Incidental Mutation 'R6395:Msto1'
ID 514700
Institutional Source Beutler Lab
Gene Symbol Msto1
Ensembl Gene ENSMUSG00000068922
Gene Name misato 1, mitochondrial distribution and morphology regulator
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R6395 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 88816923-88821257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88812781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 1854 (A1854V)
Ref Sequence ENSEMBL: ENSMUSP00000088461 (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
AA Change: A1853V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199
AA Change: A1853V

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 noncoding transcript
Transcript: ENSMUST00000083302
Predicted Effect possibly damaging
Transcript: ENSMUST00000090942
AA Change: A1854V

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199
AA Change: A1854V

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 unknown
Transcript: ENSMUST00000107494
AA Change: A572T
SMART Domains Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922
AA Change: A572T

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
AA Change: A1853V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199
AA Change: A1853V

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
SMART Domains Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922

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: ENSMUST00000137243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198113
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 C A 2: 113,879,731 (GRCm39) E243* probably null Het
Ahi1 T C 10: 20,855,491 (GRCm39) I600T possibly damaging Het
Apob A G 12: 8,058,507 (GRCm39) T2330A probably benign Het
Cabin1 A T 10: 75,582,576 (GRCm39) M280K probably benign Het
Ccdc117 T C 11: 5,484,762 (GRCm39) probably null Het
Cct8 G T 16: 87,283,364 (GRCm39) Y292* probably null Het
Celf1 A G 2: 90,834,203 (GRCm39) I165V probably benign Het
Cenpc1 A T 5: 86,183,429 (GRCm39) N453K probably benign Het
Chst10 T C 1: 38,910,770 (GRCm39) I131M probably damaging Het
Cltc A G 11: 86,616,006 (GRCm39) I420T probably damaging Het
Cspg4b T G 13: 113,506,003 (GRCm39) C2377W probably damaging Het
Dact3 A C 7: 16,617,086 (GRCm39) Q95P probably damaging Het
Dennd2c T C 3: 103,056,540 (GRCm39) probably null Het
Dock2 G T 11: 34,182,874 (GRCm39) H1586Q probably damaging Het
Dst T C 1: 34,221,771 (GRCm39) M2525T probably benign Het
Egflam T C 15: 7,261,176 (GRCm39) H786R probably damaging Het
Eml6 T C 11: 29,759,321 (GRCm39) T811A probably benign Het
Epha1 T C 6: 42,343,106 (GRCm39) T148A probably damaging Het
Fsip1 A C 2: 118,067,406 (GRCm39) S306A probably damaging Het
Gga2 A T 7: 121,607,661 (GRCm39) probably null Het
Gm10801 C CGTT 2: 98,494,152 (GRCm39) probably benign Het
Gm9837 T A 11: 53,360,885 (GRCm39) probably benign Het
Gnl2 A T 4: 124,940,058 (GRCm39) Q310L probably damaging Het
H2-M1 T C 17: 36,982,701 (GRCm39) D53G probably benign Het
Hmcn2 T A 2: 31,259,269 (GRCm39) D1036E probably damaging Het
Htr3a A T 9: 48,811,871 (GRCm39) D381E probably benign Het
Igdcc4 G A 9: 65,042,400 (GRCm39) G106R probably damaging Het
Igfbp2 A G 1: 72,864,078 (GRCm39) T114A probably damaging Het
Ints14 A G 9: 64,885,406 (GRCm39) probably null Het
Kcnt1 T A 2: 25,799,251 (GRCm39) M906K possibly damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lars2 A G 9: 123,200,990 (GRCm39) Q18R probably benign Het
Mndal C T 1: 173,698,999 (GRCm39) C222Y possibly damaging Het
Musk G A 4: 58,286,169 (GRCm39) G20R probably benign Het
Or6c215 G T 10: 129,638,013 (GRCm39) P127Q probably damaging Het
Oxct1 G T 15: 4,056,309 (GRCm39) S19I possibly damaging Het
Papss2 G A 19: 32,641,876 (GRCm39) G517D probably damaging Het
Parp14 T C 16: 35,676,918 (GRCm39) S1017G probably benign Het
Pde2a A G 7: 101,150,242 (GRCm39) Q227R probably benign Het
Pdlim5 G T 3: 142,020,183 (GRCm39) P92Q probably damaging Het
Pkd1l3 C T 8: 110,350,595 (GRCm39) T480I probably benign Het
Pla2g4c C T 7: 13,077,933 (GRCm39) T357I probably benign Het
Ppp3ca A G 3: 136,583,531 (GRCm39) R213G possibly damaging Het
Pramel18 G A 4: 101,767,189 (GRCm39) R146H probably benign Het
Prrc1 C T 18: 57,495,619 (GRCm39) S32L probably null Het
Prss47 C T 13: 65,197,116 (GRCm39) V207I probably benign Het
Prtg G A 9: 72,819,414 (GRCm39) V1136I possibly damaging Het
Psmb8 T A 17: 34,418,265 (GRCm39) M69K possibly damaging Het
Rb1 A T 14: 73,436,636 (GRCm39) D876E probably damaging Het
Rnasel T C 1: 153,637,867 (GRCm39) M680T probably damaging Het
Rnf111 G T 9: 70,383,692 (GRCm39) N80K possibly damaging Het
Senp1 C T 15: 97,946,074 (GRCm39) C557Y probably damaging Het
Serpina3a A T 12: 104,082,710 (GRCm39) Y161F probably damaging Het
Serpinb11 A T 1: 107,299,781 (GRCm39) probably null Het
Sgpl1 C A 10: 60,947,936 (GRCm39) probably null Het
Slc37a4 A G 9: 44,310,576 (GRCm39) Y60C probably damaging Het
Slc38a10 A G 11: 120,015,208 (GRCm39) S381P probably benign Het
Slc5a7 C T 17: 54,585,849 (GRCm39) V323I probably damaging Het
Slco1a7 T A 6: 141,668,818 (GRCm39) probably null Het
Smarcal1 A T 1: 72,655,716 (GRCm39) E665V possibly damaging Het
Specc1 C A 11: 62,023,164 (GRCm39) N736K probably damaging Het
Tas2r121 T C 6: 132,677,495 (GRCm39) Y159C probably benign Het
Tex54 A G 19: 8,718,462 (GRCm39) D68G probably benign Het
Trank1 A G 9: 111,196,268 (GRCm39) I1431V probably damaging Het
Ttll6 T C 11: 96,047,414 (GRCm39) V671A probably benign Het
Ttn A T 2: 76,748,931 (GRCm39) probably benign Het
Uimc1 T C 13: 55,188,389 (GRCm39) T557A possibly damaging Het
Uri1 C A 7: 37,661,974 (GRCm39) V446L probably benign Het
Vpreb1b C T 16: 17,798,771 (GRCm39) R86C probably damaging Het
Vwa8 A G 14: 79,331,184 (GRCm39) K1231E probably benign Het
Xcr1 G A 9: 123,684,854 (GRCm39) R303C probably damaging Het
Zfp619 C A 7: 39,186,454 (GRCm39) A828E possibly damaging Het
Zfp687 T C 3: 94,915,049 (GRCm39) S1151G possibly damaging 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
R4897:Msto1 UTSW 3 88,819,559 (GRCm39) missense probably benign 0.02
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
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'- TCATTGTGGACTCTTCAGGGATTC -3'
(R):5'- TGTTGGCACACACCTTCAC -3'

Sequencing Primer
(F):5'- TCAGGGATTCTTAAGGGACTGTAACC -3'
(R):5'- TTCACTCCCAGCTGGCAGAG -3'
Posted On 2018-05-04