Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02869:Stim1'

362472

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 #

IGL02869

Quality Score

Status

Chromosome

Chromosomal Location

102267806-102437319 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102268551 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 46 (A46E)

Ref Sequence

ENSEMBL: ENSMUSP00000147410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033289] [ENSMUST00000209255] [ENSMUST00000211457]

AlphaFold

P70302

Predicted Effect

unknown
Transcript: ENSMUST00000033289
AA Change: A46E

SMART Domains

Protein: ENSMUSP00000033289
Gene: ENSMUSG00000030987
AA Change: A46E

Domain	Start	End	E-Value	Type
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: A46E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211141

Predicted Effect

unknown
Transcript: ENSMUST00000211457
AA Change: A46E

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,867,459	S1142T	possibly damaging	Het
5330417C22Rik	A	G	3: 108,472,866	I309T	probably benign	Het
Actr3b	T	G	5: 25,832,435	V215G	probably damaging	Het
Adam9	C	T	8: 24,970,618	V617M	probably damaging	Het
Adgrl2	G	T	3: 148,890,605	P32T	probably damaging	Het
Ago3	A	T	4: 126,367,787		probably benign	Het
Allc	A	C	12: 28,573,207	I20M	probably benign	Het
Asic3	G	A	5: 24,416,974	W361*	probably null	Het
Atf7ip	A	G	6: 136,606,579	K1203E	probably damaging	Het
Babam2	C	A	5: 32,004,772	H272Q	possibly damaging	Het
Baz2b	G	A	2: 59,977,528	T129I	probably benign	Het
C130073F10Rik	A	T	4: 101,890,393	Y146*	probably null	Het
C530008M17Rik	A	G	5: 76,859,043	K1084E	unknown	Het
Cd247	A	G	1: 165,857,417	E74G	probably damaging	Het
Cdh17	A	T	4: 11,814,908	Q778L	probably benign	Het
Ceacam1	T	C	7: 25,476,541	D76G	probably benign	Het
Cela3a	T	C	4: 137,403,834	K198E	probably benign	Het
Ces2a	T	A	8: 104,739,059	D281E	probably damaging	Het
Cetn2	A	T	X: 72,914,921	D116E	probably damaging	Het
Ctu2	G	T	8: 122,478,791		probably null	Het
Cybb	T	C	X: 9,442,589	N469D	probably benign	Het
Cygb	C	T	11: 116,649,923	R79Q	probably damaging	Het
Cyp2d10	C	T	15: 82,403,868	V186M	possibly damaging	Het
Defb29	T	A	2: 152,539,022		probably null	Het
Depdc7	T	G	2: 104,730,349	Q100P	probably damaging	Het
Dhx30	A	C	9: 110,097,183	I91R	probably damaging	Het
Dnm1l	T	A	16: 16,341,424	K105*	probably null	Het
Efhc1	T	C	1: 20,967,343	I248T	probably damaging	Het
Entpd2	A	G	2: 25,398,108	T115A	probably damaging	Het
Epb42	G	T	2: 121,025,746	A439E	probably benign	Het
Epp13	T	C	7: 6,269,899		probably benign	Het
Esm1	T	G	13: 113,210,084	L81R	probably damaging	Het
F8	T	C	X: 75,287,381	S968G	probably benign	Het
Fam234b	T	G	6: 135,225,203	Y308D	probably damaging	Het
Fbxo46	T	G	7: 19,137,214	V586G	probably damaging	Het
Foxp1	C	A	6: 98,930,083		probably benign	Het
Gm10754	A	T	10: 97,682,274		probably benign	Het
Gm12355	T	A	11: 98,625,320	R76*	probably null	Het
Gm12695	A	C	4: 96,762,133		probably benign	Het
Gm438	T	C	4: 144,786,368	I54V	probably benign	Het
Gm5468	T	C	15: 25,414,640		probably benign	Het
Grhl1	T	C	12: 24,581,491	S66P	probably damaging	Het
Gstt3	A	T	10: 75,776,742		probably null	Het
Gtf2i	A	G	5: 134,279,427		probably benign	Het
Gzmk	C	A	13: 113,172,026	G175C	probably damaging	Het
Helz2	T	C	2: 181,231,146		probably benign	Het
Ift20	T	C	11: 78,539,954		probably benign	Het
Intu	A	G	3: 40,687,786	D491G	probably damaging	Het
Itch	G	T	2: 155,173,933		probably null	Het
Itgb5	A	G	16: 33,844,992	N26S	possibly damaging	Het
Lama2	A	T	10: 27,015,538	S2526R	probably damaging	Het
Lat2	A	G	5: 134,608,173	I40T	probably damaging	Het
Lipa	T	A	19: 34,493,997	M393L	probably benign	Het
Lipa	G	T	19: 34,493,971		probably benign	Het
Lpcat1	T	A	13: 73,484,298	L10H	probably damaging	Het
Lpcat3	T	C	6: 124,703,007	Y348H	possibly damaging	Het
Lrp1b	A	T	2: 40,701,830	N50K	unknown	Het
Lrrk2	T	A	15: 91,750,277	Y1415N	probably damaging	Het
Lsamp	A	T	16: 42,144,715	T312S	probably benign	Het
Man2a2	T	C	7: 80,363,941	E454G	probably benign	Het
Mcm3	T	C	1: 20,808,839	K570R	probably damaging	Het
Mctp2	C	A	7: 72,228,471		probably null	Het
Msantd2	T	G	9: 37,523,500	C345W	probably damaging	Het
Musk	T	C	4: 58,354,078	I362T	probably benign	Het
Myh15	A	T	16: 49,145,404	N1224I	probably benign	Het
Myo18a	A	G	11: 77,864,786	Y1983C	probably damaging	Het
Myo18a	C	T	11: 77,829,873		probably benign	Het
Myrfl	G	T	10: 116,829,004	Q374K	probably damaging	Het
Ndrg1	T	A	15: 66,946,497	Q87H	probably benign	Het
Nol9	G	A	4: 152,046,573	C351Y	probably damaging	Het
Nr5a1	A	G	2: 38,708,129	S219P	probably benign	Het
Olfr902	T	C	9: 38,449,193	F107S	possibly damaging	Het
Olfr945	A	T	9: 39,258,224	Y149*	probably null	Het
Pcdhb19	A	G	18: 37,498,637	D495G	probably damaging	Het
Pfkm	A	G	15: 98,128,242	M573V	probably damaging	Het
Plec	A	T	15: 76,181,316	L1586Q	probably damaging	Het
Prelp	C	A	1: 133,915,267	E47*	probably null	Het
Rbm33	T	A	5: 28,410,755	I32N	probably damaging	Het
Rgs12	A	T	5: 35,025,883	D310V	probably damaging	Het
Ripor2	A	C	13: 24,696,529	H404P	possibly damaging	Het
Sh3d21	T	C	4: 126,162,241	E124G	probably benign	Het
Shroom2	C	T	X: 152,659,553	S872N	probably benign	Het
Slc44a5	A	G	3: 154,251,014	Y301C	probably damaging	Het
Smap1	A	T	1: 23,891,914	H66Q	possibly damaging	Het
Smyd1	G	T	6: 71,221,023		probably benign	Het
Spata5	G	T	3: 37,464,545	G743W	probably damaging	Het
Sptbn4	T	A	7: 27,394,148		probably benign	Het
Stag3	A	G	5: 138,282,693	K49R	probably damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tbc1d19	A	G	5: 53,835,217	T114A	probably benign	Het
Tln2	G	A	9: 67,221,525		probably benign	Het
Tmem2	T	A	19: 21,811,877	D558E	probably damaging	Het
Trmt10a	T	A	3: 138,152,184		probably null	Het
Vwde	G	A	6: 13,187,137	H784Y	probably damaging	Het
Zfp773	T	C	7: 7,134,233	T121A	probably benign	Het

