Incidental Mutation 'R4897:Msto1'
ID 375799
Institutional Source Beutler Lab
Gene Symbol Msto1
Ensembl Gene ENSMUSG00000068922
Gene Name misato 1, mitochondrial distribution and morphology regulator
Synonyms
MMRRC Submission 042501-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R4897 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 88816923-88821257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88819559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 152 (I152F)
Ref Sequence ENSEMBL: ENSMUSP00000103118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081695] [ENSMUST00000090942] [ENSMUST00000107494] [ENSMUST00000107498] [ENSMUST00000126245]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000081695
SMART Domains Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 150 163 N/A INTRINSIC
low complexity region 240 256 N/A INTRINSIC
low complexity region 348 377 N/A INTRINSIC
low complexity region 432 439 N/A INTRINSIC
low complexity region 527 542 N/A INTRINSIC
low complexity region 683 696 N/A INTRINSIC
Blast:SANT 813 865 1e-23 BLAST
low complexity region 961 975 N/A INTRINSIC
low complexity region 1311 1329 N/A INTRINSIC
low complexity region 1418 1434 N/A INTRINSIC
low complexity region 1452 1497 N/A INTRINSIC
low complexity region 1507 1541 N/A INTRINSIC
Pfam:PAH 1652 1700 8.8e-9 PFAM
low complexity region 1800 1811 N/A INTRINSIC
coiled coil region 1919 1943 N/A INTRINSIC
low complexity region 2085 2094 N/A INTRINSIC
SANT 2153 2204 2.2e-1 SMART
low complexity region 2207 2222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090942
SMART Domains Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 150 163 N/A INTRINSIC
low complexity region 241 257 N/A INTRINSIC
low complexity region 349 378 N/A INTRINSIC
low complexity region 433 440 N/A INTRINSIC
low complexity region 528 543 N/A INTRINSIC
low complexity region 684 697 N/A INTRINSIC
Blast:SANT 814 866 2e-23 BLAST
low complexity region 962 976 N/A INTRINSIC
low complexity region 1312 1330 N/A INTRINSIC
low complexity region 1419 1435 N/A INTRINSIC
low complexity region 1453 1498 N/A INTRINSIC
low complexity region 1508 1542 N/A INTRINSIC
Pfam:PAH 1654 1700 2.1e-8 PFAM
low complexity region 1801 1812 N/A INTRINSIC
coiled coil region 1920 1944 N/A INTRINSIC
low complexity region 2086 2095 N/A INTRINSIC
SANT 2154 2205 2.2e-1 SMART
low complexity region 2208 2223 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107494
AA Change: I152F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922
AA Change: I152F

DomainStartEndE-ValueType
low complexity region 50 63 N/A INTRINSIC
Pfam:Tubulin_3 153 345 5.3e-28 PFAM
Pfam:Tubulin 169 300 7.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107498
SMART Domains Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 150 163 N/A INTRINSIC
low complexity region 240 256 N/A INTRINSIC
low complexity region 348 377 N/A INTRINSIC
low complexity region 432 439 N/A INTRINSIC
low complexity region 527 542 N/A INTRINSIC
low complexity region 683 696 N/A INTRINSIC
Blast:SANT 813 865 1e-23 BLAST
low complexity region 961 975 N/A INTRINSIC
low complexity region 1311 1329 N/A INTRINSIC
low complexity region 1418 1434 N/A INTRINSIC
low complexity region 1452 1497 N/A INTRINSIC
low complexity region 1507 1541 N/A INTRINSIC
Pfam:PAH 1652 1700 8.8e-9 PFAM
low complexity region 1800 1811 N/A INTRINSIC
coiled coil region 1919 1943 N/A INTRINSIC
low complexity region 2085 2094 N/A INTRINSIC
SANT 2153 2204 2.2e-1 SMART
low complexity region 2207 2222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126245
AA Change: I139F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922
