Incidental Mutation 'R8687:Stam'
| ID |
662078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stam
|
| Ensembl Gene |
ENSMUSG00000026718 |
| Gene Name |
signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 |
| Synonyms |
STAM1 |
| MMRRC Submission |
068542-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R8687 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
14078910-14153296 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
TGCTGCTGCTGCTGCCGCTGCTGCTGCTG to TGCTGCTGCTGCTG
at 14151096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028050]
[ENSMUST00000102960]
[ENSMUST00000193636]
|
| AlphaFold |
P70297 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028050
|
| SMART Domains |
Protein: ENSMUSP00000028050
Gene: ENSMUSG00000026718
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
9 |
139 |
1.87e-63 |
SMART |
|
UIM
|
171 |
190 |
1.6e-2 |
SMART |
|
SH3
|
213 |
268 |
8.29e-23 |
SMART |
|
PDB:3F1I|C
|
301 |
377 |
9e-46 |
PDB |
|
low complexity region
|
387 |
404 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102960
|
| SMART Domains |
Protein: ENSMUSP00000100025
Gene: ENSMUSG00000026718
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
9 |
139 |
1.87e-63 |
SMART |
|
UIM
|
171 |
190 |
1.6e-2 |
SMART |
|
SH3
|
213 |
268 |
8.29e-23 |
SMART |
|
Pfam:GAT
|
304 |
377 |
6.8e-10 |
PFAM |
|
low complexity region
|
387 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
540 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193636
|
| SMART Domains |
Protein: ENSMUSP00000141207
Gene: ENSMUSG00000026718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VHS
|
5 |
44 |
2e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
92% (22/24) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the signal-transducing adaptor molecule family. These proteins mediate downstream signaling of cytokine receptors and also play a role in ER to Golgi trafficking by interacting with the coat protein II complex. The encoded protein also associates with hepatocyte growth factor-regulated substrate to form the endosomal sorting complex required for transport-0 (ESCRT-0), which sorts ubiquitinated membrane proteins to the ESCRT-1 complex for lysosomal degradation. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit progressive growth retardation, priapism, male infertility, degeneration of hippocapal CA3 pyramidal neurons and premature death, but exhibit normal lymphocyte development, proliferation and responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap45 |
C |
T |
10: 79,852,621 (GRCm39) |
|
probably benign |
Het |
| B3galt4 |
A |
G |
17: 34,169,819 (GRCm39) |
S140P |
probably damaging |
Het |
| Cog6 |
C |
T |
3: 52,892,338 (GRCm39) |
V624I |
probably benign |
Het |
| Cysrt1 |
A |
G |
2: 25,129,399 (GRCm39) |
S38P |
possibly damaging |
Het |
| Eme2 |
C |
T |
17: 25,113,813 (GRCm39) |
V71M |
possibly damaging |
Het |
| Eva1c |
C |
A |
16: 90,687,433 (GRCm39) |
T223K |
probably benign |
Het |
| Gm3633 |
A |
T |
14: 42,462,648 (GRCm39) |
L81H |
|
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Iqch |
A |
T |
9: 63,432,067 (GRCm39) |
W443R |
probably damaging |
Het |
| Itgb1 |
T |
C |
8: 129,442,697 (GRCm39) |
V294A |
probably damaging |
Het |
| Kif1b |
T |
A |
4: 149,345,620 (GRCm39) |
K407* |
probably null |
Het |
| Kyat1 |
A |
G |
2: 30,075,759 (GRCm39) |
S377P |
probably benign |
Het |
| Mical3 |
A |
G |
6: 120,936,438 (GRCm39) |
S1363P |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,435,636 (GRCm39) |
R962S |
probably benign |
Het |
| Pnma8a |
T |
G |
7: 16,694,520 (GRCm39) |
V125G |
probably damaging |
Het |
| Ptpdc1 |
G |
A |
13: 48,740,136 (GRCm39) |
P432S |
possibly damaging |
Het |
| Rhobtb2 |
G |
A |
14: 70,038,104 (GRCm39) |
T52I |
probably damaging |
Het |
| Slco1a8 |
C |
T |
6: 141,939,991 (GRCm39) |
G171S |
probably damaging |
Het |
| Spop |
G |
A |
11: 95,361,337 (GRCm39) |
|
probably benign |
Het |
| Tmem102 |
T |
C |
11: 69,695,441 (GRCm39) |
H177R |
probably benign |
Het |
| Trpc4ap |
T |
C |
2: 155,477,170 (GRCm39) |
T748A |
possibly damaging |
Het |
| Ttc27 |
T |
A |
17: 75,046,679 (GRCm39) |
Y247N |
probably benign |
Het |
| Ttc39a |
T |
C |
4: 109,288,776 (GRCm39) |
I292T |
probably damaging |
Het |
|
| Other mutations in Stam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Stam
|
APN |
2 |
14,120,779 (GRCm39) |
intron |
probably benign |
|
|
IGL02964:Stam
|
APN |
2 |
14,120,779 (GRCm39) |
intron |
probably benign |
|
|
IGL03365:Stam
|
APN |
2 |
14,151,201 (GRCm39) |
nonsense |
probably null |
|
|
R0058:Stam
|
UTSW |
2 |
14,142,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Stam
|
UTSW |
2 |
14,143,802 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0479:Stam
|
UTSW |
2 |
14,122,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1018:Stam
|
UTSW |
2 |
14,122,185 (GRCm39) |
splice site |
probably benign |
|
|
R1554:Stam
|
UTSW |
2 |
14,146,639 (GRCm39) |
missense |
probably benign |
|
|
R1631:Stam
|
UTSW |
2 |
14,151,059 (GRCm39) |
nonsense |
probably null |
|
|
R1897:Stam
|
UTSW |
2 |
14,133,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3735:Stam
|
UTSW |
2 |
14,133,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3973:Stam
|
UTSW |
2 |
14,143,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Stam
|
UTSW |
2 |
14,120,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Stam
|
UTSW |
2 |
14,107,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5079:Stam
|
UTSW |
2 |
14,079,350 (GRCm39) |
missense |
probably benign |
|
|
R5209:Stam
|
UTSW |
2 |
14,151,158 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5574:Stam
|
UTSW |
2 |
14,120,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5636:Stam
|
UTSW |
2 |
14,122,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6968:Stam
|
UTSW |
2 |
14,120,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7384:Stam
|
UTSW |
2 |
14,139,241 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8127:Stam
|
UTSW |
2 |
14,122,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8687:Stam
|
UTSW |
2 |
14,151,091 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8938:Stam
|
UTSW |
2 |
14,133,984 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9423:Stam
|
UTSW |
2 |
14,146,564 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9435:Stam
|
UTSW |
2 |
14,120,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Stam
|
UTSW |
2 |
14,122,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Stam
|
UTSW |
2 |
14,143,901 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Stam
|
UTSW |
2 |
14,133,375 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Stam
|
UTSW |
2 |
14,120,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTCCAGTACTTAAATAACAGGG -3'
(R):5'- TCAAGTCCTATAGCAGAGCCTTC -3'
Sequencing Primer
(F):5'- ATCTCTGAATGGGTGCAG -3'
(R):5'- AGAGCCTTCTGAGAATATGCTTGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation