Incidental Mutation 'R9435:Stam'
| ID |
713212 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R9435 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
14078910-14153296 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14120801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 72
(C72S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028050]
[ENSMUST00000102960]
[ENSMUST00000138989]
[ENSMUST00000193636]
|
| AlphaFold |
P70297 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028050
AA Change: C72S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028050
Gene: ENSMUSG00000026718
AA Change: C72S
| 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 damaging
Transcript: ENSMUST00000102960
AA Change: C72S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100025
Gene: ENSMUSG00000026718
AA Change: C72S
| 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 damaging
Transcript: ENSMUST00000138989
AA Change: C69S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121228
Gene: ENSMUSG00000026718
AA Change: C69S
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
4 |
136 |
1.76e-59 |
SMART |
|
UIM
|
168 |
187 |
1.6e-2 |
SMART |
|
| 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 |
100% (58/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,382,562 (GRCm39) |
D1134E |
probably benign |
Het |
| Abca5 |
C |
T |
11: 110,182,911 (GRCm39) |
|
probably null |
Het |
| Acp2 |
A |
G |
2: 91,036,409 (GRCm39) |
T169A |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,622,429 (GRCm39) |
N932K |
probably benign |
Het |
| Aldh5a1 |
G |
A |
13: 25,121,293 (GRCm39) |
R87C |
probably damaging |
Het |
| Bpifa1 |
G |
T |
2: 153,985,843 (GRCm39) |
A53S |
unknown |
Het |
| Cacna2d2 |
T |
C |
9: 107,396,384 (GRCm39) |
I667T |
probably benign |
Het |
| Catsperg1 |
T |
A |
7: 28,889,751 (GRCm39) |
T784S |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
| Cd46 |
C |
G |
1: 194,767,720 (GRCm39) |
D114H |
probably damaging |
Het |
| Cd82 |
A |
T |
2: 93,267,740 (GRCm39) |
L19Q |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,806,535 (GRCm39) |
|
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,961,885 (GRCm39) |
I180T |
possibly damaging |
Het |
| Drg2 |
T |
C |
11: 60,358,966 (GRCm39) |
V362A |
probably benign |
Het |
| Eef2 |
T |
A |
10: 81,014,994 (GRCm39) |
M231K |
probably benign |
Het |
| Egr2 |
T |
C |
10: 67,375,628 (GRCm39) |
Y75H |
probably damaging |
Het |
| Exoc6 |
A |
C |
19: 37,585,545 (GRCm39) |
Q473H |
probably benign |
Het |
| Focad |
T |
A |
4: 88,267,076 (GRCm39) |
M1029K |
unknown |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,391 (GRCm39) |
S133T |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,268,432 (GRCm39) |
V1322A |
probably benign |
Het |
| Gm572 |
T |
C |
4: 148,752,966 (GRCm39) |
S282P |
possibly damaging |
Het |
| Gm7579 |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
7: 141,765,782 (GRCm39) |
|
probably benign |
Het |
| Golph3l |
T |
C |
3: 95,496,369 (GRCm39) |
V31A |
probably benign |
Het |
| Iars2 |
A |
T |
1: 185,034,913 (GRCm39) |
V610D |
probably damaging |
Het |
| Igsf6 |
T |
A |
7: 120,666,472 (GRCm39) |
I203F |
probably damaging |
Het |
| Ildr2 |
A |
G |
1: 166,136,691 (GRCm39) |
Y510C |
probably damaging |
Het |
| Iqcf4 |
C |
A |
9: 106,445,652 (GRCm39) |
R165L |
possibly damaging |
Het |
| Itgb1bp1 |
T |
G |
12: 21,320,943 (GRCm39) |
I183L |
possibly damaging |
Het |
| Itgb4 |
A |
C |
11: 115,895,855 (GRCm39) |
S1414R |
probably benign |
Het |
| Kbtbd7 |
G |
T |
14: 79,664,944 (GRCm39) |
A259S |
probably benign |
Het |
| Kif14 |
T |
A |
1: 136,401,174 (GRCm39) |
D508E |
possibly damaging |
Het |
| Klc2 |
A |
T |
19: 5,159,662 (GRCm39) |
D484E |
possibly damaging |
Het |
| Lamc2 |
T |
C |
1: 153,013,072 (GRCm39) |
S630G |
probably benign |
Het |
| Myl6b |
G |
A |
10: 128,331,066 (GRCm39) |
T125M |
possibly damaging |
Het |
| Nbea |
T |
A |
3: 55,943,309 (GRCm39) |
K655N |
possibly damaging |
Het |
| Nkx3-2 |
T |
C |
5: 41,919,493 (GRCm39) |
D165G |
probably benign |
Het |
| Npy |
A |
T |
6: 49,804,481 (GRCm39) |
R67S |
probably damaging |
Het |
| Nrg3 |
A |
T |
14: 39,194,556 (GRCm39) |
C68S |
possibly damaging |
Het |
| Nup160 |
C |
T |
2: 90,560,138 (GRCm39) |
P1288S |
probably damaging |
Het |
| Or52e15 |
T |
C |
7: 104,645,946 (GRCm39) |
H55R |
probably benign |
Het |
| Or8g33 |
A |
G |
9: 39,337,506 (GRCm39) |
L287P |
probably benign |
Het |
| Pam |
T |
A |
1: 97,822,144 (GRCm39) |
I287L |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,165,387 (GRCm39) |
R490G |
probably benign |
Het |
| Prim2 |
T |
C |
1: 33,523,876 (GRCm39) |
Y345C |
probably damaging |
Het |
| Ptchd3 |
C |
T |
11: 121,721,646 (GRCm39) |
A173V |
probably benign |
Het |
| Rab8b |
G |
A |
9: 66,755,912 (GRCm39) |
R167W |
probably damaging |
Het |
| S100a3 |
A |
G |
3: 90,509,502 (GRCm39) |
E49G |
probably benign |
Het |
| Slc41a1 |
T |
A |
1: 131,766,896 (GRCm39) |
V138E |
probably damaging |
Het |
| Slit1 |
C |
A |
19: 41,591,764 (GRCm39) |
|
probably null |
Het |
| Sntg1 |
T |
A |
1: 8,433,814 (GRCm39) |
H479L |
probably damaging |
Het |
| Sval2 |
G |
T |
6: 41,840,795 (GRCm39) |
A93S |
probably benign |
Het |
| Tas2r103 |
T |
A |
6: 133,013,686 (GRCm39) |
K127* |
probably null |
Het |
| Trank1 |
C |
T |
9: 111,193,890 (GRCm39) |
T638M |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,519,173 (GRCm39) |
I2260F |
probably damaging |
Het |
| Zfp268 |
G |
C |
4: 145,349,045 (GRCm39) |
E161Q |
|
Het |
| Zfp280d |
T |
C |
9: 72,226,599 (GRCm39) |
|
probably null |
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 |
14,151,096 (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 |
|
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'- AGACCTAAAGATTGTCTTCGTTCC -3'
(R):5'- TGTAGTCTTTTCAAGGAAACGCAG -3'
Sequencing Primer
(F):5'- CGTTCCATTATGAGAAGAGTGAACC -3'
(R):5'- ACGCAGTTCTTACAGTCTAGG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation