Mutagenetix > Incidental Mutation

Incidental Mutation 'R8924:Stim1'

679470

Institutional Source

Beutler Lab

Gene Symbol

Stim1

Ensembl Gene

ENSMUSG00000030987

Gene Name

stromal interaction molecule 1

Synonyms

SIM

MMRRC Submission

068769-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8924 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101917013-102086526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102078014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 172 (D172G)

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (88/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,838,003 (GRCm39)	V1145A	probably benign	Het
Ank1	T	C	8: 23,589,011 (GRCm39)	M562T	probably benign	Het
Atn1	A	T	6: 124,722,211 (GRCm39)	S881T	probably benign	Het
B3galt1	C	T	2: 67,949,059 (GRCm39)	T258I	probably benign	Het
Bahcc1	C	T	11: 120,167,591 (GRCm39)	L1331F	probably benign	Het
Capn12	G	A	7: 28,582,628 (GRCm39)	V168M	probably damaging	Het
Card14	T	C	11: 119,216,930 (GRCm39)	V338A	possibly damaging	Het
Cd27	T	C	6: 125,213,432 (GRCm39)		probably benign	Het
Cd37	A	G	7: 44,888,109 (GRCm39)	L37P	probably damaging	Het
Cd96	A	G	16: 45,919,385 (GRCm39)	L212P	probably damaging	Het
Celsr1	T	C	15: 85,916,671 (GRCm39)	E434G	possibly damaging	Het
Cep152	A	G	2: 125,444,778 (GRCm39)	M456T	possibly damaging	Het
Ces3b	G	A	8: 105,811,619 (GRCm39)	R45H	probably benign	Het
Cfap54	T	G	10: 92,837,685 (GRCm39)	T1072P	probably damaging	Het
Chodl	A	T	16: 78,738,659 (GRCm39)	M172L	possibly damaging	Het
Cilp2	A	G	8: 70,339,108 (GRCm39)	S47P	probably damaging	Het
Clasrp	T	C	7: 19,318,232 (GRCm39)	I596V	unknown	Het
Clcn2	C	T	16: 20,530,930 (GRCm39)	V267I	probably damaging	Het
Cntln	T	A	4: 84,806,936 (GRCm39)	D139E	probably damaging	Het
Cyp2j12	A	C	4: 95,994,685 (GRCm39)	N379K	probably damaging	Het
Defb21	T	C	2: 152,416,704 (GRCm39)	V60A	possibly damaging	Het
Dnajc16	G	T	4: 141,494,018 (GRCm39)	S543*	probably null	Het
Efcab12	G	T	6: 115,800,664 (GRCm39)	H120N	probably benign	Het
Efcab3	AACTCTA	AA	11: 104,806,253 (GRCm39)		probably null	Het
Efl1	G	A	7: 82,412,161 (GRCm39)	G850D	probably benign	Het
Efna1	T	C	3: 89,183,635 (GRCm39)	M64V	probably benign	Het
Eif2ak3	T	C	6: 70,870,003 (GRCm39)	W897R	probably damaging	Het
Eif2ak4	T	A	2: 118,258,513 (GRCm39)	F621Y	probably damaging	Het
Erbin	C	A	13: 103,975,966 (GRCm39)	E643*	probably null	Het
Esr1	G	A	10: 4,807,176 (GRCm39)	W364*	probably null	Het
Fam171a2	T	C	11: 102,330,861 (GRCm39)	E206G	possibly damaging	Het
Fam90a1a	T	C	8: 22,451,429 (GRCm39)	F97L	probably benign	Het
Fap	A	T	2: 62,378,165 (GRCm39)	F181I	probably benign	Het
Fem1b	T	C	9: 62,704,916 (GRCm39)	N115D	probably damaging	Het
Gal3st2b	G	T	1: 93,868,653 (GRCm39)	A295S	probably benign	Het
Galnt10	G	A	11: 57,674,681 (GRCm39)		probably benign	Het
Gcfc2	T	C	6: 81,909,879 (GRCm39)	V224A	probably damaging	Het
Gh	T	C	11: 106,191,634 (GRCm39)	E136G	probably damaging	Het
Gjd3	C	T	11: 98,873,325 (GRCm39)	C173Y	probably damaging	Het
Gm12695	T	A	4: 96,651,046 (GRCm39)	M136L	probably benign	Het
Gnas	A	G	2: 174,141,277 (GRCm39)	E482G	unknown	Het
Gpa33	T	C	1: 165,980,351 (GRCm39)	L138P	probably damaging	Het
