Incidental Mutation 'R2082:Micu1'
ID 230088
Institutional Source Beutler Lab
Gene Symbol Micu1
Ensembl Gene ENSMUSG00000020111
Gene Name mitochondrial calcium uptake 1
Synonyms C730016L05Rik, Cbara1
MMRRC Submission 040087-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.702) question?
Stock # R2082 (G1)
Quality Score 163
Status Not validated
Chromosome 10
Chromosomal Location 59538385-59699956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59699129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 469 (T469A)
Ref Sequence ENSEMBL: ENSMUSP00000136567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020311] [ENSMUST00000092508] [ENSMUST00000165563] [ENSMUST00000179709]
AlphaFold Q8VCX5
Predicted Effect probably benign
Transcript: ENSMUST00000020311
AA Change: T475A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000020311
Gene: ENSMUSG00000020111
AA Change: T475A

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 benign
Transcript: ENSMUST00000092508
AA Change: T473A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000090166
Gene: ENSMUSG00000020111
AA Change: T473A

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 benign
Transcript: ENSMUST00000165563
AA Change: T469A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000126597
Gene: ENSMUSG00000020111
AA Change: T469A

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 benign
Transcript: ENSMUST00000179709
AA Change: T469A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000136567
Gene: ENSMUSG00000020111
AA Change: T469A

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: 97.3%
  • 20x: 95.3%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T A 2: 30,686,391 (GRCm39) probably null Het
4933427I04Rik A G 4: 123,754,769 (GRCm39) I228V probably benign Het
Aco2 T C 15: 81,797,896 (GRCm39) W657R possibly damaging Het
Acsm2 T A 7: 119,179,857 (GRCm39) H333Q probably benign Het
Adamts18 C T 8: 114,501,965 (GRCm39) V299I probably damaging Het
Adat2 G A 10: 13,435,907 (GRCm39) C84Y probably damaging Het
Arhgef11 C T 3: 87,633,303 (GRCm39) T690I possibly damaging Het
Cachd1 A G 4: 100,860,155 (GRCm39) D1242G probably damaging Het
Casp14 A G 10: 78,550,867 (GRCm39) M106T probably benign Het
Ccdc69 T A 11: 54,943,215 (GRCm39) I130F probably damaging Het
Cdk9 A G 2: 32,599,513 (GRCm39) L189P probably damaging Het
Cfhr1 C T 1: 139,478,624 (GRCm39) V249I possibly damaging Het
Chst1 T C 2: 92,444,335 (GRCm39) V269A possibly damaging Het
Col18a1 G T 10: 76,895,127 (GRCm39) P1178Q probably damaging Het
Col6a1 A G 10: 76,545,430 (GRCm39) L1014P probably damaging Het
Crisp3 T C 17: 40,536,751 (GRCm39) Y188C probably damaging Het
Dse G A 10: 34,031,936 (GRCm39) R363C probably damaging Het
Exoc5 T C 14: 49,253,044 (GRCm39) I525V probably benign Het
Fech A T 18: 64,591,260 (GRCm39) I388N probably damaging Het
Fmnl1 T C 11: 103,082,851 (GRCm39) L363P probably damaging Het
Gm10842 T A 11: 105,037,909 (GRCm39) L64Q unknown Het
Gm8225 C A 17: 26,762,670 (GRCm39) P287Q possibly damaging Het
Hsp90aa1 A T 12: 110,659,261 (GRCm39) L512H probably damaging Het
Ifi30 T C 8: 71,216,373 (GRCm39) probably benign Het
Iqsec1 A T 6: 90,671,556 (GRCm39) D115E probably damaging Het
Kcnu1 T A 8: 26,411,577 (GRCm39) L174H probably damaging Het
Krt10 A G 11: 99,279,701 (GRCm39) V153A probably damaging Het
Krt18 G A 15: 101,939,455 (GRCm39) probably null Het
Mtss2 T C 8: 111,452,889 (GRCm39) probably null Het
Myo10 T A 15: 25,786,079 (GRCm39) F1253L probably damaging Het
N4bp2 A T 5: 65,964,908 (GRCm39) T986S probably damaging Het
Naip6 C A 13: 100,440,852 (GRCm39) probably null Het
Nphp4 G A 4: 152,643,821 (GRCm39) V1117M probably benign Het
Oca2 C A 7: 55,946,885 (GRCm39) Q305K probably benign Het
Or56b34 C T 7: 104,937,710 (GRCm39) Q137* probably null Het
Or5k3 T A 16: 58,969,248 (GRCm39) F12I probably damaging Het
Or7g27 G A 9: 19,250,574 (GRCm39) V273I probably benign Het
P2rx7 A T 5: 122,782,158 (GRCm39) N8Y possibly damaging Het
Pag1 A T 3: 9,764,545 (GRCm39) S203T probably damaging Het
Pfn4 T A 12: 4,825,439 (GRCm39) probably null Het
Pip4k2c T C 10: 127,034,958 (GRCm39) D414G probably damaging Het
Pkp1 T G 1: 135,812,714 (GRCm39) Q329P possibly damaging Het
Polrmt A T 10: 79,579,346 (GRCm39) I135N probably benign Het
Ppa2 G A 3: 133,076,178 (GRCm39) R269H probably benign Het
Ppp3cb T C 14: 20,558,746 (GRCm39) T439A possibly damaging Het
Prkdc A G 16: 15,533,827 (GRCm39) Y1555C probably damaging Het
Ptprh T C 7: 4,553,774 (GRCm39) D859G probably damaging Het
Sema5a T A 15: 32,619,002 (GRCm39) M510K probably benign Het
Slc22a16 A G 10: 40,461,335 (GRCm39) E379G probably benign Het
Slc30a5 C A 13: 100,943,041 (GRCm39) probably null Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tbc1d9 A T 8: 83,997,616 (GRCm39) S1058C probably damaging Het
Tet2 A G 3: 133,191,488 (GRCm39) L982P possibly damaging Het
Tmem101 G T 11: 102,044,203 (GRCm39) T228K probably benign Het
Tshz2 G T 2: 169,728,135 (GRCm39) K441N probably damaging Het
Upf1 A T 8: 70,794,222 (GRCm39) I228N probably damaging Het
Usp32 A T 11: 84,921,338 (GRCm39) I692N probably damaging Het
Vmn2r117 A G 17: 23,679,230 (GRCm39) S665P possibly damaging Het
Vps13b T C 15: 35,910,892 (GRCm39) V3552A possibly damaging Het
Vps35 A T 8: 85,990,094 (GRCm39) M638K possibly damaging Het
Vps41 T G 13: 19,036,521 (GRCm39) I645S probably benign Het
Zfp703 T C 8: 27,469,016 (GRCm39) S227P probably benign 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
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
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'- GTGGCTTTTATCCCAGAGTCCC -3'
(R):5'- TTCCATCCGACTGCAGACTC -3'

Sequencing Primer
(F):5'- AGAGTCCCCACTTACACCTTTGTG -3'
(R):5'- CCTAGCAGAACACTGATGGGGTC -3'
Posted On 2014-09-18