Incidental Mutation 'R9255:Micu1'
ID 701821
Institutional Source Beutler Lab
Gene Symbol Micu1
Ensembl Gene ENSMUSG00000020111
Gene Name mitochondrial calcium uptake 1
Synonyms C730016L05Rik, Cbara1
MMRRC Submission 068961-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.702) question?
Stock # R9255 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 59538385-59699956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59604051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 212 (I212N)
Ref Sequence ENSEMBL: ENSMUSP00000126597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020311] [ENSMUST00000092508] [ENSMUST00000165563] [ENSMUST00000171409] [ENSMUST00000179709]
AlphaFold Q8VCX5
Predicted Effect probably damaging
Transcript: ENSMUST00000020311
AA Change: I218N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020311
Gene: ENSMUSG00000020111
AA Change: I218N

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 damaging
Transcript: ENSMUST00000092508
AA Change: I216N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090166
Gene: ENSMUSG00000020111
AA Change: I216N

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 damaging
Transcript: ENSMUST00000165563
AA Change: I212N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126597
Gene: ENSMUSG00000020111
AA Change: I212N

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 probably damaging
Transcript: ENSMUST00000171409
AA Change: I179N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131000
Gene: ENSMUSG00000020111
AA Change: I179N

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 probably damaging
Transcript: ENSMUST00000179709
AA Change: I212N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136567
Gene: ENSMUSG00000020111
AA Change: I212N

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,626,795 (GRCm39) Y549C probably damaging Het
Abca13 A C 11: 9,278,213 (GRCm39) N3131T probably damaging Het
Acap3 T C 4: 155,990,145 (GRCm39) V775A probably benign Het
Actn3 T A 19: 4,921,820 (GRCm39) I149F probably damaging Het
Adcy2 A T 13: 69,036,199 (GRCm39) M154K possibly damaging Het
Agbl1 A T 7: 76,416,150 (GRCm39) M976L unknown Het
Agbl3 T A 6: 34,789,840 (GRCm39) M531K probably damaging Het
Armc8 A C 9: 99,379,441 (GRCm39) M495R possibly damaging Het
Astn2 T A 4: 65,563,085 (GRCm39) K899* probably null Het
Atp10b T A 11: 43,107,148 (GRCm39) H727Q probably damaging Het
Bach1 A G 16: 87,519,401 (GRCm39) I564V possibly damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Ccdc136 T A 6: 29,409,237 (GRCm39) H183Q probably benign Het
Celf3 T C 3: 94,392,594 (GRCm39) F98L probably benign Het
Chrd G A 16: 20,558,801 (GRCm39) C845Y probably damaging Het
Clec1a T G 6: 129,409,208 (GRCm39) K139N probably benign Het
Cntln T G 4: 85,019,103 (GRCm39) N130K possibly damaging Het
Cog1 A T 11: 113,547,019 (GRCm39) T538S probably benign Het
Cog8 A G 8: 107,779,383 (GRCm39) I298T probably damaging Het
Dio1 A T 4: 107,164,102 (GRCm39) W72R probably damaging Het
Elapor1 T C 3: 108,376,864 (GRCm39) R453G probably damaging Het
Exph5 T A 9: 53,284,609 (GRCm39) N563K possibly damaging Het
Foxn1 C A 11: 78,252,399 (GRCm39) E330* probably null Het
Fzd7 G T 1: 59,522,495 (GRCm39) R126L possibly damaging Het
Gmnn A G 13: 24,937,351 (GRCm39) Y147H probably benign Het
Gpa33 A G 1: 165,980,186 (GRCm39) N83S probably benign Het
Hdac4 A G 1: 91,889,173 (GRCm39) probably null Het
Hydin A G 8: 111,261,972 (GRCm39) D2691G probably benign Het
Ifi203 A T 1: 173,756,787 (GRCm39) I332N unknown Het
Inpp1 A G 1: 52,829,306 (GRCm39) S238P probably benign Het
Jmy A G 13: 93,589,894 (GRCm39) probably null Het
Kcnab3 C T 11: 69,222,337 (GRCm39) Q327* probably null Het
Kctd1 A G 18: 15,194,853 (GRCm39) V590A probably benign Het
Lrrc8e A T 8: 4,284,504 (GRCm39) H243L probably damaging Het
Lsr A G 7: 30,657,670 (GRCm39) L498S probably benign Het
Mapkbp1 A G 2: 119,843,556 (GRCm39) D268G probably damaging Het
Mfn1 T C 3: 32,598,287 (GRCm39) V203A possibly damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Or11i1 A G 3: 106,729,737 (GRCm39) I46T probably benign Het
Or12j4 T C 7: 140,046,423 (GRCm39) F103S probably damaging Het
Or8g30 T C 9: 39,230,487 (GRCm39) Y141C probably benign Het
Pabpc6 T C 17: 9,886,769 (GRCm39) E594G probably damaging Het
Pald1 A T 10: 61,176,989 (GRCm39) probably null Het
Pdpk1 A G 17: 24,325,938 (GRCm39) I113T possibly damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pi4kb T C 3: 94,906,219 (GRCm39) S589P probably damaging Het
Pik3ca G A 3: 32,496,981 (GRCm39) probably null Het
Plekhg4 A T 8: 106,103,271 (GRCm39) M315L probably benign Het
Proz G A 8: 13,123,472 (GRCm39) V248M possibly damaging Het
Prss1 T C 6: 41,438,183 (GRCm39) Y37H probably damaging Het
R3hdml T A 2: 163,337,612 (GRCm39) W89R probably damaging Het
Ranbp3l A G 15: 9,057,293 (GRCm39) T319A probably benign Het
Scn4a C T 11: 106,215,054 (GRCm39) A1246T probably damaging Het
Sdr42e1 T A 8: 118,389,999 (GRCm39) Y214F probably benign Het
Slc10a2 C T 8: 5,148,565 (GRCm39) V127I probably benign Het
Slc16a1 T A 3: 104,560,148 (GRCm39) M151K possibly damaging Het
Slc25a25 C T 2: 32,310,391 (GRCm39) E123K probably damaging Het
Ssbp2 T A 13: 91,818,525 (GRCm39) M171K possibly damaging Het
Styk1 A G 6: 131,286,946 (GRCm39) V183A probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tspan18 T G 2: 93,040,200 (GRCm39) D185A probably benign Het
Tti2 T A 8: 31,645,570 (GRCm39) F320Y probably damaging Het
Ttn T C 2: 76,608,621 (GRCm39) I17798M probably damaging Het
Ube2j1 C A 4: 33,036,759 (GRCm39) H28N probably benign Het
Vmn1r195 A C 13: 22,463,342 (GRCm39) I271L possibly damaging Het
Vmn2r81 A C 10: 79,103,166 (GRCm39) T120P possibly damaging Het
Vmn2r-ps158 A T 7: 42,673,965 (GRCm39) Y348F possibly damaging Het
Wtip A G 7: 33,824,908 (GRCm39) probably null Het
Zc3h12d C T 10: 7,729,022 (GRCm39) H129Y probably damaging Het
Zfp600 T G 4: 146,131,673 (GRCm39) S114A 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
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
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'- ATGGATTTTGAATGGCCGTCC -3'
(R):5'- TCCTTTCAAGAGAGTTTACACCC -3'

Sequencing Primer
(F):5'- AACTGGGATAAATGTCGTCCGTTC -3'
(R):5'- GAGAGTTTACACCCAAATTACAGAAG -3'
Posted On 2022-03-25