Incidental Mutation 'IGL01064:Ist1'
ID 51708
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ist1
Ensembl Gene ENSMUSG00000031729
Gene Name increased sodium tolerance 1 homolog (yeast)
Synonyms 2400003C14Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.866) question?
Stock # IGL01064
Quality Score
Chromosome 8
Chromosomal Location 109671325-109693260 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109682611 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 86 (I86V)
Ref Sequence ENSEMBL: ENSMUSP00000034164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034164]
AlphaFold Q9CX00
Predicted Effect probably damaging
Transcript: ENSMUST00000034164
AA Change: I86V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034164
Gene: ENSMUSG00000031729
AA Change: I86V

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: 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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,483,855 (GRCm38) T4137S probably benign Het
Abcb1a T C 5: 8,732,388 (GRCm38) Y924H possibly damaging Het
Ash1l T G 3: 89,072,484 (GRCm38) C2772G probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm38) S162N probably damaging Het
Cpne6 T C 14: 55,512,730 (GRCm38) F106S probably damaging Het
Cysltr1 A T X: 106,578,736 (GRCm38) I48N probably damaging Het
Dsg1a A T 18: 20,340,206 (GRCm38) I779F probably damaging Het
Fpr-rs4 T A 17: 18,022,517 (GRCm38) L262H probably damaging Het
Gart G A 16: 91,623,007 (GRCm38) R871C probably damaging Het
Get4 C T 5: 139,252,522 (GRCm38) R20C probably damaging Het
Gm13030 G A 4: 138,873,558 (GRCm38) probably benign Het
Gm17654 A T 14: 43,578,998 (GRCm38) H49Q unknown Het
Gpnmb A G 6: 49,055,659 (GRCm38) I506V probably benign Het
Kcnip1 C T 11: 33,633,192 (GRCm38) D198N probably damaging Het
Kif5c A G 2: 49,694,816 (GRCm38) I184V possibly damaging Het
Mink1 A T 11: 70,603,481 (GRCm38) M236L probably benign Het
Muc5ac A T 7: 141,807,473 (GRCm38) N1507I probably benign Het
Nrxn2 G T 19: 6,517,053 (GRCm38) E1326D probably damaging Het
Olfr1329 A T 4: 118,916,894 (GRCm38) M191K possibly damaging Het
Olfr1469 T C 19: 13,411,226 (GRCm38) I219T probably benign Het
Olfr635 A T 7: 103,979,792 (GRCm38) Y200F probably benign Het
Patj T C 4: 98,496,973 (GRCm38) S326P possibly damaging Het
Pdha2 T C 3: 141,211,015 (GRCm38) H244R possibly damaging Het
Pkhd1 C T 1: 20,534,530 (GRCm38) probably benign Het
Ptk7 A T 17: 46,573,566 (GRCm38) L746* probably null Het
Rad54b G A 4: 11,604,866 (GRCm38) G438D probably damaging Het
Rbm27 T C 18: 42,319,814 (GRCm38) V536A possibly damaging Het
Rundc3b T A 5: 8,569,553 (GRCm38) M135L probably damaging Het
Sorcs2 T C 5: 36,065,352 (GRCm38) Y353C probably damaging Het
Srcap T C 7: 127,559,892 (GRCm38) probably benign Het
Sytl5 A G X: 9,905,595 (GRCm38) H66R probably benign Het
Tlr7 T A X: 167,308,211 (GRCm38) E93V probably damaging Het
Tmem156 A G 5: 65,079,984 (GRCm38) L76S probably damaging Het
Tmem246 C T 4: 49,586,860 (GRCm38) V103M possibly damaging Het
Tomm70a T C 16: 57,152,612 (GRCm38) F571S probably damaging Het
Trmt10b A G 4: 45,314,347 (GRCm38) Y261C possibly damaging Het
Other mutations in Ist1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01888:Ist1 APN 8 109,683,768 (GRCm38) utr 5 prime probably benign
IGL02117:Ist1 APN 8 109,678,952 (GRCm38) missense probably damaging 1.00
IGL02240:Ist1 APN 8 109,682,204 (GRCm38) splice site probably benign
IGL02438:Ist1 APN 8 109,675,370 (GRCm38) unclassified probably benign
IGL02883:Ist1 APN 8 109,683,668 (GRCm38) splice site probably benign
R0008:Ist1 UTSW 8 109,676,786 (GRCm38) missense probably benign 0.04
R0008:Ist1 UTSW 8 109,676,786 (GRCm38) missense probably benign 0.04
R0165:Ist1 UTSW 8 109,675,366 (GRCm38) unclassified probably benign
R1835:Ist1 UTSW 8 109,678,883 (GRCm38) missense probably damaging 1.00
R6974:Ist1 UTSW 8 109,677,652 (GRCm38) missense probably damaging 0.98
R7092:Ist1 UTSW 8 109,682,596 (GRCm38) critical splice donor site probably null
R7395:Ist1 UTSW 8 109,677,527 (GRCm38) missense probably benign
R8303:Ist1 UTSW 8 109,683,780 (GRCm38) critical splice acceptor site probably null
R9566:Ist1 UTSW 8 109,682,184 (GRCm38) missense probably benign 0.00
Posted On 2013-06-21