Incidental Mutation 'R5490:Stam2'
| ID |
432027 |
| 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 |
043051-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5490 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
52582213-52632212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52610929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 31
(D31G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102759]
[ENSMUST00000127316]
[ENSMUST00000138290]
[ENSMUST00000155516]
|
| AlphaFold |
O88811 |
| PDB Structure |
Crystal Structure of STAM2 SH3 domain in complex with a UBPY-derived peptide [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102759
AA Change: D31G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099820
Gene: ENSMUSG00000055371
AA Change: D31G
| 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 damaging
Transcript: ENSMUST00000127316
AA Change: D31G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121898
Gene: ENSMUSG00000055371
AA Change: D31G
| 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 |
possibly damaging
Transcript: ENSMUST00000138290
AA Change: D2G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114620
Gene: ENSMUSG00000055371
AA Change: D2G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VHS
|
1 |
65 |
7.8e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150582
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155516
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.8%
|
| Validation Efficiency |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
C |
T |
11: 84,401,099 (GRCm39) |
G174D |
probably damaging |
Het |
| Abcc1 |
G |
T |
16: 14,228,781 (GRCm39) |
G343C |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,780,646 (GRCm39) |
N370S |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,060,395 (GRCm39) |
E451G |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,994,733 (GRCm39) |
H658R |
possibly damaging |
Het |
| Cdca2 |
T |
C |
14: 67,917,733 (GRCm39) |
E555G |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,300,995 (GRCm39) |
S299G |
possibly damaging |
Het |
| Eea1 |
A |
G |
10: 95,861,916 (GRCm39) |
E741G |
probably benign |
Het |
| Gapvd1 |
T |
C |
2: 34,583,445 (GRCm39) |
D1057G |
probably benign |
Het |
| Glyat |
C |
T |
19: 12,627,645 (GRCm39) |
T80M |
probably benign |
Het |
| Gpr87 |
T |
C |
3: 59,086,747 (GRCm39) |
S253G |
probably damaging |
Het |
| Hapstr1 |
T |
A |
16: 8,673,721 (GRCm39) |
V216E |
probably damaging |
Het |
| Hmgxb3 |
A |
G |
18: 61,296,049 (GRCm39) |
S320P |
probably damaging |
Het |
| Kcnq5 |
C |
T |
1: 21,549,692 (GRCm39) |
G345D |
probably damaging |
Het |
| Kif5c |
T |
C |
2: 49,648,870 (GRCm39) |
V938A |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Madd |
G |
T |
2: 91,000,980 (GRCm39) |
T467K |
possibly damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,455,890 (GRCm39) |
D706G |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,452,292 (GRCm39) |
H476R |
probably damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,666 (GRCm39) |
D146G |
probably damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,439,057 (GRCm39) |
S172P |
probably damaging |
Het |
| Nkx2-3 |
A |
T |
19: 43,601,093 (GRCm39) |
T52S |
probably benign |
Het |
| Nup210 |
C |
T |
6: 91,062,970 (GRCm39) |
V230I |
probably damaging |
Het |
| Or1j19 |
T |
A |
2: 36,677,193 (GRCm39) |
Y219N |
probably damaging |
Het |
| Or51f2 |
T |
C |
7: 102,527,100 (GRCm39) |
S258P |
probably damaging |
Het |
| Or5g9 |
G |
T |
2: 85,552,666 (GRCm39) |
A306S |
probably benign |
Het |
| Pepd |
A |
G |
7: 34,642,115 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
T |
A |
12: 76,484,760 (GRCm39) |
W238R |
probably damaging |
Het |
| Ppp1r36 |
G |
T |
12: 76,484,761 (GRCm39) |
W238L |
possibly damaging |
Het |
| Prpf6 |
T |
G |
2: 181,249,958 (GRCm39) |
D39E |
probably benign |
Het |
| Rassf5 |
T |
A |
1: 131,108,932 (GRCm39) |
Q163L |
possibly damaging |
Het |
| Rbm43 |
T |
A |
2: 51,815,607 (GRCm39) |
T205S |
probably benign |
Het |
| Relch |
T |
A |
1: 105,647,226 (GRCm39) |
V672D |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sds |
C |
A |
5: 120,621,715 (GRCm39) |
Q286K |
possibly damaging |
Het |
| Slc35a3 |
A |
T |
3: 116,474,839 (GRCm39) |
C184* |
probably null |
Het |
| Smg1 |
G |
A |
7: 117,738,659 (GRCm39) |
T3530I |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,470,214 (GRCm39) |
V591A |
probably benign |
Het |
| Star |
A |
G |
8: 26,299,945 (GRCm39) |
K96E |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,921,931 (GRCm39) |
L495P |
probably damaging |
Het |
| Tceanc2 |
A |
T |
4: 107,022,846 (GRCm39) |
M47K |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,881,118 (GRCm39) |
L85P |
probably damaging |
Het |
| Tmem241 |
C |
T |
18: 12,176,320 (GRCm39) |
R116K |
probably benign |
Het |
| Yipf2 |
G |
A |
9: 21,503,487 (GRCm39) |
A20V |
probably benign |
Het |
| Zc3h4 |
T |
A |
7: 16,162,930 (GRCm39) |
D443E |
unknown |
Het |
| Zfp184 |
T |
A |
13: 22,142,747 (GRCm39) |
V151D |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,916,695 (GRCm39) |
Y517C |
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 |
|
|
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 |
|
R8042:Stam2
|
UTSW |
2 |
52,596,409 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- AGACCAGATTTTCAATGAACACTG -3'
(R):5'- AGATAGTAGAAGTGTACTCTTTTCTGG -3'
Sequencing Primer
(F):5'- CTAGCCTACTGGAACGCTC -3'
(R):5'- CTGGAATTTATCCTTAGTTCTCT -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation