Incidental Mutation 'R2424:Stim1'
ID 249489
Institutional Source Beutler Lab
Gene Symbol Stim1
Ensembl Gene ENSMUSG00000030987
Gene Name stromal interaction molecule 1
Synonyms SIM
MMRRC Submission 040386-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2424 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 101917013-102086526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102057612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 142 (I142V)
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: I142V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000033289
Gene: ENSMUSG00000030987
AA Change: I142V

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 probably benign
Transcript: ENSMUST00000209255
AA Change: I142V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000211457
AA Change: I142V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Meta Mutation Damage Score 0.0728 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (64/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,590,159 (GRCm39) probably null Het
Acot3 G T 12: 84,100,638 (GRCm39) R138L probably damaging Het
Ago3 A G 4: 126,298,040 (GRCm39) V160A probably damaging Het
Akap9 A C 5: 4,115,279 (GRCm39) E166D probably damaging Het
Arid5a T C 1: 36,357,582 (GRCm39) Y136H probably damaging Het
Ascc3 T C 10: 50,494,297 (GRCm39) V244A probably benign Het
Atp10a A T 7: 58,444,303 (GRCm39) H560L probably benign Het
Btbd6 A G 12: 112,941,980 (GRCm39) T482A probably benign Het
Cacna1d A T 14: 29,770,980 (GRCm39) Y1828N probably damaging Het
Capzb A G 4: 138,921,441 (GRCm39) M1V probably null Het
Cdh9 T G 15: 16,850,440 (GRCm39) F524L probably damaging Het
Ctnna1 T C 18: 35,386,760 (GRCm39) S846P probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dock7 T A 4: 98,833,544 (GRCm39) R1886* probably null Het
Dpp3 A T 19: 4,957,735 (GRCm39) L711* probably null Het
Dst T A 1: 34,206,141 (GRCm39) I566N probably damaging Het
Eif2b3 T A 4: 116,928,045 (GRCm39) S421R probably benign Het
Epg5 T C 18: 78,011,828 (GRCm39) V825A probably benign Het
Eya1 T A 1: 14,341,072 (GRCm39) probably benign Het
Fam187a T C 11: 102,776,780 (GRCm39) Y195H probably damaging Het
Fbn2 C T 18: 58,336,859 (GRCm39) C132Y probably damaging Het
Fbxw21 A T 9: 108,986,587 (GRCm39) Y97* probably null Het
Grin1 A T 2: 25,208,664 (GRCm39) C79S probably null Het
Haao T A 17: 84,142,991 (GRCm39) Y118F probably damaging Het
Il11ra1 T A 4: 41,768,222 (GRCm39) S378T probably damaging Het
Kcnj5 A T 9: 32,234,116 (GRCm39) N66K probably damaging Het
Kif21a T A 15: 90,855,399 (GRCm39) N668I probably damaging Het
Kprp A T 3: 92,732,912 (GRCm39) L46Q probably damaging Het
Lama1 C T 17: 68,105,660 (GRCm39) T2056I probably benign Het
Madd G C 2: 90,996,967 (GRCm39) D824E probably damaging Het
Mapk9 A G 11: 49,754,499 (GRCm39) N84S probably damaging Het
Mrpl39 A G 16: 84,527,748 (GRCm39) V160A probably benign Het
Mrpl9 T C 3: 94,351,113 (GRCm39) S98P probably benign Het
Mybpc3 A T 2: 90,966,138 (GRCm39) M1233L probably benign Het
Neb A G 2: 52,099,671 (GRCm39) probably benign Het
Ngly1 A G 14: 16,290,721 (GRCm38) probably null Het
Nt5c1b A T 12: 10,420,072 (GRCm39) T4S probably damaging Het
Obscn T C 11: 58,885,277 (GRCm39) probably benign Het
Or2h2c T C 17: 37,422,408 (GRCm39) I155M probably benign Het
Or4k15b T C 14: 50,272,281 (GRCm39) Y193C probably damaging Het
Or8b1b T C 9: 38,376,128 (GRCm39) S264P probably damaging Het
Or8g53 A G 9: 39,683,593 (GRCm39) F168L probably benign Het
Otog A T 7: 45,947,593 (GRCm39) K64* probably null Het
Papola A G 12: 105,793,311 (GRCm39) T544A probably benign Het
Phc1 A G 6: 122,297,002 (GRCm39) V790A probably damaging Het
Phf3 G T 1: 30,845,430 (GRCm39) R1252S probably damaging Het
Phf8-ps T C 17: 33,284,730 (GRCm39) T691A probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Rgs17 T A 10: 5,783,111 (GRCm39) I159F probably damaging Het
Rgs17 T A 10: 5,792,560 (GRCm39) E62V probably benign Het
Rnase1 A G 14: 51,383,004 (GRCm39) Y117H possibly damaging Het
Rnf214 T C 9: 45,811,096 (GRCm39) D189G probably damaging Het
Sema4b A G 7: 79,869,023 (GRCm39) N365S probably damaging Het
Setd2 A G 9: 110,446,590 (GRCm39) H2480R probably benign Het
Slc27a6 G T 18: 58,738,189 (GRCm39) C415F probably benign Het
Supt5 T C 7: 28,014,590 (GRCm39) I1070V possibly damaging Het
Tbp T C 17: 15,733,795 (GRCm39) F174L possibly damaging Het
Tex26 A G 5: 149,393,913 (GRCm39) probably benign Het
Tmem132d A G 5: 127,941,663 (GRCm39) V479A probably benign Het
Ttn T C 2: 76,711,489 (GRCm39) probably benign Het
Urb2 T A 8: 124,757,165 (GRCm39) N957K probably benign Het
Usp24 T C 4: 106,256,310 (GRCm39) probably null Het
Vmn2r114 T C 17: 23,515,842 (GRCm39) T550A possibly damaging Het
Vmn2r72 A G 7: 85,400,161 (GRCm39) V296A probably damaging Het
Vmn2r91 C A 17: 18,356,431 (GRCm39) Y699* probably null 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
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
Predicted Primers PCR Primer
(F):5'- AACATGACAAGTGCGTGTTC -3'
(R):5'- ACAGACTCTGCTGAGGATGAAG -3'

Sequencing Primer
(F):5'- ACAAGTGCGTGTTCAGCATG -3'
(R):5'- AGACTCTGCTGAGGATGAAGCTTTAC -3'
Posted On 2014-11-12