Incidental Mutation 'IGL01505:Msto1'
ID89021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msto1
Ensembl Gene ENSMUSG00000068922
Gene Namemisato 1, mitochondrial distribution and morphology regulator
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.838) question?
Stock #IGL01505
Quality Score
Status
Chromosome3
Chromosomal Location88905107-88913999 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 88910743 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 388 (T388M)
Ref Sequence ENSEMBL: ENSMUSP00000103118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081695] [ENSMUST00000090942] [ENSMUST00000107494] [ENSMUST00000107498] [ENSMUST00000126245]
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 noncoding transcript
Transcript: ENSMUST00000083302
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: T388M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922
AA Change: T388M

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: T375M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922
AA Change: T375M

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: ENSMUST00000137243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147828
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T C 18: 68,947,347 probably null Het
A2m A G 6: 121,676,947 N1413S possibly damaging Het
Arhgap45 A T 10: 80,026,542 N488Y probably benign Het
Arid4a G A 12: 71,037,115 D94N probably damaging Het
Atp7a A G X: 106,109,830 K1114E probably damaging Het
Atp8a2 C T 14: 60,028,063 V275M probably benign Het
Ceacam12 T C 7: 18,067,432 V112A probably damaging Het
Cep295 T A 9: 15,318,049 D2256V probably benign Het
Chid1 A T 7: 141,513,894 probably null Het
Clcn5 A T X: 7,170,439 L268* probably null Het
Cldn17 A G 16: 88,506,703 I46T possibly damaging Het
Cnot1 A T 8: 95,728,718 I2025N probably damaging Het
Cntn5 C T 9: 9,706,087 V574M probably damaging Het
Col14a1 T A 15: 55,455,223 C1373S unknown Het
Col9a1 A G 1: 24,185,124 N129S unknown Het
Cp C T 3: 19,977,192 P598S possibly damaging Het
Cpb1 G A 3: 20,266,246 R150C probably damaging Het
Cyp2j7 T A 4: 96,227,680 probably null Het
Dnajb7 T C 15: 81,407,491 E215G possibly damaging Het
Dock1 G A 7: 135,158,510 R1634Q possibly damaging Het
Dopey2 A G 16: 93,757,116 T313A possibly damaging Het
Fgd2 T A 17: 29,366,997 V185E probably damaging Het
Flnb T C 14: 7,902,003 probably null Het
Fzd7 A G 1: 59,483,903 E315G probably benign Het
Gjc1 T A 11: 102,800,726 K150N probably benign Het
Gm436 C T 4: 144,674,618 V99M probably damaging Het
Gpihbp1 C T 15: 75,598,128 probably benign Het
Gpr160 T C 3: 30,895,853 S25P possibly damaging Het
Grsf1 G A 5: 88,672,749 R58* probably null Het
Ifit1 T A 19: 34,648,454 M330K probably benign Het
Igkv1-122 T C 6: 68,017,194 V22A probably benign Het
Ikbke A T 1: 131,255,311 D692E probably benign Het
Il15ra T C 2: 11,733,145 probably benign Het
Il18rap A G 1: 40,537,084 I252V probably damaging Het
Klra10 C T 6: 130,272,717 G202R probably damaging Het
Kpna7 A G 5: 144,992,851 V388A probably damaging Het
L2hgdh A G 12: 69,721,401 S108P probably damaging Het
Naip1 T C 13: 100,425,933 E908G probably damaging Het
Neto1 C A 18: 86,473,689 D238E possibly damaging Het
Nlrp5 T A 7: 23,417,734 D294E probably benign Het
Nr3c2 T C 8: 76,909,187 S306P probably damaging Het
Olfr890 T A 9: 38,143,871 C240* probably null Het
Pard3 T A 8: 127,324,063 L202H probably damaging Het
Pdzd2 T C 15: 12,458,207 N190S probably damaging Het
Pi4ka T C 16: 17,309,358 D1077G probably benign Het
Pmfbp1 A C 8: 109,513,911 L208F probably damaging Het
Pms1 C T 1: 53,206,971 D470N probably benign Het
Prdm10 T C 9: 31,327,282 F108L probably benign Het
Rab11fip1 A T 8: 27,154,776 M327K possibly damaging Het
Slc37a4 T A 9: 44,399,964 L184Q probably damaging Het
Smdt1 T C 15: 82,347,893 probably benign Het
Smg6 A G 11: 75,156,291 Y1270C probably damaging Het
Speer4f2 T A 5: 17,376,567 V169E possibly damaging Het
Stpg2 C T 3: 139,317,453 A410V probably benign Het
Tnrc6b T A 15: 80,879,963 D555E probably benign Het
Tsg101 A G 7: 46,909,060 Y46H probably damaging Het
Vmn2r111 G A 17: 22,548,572 S648L probably benign Het
Vmn2r73 T A 7: 85,858,059 R682* probably null Het
Xkr5 A T 8: 18,933,498 I676N probably damaging Het
Other mutations in Msto1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Msto1 APN 3 88913686 missense probably benign 0.12
IGL01309:Msto1 APN 3 88913686 missense probably benign 0.12
IGL01327:Msto1 APN 3 88910632 unclassified probably null
IGL01914:Msto1 APN 3 88912903 missense probably benign 0.39
IGL02292:Msto1 APN 3 88911824 missense probably benign 0.20
IGL02349:Msto1 APN 3 88910898 missense possibly damaging 0.95
IGL02510:Msto1 APN 3 88910345 missense probably damaging 1.00
IGL03120:Msto1 APN 3 88910809 missense probably damaging 1.00
R0041:Msto1 UTSW 3 88910235 missense probably damaging 0.97
R0110:Msto1 UTSW 3 88911541 missense probably benign 0.02
R0282:Msto1 UTSW 3 88911577 missense possibly damaging 0.91
R0384:Msto1 UTSW 3 88910339 nonsense probably null
R0450:Msto1 UTSW 3 88911541 missense probably benign 0.02
R0469:Msto1 UTSW 3 88911541 missense probably benign 0.02
R0510:Msto1 UTSW 3 88911541 missense probably benign 0.02
R2088:Msto1 UTSW 3 88910990 missense probably damaging 1.00
R2516:Msto1 UTSW 3 88911893 splice site probably null
R4897:Msto1 UTSW 3 88912252 missense probably benign 0.02
R5661:Msto1 UTSW 3 88912885 missense possibly damaging 0.66
R6179:Msto1 UTSW 3 88910947 missense probably damaging 1.00
R6326:Msto1 UTSW 3 88912098 missense probably damaging 1.00
R6395:Msto1 UTSW 3 88905474 missense possibly damaging 0.77
R7039:Msto1 UTSW 3 88911390 missense probably damaging 0.96
R7399:Msto1 UTSW 3 88911823 missense probably damaging 1.00
R7557:Msto1 UTSW 3 88910128 critical splice donor site probably null
Posted On2013-12-03