Mutagenetix > Incidental Mutation

Incidental Mutation 'R4820:Stim1'

370136

Institutional Source

Beutler Lab

Gene Symbol

Stim1

Ensembl Gene

ENSMUSG00000030987

Gene Name

stromal interaction molecule 1

Synonyms

SIM

MMRRC Submission

042436-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4820 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101917013-102086526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102064571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 214 (F214I)

Ref Sequence

ENSEMBL: ENSMUSP00000147443 (fasta)

Gene Model

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

AlphaFold

P70302

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033289
AA Change: F214I

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033289
Gene: ENSMUSG00000030987
AA Change: F214I

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: F214I

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211457
AA Change: F214I

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Meta Mutation Damage Score

0.1251

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 92.9%

Validation Efficiency

96% (104/108)

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
4930488N24Rik	T	C	17: 14,326,481 (GRCm39)		noncoding transcript	Het
5730455P16Rik	A	T	11: 80,266,346 (GRCm39)	S132T	possibly damaging	Het
Aadacl3	T	A	4: 144,184,527 (GRCm39)	H77L	probably damaging	Het
Actr5	T	A	2: 158,467,426 (GRCm39)	V122D	probably damaging	Het
Adamts7	A	G	9: 90,071,739 (GRCm39)	D678G	possibly damaging	Het
Alpk1	T	A	3: 127,464,708 (GRCm39)	D1190V	probably benign	Het
Apbb1ip	A	T	2: 22,765,265 (GRCm39)	N649Y	unknown	Het
Atp6v0a1	A	G	11: 100,933,776 (GRCm39)	I522V	probably benign	Het
Brd10	T	C	19: 29,695,809 (GRCm39)	N1228S	possibly damaging	Het
Cars1	T	C	7: 143,124,301 (GRCm39)	D375G	probably damaging	Het
Catspere1	A	T	1: 177,687,441 (GRCm39)		noncoding transcript	Het
Ccdc87	A	G	19: 4,890,579 (GRCm39)	D357G	probably damaging	Het
Cd101	A	T	3: 100,929,471 (GRCm39)	S8T	probably benign	Het
Cfap65	C	T	1: 74,966,791 (GRCm39)	A299T	probably benign	Het
Cic	T	C	7: 24,971,157 (GRCm39)	V296A	possibly damaging	Het
Col7a1	T	A	9: 108,797,675 (GRCm39)	S1686T	possibly damaging	Het
Ctbp2	A	C	7: 132,615,423 (GRCm39)	L504R	probably damaging	Het
Cttnbp2nl	T	C	3: 104,918,640 (GRCm39)	K67E	probably benign	Het
Cyp2c50	C	T	19: 40,102,024 (GRCm39)	P480S	probably damaging	Het
Dcdc5	A	C	2: 106,166,420 (GRCm39)		noncoding transcript	Het
Defb2	G	T	8: 22,333,317 (GRCm39)	E31*	probably null	Het
Dhrs1	T	A	14: 55,977,083 (GRCm39)	N244I	possibly damaging	Het
Dop1b	A	G	16: 93,589,978 (GRCm39)	I134V	probably benign	Het
Eif1ad11	A	T	12: 87,994,158 (GRCm39)	I129F	unknown	Het
Etl4	A	G	2: 20,811,496 (GRCm39)	D1193G	possibly damaging	Het
Ezh1	A	C	11: 101,094,594 (GRCm39)	S399R	probably damaging	Het
Fam161a	T	C	11: 22,970,076 (GRCm39)	S26P	probably damaging	Het
Fcgbp	C	A	7: 27,813,383 (GRCm39)	S2306Y	probably damaging	Het
Fras1	T	C	5: 96,876,512 (GRCm39)	I2415T	probably benign	Het
Gas2l3	A	G	10: 89,252,907 (GRCm39)	L246P	probably damaging	Het
Gdf15	C	T	8: 71,082,246 (GRCm39)	V287M	probably damaging	Het
Gm7742	T	C	17: 21,420,235 (GRCm39)		noncoding transcript	Het
Grin2d	T	C	7: 45,507,363 (GRCm39)	D446G	probably damaging	Het
Hemk1	A	G	9: 107,205,385 (GRCm39)	F107L	probably benign	Het
Hmgcr	C	T	13: 96,796,700 (GRCm39)	G197S	probably damaging	Het
Ift52	G	A	2: 162,873,108 (GRCm39)	G207D	probably benign	Het
Il17re	A	G	6: 113,442,816 (GRCm39)	T275A	probably benign	Het
Iqcf3	T	C	9: 106,430,788 (GRCm39)		probably benign	Het
Kcna1	A	G	6: 126,619,099 (GRCm39)	I407T	probably damaging	Het
Kcnrg	T	A	14: 61,845,386 (GRCm39)	M142K	probably benign	Het
Lhx9	C	A	1: 138,766,105 (GRCm39)	V237L	probably benign	Het
Lipo3	A	C	19: 33,560,497 (GRCm39)	I56S	probably damaging	Het
Loxhd1	C	G	18: 77,472,663 (GRCm39)	P1060R	probably damaging	Het
Map2k4	A	C	11: 65,587,201 (GRCm39)		probably benign	Het
Methig1	A	G	15: 100,251,416 (GRCm39)	K109R	possibly damaging	Het
Mmrn1	G	A	6: 60,950,027 (GRCm39)	V326I	probably benign	Het
Myo15a	G	A	11: 60,367,741 (GRCm39)	R167H	probably damaging	Het
Ncoa7	G	A	10: 30,524,472 (GRCm39)	T142M	probably damaging	Het
Nfkb2	C	A	19: 46,296,493 (GRCm39)	Q254K	probably damaging	Het
Nherf1	A	G	11: 115,070,918 (GRCm39)	E290G	probably benign	Het
Nol6	G	T	4: 41,121,508 (GRCm39)	P278Q	probably damaging	Het
Nptxr	T	A	15: 79,677,027 (GRCm39)	D285V	probably damaging	Het
Oosp3	T	C	19: 11,688,997 (GRCm39)	W82R	probably damaging	Het
Or6b3	A	T	1: 92,438,812 (GRCm39)	*313K	probably null	Het
Or6n1	A	G	1: 173,916,742 (GRCm39)	I45M	possibly damaging	Het
Pa2g4	G	T	10: 128,395,199 (GRCm39)	T322K	probably damaging	Het
Parp16	C	A	9: 65,145,175 (GRCm39)	F291L	probably damaging	Het
Pdzd9	A	T	7: 120,267,619 (GRCm39)	D65E	probably damaging	Het
Pgap3	A	G	11: 98,281,300 (GRCm39)	W238R	probably damaging	Het
Pgf	G	A	12: 85,218,538 (GRCm39)	H67Y	probably benign	Het
Pik3cb	T	C	9: 98,955,679 (GRCm39)	T413A	probably benign	Het
Plcxd2	A	T	16: 45,800,700 (GRCm39)	C175S	probably benign	Het
Pou2f1	A	T	1: 165,719,517 (GRCm39)		probably benign	Het
Ppfia1	T	G	7: 144,052,106 (GRCm39)	N846T	probably benign	Het
Ppid	T	A	3: 79,502,504 (GRCm39)		probably null	Het
Prkcq	G	A	2: 11,231,797 (GRCm39)		probably null	Het
Ptgds	T	C	2: 25,359,058 (GRCm39)	K66E	probably benign	Het
Ptpmt1	A	G	2: 90,748,283 (GRCm39)		noncoding transcript	Het
Rab3il1	G	A	19: 10,004,034 (GRCm39)	G51D	probably benign	Het
Rdx	T	C	9: 51,974,891 (GRCm39)	V9A	probably damaging	Het
Rpl7l1	T	C	17: 47,089,014 (GRCm39)	N239S	probably benign	Het
Rrbp1	C	A	2: 143,806,685 (GRCm39)	A978S	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGCCGGCGGCG	7: 97,229,126 (GRCm39)		probably benign	Het
Scn3a	A	T	2: 65,291,622 (GRCm39)	I1708N	probably damaging	Het
Serinc1	A	G	10: 57,401,466 (GRCm39)	I109T	possibly damaging	Het
Shroom1	G	A	11: 53,355,966 (GRCm39)	V339I	probably benign	Het
Slc30a8	T	A	15: 52,169,880 (GRCm39)	C36S	probably benign	Het
Slco1b2	A	G	6: 141,631,158 (GRCm39)	I597M	probably benign	Het
Snx27	A	G	3: 94,427,518 (GRCm39)	F228S	probably damaging	Het
Spata31f1a	T	A	4: 42,851,815 (GRCm39)	I114F	probably damaging	Het
Speer4e2	G	T	5: 15,026,225 (GRCm39)	T144K	probably benign	Het
Svep1	T	C	4: 58,082,664 (GRCm39)	T1987A	probably benign	Het
Tamm41	A	G	6: 115,002,378 (GRCm39)	I18T	possibly damaging	Het
Tmem150b	T	A	7: 4,726,871 (GRCm39)	D79V	probably damaging	Het
Tmem167	T	A	13: 90,252,548 (GRCm39)	I68N	probably benign	Het
Traf3	A	G	12: 111,227,204 (GRCm39)	E339G	possibly damaging	Het
Tspan12	G	A	6: 21,795,660 (GRCm39)	P177S	probably damaging	Het
Ttn	A	G	2: 76,783,562 (GRCm39)	I810T	probably benign	Het
Ulk1	T	C	5: 110,939,996 (GRCm39)	T407A	probably benign	Het
Uroc1	G	A	6: 90,334,600 (GRCm39)		probably null	Het
Vmn2r-ps69	T	C	7: 84,959,584 (GRCm39)		noncoding transcript	Het
Wdr59	T	C	8: 112,207,446 (GRCm39)	N476S	probably benign	Het
Zfp472	A	G	17: 33,196,416 (GRCm39)	M164V	probably benign	Het
Zfp608	T	C	18: 55,120,756 (GRCm39)	N277S	probably benign	Het
Zfp831	T	C	2: 174,547,097 (GRCm39)	C1427R	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
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'- TCCAAAGGAGGACTTGGCAG -3'
(R):5'- ACAGGAGACTTCTAAGAGCTGG -3'

Sequencing Primer
(F):5'- GAGAGATAGGCACAGACTTTATTATG -3'
(R):5'- CCTGATCTACAAAGTGAGTTCCAGG -3'

Posted On

2016-02-04