Incidental Mutation 'IGL01714:St5'
| ID |
104873 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
St5
|
| Ensembl Gene |
ENSMUSG00000031024 |
| Gene Name |
suppression of tumorigenicity 5 |
| Synonyms |
2610305K15Rik, 2010004M01Rik |
| Accession Numbers |
|
| Is this an essential gene? |
Possibly non essential
(E-score: 0.430)
|
| Stock # |
IGL01714
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
109523911-109703605 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109570062 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 9
(S9P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077909]
[ENSMUST00000079282]
[ENSMUST00000084738]
[ENSMUST00000168005]
[ENSMUST00000207394]
[ENSMUST00000207745]
[ENSMUST00000208583]
[ENSMUST00000208734]
|
| AlphaFold |
Q924W7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077909
AA Change: S9P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077067
Gene: ENSMUSG00000031024
AA Change: S9P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
656 |
N/A |
INTRINSIC |
|
uDENN
|
690 |
781 |
1.16e-30 |
SMART |
|
DENN
|
788 |
972 |
7.84e-78 |
SMART |
|
low complexity region
|
1007 |
1014 |
N/A |
INTRINSIC |
|
dDENN
|
1019 |
1086 |
3.12e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079282
AA Change: S9P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078264
Gene: ENSMUSG00000031024
AA Change: S9P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
656 |
N/A |
INTRINSIC |
|
uDENN
|
690 |
781 |
1.16e-30 |
SMART |
|
DENN
|
788 |
972 |
7.84e-78 |
SMART |
|
low complexity region
|
1007 |
1014 |
N/A |
INTRINSIC |
|
dDENN
|
1019 |
1086 |
3.12e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084738
AA Change: S9P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000081789
Gene: ENSMUSG00000031024
AA Change: S9P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
160 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
239 |
N/A |
INTRINSIC |
|
uDENN
|
273 |
364 |
1.16e-30 |
SMART |
|
DENN
|
371 |
555 |
7.84e-78 |
SMART |
|
low complexity region
|
590 |
597 |
N/A |
INTRINSIC |
|
dDENN
|
602 |
669 |
3.12e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168005
AA Change: S9P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130119
Gene: ENSMUSG00000031024
AA Change: S9P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
160 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
239 |
N/A |
INTRINSIC |
|
uDENN
|
273 |
364 |
1.16e-30 |
SMART |
|
DENN
|
371 |
555 |
7.84e-78 |
SMART |
|
low complexity region
|
590 |
597 |
N/A |
INTRINSIC |
|
dDENN
|
602 |
669 |
3.12e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207394
AA Change: S9P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207745
AA Change: S9P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208557
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208583
AA Change: S9P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208734
AA Change: S9P
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208981
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
T |
C |
8: 72,455,569 |
|
probably null |
Het |
| Acvrl1 |
T |
A |
15: 101,137,370 |
I259N |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,795,877 |
