Incidental Mutation 'IGL01309:Msto1'
ID 278265
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01309
Quality Score
Status
Chromosome 3
Chromosomal Location 88816923-88821257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88820993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 34 (R34L)
Ref Sequence ENSEMBL: ENSMUSP00000115645 (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 silent
Transcript: ENSMUST00000107494
SMART Domains Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922

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: R34L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922
AA Change: R34L

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A G 16: 16,931,410 (GRCm39) V275A possibly damaging Het
Adamts2 A G 11: 50,694,528 (GRCm39) D1105G probably benign Het
Adgrb3 T A 1: 25,151,352 (GRCm39) M195L possibly damaging Het
Adrm1 A G 2: 179,817,756 (GRCm39) probably benign Het
Atg13 T A 2: 91,509,176 (GRCm39) I457F possibly damaging Het
BC034090 T C 1: 155,102,130 (GRCm39) N45D probably damaging Het
C3 C T 17: 57,516,652 (GRCm39) probably benign Het
Cacna1a G A 8: 85,249,657 (GRCm39) G221D probably damaging Het
Calr A G 8: 85,573,335 (GRCm39) probably null Het
Chd3 C T 11: 69,248,557 (GRCm39) V825I probably damaging Het
Chdh T G 14: 29,757,761 (GRCm39) probably benign Het
Ckap5 T C 2: 91,400,529 (GRCm39) V627A probably damaging Het
Commd3 A G 2: 18,677,289 (GRCm39) E5G probably benign Het
Ddi1 T C 9: 6,265,773 (GRCm39) R199G probably damaging Het
Dennd4c A G 4: 86,723,724 (GRCm39) probably benign Het
Dok7 G A 5: 35,236,912 (GRCm39) G293D possibly damaging Het
Epm2aip1 T C 9: 111,102,596 (GRCm39) V523A probably benign Het
Fam171b C T 2: 83,709,791 (GRCm39) Q488* probably null Het
Gabbr1 G A 17: 37,359,499 (GRCm39) probably null Het
Gm5965 T G 16: 88,575,219 (GRCm39) S131A possibly damaging Het
Gpcpd1 T C 2: 132,392,244 (GRCm39) D235G probably damaging Het
Grip1 A T 10: 119,767,207 (GRCm39) K111* probably null Het
Itih4 G T 14: 30,613,706 (GRCm39) D308Y probably damaging Het
Kcnj6 A G 16: 94,633,314 (GRCm39) Y266H probably damaging Het
Lrrc41 T C 4: 115,953,663 (GRCm39) L783P probably damaging Het
Map4k5 T C 12: 69,888,737 (GRCm39) D298G probably benign Het
Mapkbp1 T C 2: 119,849,423 (GRCm39) F712L probably damaging Het
Mcoln2 T C 3: 145,869,282 (GRCm39) probably benign Het
Megf11 T A 9: 64,588,698 (GRCm39) S532R probably benign Het
Mkx T C 18: 6,937,192 (GRCm39) D284G probably benign Het
Mmp16 A G 4: 18,116,185 (GRCm39) I596M probably damaging Het
Mtmr9 A G 14: 63,764,254 (GRCm39) L491P probably damaging Het
Or4a66 T G 2: 88,531,310 (GRCm39) Y121S probably damaging Het
Or8b52 T A 9: 38,576,289 (GRCm39) I284L probably benign Het
Or9s13 T C 1: 92,548,057 (GRCm39) M143T probably damaging Het
Otor T C 2: 142,920,532 (GRCm39) V38A possibly damaging Het
Pcdhb12 G T 18: 37,569,207 (GRCm39) D118Y probably damaging Het
Prelp T C 1: 133,842,545 (GRCm39) H200R probably benign Het
Prmt5 T C 14: 54,747,334 (GRCm39) Y481C probably damaging Het
Psg23 T G 7: 18,348,465 (GRCm39) D114A probably damaging Het
Ptger4 A T 15: 5,272,239 (GRCm39) Y127N probably damaging Het
Rabgap1l C A 1: 160,528,368 (GRCm39) V385L probably benign Het
Rergl T A 6: 139,470,256 (GRCm39) K191* probably null Het
Sart3 A G 5: 113,897,311 (GRCm39) F252S probably damaging Het
Sbno1 A T 5: 124,519,769 (GRCm39) S1169T probably benign Het
Serpinb8 C T 1: 107,532,448 (GRCm39) T180M probably damaging Het
Sipa1l1 G A 12: 82,434,470 (GRCm39) E747K probably benign Het
Sptb T A 12: 76,634,237 (GRCm39) D2158V probably benign Het
Sycp2 T G 2: 177,999,904 (GRCm39) D1024A probably benign Het
Tbr1 T G 2: 61,636,411 (GRCm39) N262K possibly damaging Het
Tnrc6a A T 7: 122,770,717 (GRCm39) I836F probably benign Het
Ttn T C 2: 76,769,091 (GRCm39) E2823G probably damaging Het
Uqcrc1 T A 9: 108,778,026 (GRCm39) L441Q possibly damaging Het
Vmn1r180 T C 7: 23,652,424 (GRCm39) F196L probably damaging Het
Vmn2r111 T C 17: 22,787,997 (GRCm39) I451M possibly damaging Het
Zcchc7 A T 4: 44,926,060 (GRCm39) H353L probably damaging Het
Other mutations in Msto1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307: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
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
Posted On 2015-04-16