Incidental Mutation 'R1639:Stim1'
| ID |
173372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stim1
|
| Ensembl Gene |
ENSMUSG00000030987 |
| Gene Name |
stromal interaction molecule 1 |
| Synonyms |
SIM |
| MMRRC Submission |
039675-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1639 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101917013-102086526 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102003748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 60
(D60E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033289]
[ENSMUST00000209255]
[ENSMUST00000211457]
|
| AlphaFold |
P70302 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033289
AA Change: D60E
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000033289
Gene: ENSMUSG00000030987
AA Change: D60E
| 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
AA Change: D60E
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210266
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211457
AA Change: D60E
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| Meta Mutation Damage Score |
0.0606 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| Validation Efficiency |
96% (66/69) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
C |
A |
2: 155,398,828 (GRCm39) |
T425N |
probably benign |
Het |
| Adam18 |
T |
A |
8: 25,142,168 (GRCm39) |
I203L |
probably benign |
Het |
| Amigo2 |
A |
G |
15: 97,143,879 (GRCm39) |
M181T |
probably benign |
Het |
| Anks1 |
T |
A |
17: 28,277,280 (GRCm39) |
I1045N |
probably damaging |
Het |
| Ap3d1 |
C |
T |
10: 80,565,844 (GRCm39) |
V108I |
probably damaging |
Het |
| Arl8a |
C |
T |
1: 135,080,561 (GRCm39) |
R57* |
probably null |
Het |
| Atp12a |
A |
T |
14: 56,621,525 (GRCm39) |
D720V |
possibly damaging |
Het |
| Brpf3 |
T |
C |
17: 29,043,042 (GRCm39) |
|
probably null |
Het |
| C2 |
T |
C |
17: 35,091,379 (GRCm39) |
K95E |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,352,965 (GRCm39) |
|
probably null |
Het |
| Cebpz |
T |
A |
17: 79,242,035 (GRCm39) |
I540L |
possibly damaging |
Het |
| Cep128 |
A |
G |
12: 91,333,142 (GRCm39) |
V41A |
probably damaging |
Het |
| Cog7 |
T |
C |
7: 121,580,642 (GRCm39) |
E56G |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,310 (GRCm39) |
V127A |
probably benign |
Het |
| Cyp2b23 |
A |
G |
7: 26,385,842 (GRCm39) |
V5A |
possibly damaging |
Het |
| Cyp8b1 |
A |
G |
9: 121,743,956 (GRCm39) |
Y459H |
probably benign |
Het |
| Dbpht2 |
A |
G |
12: 74,345,932 (GRCm39) |
|
noncoding transcript |
Het |
| Ddx24 |
T |
C |
12: 103,377,578 (GRCm39) |
|
probably null |
Het |
| Dgki |
C |
T |
6: 36,914,299 (GRCm39) |
C757Y |
probably damaging |
Het |
| Eef2k |
T |
A |
7: 120,485,051 (GRCm39) |
L306H |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,421,216 (GRCm39) |
N378S |
probably benign |
Het |
| Espl1 |
C |
T |
15: 102,229,149 (GRCm39) |
T1767I |
probably damaging |
Het |
| Fbn2 |
C |
A |
18: 58,191,534 (GRCm39) |
A1530S |
probably benign |
Het |
| Fndc11 |
A |
G |
2: 180,863,374 (GRCm39) |
S60G |
possibly damaging |
Het |
| Glb1l |
G |
T |
1: 75,176,245 (GRCm39) |
Q612K |
probably benign |
Het |
| Gpsm1 |
A |
G |
2: 26,235,199 (GRCm39) |
E371G |
probably damaging |
Het |
| Gtpbp2 |
G |
A |
17: 46,476,697 (GRCm39) |
|
probably null |
Het |
| Itch |
A |
G |
2: 155,020,945 (GRCm39) |
|
probably null |
Het |
| Itga2 |
T |
C |
13: 114,993,832 (GRCm39) |
T774A |
probably benign |
Het |
| Kit |
A |
G |
5: 75,813,467 (GRCm39) |
I881V |
probably damaging |
Het |
| Lpar5 |
T |
C |
6: 125,058,564 (GRCm39) |
L95P |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,430,529 (GRCm39) |
T1511A |
possibly damaging |
Het |
| Mgat4c |
T |
C |
10: 102,214,142 (GRCm39) |
Y42H |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,268 (GRCm39) |
T109K |
probably damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,199 (GRCm39) |
E308G |
probably damaging |
Het |
| Mug1 |
T |
C |
6: 121,857,530 (GRCm39) |
S1085P |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,840,987 (GRCm39) |
H956R |
probably benign |
Het |
| Ncoa7 |
A |
C |
10: 30,577,988 (GRCm39) |
L132R |
probably damaging |
Het |
| Ndufc1 |
T |
C |
3: 51,315,664 (GRCm39) |
T25A |
probably benign |
Het |
| Or4a81 |
T |
C |
2: 89,619,589 (GRCm39) |
T36A |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,404,351 (GRCm39) |
V2327M |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,887,436 (GRCm39) |
Y59H |
probably damaging |
Het |
| Sema4c |
A |
T |
1: 36,592,615 (GRCm39) |
F152I |
probably benign |
Het |
| Slit2 |
A |
T |
5: 48,416,996 (GRCm39) |
Y1016F |
probably damaging |
Het |
| Spata31d1c |
T |
A |
13: 65,183,853 (GRCm39) |
V465D |
probably benign |
Het |
| Ssc5d |
T |
C |
7: 4,931,416 (GRCm39) |
C208R |
probably damaging |
Het |
| Stambpl1 |
T |
G |
19: 34,213,707 (GRCm39) |
V312G |
probably benign |
Het |
| Syt13 |
T |
A |
2: 92,776,316 (GRCm39) |
V201D |
probably benign |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tex15 |
T |
C |
8: 34,060,845 (GRCm39) |
S366P |
possibly damaging |
Het |
| Tex56 |
T |
C |
13: 35,128,233 (GRCm39) |
I150T |
possibly damaging |
Het |
| Tpte |
G |
A |
8: 22,810,913 (GRCm39) |
R190H |
probably benign |
Het |
| Vmn1r4 |
T |
C |
6: 56,934,060 (GRCm39) |
V188A |
probably damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,654,244 (GRCm39) |
D542G |
probably damaging |
Het |
| Vps33b |
T |
A |
7: 79,934,101 (GRCm39) |
I257N |
probably damaging |
Het |
| Wwox |
G |
T |
8: 115,172,118 (GRCm39) |
G71* |
probably null |
Het |
| Zc3h11a |
G |
T |
1: 133,552,446 (GRCm39) |
Q554K |
probably benign |
Het |
| Zfp947 |
T |
C |
17: 22,365,074 (GRCm39) |
K200R |
probably benign |
Het |
| Zscan12 |
T |
A |
13: 21,553,156 (GRCm39) |
C327S |
probably 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 |
|
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 |
|
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'- GTGAAGGTTGGATGATGCACTCCC -3'
(R):5'- TTCCTAGAAGGCAACAAGCAGAGGC -3'
Sequencing Primer
(F):5'- TGGATGATGCACTCCCATCAC -3'
(R):5'- ACAAGCAGAGGCCGTCTTTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation