Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03146:Stim1'

410911

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 #

IGL03146

Quality Score

Status

Chromosome

Chromosomal Location

102267806-102437319 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102421355 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 265 (L265Q)

Ref Sequence

ENSEMBL: ENSMUSP00000147443 (fasta)

Gene Model

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

AlphaFold

P70302

Predicted Effect

probably damaging
Transcript: ENSMUST00000033289
AA Change: L265Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033289
Gene: ENSMUSG00000030987
AA Change: L265Q

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

probably damaging
Transcript: ENSMUST00000209255
AA Change: L265Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210834

Predicted Effect

probably benign
Transcript: ENSMUST00000211058

Predicted Effect

probably damaging
Transcript: ENSMUST00000211457
AA Change: L265Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	A	T	6: 50,573,873	V532E	probably damaging	Het
Adam5	T	C	8: 24,804,503	D360G	probably damaging	Het
Adam6a	A	T	12: 113,545,524	T506S	probably damaging	Het
Adamts15	A	G	9: 30,921,567	V224A	probably damaging	Het
Arhgef12	G	T	9: 42,974,570	D1251E	possibly damaging	Het
Ccdc180	G	T	4: 45,903,840		probably benign	Het
Ccdc85c	G	A	12: 108,207,136	R387*	probably null	Het
Cfap57	T	A	4: 118,599,019	I493F	probably damaging	Het
Chst9	A	G	18: 15,452,978	I176T	probably damaging	Het
Clpx	G	T	9: 65,326,830	V572L	probably benign	Het
Csmd3	T	A	15: 47,881,477	N1374I	probably benign	Het
Cyp2e1	T	A	7: 140,770,221	M273K	probably benign	Het
Ehbp1l1	T	C	19: 5,720,033	E414G	probably benign	Het
Ehd1	T	C	19: 6,277,338	F122L	probably damaging	Het
Fcho1	A	G	8: 71,717,430		probably benign	Het
Fermt3	T	C	19: 7,003,263	E312G	possibly damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
G3bp2	G	A	5: 92,066,540	R132C	probably damaging	Het
Inpp4b	A	T	8: 81,743,781	I35F	possibly damaging	Het
Izumo3	T	G	4: 92,145,039	I107L	probably damaging	Het
Lama3	C	A	18: 12,527,624	Q484K	possibly damaging	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Mapkbp1	T	C	2: 119,998,474		probably benign	Het
Mast4	T	C	13: 102,737,655	N1735S	probably benign	Het
Olfr1186	T	A	2: 88,526,144	M187K	possibly damaging	Het
Olfr298	T	C	7: 86,489,194	D119G	probably damaging	Het
Oxct1	T	C	15: 4,101,148	L374P	probably damaging	Het
Parp14	G	A	16: 35,858,453	Q382*	probably null	Het
Pax2	A	G	19: 44,833,275		probably benign	Het
Prkaa1	T	C	15: 5,168,641	V146A	probably damaging	Het
Ptprb	C	T	10: 116,328,127	A900V	probably benign	Het
Rgs6	A	T	12: 83,052,538	D130V	probably damaging	Het
Ryr1	C	A	7: 29,094,032	R1344L	probably benign	Het
Scgb1b12	C	A	7: 32,334,544	D76E	possibly damaging	Het
Sel1l3	T	A	5: 53,154,243	E633D	probably benign	Het
Slc1a7	T	A	4: 107,992,992	I100N	probably damaging	Het
Slc25a35	A	G	11: 68,968,852	K64E	possibly damaging	Het
Stil	C	A	4: 115,024,415	Q719K	probably damaging	Het
Tcrg-V3	C	A	13: 19,243,167	Y73*	probably null	Het
Tmem191c	A	G	16: 17,277,382	E169G	probably damaging	Het
Tmem255b	T	C	8: 13,454,174	L101P	probably damaging	Het
Zfyve26	G	A	12: 79,284,072	Q458*	probably null	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
IGL02869:Stim1	APN	7	102268551	missense	unknown
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

2016-08-02