Incidental Mutation 'R5431:Micu1'
ID 428058
Institutional Source Beutler Lab
Gene Symbol Micu1
Ensembl Gene ENSMUSG00000020111
Gene Name mitochondrial calcium uptake 1
Synonyms C730016L05Rik, Cbara1
MMRRC Submission 042847-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.702) question?
Stock # R5431 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 59538385-59699956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59586343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 140 (Y140H)
Ref Sequence ENSEMBL: ENSMUSP00000131000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020311] [ENSMUST00000092508] [ENSMUST00000165563] [ENSMUST00000167612] [ENSMUST00000171409] [ENSMUST00000179709]
AlphaFold Q8VCX5
Predicted Effect possibly damaging
Transcript: ENSMUST00000020311
AA Change: Y173H

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020311
Gene: ENSMUSG00000020111
AA Change: Y173H

DomainStartEndE-ValueType
low complexity region 89 94 N/A INTRINSIC
EFh 230 258 8.16e-1 SMART
EFh 420 448 4.12e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000092508
AA Change: Y173H

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090166
Gene: ENSMUSG00000020111
AA Change: Y173H

DomainStartEndE-ValueType
low complexity region 89 94 N/A INTRINSIC
EFh 228 256 8.16e-1 SMART
EFh 418 446 4.12e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165405
Predicted Effect possibly damaging
Transcript: ENSMUST00000165563
AA Change: Y173H

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126597
Gene: ENSMUSG00000020111
AA Change: Y173H

DomainStartEndE-ValueType
low complexity region 89 94 N/A INTRINSIC
EFh 224 252 8.16e-1 SMART
EFh 414 442 4.12e-3 SMART
Predicted Effect unknown
Transcript: ENSMUST00000167612
AA Change: Y23H
SMART Domains Protein: ENSMUSP00000126822
Gene: ENSMUSG00000020111
AA Change: Y23H

DomainStartEndE-ValueType
PDB:4NSD|B 1 35 2e-16 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000171409
AA Change: Y140H

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131000
Gene: ENSMUSG00000020111
AA Change: Y140H

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 56 61 N/A INTRINSIC
Pfam:EF-hand_6 191 221 1.8e-6 PFAM
Pfam:EF-hand_5 192 216 5.9e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179709
AA Change: Y173H

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136567
Gene: ENSMUSG00000020111
AA Change: Y173H

