Incidental Mutation 'IGL02510:Msto1'
ID296482
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: 0.859) question?
Stock #IGL02510
Quality Score
Status
Chromosome3
Chromosomal Location88905107-88913999 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88910345 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 439 (Y439H)
Ref Sequence ENSEMBL: ENSMUSP00000115645 (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 damaging
Transcript: ENSMUST00000107494
AA Change: Y452H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922
AA Change: Y452H

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 damaging
Transcript: ENSMUST00000126245
AA Change: Y439H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922
AA Change: Y439H

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 G A 1: 171,251,390 S193N probably benign Het
Arrdc1 C A 2: 24,935,100 V16F probably damaging Het
Bsx A T 9: 40,874,221 Q15L possibly damaging Het
Casp8ap2 A G 4: 32,639,704 T253A probably benign Het
Cdkl3 T C 11: 52,011,270 L102P probably damaging Het
Cgnl1 G T 9: 71,725,357 N237K probably benign Het
Cldn14 T A 16: 93,919,956 M1L probably damaging Het
Col1a2 C T 6: 4,516,398 R171C unknown Het
Col7a1 C A 9: 108,973,231 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dhrs2 G A 14: 55,236,075 V64M probably damaging Het
Disp3 G A 4: 148,252,701 H886Y probably benign Het
Dst G A 1: 34,229,251 probably null Het
Fnbp4 T C 2: 90,751,475 V215A probably benign Het
Fzd9 A G 5: 135,249,615 L472P probably damaging Het
Gm5096 A G 18: 87,757,529 Q392R probably benign Het
Hpd C T 5: 123,181,910 R15Q possibly damaging Het
Htra2 A G 6: 83,051,611 V412A probably damaging Het
Ift80 A G 3: 68,898,543 F722S probably benign Het
Kcnq2 T C 2: 181,081,361 T741A probably benign Het
Kl A C 5: 150,989,001 E738D probably damaging Het
Klra4 T A 6: 130,059,543 I178L probably damaging Het
Klra9 T C 6: 130,191,222 E27G probably benign Het
Kntc1 T C 5: 123,819,062 Y2145H probably benign Het
Mbd5 T A 2: 49,257,029 M417K probably benign Het
Med31 C T 11: 72,212,056 M75I probably benign Het
Mpeg1 A T 19: 12,461,424 D82V probably damaging Het
Olfr23 G A 11: 73,941,005 G253E probably damaging Het
Olfr332 T C 11: 58,490,539 Y72C probably damaging Het
Olfr344 T C 2: 36,568,681 S28P possibly damaging Het
Olfr488 T A 7: 108,256,141 probably benign Het
Prtg G A 9: 72,890,869 V706M probably damaging Het
Sfxn2 G T 19: 46,588,272 A186S probably benign Het
Slc12a5 A T 2: 164,982,808 probably benign Het
Slc7a3 T C X: 101,082,833 E222G probably benign Het
Stox1 A T 10: 62,664,047 H911Q probably benign Het
Sult3a2 A T 10: 33,766,439 N289K probably benign Het
Supt20 A G 3: 54,715,524 probably benign Het
Tchh A G 3: 93,444,078 E275G unknown Het
Tectb A T 19: 55,191,511 N263I probably damaging Het
Tsga10 C T 1: 37,760,985 R608Q possibly damaging Het
Ttyh3 A G 5: 140,629,464 Y390H probably damaging Het
Utf1 C A 7: 139,944,016 S48* probably null Het
Zfp358 G A 8: 3,496,786 G456D probably benign Het
Zufsp A G 10: 33,930,154 probably null 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
IGL01505:Msto1 APN 3 88910743 missense probably benign 0.00
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
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
R7583:Msto1 UTSW 3 88912929 critical splice acceptor site probably null
R7620:Msto1 UTSW 3 88911307 missense possibly damaging 0.87
Posted On2015-04-16