Hlf	T	C	11: 90,236,714 (GRCm39)	D181G	probably damaging	Het
Irgm1	A	G	11: 48,756,698 (GRCm39)	L387S	probably benign	Het
Kctd1	T	C	18: 15,102,745 (GRCm39)	E812G	possibly damaging	Het
Klra2	T	C	6: 131,205,214 (GRCm39)	E209G	probably benign	Het
Klra3	C	T	6: 130,312,732 (GRCm39)	V11M	probably benign	Het
Klrh1	G	T	6: 129,745,084 (GRCm39)	H171N	probably benign	Het
Kmt2c	T	C	5: 25,503,885 (GRCm39)	S3808G	probably benign	Het
Krtap24-1	A	C	16: 88,408,888 (GRCm39)	S79R	probably benign	Het
Limch1	T	A	5: 67,190,475 (GRCm39)	H759Q	probably benign	Het
Map3k4	A	G	17: 12,490,433 (GRCm39)	Y333H	probably benign	Het
Mmel1	A	G	4: 154,974,091 (GRCm39)	Y377C	probably damaging	Het
Ms4a14	A	T	19: 11,281,113 (GRCm39)	Y482N	possibly damaging	Het
Myo9b	A	G	8: 71,801,675 (GRCm39)	S1277G	probably benign	Het
Nab1	T	C	1: 52,529,667 (GRCm39)	T77A	possibly damaging	Het
Obsl1	T	C	1: 75,482,841 (GRCm39)	S10G	probably benign	Het
Odc1	A	G	12: 17,598,329 (GRCm39)	T157A	possibly damaging	Het
Or2a5	T	G	6: 42,873,964 (GRCm39)	L193R	probably damaging	Het
Or8b52	T	C	9: 38,576,780 (GRCm39)	D120G	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Plpp1	T	A	13: 112,943,057 (GRCm39)		probably benign	Het
Prdm13	G	A	4: 21,679,125 (GRCm39)	A455V	possibly damaging	Het
Ptpn13	A	T	5: 103,739,101 (GRCm39)	Y2289F	probably damaging	Het
Ptpn18	G	T	1: 34,498,966 (GRCm39)	R21L	probably benign	Het
Ptprd	A	G	4: 75,916,736 (GRCm39)		probably null	Het
Rcn3	G	T	7: 44,733,095 (GRCm39)	D258E	probably damaging	Het
Ro60	C	T	1: 143,641,170 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,429,895 (GRCm39)	H651Q	probably benign	Het
Sacs	T	C	14: 61,448,702 (GRCm39)	S3583P	probably damaging	Het
Scel	A	G	14: 103,829,807 (GRCm39)	N463S	possibly damaging	Het
Serpinb2	A	T	1: 107,443,284 (GRCm39)	I28F	possibly damaging	Het
Sin3b	A	G	8: 73,473,131 (GRCm39)	K484E	probably benign	Het
Snrnp48	T	A	13: 38,400,397 (GRCm39)	V168D	probably damaging	Het
Snx18	T	G	13: 113,754,931 (GRCm39)	M1L	probably benign	Het
Spata31h1	T	C	10: 82,131,295 (GRCm39)	N572D	probably benign	Het
Srcap	T	A	7: 127,158,204 (GRCm39)	N2693K	unknown	Het
Stip1	A	T	19: 7,002,687 (GRCm39)	L414H	probably damaging	Het
Sun1	A	G	5: 139,209,390 (GRCm39)	H40R	probably damaging	Het
Sva	T	A	6: 42,019,182 (GRCm39)	D117E	possibly damaging	Het
Syne2	A	G	12: 75,943,444 (GRCm39)	D321G	probably damaging	Het
Trim45	A	G	3: 100,835,394 (GRCm39)	D459G	probably damaging	Het
Ttc6	G	A	12: 57,697,790 (GRCm39)	W43*	probably null	Het
Ugt2b35	A	G	5: 87,152,780 (GRCm39)	T317A	possibly damaging	Het
Usp32	C	T	11: 84,916,370 (GRCm39)	R858Q	probably damaging	Het
Vmn2r53	G	T	7: 12,334,752 (GRCm39)	Q303K	probably benign	Het
Yeats2	T	C	16: 19,969,312 (GRCm39)		probably null	Het
Zfp804a	A	G	2: 82,088,747 (GRCm39)	N859D	probably benign	Het
Zscan10	A	T	17: 23,824,580 (GRCm39)	Q12L	possibly damaging	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
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
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'- TTGATCCAATGCTCCCATGC -3'
(R):5'- ACCCCTCCCTTCAGTTAGTAAGG -3'

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

Posted On

2021-08-02