Incidental Mutation 'R1018:Stam'
ID |
96535 |
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 |
039122-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R1018 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
14078910-14153296 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 14122185 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141207
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028050]
[ENSMUST00000102960]
[ENSMUST00000138989]
[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: ENSMUST00000138989
|
SMART Domains |
Protein: ENSMUSP00000121228 Gene: ENSMUSG00000026718
Domain | Start | End | E-Value | Type |
VHS
|
4 |
136 |
1.76e-59 |
SMART |
UIM
|
168 |
187 |
1.6e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156901
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.7%
|
Validation Efficiency |
100% (50/50) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
T |
10: 79,837,325 (GRCm39) |
C403F |
probably damaging |
Het |
Adam20 |
C |
T |
8: 41,249,146 (GRCm39) |
Q419* |
probably null |
Het |
Ankrd36 |
C |
T |
11: 5,596,876 (GRCm39) |
|
probably benign |
Het |
Arl8b |
T |
A |
6: 108,795,572 (GRCm39) |
I170K |
probably damaging |
Het |
Atp5pb |
A |
T |
3: 105,861,488 (GRCm39) |
V78E |
possibly damaging |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Cgnl1 |
A |
G |
9: 71,633,340 (GRCm39) |
Y4H |
probably damaging |
Het |
Cnn2 |
T |
C |
10: 79,829,397 (GRCm39) |
C176R |
probably damaging |
Het |
Dst |
A |
G |
1: 34,233,174 (GRCm39) |
D3392G |
probably damaging |
Het |
Eed |
T |
C |
7: 89,617,019 (GRCm39) |
|
probably benign |
Het |
Efl1 |
T |
A |
7: 82,412,221 (GRCm39) |
V870E |
possibly damaging |
Het |
Epx |
T |
C |
11: 87,760,129 (GRCm39) |
N495S |
probably benign |
Het |
Fbxw20 |
T |
A |
9: 109,050,404 (GRCm39) |
Y407F |
probably benign |
Het |
Gbp9 |
T |
A |
5: 105,228,126 (GRCm39) |
Q552L |
probably benign |
Het |
Hspa13 |
C |
A |
16: 75,558,164 (GRCm39) |
V134L |
possibly damaging |
Het |
Il16 |
T |
C |
7: 83,323,746 (GRCm39) |
N268S |
probably damaging |
Het |
Kif14 |
G |
A |
1: 136,423,579 (GRCm39) |
|
probably benign |
Het |
Lrig1 |
G |
A |
6: 94,599,583 (GRCm39) |
|
probably benign |
Het |
Myo7a |
T |
A |
7: 97,756,212 (GRCm39) |
D29V |
probably damaging |
Het |
Nsd2 |
A |
G |
5: 34,000,585 (GRCm39) |
K34R |
probably damaging |
Het |
Or4a15 |
C |
A |
2: 89,193,523 (GRCm39) |
L83F |
possibly damaging |
Het |
P3h1 |
C |
A |
4: 119,095,104 (GRCm39) |
T287K |
probably damaging |
Het |
Pkhd1 |
A |
T |
1: 20,271,483 (GRCm39) |
H3023Q |
possibly damaging |
Het |
Plxna1 |
A |
G |
6: 89,319,942 (GRCm39) |
L535P |
probably damaging |
Het |
Prom1 |
A |
T |
5: 44,187,056 (GRCm39) |
S400R |
probably benign |
Het |
Psap |
T |
G |
10: 60,136,590 (GRCm39) |
L523R |
probably damaging |
Het |
Psme4 |
C |
T |
11: 30,754,310 (GRCm39) |
T189I |
probably damaging |
Het |
Ptpn12 |
A |
T |
5: 21,234,867 (GRCm39) |
S39T |
possibly damaging |
Het |
Qtrt2 |
T |
A |
16: 43,698,363 (GRCm39) |
H98L |
possibly damaging |
Het |
Rad54l2 |
C |
A |
9: 106,589,589 (GRCm39) |
C601F |
probably benign |
Het |
Saxo4 |
A |
T |
19: 10,456,824 (GRCm39) |
|
probably benign |
Het |
Sfswap |
A |
G |
5: 129,631,640 (GRCm39) |
K756R |
possibly damaging |
Het |
Slc24a5 |
T |
C |
2: 124,910,827 (GRCm39) |
V86A |
probably damaging |
Het |
Srrm2 |
T |
C |
17: 24,041,514 (GRCm39) |
S2575P |
probably damaging |
Het |
Tbx6 |
T |
A |
7: 126,382,364 (GRCm39) |
|
probably benign |
Het |
Tmem131 |
A |
C |
1: 36,833,900 (GRCm39) |
F1727V |
probably damaging |
Het |
Tpr |
T |
A |
1: 150,317,934 (GRCm39) |
H2147Q |
possibly damaging |
Het |
Trio |
T |
A |
15: 27,871,257 (GRCm39) |
H620L |
probably damaging |
Het |
Uba5 |
T |
C |
9: 103,927,102 (GRCm39) |
T292A |
probably benign |
Het |
Unc5a |
T |
A |
13: 55,138,765 (GRCm39) |
V48E |
possibly damaging |
Het |
Upf1 |
G |
T |
8: 70,791,556 (GRCm39) |
H514Q |
possibly damaging |
Het |
Usp9y |
A |
G |
Y: 1,341,414 (GRCm39) |
|
probably benign |
Het |
Vmn2r6 |
T |
A |
3: 64,464,261 (GRCm39) |
D191V |
probably benign |
Het |
Wapl |
T |
C |
14: 34,413,863 (GRCm39) |
Y242H |
possibly damaging |
Het |
Zfp341 |
A |
T |
2: 154,487,972 (GRCm39) |
N812Y |
probably damaging |
Het |
Zfp358 |
C |
A |
8: 3,546,843 (GRCm39) |
S475* |
probably null |
Het |
Zfp957 |
C |
A |
14: 79,450,182 (GRCm39) |
C539F |
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 |
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 |
14,151,096 (GRCm39) |
utr 3 prime |
probably benign |
|
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'- GGGCCAGATCTTTAGAAGGAGTTGC -3'
(R):5'- CCTGAGAGCCAATAGCTGGGAATG -3'
Sequencing Primer
(F):5'- GCCCCTAATATTGTGGCAAAG -3'
(R):5'- CCAATAGCTGGGAATGTTACAC -3'
|
Posted On |
2014-01-05 |