AA Change: I139F

DomainStartEndE-ValueType
Pfam:Misat_Tub_SegII 6 120 2.1e-36 PFAM
Pfam:Tubulin_3 140 332 1.9e-27 PFAM
Pfam:Tubulin 151 288 8.7e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137243
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik C A 2: 35,266,309 (GRCm39) M120I probably damaging Het
4933427D14Rik A T 11: 72,082,342 (GRCm39) L328Q probably damaging Het
Adgrv1 A C 13: 81,709,704 (GRCm39) probably null Het
Ankrd46 A T 15: 36,484,279 (GRCm39) probably benign Het
Arhgef18 A T 8: 3,494,979 (GRCm39) M413L probably benign Het
Atp6v1e1 G A 6: 120,781,044 (GRCm39) T87M probably null Het
Bap1 T C 14: 30,980,402 (GRCm39) probably benign Het
Brf1 A G 12: 112,929,507 (GRCm39) L385P probably benign Het
C1qtnf1 A T 11: 118,338,938 (GRCm39) N203Y probably damaging Het
Catsperb A T 12: 101,569,025 (GRCm39) N899I probably damaging Het
Ccnjl A C 11: 43,470,718 (GRCm39) D162A probably damaging Het
Cd248 A C 19: 5,119,195 (GRCm39) I348L probably benign Het
Cdc20 T C 4: 118,293,029 (GRCm39) T265A probably benign Het
Cdca5 T A 19: 6,140,427 (GRCm39) L196* probably null Het
Cdk4 T A 10: 126,900,444 (GRCm39) probably benign Het
Cldn10 G A 14: 119,025,725 (GRCm39) G53S possibly damaging Het
Clec4b2 G T 6: 123,177,999 (GRCm39) E105* probably null Het
Dapk1 T A 13: 60,909,600 (GRCm39) D1404E probably benign Het
Dnah1 T C 14: 30,989,496 (GRCm39) Y3308C probably damaging Het
Dnah17 A C 11: 117,969,419 (GRCm39) Y2260D probably damaging Het
Dock8 T G 19: 25,159,001 (GRCm39) S1720A probably benign Het
Erc1 A G 6: 119,754,947 (GRCm39) probably null Het
Ergic1 A G 17: 26,848,597 (GRCm39) I66V probably benign Het
Fam186a T C 15: 99,843,158 (GRCm39) T1029A possibly damaging Het
Fat4 A T 3: 39,034,781 (GRCm39) Y2811F probably damaging Het
Flt3 A G 5: 147,306,110 (GRCm39) M310T probably damaging Het
Ganab T A 19: 8,892,355 (GRCm39) C844S probably benign Het
Gas2l2 C A 11: 83,320,041 (GRCm39) V72F probably damaging Het
Gm14401 T A 2: 176,778,573 (GRCm39) C220S probably damaging Het
Hmmr A T 11: 40,619,261 (GRCm39) V73E probably benign Het
Idi2l T G 13: 8,990,637 (GRCm39) probably benign Het
Ifih1 G T 2: 62,465,358 (GRCm39) probably benign Het
Jak3 A G 8: 72,138,048 (GRCm39) E833G probably damaging Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Ldb1 G A 19: 46,023,132 (GRCm39) A217V probably benign Het
Lrrc8c A G 5: 105,755,955 (GRCm39) T577A probably benign Het
Mfn1 T A 3: 32,600,711 (GRCm39) probably benign Het
Mki67 G A 7: 135,298,474 (GRCm39) P2187S probably damaging Het
Mrc1 T A 2: 14,323,952 (GRCm39) D1096E probably benign Het
Msi1 A G 5: 115,573,654 (GRCm39) probably benign Het
Myo9a A G 9: 59,803,800 (GRCm39) R2060G probably benign Het
Nnt A T 13: 119,541,107 (GRCm39) C44* probably null Het
Nup210l A G 3: 90,100,378 (GRCm39) D1468G probably damaging Het
Or1j16 T C 2: 36,530,906 (GRCm39) L285P probably damaging Het
Or4c10b A G 2: 89,711,476 (GRCm39) E102G probably benign Het
Or5d46 C A 2: 88,174,686 (GRCm39) C129F possibly damaging Het
Or7a40 T C 16: 16,491,482 (GRCm39) D121G probably damaging Het
P2rx3 G A 2: 84,855,270 (GRCm39) T62I probably damaging Het
Pabpc4l G T 3: 46,401,578 (GRCm39) T22K probably damaging Het
Pcdha7 A G 18: 37,108,646 (GRCm39) D557G probably damaging Het
Pcdhb20 A G 18: 37,639,298 (GRCm39) K608R possibly damaging Het
Pcnx1 A G 12: 81,964,939 (GRCm39) S369G probably damaging Het
Plod1 T C 4: 148,004,736 (GRCm39) I455V probably benign Het
Prune2 A T 19: 17,099,219 (GRCm39) E1574D probably benign Het
Ptar1 T A 19: 23,680,472 (GRCm39) L96H probably damaging Het
Rabgap1 T C 2: 37,450,583 (GRCm39) S904P probably benign Het
