Incidental Mutation 'R3838:Stim1'
ID 276992
Institutional Source Beutler Lab
Gene Symbol Stim1
Ensembl Gene ENSMUSG00000030987
Gene Name stromal interaction molecule 1
Synonyms SIM
MMRRC Submission 040779-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3838 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 101917013-102086526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102060503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 182 (T182I)
Ref Sequence ENSEMBL: ENSMUSP00000147443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033289] [ENSMUST00000209255] [ENSMUST00000211457]
AlphaFold P70302
Predicted Effect probably benign
Transcript: ENSMUST00000033289
AA Change: T182I

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033289
Gene: ENSMUSG00000030987
AA Change: T182I

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: T182I

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000211457
AA Change: T182I

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.8%
  • 20x: 96.4%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 60,993,041 (GRCm39) Y213H probably damaging Het
Alg8 C T 7: 97,037,752 (GRCm39) H379Y probably damaging Het
Arhgef25 T C 10: 127,025,605 (GRCm39) T12A probably benign Het
Arid4a A G 12: 71,122,559 (GRCm39) E980G possibly damaging Het
Aspm C T 1: 139,405,792 (GRCm39) H1560Y probably benign Het
Atg10 A T 13: 91,085,499 (GRCm39) I150K probably damaging Het
Bud13 A C 9: 46,201,490 (GRCm39) Q387P possibly damaging Het
Champ1 A G 8: 13,929,939 (GRCm39) Y699C probably damaging Het
Clstn1 A G 4: 149,722,790 (GRCm39) E476G probably damaging Het
Col2a1 T C 15: 97,886,857 (GRCm39) D345G unknown Het
Col2a1 A T 15: 97,898,462 (GRCm39) probably benign Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Dnajb2 G A 1: 75,218,124 (GRCm39) probably null Het
Dock4 G T 12: 40,844,623 (GRCm39) probably null Het
Epx A T 11: 87,765,656 (GRCm39) L101Q probably damaging Het
F13a1 A T 13: 37,231,398 (GRCm39) N21K probably damaging Het
Fam13c C T 10: 70,378,478 (GRCm39) S336L probably damaging Het
Foxj3 T A 4: 119,473,821 (GRCm39) H215Q possibly damaging Het
Gcnt4 A T 13: 97,083,522 (GRCm39) R273* probably null Het
Gpam T C 19: 55,068,890 (GRCm39) N450S probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmcn2 T C 2: 31,303,419 (GRCm39) L3020P probably damaging Het
Hmgcr A G 13: 96,795,597 (GRCm39) I324T probably benign Het
Ighmbp2 T C 19: 3,321,658 (GRCm39) Y367C probably benign Het
Lrrc14b A G 13: 74,511,664 (GRCm39) C139R possibly damaging Het
Lsamp A T 16: 41,954,675 (GRCm39) E174V possibly damaging Het
Mid1ip1 T C X: 10,584,620 (GRCm39) V51A possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msn C A X: 95,203,805 (GRCm39) Q303K probably damaging Het
Myh7b A G 2: 155,474,909 (GRCm39) K1816E probably damaging Het
Nap1l1 T A 10: 111,331,183 (GRCm39) probably null Het
Nme2 T A 11: 93,840,803 (GRCm39) E252D probably benign Het
Ntpcr G A 8: 126,464,111 (GRCm39) V79M probably damaging Het
Ogdh C T 11: 6,288,627 (GRCm39) R235* probably null Het
Or10d1 A G 9: 39,484,267 (GRCm39) V96A probably benign Het
Or10w1 A G 19: 13,632,321 (GRCm39) D176G probably benign Het
Or9k2 C A 10: 129,998,275 (GRCm39) E307* probably null Het
P3r3urf A G 4: 116,030,718 (GRCm39) T41A probably benign Het
Pcdh20 T C 14: 88,705,899 (GRCm39) N467S probably benign Het
Pkhd1 G A 1: 20,604,853 (GRCm39) T1154I possibly damaging Het
Polq G T 16: 36,898,711 (GRCm39) R2157I probably damaging Het
Reep6 C A 10: 80,171,723 (GRCm39) A533E probably damaging Het
Senp2 T C 16: 21,828,485 (GRCm39) S32P probably damaging Het
Septin11 T A 5: 93,296,258 (GRCm39) I52N probably damaging Het
Shld2 T C 14: 33,967,325 (GRCm39) D77G probably benign Het
Slc17a4 C T 13: 24,085,752 (GRCm39) R387H probably benign Het
Spdye4b C T 5: 143,178,084 (GRCm39) T11I probably benign Het
Srrt C T 5: 137,300,387 (GRCm39) probably null Het
Sspo T A 6: 48,457,754 (GRCm39) C3085S probably damaging Het
Thbs2 C A 17: 14,908,113 (GRCm39) V217L probably benign Het
Thpo G A 16: 20,547,498 (GRCm39) R38C probably damaging Het
Tmem210 A G 2: 25,178,444 (GRCm39) E35G possibly damaging Het
Trim12c T A 7: 103,990,075 (GRCm39) probably benign Het
Tvp23b A G 11: 62,774,455 (GRCm39) H33R possibly damaging Het
Usp14 A G 18: 10,024,532 (GRCm39) probably null Het
Vmn2r73 A G 7: 85,507,258 (GRCm39) W685R probably benign Het
Zfp618 G A 4: 63,051,801 (GRCm39) A861T probably benign Het
Zfp715 A G 7: 42,949,180 (GRCm39) V260A 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
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
Predicted Primers PCR Primer
(F):5'- AGACTGTGTTCTAGGGTACAGAGG -3'
(R):5'- CCTATAGGATCCAGCACAGC -3'

Sequencing Primer
(F):5'- TTCTAGGGTACAGAGGAGAGCAATC -3'
(R):5'- TCTTAATGCCAGTGGATAGTGAAG -3'
Posted On 2015-04-06