Incidental Mutation 'IGL02883:Ist1'
ID 362896
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: 0.883) question?
Stock # IGL02883
Quality Score
Status
Chromosome 8
Chromosomal Location 110397957-110419892 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 110410300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034164]
AlphaFold Q9CX00
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: 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,766,972 (GRCm39) S186R possibly damaging Het
Acap2 A G 16: 30,915,163 (GRCm39) probably benign Het
Cacna1h G T 17: 25,599,506 (GRCm39) R1726S probably damaging Het
Cdca2 T C 14: 67,944,946 (GRCm39) S133G probably damaging Het
Cep295nl A T 11: 118,224,735 (GRCm39) S36R probably benign Het
Crispld1 A G 1: 17,817,013 (GRCm39) N190S possibly damaging Het
Crtam A G 9: 40,905,797 (GRCm39) V44A probably benign Het
Crtc1 C T 8: 70,858,775 (GRCm39) G112S probably benign Het
Cyp17a1 T C 19: 46,657,790 (GRCm39) N254S probably benign Het
Dmrta1 T C 4: 89,577,011 (GRCm39) S156P probably benign Het
Eno2 A C 6: 124,743,172 (GRCm39) V188G probably damaging Het
Fam20a A T 11: 109,565,953 (GRCm39) I427N probably damaging Het
Fat2 T C 11: 55,147,444 (GRCm39) K3933E probably benign Het
Igkv8-30 T C 6: 70,094,601 (GRCm39) M1V probably null Het
Kank4 T C 4: 98,661,690 (GRCm39) E765G possibly damaging Het
Kat14 T C 2: 144,235,449 (GRCm39) L92S probably damaging Het
Kcnu1 G A 8: 26,339,855 (GRCm39) V58I probably benign Het
Lrba T A 3: 86,261,513 (GRCm39) V1489E probably damaging Het
Lrba T A 3: 86,352,720 (GRCm39) I1956N probably damaging Het
Mdn1 G A 4: 32,763,199 (GRCm39) V5100I probably benign Het
Mkrn2os C A 6: 115,563,670 (GRCm39) G122* probably null Het
Nme3 T C 17: 25,115,880 (GRCm39) Y78H probably benign Het
Pira13 A G 7: 3,825,179 (GRCm39) S488P possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ppp2r5c T G 12: 110,488,997 (GRCm39) V56G possibly damaging Het
Pramel16 T C 4: 143,676,418 (GRCm39) T229A possibly damaging Het
Prdm10 G A 9: 31,238,644 (GRCm39) V179M probably damaging Het
Rab11fip2 A G 19: 59,895,430 (GRCm39) V344A probably damaging Het
Selp G A 1: 163,957,671 (GRCm39) A267T probably benign Het
Sf3a1 T A 11: 4,129,192 (GRCm39) W718R probably damaging Het
Taar9 T C 10: 23,985,378 (GRCm39) N19D probably benign Het
Tas2r113 T G 6: 132,870,382 (GRCm39) S137A probably damaging Het
Traf4 A T 11: 78,052,447 (GRCm39) I66N possibly damaging Het
Ucp3 A T 7: 100,129,849 (GRCm39) T164S probably benign Het
Uggt1 A T 1: 36,216,696 (GRCm39) N96K probably benign Het
Uqcc1 T A 2: 155,753,749 (GRCm39) Q42L possibly damaging Het
Vmn1r128 A G 7: 21,083,440 (GRCm39) K48R probably benign Het
Other mutations in Ist1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Ist1 APN 8 110,409,243 (GRCm39) missense probably damaging 0.99
IGL01888:Ist1 APN 8 110,410,400 (GRCm39) utr 5 prime probably benign
IGL02117:Ist1 APN 8 110,405,584 (GRCm39) missense probably damaging 1.00
IGL02240:Ist1 APN 8 110,408,836 (GRCm39) splice site probably benign
IGL02438:Ist1 APN 8 110,402,002 (GRCm39) unclassified probably benign
R0008:Ist1 UTSW 8 110,403,418 (GRCm39) missense probably benign 0.04
R0008:Ist1 UTSW 8 110,403,418 (GRCm39) missense probably benign 0.04
R0165:Ist1 UTSW 8 110,401,998 (GRCm39) unclassified probably benign
R1835:Ist1 UTSW 8 110,405,515 (GRCm39) missense probably damaging 1.00
R6974:Ist1 UTSW 8 110,404,284 (GRCm39) missense probably damaging 0.98
R7092:Ist1 UTSW 8 110,409,228 (GRCm39) critical splice donor site probably null
R7395:Ist1 UTSW 8 110,404,159 (GRCm39) missense probably benign
R8303:Ist1 UTSW 8 110,410,412 (GRCm39) critical splice acceptor site probably null
R9566:Ist1 UTSW 8 110,408,816 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18