Mutagenetix > Incidental Mutation

Incidental Mutation 'R7650:Stim1'

590758

Institutional Source

Beutler Lab

Gene Symbol

Stim1

Ensembl Gene

ENSMUSG00000030987

Gene Name

stromal interaction molecule 1

Synonyms

SIM

MMRRC Submission

045727-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7650 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101917013-102086526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102078034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 179 (S179T)

Gene Model

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

AlphaFold

P70302

Predicted Effect

probably benign
Transcript: ENSMUST00000033289

SMART Domains

Protein: ENSMUSP00000033289
Gene: ENSMUSG00000030987

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 benign
Transcript: ENSMUST00000209255

Predicted Effect

probably benign
Transcript: ENSMUST00000211457

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	G	A	7: 30,399,214 (GRCm39)	V3I	probably benign	Het
Adam33	T	C	2: 130,903,067 (GRCm39)	E59G	probably damaging	Het
Akap13	T	A	7: 75,293,202 (GRCm39)	V45E	probably benign	Het
Ap1s1	A	G	5: 137,074,387 (GRCm39)	S28P	probably benign	Het
Btnl2	T	C	17: 34,577,103 (GRCm39)	L86P	probably damaging	Het
Carm1	G	A	9: 21,491,668 (GRCm39)	V246I	probably benign	Het
Cdk5rap1	C	T	2: 154,196,036 (GRCm39)	D283N	probably benign	Het
Cfap58	C	A	19: 47,974,967 (GRCm39)	N709K	possibly damaging	Het
Col24a1	A	G	3: 145,020,214 (GRCm39)	D195G	probably benign	Het
Dcaf1	A	G	9: 106,715,543 (GRCm39)	D220G	probably benign	Het
Ddias	C	T	7: 92,508,143 (GRCm39)	G591R	probably benign	Het
Defb22	A	T	2: 152,328,023 (GRCm39)	I54K	probably benign	Het
Dennd4b	G	A	3: 90,176,056 (GRCm39)	W202*	probably null	Het
F2	T	C	2: 91,458,741 (GRCm39)	N523S	possibly damaging	Het
Fam186a	A	G	15: 99,837,788 (GRCm39)	Y2819H	unknown	Het
Fanca	A	T	8: 123,995,303 (GRCm39)		probably null	Het
Fezf2	T	C	14: 12,342,653 (GRCm38)	H404R	probably damaging	Het
Fry	A	G	5: 150,336,883 (GRCm39)	N1418S	probably damaging	Het
Gak	A	G	5: 108,732,161 (GRCm39)	S776P	probably benign	Het
Gbf1	A	G	19: 46,260,978 (GRCm39)	H1181R	probably damaging	Het
Gdf9	G	A	11: 53,327,925 (GRCm39)	E294K	probably benign	Het
Gje1	G	A	10: 14,592,168 (GRCm39)	R205*	probably null	Het
Gm8206	T	C	14: 6,055,211 (GRCm38)		probably null	Het
Gpr162	T	A	6: 124,838,806 (GRCm39)		probably benign	Het
Gxylt1	C	T	15: 93,143,539 (GRCm39)	R363H	probably benign	Het
Hnrnph1	A	T	11: 50,274,726 (GRCm39)	M396L	probably benign	Het
Ice1	A	G	13: 70,737,916 (GRCm39)	V2177A	possibly damaging	Het
Ice1	T	A	13: 70,753,602 (GRCm39)	Q828L	probably damaging	Het
Ift56	T	A	6: 38,371,975 (GRCm39)	N188K	probably benign	Het
Il10	A	T	1: 130,949,192 (GRCm39)	T118S	probably benign	Het
Itpr2	C	T	6: 146,135,492 (GRCm39)	R1813Q	probably benign	Het
Kbtbd12	T	A	6: 88,595,530 (GRCm39)	Q100L	probably damaging	Het
Kin	A	G	2: 10,096,979 (GRCm39)	D276G	possibly damaging	Het
Klhl1	T	C	14: 96,584,379 (GRCm39)	T284A	probably damaging	Het
Kmt2d	C	T	15: 98,748,751 (GRCm39)	A2858T	unknown	Het
