Incidental Mutation 'IGL02438:Ist1'
ID293363
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ist1
Ensembl Gene ENSMUSG00000031729
Gene Nameincreased sodium tolerance 1 homolog (yeast)
Synonyms2400003C14Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.595) question?
Stock #IGL02438
Quality Score
Status
Chromosome8
Chromosomal Location109671325-109693260 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 109675370 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000034164] [ENSMUST00000057344] [ENSMUST00000109242] [ENSMUST00000212537]
Predicted Effect probably benign
Transcript: ENSMUST00000034164
SMART Domains Protein: ENSMUSP00000034164
Gene: ENSMUSG00000031729

DomainStartEndE-ValueType
Pfam:Ist1 12 176 4.4e-65 PFAM
low complexity region 207 226 N/A INTRINSIC
low complexity region 229 239 N/A INTRINSIC
internal_repeat_1 240 278 8.47e-5 PROSPERO
internal_repeat_1 294 332 8.47e-5 PROSPERO
low complexity region 333 343 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000057344
SMART Domains Protein: ENSMUSP00000051512
Gene: ENSMUSG00000048827

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
CLECT 26 142 4.25e-1 SMART
internal_repeat_2 143 245 2.25e-8 PROSPERO
low complexity region 246 270 N/A INTRINSIC
low complexity region 272 296 N/A INTRINSIC
low complexity region 298 322 N/A INTRINSIC
low complexity region 324 348 N/A INTRINSIC
internal_repeat_1 349 431 1.22e-8 PROSPERO
internal_repeat_2 378 466 2.25e-8 PROSPERO
internal_repeat_1 518 731 1.22e-8 PROSPERO
GPS 1007 1056 3.62e-5 SMART
transmembrane domain 1075 1094 N/A INTRINSIC
LH2 1119 1238 1.01e-9 SMART
transmembrane domain 1282 1304 N/A INTRINSIC
transmembrane domain 1319 1341 N/A INTRINSIC
low complexity region 1398 1408 N/A INTRINSIC
low complexity region 1451 1460 N/A INTRINSIC
low complexity region 1484 1497 N/A INTRINSIC
transmembrane domain 1534 1556 N/A INTRINSIC
transmembrane domain 1576 1595 N/A INTRINSIC
Pfam:PKD_channel 1695 2110 2.8e-86 PFAM
Pfam:Ion_trans 1858 2114 2.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109242
SMART Domains Protein: ENSMUSP00000104865
Gene: ENSMUSG00000048827

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
CLECT 26 142 4.25e-1 SMART
internal_repeat_2 143 245 2.63e-8 PROSPERO
low complexity region 246 270 N/A INTRINSIC
low complexity region 272 296 N/A INTRINSIC
low complexity region 298 322 N/A INTRINSIC
low complexity region 324 348 N/A INTRINSIC
internal_repeat_1 349 440 3.96e-14 PROSPERO
internal_repeat_2 378 466 2.63e-8 PROSPERO
internal_repeat_1 518 724 3.96e-14 PROSPERO
GPS 1017 1066 3.62e-5 SMART
transmembrane domain 1085 1104 N/A INTRINSIC
LH2 1129 1248 1.01e-9 SMART
transmembrane domain 1292 1314 N/A INTRINSIC
transmembrane domain 1329 1351 N/A INTRINSIC
low complexity region 1408 1418 N/A INTRINSIC
low complexity region 1461 1470 N/A INTRINSIC
low complexity region 1494 1507 N/A INTRINSIC
transmembrane domain 1544 1566 N/A INTRINSIC
transmembrane domain 1586 1605 N/A INTRINSIC
Pfam:PKD_channel 1705 2120 1.3e-86 PFAM
Pfam:Ion_trans 1868 2124 4.3e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212170
Predicted Effect probably benign
Transcript: ENSMUST00000212537
Predicted Effect probably benign
Transcript: ENSMUST00000212545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212973
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that which occurs during membrane abscission in cytokinesis. There is a pseudogene for this gene on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,501,038 N648S probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dna2 A G 10: 62,957,062 I285M possibly damaging Het
Fbxw8 A G 5: 118,095,693 F291S probably benign Het
Gm6619 T C 6: 131,490,435 S88P possibly damaging Het
Muc13 T A 16: 33,807,980 S367T possibly damaging Het
Necab3 T A 2: 154,546,044 D284V probably damaging Het
Nit2 G A 16: 57,161,148 Q83* probably null Het
Ppcs A G 4: 119,421,692 probably benign Het
Slc26a2 G T 18: 61,202,217 H55N possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Trmt2b C A X: 134,243,083 V219L probably benign Het
Ugt3a1 A G 15: 9,291,976 D27G possibly damaging Het
Vmn2r74 A G 7: 85,952,616 F605L probably damaging Het
Vmn2r79 T C 7: 87,002,536 L381P probably damaging Het
Other mutations in Ist1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Ist1 APN 8 109682611 missense probably damaging 0.99
IGL01888:Ist1 APN 8 109683768 utr 5 prime probably benign
IGL02117:Ist1 APN 8 109678952 missense probably damaging 1.00
IGL02240:Ist1 APN 8 109682204 splice site probably benign
IGL02883:Ist1 APN 8 109683668 splice site probably benign
R0008:Ist1 UTSW 8 109676786 missense probably benign 0.04
R0008:Ist1 UTSW 8 109676786 missense probably benign 0.04
R0165:Ist1 UTSW 8 109675366 unclassified probably benign
R1835:Ist1 UTSW 8 109678883 missense probably damaging 1.00
R6974:Ist1 UTSW 8 109677652 missense probably damaging 0.98
R7092:Ist1 UTSW 8 109682596 critical splice donor site probably null
Posted On2015-04-16