Incidental Mutation 'R1631:Stam'
ID |
172774 |
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 |
039668-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R1631 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
14078910-14153296 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 14151059 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 472
(S472*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100025
(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 null
Transcript: ENSMUST00000102960
AA Change: S472*
|
SMART Domains |
Protein: ENSMUSP00000100025 Gene: ENSMUSG00000026718 AA Change: S472*
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194683
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.0%
|
Validation Efficiency |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts10 |
T |
A |
17: 33,756,316 (GRCm39) |
S320T |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Als2 |
T |
C |
1: 59,257,226 (GRCm39) |
E12G |
probably benign |
Het |
Arhgef10 |
A |
T |
8: 14,997,157 (GRCm39) |
D321V |
probably damaging |
Het |
Atp8a1 |
T |
G |
5: 67,906,395 (GRCm39) |
|
probably null |
Het |
Avil |
A |
G |
10: 126,846,494 (GRCm39) |
|
probably null |
Het |
C2cd3 |
G |
A |
7: 100,021,704 (GRCm39) |
|
probably null |
Het |
Cdhr18 |
C |
T |
14: 13,829,796 (GRCm38) |
E649K |
probably damaging |
Het |
Col18a1 |
G |
A |
10: 76,895,131 (GRCm39) |
P1177S |
probably damaging |
Het |
Copb2 |
T |
A |
9: 98,462,213 (GRCm39) |
F428L |
probably benign |
Het |
Cpa1 |
A |
G |
6: 30,640,923 (GRCm39) |
E138G |
probably damaging |
Het |
Ctsm |
T |
C |
13: 61,686,249 (GRCm39) |
I12V |
possibly damaging |
Het |
Dctn1 |
A |
G |
6: 83,174,578 (GRCm39) |
Q967R |
possibly damaging |
Het |
Dok2 |
T |
C |
14: 71,014,393 (GRCm39) |
Y194H |
probably damaging |
Het |
Ezh2 |
C |
T |
6: 47,554,592 (GRCm39) |
M1I |
probably null |
Het |
Fkbp8 |
T |
A |
8: 70,984,282 (GRCm39) |
L210Q |
probably damaging |
Het |
Fpr1 |
T |
A |
17: 18,097,263 (GRCm39) |
Q242L |
probably benign |
Het |
Gal3st2b |
T |
A |
1: 93,868,505 (GRCm39) |
D243E |
probably damaging |
Het |
Gm5422 |
A |
G |
10: 31,125,802 (GRCm39) |
|
noncoding transcript |
Het |
Gucy1a2 |
A |
G |
9: 3,533,052 (GRCm39) |
N84D |
probably damaging |
Het |
Hsd3b5 |
A |
C |
3: 98,529,393 (GRCm39) |
V79G |
probably damaging |
Het |
Htr6 |
A |
T |
4: 138,788,804 (GRCm39) |
V417E |
probably benign |
Het |
Ifnar2 |
G |
A |
16: 91,188,755 (GRCm39) |
V79I |
probably benign |
Het |
Ighv10-1 |
T |
C |
12: 114,443,102 (GRCm39) |
|
probably benign |
Het |
Itpr2 |
A |
G |
6: 146,081,788 (GRCm39) |
F182L |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lama3 |
A |
G |
18: 12,540,551 (GRCm39) |
Y285C |
probably damaging |
Het |
Lamc2 |
C |
A |
1: 153,034,680 (GRCm39) |
V108L |
possibly damaging |
Het |
Lrrc14b |
A |
G |
13: 74,509,373 (GRCm39) |
|
probably null |
Het |
Magi3 |
T |
C |
3: 103,958,493 (GRCm39) |
T531A |
probably benign |
Het |
Mapre2 |
A |
G |
18: 23,966,011 (GRCm39) |
Y32C |
probably damaging |
Het |
Med1 |
C |
T |
11: 98,046,452 (GRCm39) |
|
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Nt5el |
C |
A |
13: 105,218,749 (GRCm39) |
Q28K |
probably benign |
Het |
Or10a3b |
A |
C |
7: 108,445,064 (GRCm39) |
L51R |
probably damaging |
Het |
Or51h1 |
A |
G |
7: 102,308,408 (GRCm39) |
I127V |
probably damaging |
Het |
Or5h23 |
G |
A |
16: 58,906,408 (GRCm39) |
T146I |
probably benign |
Het |
Or7a35 |
A |
T |
10: 78,853,239 (GRCm39) |
I28L |
probably benign |
Het |
Pde1b |
A |
G |
15: 103,430,099 (GRCm39) |
T143A |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,593,121 (GRCm39) |
D1664G |
probably benign |
Het |
Plod3 |
C |
T |
5: 137,017,847 (GRCm39) |
R208W |
probably damaging |
Het |
Pstk |
G |
A |
7: 130,986,271 (GRCm39) |
A277T |
possibly damaging |
Het |
Qrich1 |
T |
C |
9: 108,411,684 (GRCm39) |
V403A |
probably damaging |
Het |
Rad21 |
C |
A |
15: 51,833,436 (GRCm39) |
V348F |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,448,181 (GRCm39) |
L3409* |
probably null |
Het |
Setd4 |
T |
A |
16: 93,390,136 (GRCm39) |
K98* |
probably null |
Het |
Skint5 |
A |
G |
4: 113,341,123 (GRCm39) |
V1385A |
probably benign |
Het |
Stx2 |
A |
G |
5: 129,069,289 (GRCm39) |
F141L |
probably damaging |
Het |
Tia1 |
A |
G |
6: 86,397,330 (GRCm39) |
D101G |
probably damaging |
Het |
Ttc21a |
T |
A |
9: 119,783,228 (GRCm39) |
|
probably null |
Het |
Usp34 |
T |
A |
11: 23,410,651 (GRCm39) |
N2700K |
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 |
|
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'- CCGTGAATGAAGCCTTGCTTGAAAG -3'
(R):5'- TCAGCGGAAATATGCCACCAAGAG -3'
Sequencing Primer
(F):5'- gcctccatccaacactctac -3'
(R):5'- AGTCCTATAGCAGAGCCTTCTGAG -3'
|
Posted On |
2014-04-24 |