Incidental Mutation 'IGL01908:Stim1'
ID 179730
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stim1
Ensembl Gene ENSMUSG00000030987
Gene Name stromal interaction molecule 1
Synonyms SIM
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01908
Quality Score
Status
Chromosome 7
Chromosomal Location 101917013-102086526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102084857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 603 (V603A)
Ref Sequence ENSEMBL: ENSMUSP00000033289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033289] [ENSMUST00000209255] [ENSMUST00000211457]
AlphaFold P70302
Predicted Effect probably benign
Transcript: ENSMUST00000033289
AA Change: V603A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033289
Gene: ENSMUSG00000030987
AA Change: V603A

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 unknown
Transcript: ENSMUST00000209255
AA Change: V711A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210544
Predicted Effect probably benign
Transcript: ENSMUST00000211058
Predicted Effect probably benign
Transcript: ENSMUST00000211457
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1 G T 6: 48,883,690 (GRCm39) R522L probably damaging Het
Asic5 G T 3: 81,913,877 (GRCm39) G184* probably null Het
Bcr T A 10: 74,897,705 (GRCm39) I283N possibly damaging Het
Bscl2 A G 19: 8,822,640 (GRCm39) T134A probably damaging Het
Clip1 A G 5: 123,761,270 (GRCm39) probably benign Het
Clnk T A 5: 38,870,485 (GRCm39) N358Y probably damaging Het
Crnkl1 A T 2: 145,770,075 (GRCm39) V256E probably benign Het
Ctsm A T 13: 61,685,601 (GRCm39) S270R probably benign Het
Dhx57 G T 17: 80,558,872 (GRCm39) P1029H probably damaging Het
Dock3 A G 9: 106,783,861 (GRCm39) M277T possibly damaging Het
Fbxo11 T C 17: 88,299,728 (GRCm39) K874R probably benign Het
Fyco1 A T 9: 123,658,295 (GRCm39) L627Q probably damaging Het
Ghr A T 15: 3,349,929 (GRCm39) C416* probably null Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Kif13b T C 14: 64,995,007 (GRCm39) C920R probably damaging Het
Lrp1b T C 2: 40,592,816 (GRCm39) T3768A probably benign Het
Luzp2 T G 7: 54,821,944 (GRCm39) S154A probably damaging Het
Or52p1 A T 7: 104,266,906 (GRCm39) T7S probably damaging Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,508,592 (GRCm39) V838D probably damaging Het
Sbf1 A T 15: 89,186,929 (GRCm39) D816E probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Tinagl1 G T 4: 130,061,223 (GRCm39) T309K probably damaging Het
Trappc11 G A 8: 47,957,029 (GRCm39) A799V probably damaging Het
Vmn1r113 T C 7: 20,521,943 (GRCm39) L245P probably damaging Het
Vmn1r40 T G 6: 89,691,291 (GRCm39) V36G probably damaging Het
Vmn1r40 C T 6: 89,691,285 (GRCm39) A34V probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in Stim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Stim1 APN 7 102,075,954 (GRCm39) missense probably damaging 1.00
IGL01390:Stim1 APN 7 102,076,369 (GRCm39) missense possibly damaging 0.73
IGL01602:Stim1 APN 7 102,035,322 (GRCm39) missense possibly damaging 0.86
IGL01605:Stim1 APN 7 102,035,322 (GRCm39) missense possibly damaging 0.86
IGL01697:Stim1 APN 7 102,075,176 (GRCm39) splice site probably benign
IGL01826:Stim1 APN 7 102,076,282 (GRCm39) splice site probably benign
IGL02869:Stim1 APN 7 101,917,758 (GRCm39) missense unknown
IGL03146:Stim1 APN 7 102,070,562 (GRCm39) missense probably damaging 1.00
R0217:Stim1 UTSW 7 102,085,007 (GRCm39) missense probably benign 0.00
R1320:Stim1 UTSW 7 102,057,613 (GRCm39) missense possibly damaging 0.79
R1639:Stim1 UTSW 7 102,003,748 (GRCm39) missense probably benign 0.31
R1643:Stim1 UTSW 7 102,035,307 (GRCm39) missense possibly damaging 0.92
R1697:Stim1 UTSW 7 102,003,713 (GRCm39) missense probably damaging 1.00
R2424:Stim1 UTSW 7 102,057,612 (GRCm39) missense probably benign 0.03
R3838:Stim1 UTSW 7 102,060,503 (GRCm39) missense possibly damaging 0.71
R3940:Stim1 UTSW 7 102,084,848 (GRCm39) missense probably benign 0.00
R4820:Stim1 UTSW 7 102,064,571 (GRCm39) missense probably damaging 0.97
R4871:Stim1 UTSW 7 102,003,779 (GRCm39) missense probably damaging 1.00
R5110:Stim1 UTSW 7 101,917,629 (GRCm39) missense unknown
R5787:Stim1 UTSW 7 102,084,647 (GRCm39) missense possibly damaging 0.52
R6400:Stim1 UTSW 7 102,080,157 (GRCm39) missense probably null 0.99
R6788:Stim1 UTSW 7 102,076,498 (GRCm39) missense probably damaging 0.99
R7112:Stim1 UTSW 7 102,057,615 (GRCm39) missense probably benign 0.01
R7125:Stim1 UTSW 7 102,084,741 (GRCm39) missense possibly damaging 0.69
R7247:Stim1 UTSW 7 102,070,739 (GRCm39) critical splice donor site probably null
R7650:Stim1 UTSW 7 102,078,034 (GRCm39) missense
R7807:Stim1 UTSW 7 102,076,348 (GRCm39) missense probably damaging 0.99
R8304:Stim1 UTSW 7 102,084,688 (GRCm39) missense possibly damaging 0.55
R8462:Stim1 UTSW 7 102,076,324 (GRCm39) missense probably damaging 1.00
R8528:Stim1 UTSW 7 102,080,289 (GRCm39) intron probably benign
R8883:Stim1 UTSW 7 102,080,257 (GRCm39) missense unknown
R8921:Stim1 UTSW 7 102,070,597 (GRCm39) missense probably damaging 0.99
R8924:Stim1 UTSW 7 102,078,014 (GRCm39) missense
R9018:Stim1 UTSW 7 102,060,482 (GRCm39) missense probably benign 0.05
R9164:Stim1 UTSW 7 102,084,626 (GRCm39) missense probably benign 0.35
R9396:Stim1 UTSW 7 102,064,592 (GRCm39) missense possibly damaging 0.63
R9487:Stim1 UTSW 7 102,080,257 (GRCm39) missense unknown
R9501:Stim1 UTSW 7 102,060,506 (GRCm39) missense possibly damaging 0.92
R9697:Stim1 UTSW 7 102,078,014 (GRCm39) missense
R9710:Stim1 UTSW 7 102,080,118 (GRCm39) small deletion probably benign
R9734:Stim1 UTSW 7 102,064,560 (GRCm39) missense possibly damaging 0.56
Posted On 2014-05-07