S59P |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,384,182 |
|
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 58,029,870 |
N682S |
possibly damaging |
Het |
| Celf1 |
T |
C |
2: 91,009,207 |
S326P |
possibly damaging |
Het |
| Cntn1 |
T |
A |
15: 92,253,989 |
C436* |
probably null |
Het |
| Cyp2d40 |
T |
G |
15: 82,761,240 |
D142A |
possibly damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,720,942 |
L4525F |
probably damaging |
Het |
| Drosha |
A |
G |
15: 12,878,784 |
Y732C |
probably damaging |
Het |
| Edn1 |
A |
G |
13: 42,305,014 |
N101S |
probably benign |
Het |
| Faxc |
C |
T |
4: 21,936,688 |
P108S |
probably damaging |
Het |
| Glb1l2 |
C |
T |
9: 26,768,418 |
|
probably null |
Het |
| Gm20498 |
A |
G |
12: 81,510,890 |
I47T |
probably damaging |
Het |
| Gm4952 |
G |
T |
19: 12,624,711 |
R161L |
probably benign |
Het |
| Hipk2 |
A |
T |
6: 38,819,182 |
Y51N |
probably damaging |
Het |
| Id4 |
T |
G |
13: 48,261,790 |
I98S |
probably damaging |
Het |
| Klf6 |
T |
C |
13: 5,866,659 |
S268P |
probably benign |
Het |
| Kmt2c |
G |
T |
5: 25,313,400 |
T2427N |
probably benign |
Het |
| Lrp3 |
T |
G |
7: 35,206,071 |
|
probably null |
Het |
| Lrrc66 |
A |
G |
5: 73,629,977 |
I10T |
probably benign |
Het |
| Mapkap1 |
T |
G |
2: 34,518,843 |
V281G |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,334,584 |
I1054F |
possibly damaging |
Het |
| Olfr1061 |
T |
C |
2: 86,413,800 |
N84S |
probably benign |
Het |
| Ppp1r9b |
C |
A |
11: 95,005,354 |
T817N |
probably damaging |
Het |
| Prkd2 |
T |
A |
7: 16,863,942 |
I659N |
probably damaging |
Het |
| Radil |
T |
C |
5: 142,543,397 |
|
probably benign |
Het |
| Smarcd1 |
C |
T |
15: 99,712,421 |
T474I |
probably damaging |
Het |
| Srd5a1 |
C |
T |
13: 69,611,062 |
W62* |
probably null |
Het |
| St6galnac2 |
C |
T |
11: 116,685,119 |
D169N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,857,179 |
|
probably benign |
Het |
| Vmn1r77 |
A |
T |
7: 12,041,350 |
I18F |
probably benign |
Het |
| Xrcc5 |
A |
T |
1: 72,329,984 |
K332N |
probably damaging |
Het |
|
| Other mutations in St5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:St5
|
APN |
7 |
109527708 |
missense |
possibly damaging |
0.71 |
|
IGL01132:St5
|
APN |
7 |
109570005 |
splice site |
probably null |
|
|
IGL01288:St5
|
APN |
7 |
109539822 |
missense |
probably damaging |
0.96 |
|
IGL01645:St5
|
APN |
7 |
109527634 |
nonsense |
probably null |
|
|
IGL02021:St5
|
APN |
7 |
109557372 |
missense |
probably damaging |
1.00 |
|
IGL02302:St5
|
APN |
7 |
109525331 |
missense |
probably damaging |
1.00 |
|
IGL02496:St5
|
APN |
7 |
109556235 |
missense |
possibly damaging |
0.83 |
|
IGL02795:St5
|
APN |
7 |
109556364 |
missense |
probably damaging |
1.00 |
|
Bucolic
|
UTSW |
7 |
109525548 |
nonsense |
probably null |
|
|
Halcyon
|
UTSW |
7 |
109556793 |
nonsense |
probably null |
|
|
FR4340:St5
|
UTSW |
7 |
109556921 |
unclassified |
probably benign |
|
|
FR4737:St5
|
UTSW |
7 |
109556921 |
unclassified |
probably benign |
|
|
PIT4466001:St5
|
UTSW |
7 |
109531130 |
missense |
probably damaging |
1.00 |
|
PIT4469001:St5
|
UTSW |
7 |
109531130 |
missense |
