptake family, member 3
Synonyms Efha2, 2900075B16Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02970
Quality Score
Status
Chromosome 8
Chromosomal Location 40760499-40839349 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40835171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 509 (Y509H)
Ref Sequence ENSEMBL: ENSMUSP00000070241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068999]
AlphaFold Q9CTY5
Predicted Effect possibly damaging
Transcript: ENSMUST00000068999
AA Change: Y509H

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070241
Gene: ENSMUSG00000039478
AA Change: Y509H

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: Y247H
SMART Domains Protein: ENSMUSP00000118883
Gene: ENSMUSG00000039478
AA Change: Y247H

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik C T 1: 53,226,748 (GRCm39) G5S probably damaging Het
A2ml1 A T 6: 128,546,942 (GRCm39) F396I probably damaging Het
BC051019 T A 7: 109,315,262 (GRCm39) N331I probably benign Het
Crocc G A 4: 140,757,557 (GRCm39) S912L possibly damaging Het
Dcaf4 A G 12: 83,575,989 (GRCm39) D46G probably damaging Het
Dido1 C T 2: 180,331,208 (GRCm39) R80Q probably damaging Het
Dnase2b A G 3: 146,288,261 (GRCm39) V278A probably damaging Het
Drosha C T 15: 12,914,042 (GRCm39) L1106F probably damaging Het
Dsc3 C A 18: 20,101,317 (GRCm39) W692L probably damaging Het
F2 T A 2: 91,455,896 (GRCm39) Y579F possibly damaging Het
Fam43a C T 16: 30,419,922 (GRCm39) R169C probably damaging Het
Gm9772 A G 17: 22,225,540 (GRCm39) F120S probably damaging Het
Gsdma3 T C 11: 98,523,819 (GRCm39) S251P probably benign Het
Hycc2 T C 1: 58,578,776 (GRCm39) E258G probably damaging Het
Itgam G A 7: 127,685,215 (GRCm39) E443K probably benign Het
Kif18a T C 2: 109,118,233 (GRCm39) V16A probably damaging Het
Lrrn3 T G 12: 41,502,359 (GRCm39) S653R probably benign Het
Map1b A T 13: 99,567,242 (GRCm39) Y1826* probably null Het
Mbnl1 T C 3: 60,520,844 (GRCm39) F139S probably damaging Het
Ncmap T C 4: 135,104,329 (GRCm39) T17A probably damaging Het
Oas1h T A 5: 120,999,698 (GRCm39) M61K possibly damaging Het
Otog T A 7: 45,945,291 (GRCm39) W2183R probably benign Het
Pcdh15 T C 10: 74,126,794 (GRCm39) probably benign Het
Plekho1 C T 3: 95,898,214 (GRCm39) V150I probably damaging Het
Ppargc1b A G 18: 61,431,837 (GRCm39) S1004P probably damaging Het
Prf1 T C 10: 61,135,957 (GRCm39) S78P probably benign Het
Prss12 A G 3: 123,276,411 (GRCm39) S347G probably benign Het
Rai1 T C 11: 60,076,559 (GRCm39) S208P probably damaging Het
Sgms1 A G 19: 32,137,165 (GRCm39) Y134H probably damaging Het
Sult2a4 A G 7: 13,643,831 (GRCm39) probably benign Het
T C T 17: 8,654,217 (GRCm39) A134V probably damaging Het
Thoc5 A G 11: 4,854,201 (GRCm39) T187A probably damaging Het
Ticrr A G 7: 79,344,919 (GRCm39) S1595G probably benign Het
Tiprl A G 1: 165,064,315 (GRCm39) S30P probably damaging Het
Ttl T C 2: 128,917,990 (GRCm39) S151P probably damaging Het
Ttn T A 2: 76,583,334 (GRCm39) T22520S probably damaging Het
Usp54 G A 14: 20,627,540 (GRCm39) S420L probably damaging Het
Vmn1r62 T A 7: 5,678,567 (GRCm39) Y83N possibly damaging Het
Other mutations in Micu3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6793:Micu3 UTSW 8 40,833,736 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-12-18