Krt8	G	A	15: 101,912,598 (GRCm39)	T26M	probably benign	Het
Lama3	T	A	18: 12,670,895 (GRCm39)	M827K	probably benign	Het
Lingo3	T	C	10: 80,671,597 (GRCm39)	N111S	probably damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Metap1	A	G	3: 138,172,128 (GRCm39)	V263A	probably damaging	Het
Msantd5	G	A	11: 51,125,613 (GRCm39)	E179K	possibly damaging	Het
Muc5ac	A	G	7: 141,363,159 (GRCm39)	T2157A	unknown	Het
Myo1d	G	T	11: 80,492,510 (GRCm39)	H748Q	probably benign	Het
Nfkbiz	A	T	16: 55,638,202 (GRCm39)	N419K	probably benign	Het
Nol10	T	C	12: 17,412,683 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,594,105 (GRCm39)	L284P	probably damaging	Het
Nrp1	T	A	8: 129,224,495 (GRCm39)	W753R	possibly damaging	Het
Obscn	A	G	11: 58,951,820 (GRCm39)	S3978P	probably benign	Het
Opa3	C	A	7: 18,978,896 (GRCm39)	N120K	probably benign	Het
Or5k17	T	A	16: 58,746,416 (GRCm39)	R173*	probably null	Het
Or8g53	A	T	9: 39,683,169 (GRCm39)	F309Y	probably benign	Het
Pabpc1l	T	C	2: 163,891,510 (GRCm39)	L576S	probably benign	Het
Panx3	A	G	9: 37,572,701 (GRCm39)	L283S	probably damaging	Het
Pcdhb4	T	A	18: 37,442,667 (GRCm39)	V659E	probably damaging	Het
Pde4dip	A	T	3: 97,606,423 (GRCm39)		probably null	Het
Pkd1l3	T	C	8: 110,399,217 (GRCm39)	V2200A	probably benign	Het
Pkp3	G	A	7: 140,662,283 (GRCm39)	M112I	probably benign	Het
Prex2	T	C	1: 11,220,078 (GRCm39)	I683T	possibly damaging	Het
Psg22	C	A	7: 18,460,684 (GRCm39)	Q438K	possibly damaging	Het
Ptgir	T	C	7: 16,640,876 (GRCm39)	V56A	possibly damaging	Het
Pus7	G	T	5: 23,965,244 (GRCm39)	T304K	probably damaging	Het
Rab38	T	C	7: 88,079,637 (GRCm39)	Y10H	possibly damaging	Het
Ros1	C	T	10: 51,922,305 (GRCm39)	G2277D	probably benign	Het
Rpain	A	T	11: 70,861,271 (GRCm39)		probably benign	Het
Shh	C	A	5: 28,663,304 (GRCm39)	S288I	probably benign	Het
Slc26a5	C	T	5: 22,039,328 (GRCm39)	V259M	possibly damaging	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Slit1	T	A	19: 41,618,363 (GRCm39)	N771I	probably damaging	Het
Syk	A	G	13: 52,765,131 (GRCm39)	D86G	probably benign	Het
Tmem132b	T	G	5: 125,864,074 (GRCm39)	S727A	probably benign	Het
Trim42	T	A	9: 97,245,201 (GRCm39)	Y533F	probably benign	Het
Trpm6	A	T	19: 18,853,377 (GRCm39)	D1799V	possibly damaging	Het
Ube4a	A	T	9: 44,844,734 (GRCm39)	I839N	probably damaging	Het
Ugt2b36	A	G	5: 87,228,831 (GRCm39)	I404T	probably damaging	Het
Ushbp1	T	A	8: 71,843,568 (GRCm39)	Q290L	possibly damaging	Het
Vcl	T	A	14: 21,045,114 (GRCm39)	I273K	probably damaging	Het
Vmn2r73	T	A	7: 85,521,147 (GRCm39)	I274L	probably benign	Het
Zc3h7b	A	G	15: 81,677,851 (GRCm39)	D945G	possibly damaging	Het
Zfp454	A	G	11: 50,774,580 (GRCm39)	L31P	probably damaging	Het
Zfp536	C	A	7: 37,269,117 (GRCm39)	V100L	probably damaging	Het
Zfp942	A	T	17: 22,147,818 (GRCm39)	S270R	probably benign	Het

Other mutations in Stim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GATCCAATGCTCCCATGCTC -3'
(R):5'- CCCTCCCTTCAGTTAGTAAGGAC -3'

Sequencing Primer
(F):5'- CTCTCCGGGTTAGGGAAAAGCTTC -3'
(R):5'- CCCTTCAGTTAGTAAGGACAGTGC -3'

Posted On

2019-10-24