Incidental Mutation 'R3940:Stim1'
ID 307411
Institutional Source Beutler Lab
Gene Symbol Stim1
Ensembl Gene ENSMUSG00000030987
Gene Name stromal interaction molecule 1
Synonyms SIM
MMRRC Submission 040922-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3940 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 101917013-102086526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102084848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 600 (N600S)
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: N600S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000033289
Gene: ENSMUSG00000030987
AA Change: N600S

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: N708S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210544
Predicted Effect probably benign
Transcript: ENSMUST00000211058
Predicted Effect probably benign
Transcript: ENSMUST00000211457
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 95% (35/37)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Acsm3 A G 7: 119,373,109 (GRCm39) E204G probably benign Het
Acta2 A T 19: 34,220,880 (GRCm39) I276N possibly damaging Het
Ankrd16 T C 2: 11,789,192 (GRCm39) C260R probably benign Het
Ankrd42 T C 7: 92,240,996 (GRCm39) probably null Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Calm5 A T 13: 3,904,485 (GRCm39) I37F possibly damaging Het
Casq1 A G 1: 172,047,103 (GRCm39) V52A possibly damaging Het
Col22a1 A T 15: 71,853,782 (GRCm39) L260* probably null Het
Cttnbp2 C A 6: 18,420,974 (GRCm39) V846L probably benign Het
Dnah12 A G 14: 26,444,754 (GRCm39) T627A probably benign Het
Eogt T C 6: 97,090,875 (GRCm39) I421M probably damaging Het
Fam135a T A 1: 24,096,556 (GRCm39) H63L probably damaging Het
Fmo3 T A 1: 162,791,555 (GRCm39) T241S probably benign Het
Frem3 T C 8: 81,341,649 (GRCm39) I1314T possibly damaging Het
Gm14393 T C 2: 174,903,420 (GRCm39) probably null Het
Kcna5 C T 6: 126,510,614 (GRCm39) V505I probably damaging Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Neto2 G A 8: 86,400,747 (GRCm39) T16I probably damaging Het
Or7a41 T A 10: 78,871,038 (GRCm39) I136N probably damaging Het
Or8k40 T A 2: 86,584,275 (GRCm39) D269V possibly damaging Het
Pcdhb7 T C 18: 37,477,021 (GRCm39) L719P probably damaging Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Pik3ip1 A G 11: 3,281,987 (GRCm39) N48S probably damaging Het
Pkn2 G A 3: 142,499,672 (GRCm39) S951L probably damaging Het
Prrc2a T C 17: 35,376,474 (GRCm39) H772R possibly damaging Het
Ric1 T C 19: 29,548,162 (GRCm39) Y277H probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf123 A T 9: 107,941,234 (GRCm39) probably benign Het
Robo1 T C 16: 72,806,631 (GRCm39) S1166P probably benign Het
S100a10 A G 3: 93,468,383 (GRCm39) E38G probably benign Het
Slc34a1 A T 13: 55,560,983 (GRCm39) I483F probably damaging Het
Ube3c T A 5: 29,824,358 (GRCm39) N517K probably benign 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
IGL01908:Stim1 APN 7 102,084,857 (GRCm39) missense 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
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
Predicted Primers PCR Primer
(F):5'- GCAGATGAAGCTCTCAATGCC -3'
(R):5'- TGCCTACTTCTTAAGAGGCTTC -3'

Sequencing Primer
(F):5'- AATGCCATGCCTTCCAATGG -3'
(R):5'- GAGTCTGTCTCCTCACCAATGGAAC -3'
Posted On 2015-04-17