Incidental Mutation 'R8042:Stam2'
| ID |
618563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stam2
|
| Ensembl Gene |
ENSMUSG00000055371 |
| Gene Name |
signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 |
| Synonyms |
1200004O12Rik, 5730456G07Rik, Hbp |
| MMRRC Submission |
067479-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8042 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
52582213-52632212 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 52596409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102759]
[ENSMUST00000127316]
[ENSMUST00000155516]
|
| AlphaFold |
O88811 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000102759
|
| SMART Domains |
Protein: ENSMUSP00000099820
Gene: ENSMUSG00000055371
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
9 |
140 |
6.36e-57 |
SMART |
|
UIM
|
165 |
184 |
3.24e-3 |
SMART |
|
SH3
|
205 |
260 |
5.69e-21 |
SMART |
|
Pfam:GAT
|
294 |
367 |
2.3e-8 |
PFAM |
|
low complexity region
|
502 |
515 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127316
|
| SMART Domains |
Protein: ENSMUSP00000121898
Gene: ENSMUSG00000055371
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VHS
|
4 |
70 |
8.5e-20 |
PFAM |
|
UIM
|
132 |
151 |
3.24e-3 |
SMART |
|
SH3
|
172 |
227 |
5.69e-21 |
SMART |
|
PDB:3F1I|C
|
258 |
334 |
4e-29 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155516
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal lymphocyte responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 120,002,233 (GRCm39) |
Y1582C |
possibly damaging |
Het |
| Acly |
A |
G |
11: 100,405,151 (GRCm39) |
I339T |
probably damaging |
Het |
| Adcy4 |
A |
G |
14: 56,012,696 (GRCm39) |
V541A |
probably benign |
Het |
| Arhgef3 |
T |
A |
14: 27,084,766 (GRCm39) |
V45D |
possibly damaging |
Het |
| Azi2 |
C |
A |
9: 117,891,165 (GRCm39) |
Q397K |
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,611,445 (GRCm39) |
S451* |
probably null |
Het |
| Cacna2d3 |
A |
T |
14: 28,826,995 (GRCm39) |
|
probably benign |
Het |
| Cep85l |
A |
G |
10: 53,224,759 (GRCm39) |
Y277H |
probably damaging |
Het |
| Cep97 |
C |
A |
16: 55,731,965 (GRCm39) |
V608L |
probably benign |
Het |
| Crb1 |
T |
A |
1: 139,242,392 (GRCm39) |
Y362F |
probably damaging |
Het |
| Ctc1 |
T |
A |
11: 68,920,669 (GRCm39) |
|
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,471,196 (GRCm39) |
|
probably null |
Het |
| Dock4 |
T |
C |
12: 40,795,759 (GRCm39) |
F859L |
probably benign |
Het |
| Errfi1 |
T |
C |
4: 150,950,914 (GRCm39) |
F114S |
possibly damaging |
Het |
| Gbp9 |
T |
A |
5: 105,242,108 (GRCm39) |
I150F |
probably damaging |
Het |
| Loxhd1 |
C |
T |
18: 77,518,888 (GRCm39) |
T1898M |
probably damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,507,680 (GRCm39) |
T394S |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,838,673 (GRCm39) |
E1115G |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,917,753 (GRCm39) |
S552G |
probably damaging |
Het |
| Mgat4b |
T |
A |
11: 50,123,203 (GRCm39) |
Y263* |
probably null |
Het |
| Moxd2 |
T |
C |
6: 40,862,301 (GRCm39) |
I173V |
probably benign |
Het |
| Mrc2 |
T |
C |
11: 105,239,181 (GRCm39) |
V1312A |
probably damaging |
Het |
| Myh1 |
A |
T |
11: 67,097,429 (GRCm39) |
I465F |
probably damaging |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,273,210 (GRCm39) |
D196G |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,931,143 (GRCm39) |
D5028G |
possibly damaging |
Het |
| Pabpc1 |
A |
G |
15: 36,598,553 (GRCm39) |
F447S |
probably benign |
Het |
| Pcsk6 |
T |
G |
7: 65,577,683 (GRCm39) |
N201K |
possibly damaging |
Het |
| Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,393,881 (GRCm39) |
T850A |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,332,480 (GRCm39) |
D2564G |
|
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,595,144 (GRCm39) |
T939A |
probably benign |
Het |
| Serpine1 |
A |
T |
5: 137,095,855 (GRCm39) |
L242H |
probably benign |
Het |
| Slc27a4 |
T |
A |
2: 29,701,202 (GRCm39) |
V331E |
probably damaging |
Het |
| Slc6a6 |
A |
C |
6: 91,718,226 (GRCm39) |
I347L |
probably benign |
Het |
| Spns2 |
A |
T |
11: 72,345,003 (GRCm39) |
L495H |
possibly damaging |
Het |
| Syt12 |
C |
A |
19: 4,503,852 (GRCm39) |
V260F |
probably damaging |
Het |
| Tdrd7 |
T |
A |
4: 45,987,516 (GRCm39) |
S50T |
possibly damaging |
Het |
| Tert |
T |
A |
13: 73,775,264 (GRCm39) |
V39E |
probably damaging |
Het |
| Tmem147 |
T |
A |
7: 30,427,978 (GRCm39) |
