Incidental Mutation 'IGL02240:Ist1'
ID286046
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: 0.623) question?
Stock #IGL02240
Quality Score
Status
Chromosome8
Chromosomal Location109671325-109693260 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 109682204 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034164]
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 noncoding transcript
Transcript: ENSMUST00000212170
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand2 A G 6: 115,803,662 E1169G probably damaging Het
Cdc34 A G 10: 79,687,989 D168G possibly damaging Het
Cwc27 A T 13: 104,806,643 F130L probably damaging Het
Dglucy T A 12: 100,871,413 M635K possibly damaging Het
Eral1 G A 11: 78,077,861 R149* probably null Het
Gad1-ps A G 10: 99,444,958 noncoding transcript Het
Glis3 A T 19: 28,531,525 L353Q probably damaging Het
Gsta2 T A 9: 78,331,159 I213F probably benign Het
Kif1b A G 4: 149,246,414 V549A probably damaging Het
Lrp2 C T 2: 69,535,046 R261H probably benign Het
Msh4 T C 3: 153,873,674 N512S probably damaging Het
Nlrp2 A T 7: 5,327,823 S525T probably damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Olfr923 T A 9: 38,828,306 V205D probably benign Het
Pcdhb10 A T 18: 37,412,402 H177L possibly damaging Het
Plcb3 A T 19: 6,958,080 probably benign Het
Podxl A G 6: 31,524,998 L342P probably damaging Het
Psd4 T G 2: 24,396,377 S330A probably benign Het
Sucla2 A G 14: 73,590,847 D298G probably damaging Het
Tecr T C 8: 83,573,416 D107G probably damaging Het
Vamp4 T A 1: 162,577,877 N24K possibly damaging Het
Zfp91 A G 19: 12,776,406 probably benign 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
IGL02438:Ist1 APN 8 109675370 unclassified 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