DomainStartEndE-ValueType
low complexity region 89 94 N/A INTRINSIC
EFh 224 252 8.16e-1 SMART
EFh 414 442 4.12e-3 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,426 (GRCm39) S124G possibly damaging Het
4921539E11Rik T C 4: 103,128,045 (GRCm39) T27A probably benign Het
Aspg T A 12: 112,089,846 (GRCm39) N461K probably benign Het
B4galnt3 T A 6: 120,195,928 (GRCm39) T300S probably damaging Het
BC035044 A G 6: 128,861,970 (GRCm39) probably benign Het
Bmp5 C T 9: 75,800,991 (GRCm39) P374S probably damaging Het
C330018D20Rik A T 18: 57,090,928 (GRCm39) F78L probably benign Het
Cds2 T A 2: 132,144,090 (GRCm39) S289T probably benign Het
Cerkl C T 2: 79,171,679 (GRCm39) C393Y probably damaging Het
Cibar2 C A 8: 120,894,042 (GRCm39) probably null Het
Ciita C T 16: 10,341,656 (GRCm39) R1020C probably damaging Het
Dcaf13 C A 15: 38,986,619 (GRCm39) D130E probably benign Het
Dnal4 C T 15: 79,646,648 (GRCm39) G50R probably damaging Het
Elfn1 A G 5: 139,957,323 (GRCm39) N109S probably damaging Het
Ep400 A G 5: 110,824,420 (GRCm39) V2435A unknown Het
Fam178b T C 1: 36,671,566 (GRCm39) E185G probably damaging Het
Fam227b C A 2: 125,968,851 (GRCm39) L74F probably benign Het
Fgfr4 G A 13: 55,304,464 (GRCm39) V138I probably benign Het
Flnc A G 6: 29,456,383 (GRCm39) I2161V possibly damaging Het
Frmd5 T C 2: 121,393,390 (GRCm39) N235S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ggt6 A G 11: 72,328,564 (GRCm39) T355A possibly damaging Het
Gm14393 G A 2: 174,905,669 (GRCm39) T41I probably damaging Het
Gpr151 A C 18: 42,711,932 (GRCm39) S249A probably damaging Het
Gpr152 T A 19: 4,193,746 (GRCm39) V429D probably benign Het
Grm7 G A 6: 111,335,387 (GRCm39) M599I probably benign Het
Hdac4 T A 1: 91,900,512 (GRCm39) R54* probably null Het
Ice1 A G 13: 70,740,769 (GRCm39) L2146S probably damaging Het
Igfbpl1 C T 4: 45,815,588 (GRCm39) V183I probably benign Het
Kel G A 6: 41,675,354 (GRCm39) S299F probably benign Het
Kif14 T C 1: 136,424,433 (GRCm39) I1016T possibly damaging Het
Lhx3 T C 2: 26,091,130 (GRCm39) D395G probably damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nbn C T 4: 15,986,593 (GRCm39) H665Y probably benign Het
Pkhd1 G T 1: 20,188,060 (GRCm39) T3416K probably benign Het
Plxnb1 T C 9: 108,929,840 (GRCm39) F232S probably damaging Het
Pus7l T C 15: 94,427,367 (GRCm39) N472D probably damaging Het
Rfx1 C T 8: 84,809,349 (GRCm39) Q225* probably null Het
Rnase2a T C 14: 51,493,020 (GRCm39) Y115C possibly damaging Het
Ryr1 T A 7: 28,809,237 (GRCm39) D386V probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sgcz T A 8: 38,107,138 (GRCm39) T125S probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Syt2 A G 1: 134,668,695 (GRCm39) S36G probably benign Het
Tcaf3 A G 6: 42,574,119 (GRCm39) L31P probably damaging Het
Tenm3 C A 8: 48,820,412 (GRCm39) E142* probably null Het
Tgfbr2 G T 9: 115,960,669 (GRCm39) S94R probably damaging Het
Tut4 T A 4: 108,348,609 (GRCm39) I297N probably damaging Het
Vmn2r12 A G 5: 109,239,684 (GRCm39) I293T probably damaging Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zc3h14 A G 12: 98,746,324 (GRCm39) D511G possibly damaging Het
Other mutations in Micu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01982:Micu1 APN 10 59,699,100 (GRCm39) missense possibly damaging 0.55
IGL02643:Micu1 APN 10 59,675,558 (GRCm39) missense probably damaging 1.00
IGL03183:Micu1 APN 10 59,563,870 (GRCm39) nonsense probably null
R0025:Micu1 UTSW 10 59,624,699 (GRCm39) critical splice acceptor site probably null
R0645:Micu1 UTSW 10 59,675,503 (GRCm39) missense possibly damaging 0.95
R0988:Micu1 UTSW 10 59,592,549 (GRCm39) intron probably benign
R1121:Micu1 UTSW 10 59,624,804 (GRCm39) missense possibly damaging 0.50
R1334:Micu1 UTSW 10 59,624,798 (GRCm39) missense probably damaging 1.00
R1762:Micu1 UTSW 10 59,699,082 (GRCm39) missense possibly damaging 0.70
R1925:Micu1 UTSW 10 59,568,983 (GRCm39) splice site probably benign
R1976:Micu1 UTSW 10 59,604,035 (GRCm39) missense probably damaging 1.00
R2082:Micu1 UTSW 10 59,699,129 (GRCm39) missense probably benign 0.00
R2152:Micu1 UTSW 10 59,699,110 (GRCm39) missense probably benign 0.01
R2395:Micu1 UTSW 10 59,699,024 (GRCm39) nonsense probably null
R3619:Micu1 UTSW 10 59,604,080 (GRCm39) splice site probably null
R3953:Micu1 UTSW 10 59,586,326 (GRCm39) missense probably benign 0.01
R4809:Micu1 UTSW 10 59,576,644 (GRCm39) missense probably benign
R4948:Micu1 UTSW 10 59,699,076 (GRCm39) missense possibly damaging 0.56
R5103:Micu1 UTSW 10 59,624,806 (GRCm39) missense possibly damaging 0.79
R5137:Micu1 UTSW 10 59,663,054 (GRCm39) missense probably benign 0.20
R5805:Micu1 UTSW 10 59,663,128 (GRCm39) missense possibly damaging 0.46
R6910:Micu1 UTSW 10 59,576,489 (GRCm39) missense probably damaging 1.00
R7030:Micu1 UTSW 10 59,624,843 (GRCm39) missense possibly damaging 0.92
R7845:Micu1 UTSW 10 59,675,607 (GRCm39) critical splice donor site probably null
R9124:Micu1 UTSW 10 59,586,335 (GRCm39) missense probably damaging 1.00
R9255:Micu1 UTSW 10 59,604,051 (GRCm39) missense probably damaging 1.00
R9736:Micu1 UTSW 10 59,699,123 (GRCm39) nonsense probably null
Z1177:Micu1 UTSW 10 59,563,863 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTCTGTCTGCCAGCATTTG -3'
(R):5'- AACCCTGGCTTGATTTCCTG -3'

Sequencing Primer
(F):5'- GCCAGCATTTGTACTTTAAGTCTG -3'
(R):5'- CCTGGCTTGATTTCCTGTGCAG -3'
Posted On 2016-09-01