Incidental Mutation 'R5636:Stam'
| ID |
440350 |
| 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 |
043287-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R5636 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
14078910-14153296 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 14122238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 112
(M112I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028050]
[ENSMUST00000102960]
[ENSMUST00000138989]
[ENSMUST00000193636]
|
| AlphaFold |
P70297 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028050
AA Change: M112I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028050
Gene: ENSMUSG00000026718
AA Change: M112I
| 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: M112I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000100025
Gene: ENSMUSG00000026718
AA Change: M112I
| 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 |
possibly damaging
Transcript: ENSMUST00000138989
AA Change: M109I
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000121228
Gene: ENSMUSG00000026718
AA Change: M109I
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,922,382 (GRCm39) |
Q448* |
probably null |
Het |
| Abca5 |
A |
G |
11: 110,192,362 (GRCm39) |
Y717H |
probably benign |
Het |
| Abcg2 |
T |
A |
6: 58,649,041 (GRCm39) |
D295E |
probably damaging |
Het |
| Accsl |
C |
T |
2: 93,699,370 (GRCm39) |
E7K |
probably benign |
Het |
| Acvr2b |
A |
G |
9: 119,257,375 (GRCm39) |
Y152C |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,354,120 (GRCm39) |
E1747G |
probably damaging |
Het |
| Arpp19 |
C |
T |
9: 74,945,215 (GRCm39) |
|
probably benign |
Het |
| Atp10d |
A |
G |
5: 72,445,562 (GRCm39) |
Y74C |
probably damaging |
Het |
| Atp6v0b |
T |
C |
4: 117,743,582 (GRCm39) |
|
probably benign |
Het |
| Bms1 |
C |
A |
6: 118,365,786 (GRCm39) |
M1133I |
probably benign |
Het |
| Bysl |
A |
C |
17: 47,913,648 (GRCm39) |
D259E |
probably benign |
Het |
| Capn1 |
A |
T |
19: 6,064,472 (GRCm39) |
V9E |
probably benign |
Het |
| Cdkl2 |
T |
C |
5: 92,181,601 (GRCm39) |
I127V |
probably benign |
Het |
| Cyp2c38 |
G |
A |
19: 39,426,750 (GRCm39) |
Q184* |
probably null |
Het |
| Cypt12 |
C |
T |
3: 18,002,749 (GRCm39) |
R41C |
probably benign |
Het |
| Dnaaf11 |
A |
T |
15: 66,372,665 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,173,307 (GRCm39) |
I2469V |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,644,089 (GRCm39) |
V923A |
possibly damaging |
Het |
| Gm13889 |
A |
G |
2: 93,787,031 (GRCm39) |
C148R |
probably damaging |
Het |
| Gpd1 |
A |
T |
15: 99,619,939 (GRCm39) |
T223S |
probably benign |
Het |
| Hcrtr1 |
C |
A |
4: 130,024,738 (GRCm39) |
G383C |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,316,932 (GRCm39) |
P2047S |
possibly damaging |
Het |
| Islr2 |
T |
C |
9: 58,108,584 (GRCm39) |
T35A |
probably benign |
Het |
| Lgr6 |
T |
C |
1: 134,914,816 (GRCm39) |
D644G |
probably benign |
Het |
| Mdn1 |
C |
T |
4: 32,695,480 (GRCm39) |
T1173I |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,778,439 (GRCm39) |
V221A |
probably damaging |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,218 (GRCm39) |
C237R |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,836,687 (GRCm39) |
M264T |
probably damaging |
Het |
| Naxd |
A |
G |
8: 11,552,676 (GRCm39) |
N32S |
probably benign |
Het |
| Nlrp12 |
A |
T |
7: 3,273,926 (GRCm39) |
L1010Q |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,885,637 (GRCm39) |
K755* |
probably null |
Het |
| Or2av9 |
T |
C |
11: 58,380,877 (GRCm39) |
K235E |
probably damaging |
Het |
| Or9i2 |
C |
T |
19: 13,815,701 (GRCm39) |
V279M |
possibly damaging |
Het |
| Pik3ca |
G |
A |
3: 32,515,709 (GRCm39) |
R794Q |
probably damaging |
Het |
| Pnp2 |
A |
G |
14: 51,193,649 (GRCm39) |
|
probably null |
Het |
| Ric3 |
G |
A |
7: 108,638,027 (GRCm39) |
T242I |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,327,731 (GRCm39) |
Q1906P |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,327,455 (GRCm39) |
R1814K |
probably benign |
Het |
| Rufy2 |
T |
A |
10: 62,833,733 (GRCm39) |
I265N |
probably damaging |
Het |
| Scap |
G |
T |
9: 110,209,662 (GRCm39) |
G744C |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,202,744 (GRCm39) |
Q88R |
possibly damaging |
Het |
| Sf3b1 |
T |
C |
1: 55,036,352 (GRCm39) |
D907G |
probably damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc4a3 |
C |
T |
1: 75,530,860 (GRCm39) |
L749F |
possibly damaging |
Het |
| Smtn |
T |
G |
11: 3,467,829 (GRCm39) |
|
probably null |
Het |
| Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,887,885 (GRCm39) |
|
probably benign |
Het |
| Tex35 |
C |
T |
1: 156,927,794 (GRCm39) |
W125* |
probably null |
Het |
| Tmem215 |
A |
G |
4: 40,474,394 (GRCm39) |
E157G |
probably damaging |
Het |
| Traf6 |
G |
A |
2: 101,527,254 (GRCm39) |
V335M |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 37,984,240 (GRCm39) |
K2302N |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,603,637 (GRCm39) |
H605R |
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 |
|
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'- ATCCCATCATTCTGATTTCTGGAG -3'
(R):5'- GTTATCCGTAAACCATGCTATAGC -3'
Sequencing Primer
(F):5'- GTACCTGTTAAATGAGATGTAGGC -3'
(R):5'- GCTGGGAATGTTACACCT -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation