Incidental Mutation 'IGL02515:Stip1'
ID 296728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stip1
Ensembl Gene ENSMUSG00000024966
Gene Name stress-induced phosphoprotein 1
Synonyms p60, IEF SSP 3521, Hsp70/Hsp90 organizing protein, Hop, STI1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02515
Quality Score
Status
Chromosome 19
Chromosomal Location 6998070-7017335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6999487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 432 (T432A)
Ref Sequence ENSEMBL: ENSMUSP00000025918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025918] [ENSMUST00000040772]
AlphaFold Q60864
Predicted Effect probably benign
Transcript: ENSMUST00000025918
AA Change: T432A

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025918
Gene: ENSMUSG00000024966
AA Change: T432A

DomainStartEndE-ValueType
TPR 4 37 3.07e-5 SMART
TPR 38 71 1.63e0 SMART
TPR 72 105 5.87e-2 SMART
STI1 130 169 4.84e-1 SMART
low complexity region 192 220 N/A INTRINSIC
TPR 225 258 7.45e-4 SMART
TPR 259 292 1.1e-1 SMART
TPR 300 333 1.09e-5 SMART
TPR 360 393 1.07e-4 SMART
TPR 394 427 9.45e-6 SMART
TPR 428 461 3.29e-5 SMART
STI1 492 531 1.66e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000040772
SMART Domains Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965

DomainStartEndE-ValueType
Blast:B41 14 77 6e-32 BLAST
B41 94 556 1.66e-28 SMART
PH 350 455 2.26e-12 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] STIP1 is an adaptor protein that coordinates the functions of HSP70 (see HSPA1A; MIM 140550) and HSP90 (see HSP90AA1; MIM 140571) in protein folding. It is thought to assist in the transfer of proteins from HSP70 to HSP90 by binding both HSP90 and substrate-bound HSP70. STIP1 also stimulates the ATPase activity of HSP70 and inhibits the ATPase activity of HSP90, suggesting that it regulates both the conformations and ATPase cycles of these chaperones (Song and Masison, 2005 [PubMed 16100115]).[supplied by OMIM, Jul 2009]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality by E10.5, actute inflammation in the placental labyrinth, poorly formed neural tube and limb buds and increase double-strand breaks. Mice heterozygous for this allele exhibit susceptibility to ischemic brain injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,153,229 (GRCm39) D879G probably benign Het
Atp6v0d2 A T 4: 19,880,063 (GRCm39) F278Y possibly damaging Het
Cip2a A G 16: 48,826,096 (GRCm39) T388A possibly damaging Het
Dapk3 T C 10: 81,025,763 (GRCm39) probably benign Het
Dpysl4 A T 7: 138,676,651 (GRCm39) D367V probably damaging Het
E330034G19Rik T A 14: 24,348,052 (GRCm39) D101E possibly damaging Het
Epb41l1 G A 2: 156,378,933 (GRCm39) E811K probably damaging Het
Fsd1 T A 17: 56,303,303 (GRCm39) V424E probably null Het
Ggt5 G A 10: 75,425,604 (GRCm39) V21I probably benign Het
Gm5239 A G 18: 35,669,787 (GRCm39) E51G probably damaging Het
Gpr156 A G 16: 37,826,041 (GRCm39) S753G probably damaging Het
Grid1 A T 14: 35,174,302 (GRCm39) Y648F probably damaging Het
Hmgcr T C 13: 96,803,020 (GRCm39) probably benign Het
Insc A G 7: 114,368,243 (GRCm39) D11G probably damaging Het
Mmp9 A G 2: 164,790,876 (GRCm39) D88G probably damaging Het
Mtmr10 C T 7: 63,987,259 (GRCm39) R600W probably damaging Het
Nlrc3 C A 16: 3,767,323 (GRCm39) probably benign Het
Or5b116 T A 19: 13,422,472 (GRCm39) I32N probably damaging Het
Or8g51 T C 9: 38,609,087 (GRCm39) T196A probably benign Het
Pdcd11 A T 19: 47,113,516 (GRCm39) D1323V probably damaging Het
Rgl3 T C 9: 21,885,396 (GRCm39) R645G possibly damaging Het
Rnf2 A T 1: 151,347,446 (GRCm39) D137E probably benign Het
Smchd1 T C 17: 71,747,952 (GRCm39) H430R probably damaging Het
Sptb A G 12: 76,653,261 (GRCm39) V1534A possibly damaging Het
Tnfsf14 T C 17: 57,499,600 (GRCm39) D84G probably benign Het
Ube2o A G 11: 116,434,525 (GRCm39) V601A probably damaging Het
Vmn1r215 T C 13: 23,259,990 (GRCm39) I10T probably benign Het
Vtn A T 11: 78,392,480 (GRCm39) I353F probably damaging Het
Other mutations in Stip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Stip1 APN 19 6,998,464 (GRCm39) unclassified probably benign
IGL02506:Stip1 APN 19 7,012,857 (GRCm39) splice site probably benign
IGL03009:Stip1 APN 19 6,998,489 (GRCm39) missense probably damaging 1.00
Whisp UTSW 19 6,999,178 (GRCm39) missense possibly damaging 0.92
R1768:Stip1 UTSW 19 6,999,165 (GRCm39) missense probably damaging 1.00
R3081:Stip1 UTSW 19 7,013,016 (GRCm39) missense probably benign 0.42
R4530:Stip1 UTSW 19 7,013,026 (GRCm39) missense probably benign 0.04
R4965:Stip1 UTSW 19 7,012,938 (GRCm39) missense probably benign 0.41
R5638:Stip1 UTSW 19 7,009,883 (GRCm39) missense probably damaging 1.00
R5776:Stip1 UTSW 19 6,999,393 (GRCm39) critical splice donor site probably null
R5840:Stip1 UTSW 19 6,999,436 (GRCm39) missense possibly damaging 0.86
R7064:Stip1 UTSW 19 7,012,925 (GRCm39) missense probably benign 0.18
R7096:Stip1 UTSW 19 6,999,178 (GRCm39) missense possibly damaging 0.92
R7109:Stip1 UTSW 19 6,999,178 (GRCm39) missense possibly damaging 0.92
R7111:Stip1 UTSW 19 6,999,178 (GRCm39) missense possibly damaging 0.92
R7116:Stip1 UTSW 19 6,999,178 (GRCm39) missense possibly damaging 0.92
R7117:Stip1 UTSW 19 6,999,178 (GRCm39) missense possibly damaging 0.92
R7127:Stip1 UTSW 19 6,999,178 (GRCm39) missense possibly damaging 0.92
R7129:Stip1 UTSW 19 6,999,178 (GRCm39) missense possibly damaging 0.92
R7130:Stip1 UTSW 19 6,999,178 (GRCm39) missense possibly damaging 0.92
R7132:Stip1 UTSW 19 6,999,178 (GRCm39) missense possibly damaging 0.92
R7776:Stip1 UTSW 19 6,999,141 (GRCm39) missense probably benign 0.06
R8293:Stip1 UTSW 19 7,011,618 (GRCm39) missense probably benign
R8924:Stip1 UTSW 19 7,002,687 (GRCm39) missense probably damaging 1.00
Z1176:Stip1 UTSW 19 6,999,676 (GRCm39) missense probably null 1.00
Posted On 2015-04-16