S75C |
probably damaging |
Het |
| Tnpo2 |
C |
T |
8: 85,778,188 (GRCm39) |
P564S |
probably damaging |
Het |
| Utp25 |
A |
G |
1: 192,796,980 (GRCm39) |
V1A |
|
Het |
| Vsig1 |
C |
T |
X: 139,833,875 (GRCm39) |
H232Y |
probably benign |
Het |
| Zfp738 |
A |
G |
13: 67,819,010 (GRCm39) |
L327S |
probably damaging |
Het |
|
| Other mutations in Stam2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Stam2
|
APN |
2 |
52,596,418 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL00471:Stam2
|
APN |
2 |
52,610,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01480:Stam2
|
APN |
2 |
52,606,451 (GRCm39) |
missense |
probably benign |
|
|
IGL01731:Stam2
|
APN |
2 |
52,598,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02684:Stam2
|
APN |
2 |
52,609,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02893:Stam2
|
APN |
2 |
52,604,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02900:Stam2
|
APN |
2 |
52,598,209 (GRCm39) |
missense |
probably benign |
|
|
R0110:Stam2
|
UTSW |
2 |
52,609,998 (GRCm39) |
splice site |
probably benign |
|
|
R0257:Stam2
|
UTSW |
2 |
52,584,794 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0539:Stam2
|
UTSW |
2 |
52,593,268 (GRCm39) |
splice site |
probably benign |
|
|
R1432:Stam2
|
UTSW |
2 |
52,604,821 (GRCm39) |
splice site |
probably benign |
|
|
R1699:Stam2
|
UTSW |
2 |
52,593,187 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1822:Stam2
|
UTSW |
2 |
52,606,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Stam2
|
UTSW |
2 |
52,598,239 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1984:Stam2
|
UTSW |
2 |
52,599,638 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1985:Stam2
|
UTSW |
2 |
52,599,638 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1986:Stam2
|
UTSW |
2 |
52,599,638 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1993:Stam2
|
UTSW |
2 |
52,593,168 (GRCm39) |
nonsense |
probably null |
|
|
R2179:Stam2
|
UTSW |
2 |
52,584,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2181:Stam2
|
UTSW |
2 |
52,593,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4617:Stam2
|
UTSW |
2 |
52,605,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4723:Stam2
|
UTSW |
2 |
52,610,962 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5217:Stam2
|
UTSW |
2 |
52,626,305 (GRCm39) |
intron |
probably benign |
|
|
R5218:Stam2
|
UTSW |
2 |
52,626,305 (GRCm39) |
intron |
probably benign |
|
|
R5219:Stam2
|
UTSW |
2 |
52,626,305 (GRCm39) |
intron |
probably benign |
|
|
R5366:Stam2
|
UTSW |
2 |
52,626,305 (GRCm39) |
intron |
probably benign |
|
|
R5368:Stam2
|
UTSW |
2 |
52,626,305 (GRCm39) |
intron |
probably benign |
|
|
R5420:Stam2
|
UTSW |
2 |
52,626,305 (GRCm39) |
intron |
probably benign |
|
|
R5447:Stam2
|
UTSW |
2 |
52,626,305 (GRCm39) |
intron |
probably benign |
|
|
R5490:Stam2
|
UTSW |
2 |
52,610,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5799:Stam2
|
UTSW |
2 |
52,610,922 (GRCm39) |
nonsense |
probably null |
|
|
R5861:Stam2
|
UTSW |
2 |
52,632,116 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6039:Stam2
|
UTSW |
2 |
52,599,611 (GRCm39) |
missense |
probably benign |
|
|
R6039:Stam2
|
UTSW |
2 |
52,599,611 (GRCm39) |
missense |
probably benign |
|
|
R6490:Stam2
|
UTSW |
2 |
52,610,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6552:Stam2
|
UTSW |
2 |
52,598,239 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6792:Stam2
|
UTSW |
2 |
52,597,993 (GRCm39) |
missense |
probably benign |
|
|
R7787:Stam2
|
UTSW |
2 |
52,596,418 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8050:Stam2
|
UTSW |
2 |
52,609,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8074:Stam2
|
UTSW |
2 |
52,596,438 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8245:Stam2
|
UTSW |
2 |
52,604,931 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8732:Stam2
|
UTSW |
2 |
52,590,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8856:Stam2
|
UTSW |
2 |
52,604,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9018:Stam2
|
UTSW |
2 |
52,606,463 (GRCm39) |
missense |
probably benign |
|
|
R9267:Stam2
|
UTSW |
2 |
52,604,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9679:Stam2
|
UTSW |
2 |
52,606,582 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAAGGGTCCACGGTTATATAC -3'
(R):5'- GACCTTGACTCTGGTCTGTG -3'
Sequencing Primer
(F):5'- GGGTCCACGGTTATATACATATCAC -3'
(R):5'- TGTCATCTTTCCCCAGCATAAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation