Incidental Mutation 'IGL01697:Stim1'
ID 104323
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 # IGL01697
Quality Score
Chromosome 7
Chromosomal Location 102267806-102437319 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 102425969 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033289] [ENSMUST00000209255] [ENSMUST00000211457]
AlphaFold P70302
Predicted Effect probably benign
Transcript: ENSMUST00000033289
SMART Domains Protein: ENSMUSP00000033289
Gene: ENSMUSG00000030987

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 probably benign
Transcript: ENSMUST00000209255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210834
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
9430015G10Rik T A 4: 156,119,156 (GRCm38) probably benign Het
Arid2 A C 15: 96,361,572 (GRCm38) probably null Het
Cadm1 C A 9: 47,850,324 (GRCm38) D435E probably damaging Het
Dagla A G 19: 10,271,198 (GRCm38) F33L probably benign Het
Edrf1 A G 7: 133,643,730 (GRCm38) H199R probably benign Het
F5 T A 1: 164,194,052 (GRCm38) N1365K probably benign Het
Fam205c T A 4: 42,874,163 (GRCm38) M2L probably benign Het
Gipc2 T G 3: 152,137,608 (GRCm38) I131L probably benign Het
Gpc1 C T 1: 92,858,410 (GRCm38) S507F possibly damaging Het
Grid1 A G 14: 35,309,257 (GRCm38) D269G probably benign Het
Ighv12-3 A T 12: 114,366,953 (GRCm38) M1K probably null Het
Kif5b T C 18: 6,226,871 (GRCm38) H129R possibly damaging Het
Lipo3 A T 19: 33,559,565 (GRCm38) C252S probably damaging Het
Mast4 A C 13: 102,767,893 (GRCm38) N645K probably damaging Het
Megf9 T A 4: 70,433,472 (GRCm38) T471S possibly damaging Het
Mmrn1 A G 6: 60,976,493 (GRCm38) D586G possibly damaging Het
Ninl A T 2: 150,939,947 (GRCm38) L1206Q probably damaging Het
Olfr1446 T A 19: 12,890,467 (GRCm38) T37S probably benign Het
Olfr45 T C 7: 140,691,652 (GRCm38) V249A possibly damaging Het
Olfr765 C A 10: 129,046,502 (GRCm38) C187F probably damaging Het
Oog2 T A 4: 144,195,184 (GRCm38) N221K possibly damaging Het
Pik3ap1 G A 19: 41,324,579 (GRCm38) A365V probably damaging Het
Ppwd1 T C 13: 104,220,464 (GRCm38) E181G probably benign Het
Scaf11 A C 15: 96,423,623 (GRCm38) probably benign Het
Skint7 T A 4: 111,980,457 (GRCm38) probably benign Het
Sox14 T C 9: 99,875,663 (GRCm38) I8V probably benign Het
Ttc37 C T 13: 76,128,733 (GRCm38) L479F probably benign Het
Ttll3 T C 6: 113,399,729 (GRCm38) S357P probably benign Het
Vmn1r178 T A 7: 23,893,689 (GRCm38) I54N probably damaging Het
Zdhhc2 T C 8: 40,467,419 (GRCm38) probably benign Het
Other mutations in Stim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Stim1 APN 7 102,426,747 (GRCm38) missense probably damaging 1.00
IGL01390:Stim1 APN 7 102,427,162 (GRCm38) missense possibly damaging 0.73
IGL01602:Stim1 APN 7 102,386,115 (GRCm38) missense possibly damaging 0.86
IGL01605:Stim1 APN 7 102,386,115 (GRCm38) missense possibly damaging 0.86
IGL01826:Stim1 APN 7 102,427,075 (GRCm38) splice site probably benign
IGL01908:Stim1 APN 7 102,435,650 (GRCm38) missense probably benign
IGL02869:Stim1 APN 7 102,268,551 (GRCm38) missense unknown
IGL03146:Stim1 APN 7 102,421,355 (GRCm38) missense probably damaging 1.00
R0217:Stim1 UTSW 7 102,435,800 (GRCm38) missense probably benign 0.00
R1320:Stim1 UTSW 7 102,408,406 (GRCm38) missense possibly damaging 0.79
R1639:Stim1 UTSW 7 102,354,541 (GRCm38) missense probably benign 0.31
R1643:Stim1 UTSW 7 102,386,100 (GRCm38) missense possibly damaging 0.92
R1697:Stim1 UTSW 7 102,354,506 (GRCm38) missense probably damaging 1.00
R2424:Stim1 UTSW 7 102,408,405 (GRCm38) missense probably benign 0.03
R3838:Stim1 UTSW 7 102,411,296 (GRCm38) missense possibly damaging 0.71
R3940:Stim1 UTSW 7 102,435,641 (GRCm38) missense probably benign 0.00
R4820:Stim1 UTSW 7 102,415,364 (GRCm38) missense probably damaging 0.97
R4871:Stim1 UTSW 7 102,354,572 (GRCm38) missense probably damaging 1.00
R5110:Stim1 UTSW 7 102,268,422 (GRCm38) missense unknown
R5787:Stim1 UTSW 7 102,435,440 (GRCm38) missense possibly damaging 0.52
R6400:Stim1 UTSW 7 102,430,950 (GRCm38) missense probably null 0.99
R6788:Stim1 UTSW 7 102,427,291 (GRCm38) missense probably damaging 0.99
R7112:Stim1 UTSW 7 102,408,408 (GRCm38) missense probably benign 0.01
R7125:Stim1 UTSW 7 102,435,534 (GRCm38) missense possibly damaging 0.69
R7247:Stim1 UTSW 7 102,421,532 (GRCm38) critical splice donor site probably null
R7650:Stim1 UTSW 7 102,428,827 (GRCm38) missense
R7807:Stim1 UTSW 7 102,427,141 (GRCm38) missense probably damaging 0.99
R8304:Stim1 UTSW 7 102,435,481 (GRCm38) missense possibly damaging 0.55
R8462:Stim1 UTSW 7 102,427,117 (GRCm38) missense probably damaging 1.00
R8528:Stim1 UTSW 7 102,431,082 (GRCm38) intron probably benign
R8883:Stim1 UTSW 7 102,431,050 (GRCm38) missense unknown
R8921:Stim1 UTSW 7 102,421,390 (GRCm38) missense probably damaging 0.99
R8924:Stim1 UTSW 7 102,428,807 (GRCm38) missense
R9018:Stim1 UTSW 7 102,411,275 (GRCm38) missense probably benign 0.05
R9164:Stim1 UTSW 7 102,435,419 (GRCm38) missense probably benign 0.35
R9396:Stim1 UTSW 7 102,415,385 (GRCm38) missense possibly damaging 0.63
R9487:Stim1 UTSW 7 102,431,050 (GRCm38) missense unknown
R9501:Stim1 UTSW 7 102,411,299 (GRCm38) missense possibly damaging 0.92
R9697:Stim1 UTSW 7 102,428,807 (GRCm38) missense
R9710:Stim1 UTSW 7 102,430,911 (GRCm38) small deletion probably benign
R9734:Stim1 UTSW 7 102,415,353 (GRCm38) missense possibly damaging 0.56
Posted On 2014-01-21