Other mutations in Stim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Stim1	APN	7	102426747	missense	probably damaging	1.00
IGL01390:Stim1	APN	7	102427162	missense	possibly damaging	0.73
IGL01602:Stim1	APN	7	102386115	missense	possibly damaging	0.86
IGL01605:Stim1	APN	7	102386115	missense	possibly damaging	0.86
IGL01697:Stim1	APN	7	102425969	splice site	probably benign
IGL01826:Stim1	APN	7	102427075	splice site	probably benign
IGL01908:Stim1	APN	7	102435650	missense	probably benign
IGL03146:Stim1	APN	7	102421355	missense	probably damaging	1.00
R0217:Stim1	UTSW	7	102435800	missense	probably benign	0.00
R1320:Stim1	UTSW	7	102408406	missense	possibly damaging	0.79
R1639:Stim1	UTSW	7	102354541	missense	probably benign	0.31
R1643:Stim1	UTSW	7	102386100	missense	possibly damaging	0.92
R1697:Stim1	UTSW	7	102354506	missense	probably damaging	1.00
R2424:Stim1	UTSW	7	102408405	missense	probably benign	0.03
R3838:Stim1	UTSW	7	102411296	missense	possibly damaging	0.71
R3940:Stim1	UTSW	7	102435641	missense	probably benign	0.00
R4820:Stim1	UTSW	7	102415364	missense	probably damaging	0.97
R4871:Stim1	UTSW	7	102354572	missense	probably damaging	1.00
R5110:Stim1	UTSW	7	102268422	missense	unknown
R5787:Stim1	UTSW	7	102435440	missense	possibly damaging	0.52
R6400:Stim1	UTSW	7	102430950	missense	probably null	0.99
R6788:Stim1	UTSW	7	102427291	missense	probably damaging	0.99
R7112:Stim1	UTSW	7	102408408	missense	probably benign	0.01
R7125:Stim1	UTSW	7	102435534	missense	possibly damaging	0.69
R7247:Stim1	UTSW	7	102421532	critical splice donor site	probably null
R7650:Stim1	UTSW	7	102428827	missense
R7807:Stim1	UTSW	7	102427141	missense	probably damaging	0.99
R8304:Stim1	UTSW	7	102435481	missense	possibly damaging	0.55
R8462:Stim1	UTSW	7	102427117	missense	probably damaging	1.00
R8528:Stim1	UTSW	7	102431082	intron	probably benign
R8883:Stim1	UTSW	7	102431050	missense	unknown
R8921:Stim1	UTSW	7	102421390	missense	probably damaging	0.99
R8924:Stim1	UTSW	7	102428807	missense
R9018:Stim1	UTSW	7	102411275	missense	probably benign	0.05
R9164:Stim1	UTSW	7	102435419	missense	probably benign	0.35
R9396:Stim1	UTSW	7	102415385	missense	possibly damaging	0.63
R9487:Stim1	UTSW	7	102431050	missense	unknown
R9501:Stim1	UTSW	7	102411299	missense	possibly damaging	0.92
R9697:Stim1	UTSW	7	102428807	missense
R9710:Stim1	UTSW	7	102430911	small deletion	probably benign
R9734:Stim1	UTSW	7	102415353	missense	possibly damaging	0.56

Posted On

2015-12-18