Rps6ka4 C T 19: 6,815,467 (GRCm39) V176I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Runx1t1 T A 4: 13,771,459 (GRCm39) M1K probably null Het
Serinc4 T A 2: 121,282,905 (GRCm39) Y419F probably damaging Het
Serpina12 A T 12: 104,004,056 (GRCm39) M192K possibly damaging Het
Spata21 T A 4: 140,832,261 (GRCm39) M474K probably damaging Het
Stpg1 T C 4: 135,246,676 (GRCm39) S135P possibly damaging Het
Tdrkh A G 3: 94,336,671 (GRCm39) D481G probably damaging Het
Ube2e1 A C 14: 18,285,268 (GRCm38) S68R probably damaging Het
Vcpip1 A C 1: 9,817,572 (GRCm39) N270K probably damaging Het
Vmn2r79 T C 7: 86,650,675 (GRCm39) F154L probably benign Het
Vwa3b A G 1: 37,153,684 (GRCm39) probably benign Het
Xdh C A 17: 74,207,703 (GRCm39) V885L probably benign Het
Zfp141 A T 7: 42,125,629 (GRCm39) V281D probably benign Het
Zfp317 T A 9: 19,558,143 (GRCm39) I119N probably benign Het
Zfp345 G A 2: 150,314,608 (GRCm39) R310C probably benign Het
Zfp760 G A 17: 21,942,229 (GRCm39) C468Y probably benign Het
Other mutations in Msto1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Msto1 APN 3 88,820,993 (GRCm39) missense probably benign 0.12
IGL01309:Msto1 APN 3 88,820,993 (GRCm39) missense probably benign 0.12
IGL01327:Msto1 APN 3 88,817,939 (GRCm39) splice site probably null
IGL01505:Msto1 APN 3 88,818,050 (GRCm39) missense probably benign 0.00
IGL01914:Msto1 APN 3 88,820,210 (GRCm39) missense probably benign 0.39
IGL02292:Msto1 APN 3 88,819,131 (GRCm39) missense probably benign 0.20
IGL02349:Msto1 APN 3 88,818,205 (GRCm39) missense possibly damaging 0.95
IGL02510:Msto1 APN 3 88,817,652 (GRCm39) missense probably damaging 1.00
IGL03120:Msto1 APN 3 88,818,116 (GRCm39) missense probably damaging 1.00
R0041:Msto1 UTSW 3 88,817,542 (GRCm39) missense probably damaging 0.97
R0110:Msto1 UTSW 3 88,818,848 (GRCm39) missense probably benign 0.02
R0282:Msto1 UTSW 3 88,818,884 (GRCm39) missense possibly damaging 0.91
R0384:Msto1 UTSW 3 88,817,646 (GRCm39) nonsense probably null
R0450:Msto1 UTSW 3 88,818,848 (GRCm39) missense probably benign 0.02
R0469:Msto1 UTSW 3 88,818,848 (GRCm39) missense probably benign 0.02
R0510:Msto1 UTSW 3 88,818,848 (GRCm39) missense probably benign 0.02
R2088:Msto1 UTSW 3 88,818,297 (GRCm39) missense probably damaging 1.00
R2516:Msto1 UTSW 3 88,819,200 (GRCm39) splice site probably null
R5661:Msto1 UTSW 3 88,820,192 (GRCm39) missense possibly damaging 0.66
R6179:Msto1 UTSW 3 88,818,254 (GRCm39) missense probably damaging 1.00
R6326:Msto1 UTSW 3 88,819,405 (GRCm39) missense probably damaging 1.00
R6395:Msto1 UTSW 3 88,812,781 (GRCm39) missense possibly damaging 0.77
R7039:Msto1 UTSW 3 88,818,697 (GRCm39) missense probably damaging 0.96
R7399:Msto1 UTSW 3 88,819,130 (GRCm39) missense probably damaging 1.00
R7557:Msto1 UTSW 3 88,817,435 (GRCm39) critical splice donor site probably null
R7583:Msto1 UTSW 3 88,820,236 (GRCm39) critical splice acceptor site probably null
R7620:Msto1 UTSW 3 88,818,614 (GRCm39) missense possibly damaging 0.87
R7993:Msto1 UTSW 3 88,817,481 (GRCm39) missense probably benign 0.17
R8015:Msto1 UTSW 3 88,818,863 (GRCm39) missense probably damaging 1.00
R8235:Msto1 UTSW 3 88,820,228 (GRCm39) missense probably damaging 1.00
R8693:Msto1 UTSW 3 88,819,184 (GRCm39) missense probably benign 0.02
R9071:Msto1 UTSW 3 88,812,414 (GRCm39) unclassified probably benign
R9246:Msto1 UTSW 3 88,819,411 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GACTCTGAGGAAGTCTGACCAG -3'
(R):5'- ACCGTTGTCTCTGAACTGG -3'

Sequencing Primer
(F):5'- TCTGACCAGACTTTGATGCTG -3'
(R):5'- AAGAGTCGGACCTGTTCTTCCAG -3'
Posted On 2016-03-17