Incidental Mutation 'IGL02506:Stip1'
ID296362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stip1
Ensembl Gene ENSMUSG00000024966
Gene Namestress-induced phosphoprotein 1
SynonymsHop, IEF SSP 3521, Hsp70/Hsp90 organizing protein, STI1, p60
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02506
Quality Score
Status
Chromosome19
Chromosomal Location7020696-7040026 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 7035489 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025918]
Predicted Effect probably benign
Transcript: ENSMUST00000025918
SMART Domains Protein: ENSMUSP00000025918
Gene: ENSMUSG00000024966

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
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,692,488 E189G possibly damaging Het
Acad11 T C 9: 104,091,732 probably null Het
Adcy7 G T 8: 88,317,943 R488L probably damaging Het
Akt1 C T 12: 112,659,280 probably benign Het
Ano9 C T 7: 141,102,254 probably benign Het
Arhgap15 A G 2: 44,063,808 D182G possibly damaging Het
Asxl3 T A 18: 22,452,399 V127D probably benign Het
Cacna1g A G 11: 94,429,129 M1407T probably damaging Het
Card9 A C 2: 26,354,415 probably benign Het
Cdh5 A G 8: 104,137,822 N472D probably damaging Het
Ceacam2 T A 7: 25,527,954 T343S probably benign Het
Cic T A 7: 25,290,857 C1928S probably benign Het
Clk3 C T 9: 57,754,644 W31* probably null Het
Cntn4 A G 6: 106,618,388 T489A probably benign Het
Crispld1 G A 1: 17,756,305 R431H probably damaging Het
Crmp1 T A 5: 37,278,855 probably benign Het
Cyld A G 8: 88,729,590 T423A possibly damaging Het
Cyp3a44 A T 5: 145,799,388 I84N probably damaging Het
D2hgdh A G 1: 93,829,785 N141D probably damaging Het
Dip2b T A 15: 100,157,281 L341Q probably damaging Het
F3 C T 3: 121,731,674 T53I possibly damaging Het
Fam227b T A 2: 126,003,911 Y386F probably benign Het
Fmn1 A T 2: 113,525,295 T694S unknown Het
Gcnt2 T A 13: 40,887,380 V5E probably benign Het
Herpud1 G T 8: 94,394,642 E355* probably null Het
Igf1r T C 7: 68,193,396 S752P probably benign Het
Iqsec1 T C 6: 90,672,075 I687V possibly damaging Het
Kdm5a T C 6: 120,432,149 S1598P probably damaging Het
Klk9 A G 7: 43,795,639 E185G probably benign Het
Myo16 G T 8: 10,390,217 R423L probably damaging Het
Myo7b T C 18: 31,967,154 E1609G probably damaging Het
Nom1 T A 5: 29,439,816 probably benign Het
Nomo1 A G 7: 46,078,056 I1040V possibly damaging Het
Olfr887 G A 9: 38,085,445 G203D probably damaging Het
Paqr9 T C 9: 95,560,695 V246A probably benign Het
Pfkfb4 A T 9: 109,030,336 D437V probably benign Het
Phldb1 G T 9: 44,710,926 D797E probably benign Het
Pkd1l3 A G 8: 109,647,500 E1399G probably damaging Het
Plekhs1 G A 19: 56,471,766 C97Y probably damaging Het
Plscr4 A T 9: 92,489,991 I272L possibly damaging Het
Prlhr A C 19: 60,467,928 Y67D probably damaging Het
Rab3gap2 A G 1: 185,252,024 probably benign Het
Rad23b T C 4: 55,382,511 V238A probably benign Het
Sel1l2 T C 2: 140,275,460 T164A possibly damaging Het
Serpinh1 T A 7: 99,346,992 K295M probably damaging Het
Slc45a4 T C 15: 73,581,838 E770G probably benign Het
Spag4 T C 2: 156,069,222 L390P probably damaging Het
Tacr1 A G 6: 82,403,758 N50S probably damaging Het
Tg T C 15: 66,741,594 V433A possibly damaging Het
Ubap1l T A 9: 65,369,211 probably benign Het
Usp40 A T 1: 87,982,016 I572K probably damaging Het
Vps13b G T 15: 35,917,162 E3717D probably damaging Het
Wdr81 T C 11: 75,444,406 N1778S probably benign Het
Ylpm1 T A 12: 85,049,191 F1162Y probably damaging Het
Zbtb10 T A 3: 9,265,237 F552I probably damaging Het
Zfp507 T C 7: 35,776,466 I811V probably damaging Het
Zfp663 A T 2: 165,353,951 V116D probably benign Het
Other mutations in Stip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Stip1 APN 19 7021096 unclassified probably benign
IGL02515:Stip1 APN 19 7022119 missense probably benign 0.23
IGL03009:Stip1 APN 19 7021121 missense probably damaging 1.00
Whisp UTSW 19 7021810 missense possibly damaging 0.92
R1768:Stip1 UTSW 19 7021797 missense probably damaging 1.00
R3081:Stip1 UTSW 19 7035648 missense probably benign 0.42
R4530:Stip1 UTSW 19 7035658 missense probably benign 0.04
R4965:Stip1 UTSW 19 7035570 missense probably benign 0.41
R5638:Stip1 UTSW 19 7032515 missense probably damaging 1.00
R5776:Stip1 UTSW 19 7022025 critical splice donor site probably null
R5840:Stip1 UTSW 19 7022068 missense possibly damaging 0.86
R7064:Stip1 UTSW 19 7035557 missense probably benign 0.18
R7096:Stip1 UTSW 19 7021810 missense possibly damaging 0.92
R7109:Stip1 UTSW 19 7021810 missense possibly damaging 0.92
R7111:Stip1 UTSW 19 7021810 missense possibly damaging 0.92
R7116:Stip1 UTSW 19 7021810 missense possibly damaging 0.92
R7117:Stip1 UTSW 19 7021810 missense possibly damaging 0.92
R7127:Stip1 UTSW 19 7021810 missense possibly damaging 0.92
R7129:Stip1 UTSW 19 7021810 missense possibly damaging 0.92
R7130:Stip1 UTSW 19 7021810 missense possibly damaging 0.92
R7132:Stip1 UTSW 19 7021810 missense possibly damaging 0.92
R7776:Stip1 UTSW 19 7021773 missense probably benign 0.06
R8293:Stip1 UTSW 19 7034250 missense probably benign
Z1176:Stip1 UTSW 19 7022308 missense probably null 1.00
Posted On2015-04-16