Incidental Mutation 'IGL01390:Stim1'
ID79168
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stim1
Ensembl Gene ENSMUSG00000030987
Gene Namestromal interaction molecule 1
SynonymsSIM
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01390
Quality Score
Status
Chromosome7
Chromosomal Location102267806-102437319 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102427162 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 440 (Q440R)
Ref Sequence ENSEMBL: ENSMUSP00000147443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033289] [ENSMUST00000209255] [ENSMUST00000211457]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033289
AA Change: Q440R

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000033289
Gene: ENSMUSG00000030987
AA Change: Q440R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 32 47 N/A INTRINSIC
SAM 129 200 5.51e-6 SMART
SCOP:d1eq1a_ 229 334 1e-2 SMART
PDB:4O9B|D 237 340 3e-59 PDB
Pfam:SOAR 341 441 1.4e-46 PFAM
low complexity region 485 499 N/A INTRINSIC
low complexity region 601 631 N/A INTRINSIC
low complexity region 672 685 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000209255
AA Change: Q440R

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210834
Predicted Effect unknown
Transcript: ENSMUST00000211058
AA Change: Q109R
Predicted Effect probably benign
Transcript: ENSMUST00000211457
AA Change: Q440R

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
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 type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit perinatal and postnatal lethality, with all mice dying by 2 weeks of age, and severe growth retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v0a1 A G 11: 101,043,802 K565R probably benign Het
Cacna2d3 T C 14: 28,943,591 T158A possibly damaging Het
Ccdc129 C T 6: 55,897,998 P311L probably benign Het
Dnah5 A G 15: 28,411,540 D3685G probably benign Het
Dock1 T C 7: 134,745,047 I236T possibly damaging Het
Dock6 A G 9: 21,803,045 V1803A probably damaging Het
Epb41 T C 4: 132,003,737 I178V probably benign Het
Gm10110 C A 14: 89,898,241 noncoding transcript Het
Hist1h2ac T C 13: 23,683,516 probably benign Het
Hoxb7 A C 11: 96,287,011 N95T probably benign Het
Ikzf2 C A 1: 69,570,642 C116F probably damaging Het
Ints8 A T 4: 11,218,679 probably benign Het
Man2a1 T C 17: 64,710,705 Y649H probably benign Het
Mcm8 T C 2: 132,838,078 probably benign Het
Msi1 T A 5: 115,438,721 D137E possibly damaging Het
Olfr1037 T C 2: 86,085,640 I46V probably benign Het
Pde6c A G 19: 38,161,928 Y507C probably benign Het
Prl7d1 A G 13: 27,710,166 V140A possibly damaging Het
Rb1 T A 14: 73,294,999 I132F probably benign Het
Rgl1 A G 1: 152,571,588 probably benign Het
Rpl18a G T 8: 70,895,510 probably benign Het
Sf3b1 T C 1: 54,987,429 I1274V probably benign Het
Slc9a3 A C 13: 74,150,761 I100L probably benign Het
Sorcs3 T A 19: 48,790,131 Y996N probably damaging Het
Sra1 A G 18: 36,670,081 L37P probably damaging Het
Tacc3 C T 5: 33,668,061 probably benign Het
Tas2r104 T A 6: 131,685,485 Y87F probably benign Het
Tbl2 T C 5: 135,156,363 probably benign Het
Vsig10l C T 7: 43,466,465 S410F probably damaging Het
Other mutations in Stim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Stim1 APN 7 102426747 missense probably damaging 1.00
IGL01602:Stim1 APN 7 102386115 missense possibly damaging 0.86
IGL01605:Stim1 APN 7 102386115 missense possibly damaging 0.86
IGL01697:Stim1 APN 7 102425969 splice site probably benign
IGL01826:Stim1 APN 7 102427075 splice site probably benign
IGL01908:Stim1 APN 7 102435650 missense probably benign
IGL02869:Stim1 APN 7 102268551 missense unknown
IGL03146:Stim1 APN 7 102421355 missense probably damaging 1.00
R0217:Stim1 UTSW 7 102435800 missense probably benign 0.00
R1320:Stim1 UTSW 7 102408406 missense possibly damaging 0.79
R1639:Stim1 UTSW 7 102354541 missense probably benign 0.31
R1643:Stim1 UTSW 7 102386100 missense possibly damaging 0.92
R1697:Stim1 UTSW 7 102354506 missense probably damaging 1.00
R2424:Stim1 UTSW 7 102408405 missense probably benign 0.03
R3838:Stim1 UTSW 7 102411296 missense possibly damaging 0.71
R3940:Stim1 UTSW 7 102435641 missense probably benign 0.00
R4820:Stim1 UTSW 7 102415364 missense probably damaging 0.97
R4871:Stim1 UTSW 7 102354572 missense probably damaging 1.00
R5110:Stim1 UTSW 7 102268422 missense unknown
R5787:Stim1 UTSW 7 102435440 missense possibly damaging 0.52
R6400:Stim1 UTSW 7 102430950 missense probably null 0.99
R6788:Stim1 UTSW 7 102427291 missense probably damaging 0.99
R7112:Stim1 UTSW 7 102408408 missense probably benign 0.01
R7125:Stim1 UTSW 7 102435534 missense possibly damaging 0.69
R7247:Stim1 UTSW 7 102421532 critical splice donor site probably null
R7650:Stim1 UTSW 7 102428827 missense
R7807:Stim1 UTSW 7 102427141 missense probably damaging 0.99
R8304:Stim1 UTSW 7 102435481 missense possibly damaging 0.55
Posted On2013-11-05