Incidental Mutation 'R2395:Micu1'
ID 248496
Institutional Source Beutler Lab
Gene Symbol Micu1
Ensembl Gene ENSMUSG00000020111
Gene Name mitochondrial calcium uptake 1
Synonyms C730016L05Rik, Cbara1
MMRRC Submission 040363-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.702) question?
Stock # R2395 (G1)
Quality Score 164
Status Validated
Chromosome 10
Chromosomal Location 59538385-59699956 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 59699024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 434 (E434*)
Ref Sequence ENSEMBL: ENSMUSP00000136567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020311] [ENSMUST00000092508] [ENSMUST00000165563] [ENSMUST00000179709]
AlphaFold Q8VCX5
Predicted Effect probably null
Transcript: ENSMUST00000020311
AA Change: E440*
SMART Domains Protein: ENSMUSP00000020311
Gene: ENSMUSG00000020111
AA Change: E440*

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 probably null
Transcript: ENSMUST00000092508
AA Change: E438*
SMART Domains Protein: ENSMUSP00000090166
Gene: ENSMUSG00000020111
AA Change: E438*

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 probably null
Transcript: ENSMUST00000165563
AA Change: E434*
SMART Domains Protein: ENSMUSP00000126597
Gene: ENSMUSG00000020111
AA Change: E434*

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 noncoding transcript
Transcript: ENSMUST00000166565
Predicted Effect probably null
Transcript: ENSMUST00000179709
AA Change: E434*
SMART Domains Protein: ENSMUSP00000136567
Gene: ENSMUSG00000020111
AA Change: E434*

DomainStartEndE-ValueType
low complexity region 89 94 N/A INTRINSIC
EFh 224 252 8.16e-1 SMART
EFh 414 442 4.12e-3 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (30/30)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,959,614 (GRCm39) Y707H probably damaging Het
Abcc3 A G 11: 94,248,132 (GRCm39) V1156A possibly damaging Het
Acsl3 T C 1: 78,683,085 (GRCm39) V661A probably benign Het
Atosb C A 4: 43,035,964 (GRCm39) E256* probably null Het
B3glct A G 5: 149,677,651 (GRCm39) T427A probably damaging Het
Cblc C A 7: 19,519,305 (GRCm39) C341F probably damaging Het
Cntn2 T C 1: 132,454,110 (GRCm39) S299G probably benign Het
Dcp1b T C 6: 119,192,025 (GRCm39) S314P probably benign Het
Dnah6 T C 6: 73,068,950 (GRCm39) probably null Het
Fmn1 A G 2: 113,195,526 (GRCm39) T409A unknown Het
Hltf C T 3: 20,146,906 (GRCm39) A555V probably benign Het
Kmt2c T C 5: 25,520,150 (GRCm39) I1987V probably benign Het
Map3k10 T C 7: 27,373,418 (GRCm39) E11G unknown Het
Mlph A G 1: 90,861,228 (GRCm39) T288A probably benign Het
Myh13 A G 11: 67,255,748 (GRCm39) E1679G probably benign Het
Myh15 A G 16: 48,889,877 (GRCm39) N156S probably benign Het
Nab1 A G 1: 52,529,741 (GRCm39) I52T probably damaging Het
Naip1 T C 13: 100,559,614 (GRCm39) H1130R possibly damaging Het
Or10al2 T G 17: 37,983,587 (GRCm39) Y224* probably null Het
Or8k23 A G 2: 86,186,609 (GRCm39) V39A probably benign Het
P2rx2 A G 5: 110,489,527 (GRCm39) Y136H probably damaging Het
Phf8-ps T C 17: 33,284,936 (GRCm39) E622G probably benign Het
Prss40 A G 1: 34,598,986 (GRCm39) V59A possibly damaging Het
Riox1 A T 12: 83,997,418 (GRCm39) probably null Het
Rxrb T G 17: 34,256,412 (GRCm39) C384W probably damaging Het
Srebf2 C T 15: 82,076,456 (GRCm39) T702I probably benign Het
Tmprss5 T A 9: 49,026,435 (GRCm39) L373* probably null Het
Trpm2 A C 10: 77,783,714 (GRCm39) I253S possibly damaging Het
Ush2a C T 1: 188,679,237 (GRCm39) T4815I probably damaging Het
Vmn2r73 A T 7: 85,506,975 (GRCm39) M779K probably 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
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
R5431:Micu1 UTSW 10 59,586,343 (GRCm39) missense possibly damaging 0.92
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'- CTGGGTGATTCATCCTGAGC -3'
(R):5'- CCAGAGGTTACTCCCAGAAAGATG -3'

Sequencing Primer
(F):5'- ATTCATCCTGAGCTAAGGTTGAGAG -3'
(R):5'- CATCAGCAGCATGAAGGGCC -3'
Posted On 2014-11-11