probably damaging |
1.00 |
|
PIT4472001:St5
|
UTSW |
7 |
109531130 |
missense |
probably damaging |
1.00 |
|
R0024:St5
|
UTSW |
7 |
109524659 |
missense |
probably damaging |
1.00 |
|
R0124:St5
|
UTSW |
7 |
109542511 |
missense |
possibly damaging |
0.66 |
|
R0125:St5
|
UTSW |
7 |
109556338 |
missense |
probably benign |
0.19 |
|
R0365:St5
|
UTSW |
7 |
109538949 |
missense |
probably damaging |
1.00 |
|
R0491:St5
|
UTSW |
7 |
109557204 |
missense |
probably benign |
0.45 |
|
R0534:St5
|
UTSW |
7 |
109541428 |
missense |
probably damaging |
1.00 |
|
R0662:St5
|
UTSW |
7 |
109557426 |
missense |
probably damaging |
1.00 |
|
R0743:St5
|
UTSW |
7 |
109557345 |
missense |
probably damaging |
1.00 |
|
R0772:St5
|
UTSW |
7 |
109542320 |
splice site |
probably null |
|
|
R0774:St5
|
UTSW |
7 |
109542320 |
splice site |
probably null |
|
|
R0787:St5
|
UTSW |
7 |
109525620 |
missense |
possibly damaging |
0.94 |
|
R0884:St5
|
UTSW |
7 |
109557345 |
missense |
probably damaging |
1.00 |
|
R1518:St5
|
UTSW |
7 |
109557355 |
missense |
probably damaging |
1.00 |
|
R1908:St5
|
UTSW |
7 |
109525326 |
nonsense |
probably null |
|
|
R1909:St5
|
UTSW |
7 |
109525326 |
nonsense |
probably null |
|
|
R2232:St5
|
UTSW |
7 |
109557207 |
missense |
probably benign |
|
|
R2358:St5
|
UTSW |
7 |
109556446 |
missense |
probably benign |
0.01 |
|
R2847:St5
|
UTSW |
7 |
109525337 |
missense |
probably damaging |
1.00 |
|
R2869:St5
|
UTSW |
7 |
109557430 |
missense |
probably benign |
0.01 |
|
R2869:St5
|
UTSW |
7 |
109557430 |
missense |
probably benign |
0.01 |
|
R2870:St5
|
UTSW |
7 |
109557430 |
missense |
probably benign |
0.01 |
|
R2870:St5
|
UTSW |
7 |
109557430 |
missense |
probably benign |
0.01 |
|
R2871:St5
|
UTSW |
7 |
109557430 |
missense |
probably benign |
0.01 |
|
R2871:St5
|
UTSW |
7 |
109557430 |
missense |
probably benign |
0.01 |
|
R2873:St5
|
UTSW |
7 |
109557430 |
missense |
probably benign |
0.01 |
|
R2874:St5
|
UTSW |
7 |
109557430 |
missense |
probably benign |
0.01 |
|
R4534:St5
|
UTSW |
7 |
109531156 |
missense |
probably damaging |
1.00 |
|
R4536:St5
|
UTSW |
7 |
109531156 |
missense |
probably damaging |
1.00 |
|
R4559:St5
|
UTSW |
7 |
109525578 |
missense |
probably damaging |
1.00 |
|
R4798:St5
|
UTSW |
7 |
109557033 |
missense |
probably damaging |
0.99 |
|
R4846:St5
|
UTSW |
7 |
109556836 |
nonsense |
probably null |
|
|
R5110:St5
|
UTSW |
7 |
109542490 |
missense |
probably benign |
0.02 |
|
R5181:St5
|
UTSW |
7 |
109556790 |
missense |
probably benign |
|
|
R5268:St5
|
UTSW |
7 |
109557312 |
missense |
probably benign |
|
|
R5403:St5
|
UTSW |
7 |
109556905 |
missense |
probably damaging |
1.00 |
|
R5836:St5
|
UTSW |
7 |
109541345 |
missense |
possibly damaging |
0.78 |
|
R5932:St5
|
UTSW |
7 |
109570016 |
missense |
probably damaging |
1.00 |
|
R5937:St5
|
UTSW |
7 |
109557271 |
missense |
possibly damaging |
0.86 |
|
R6180:St5
|
UTSW |
7 |
109556888 |
missense |
probably benign |
0.11 |
|
R6741:St5
|
UTSW |
7 |
109545097 |
missense |
possibly damaging |
0.95 |
|
R6781:St5
|
UTSW |
7 |
109525304 |
missense |
possibly damaging |
0.83 |
|
R7086:St5
|
UTSW |
7 |
109525574 |
missense |
probably damaging |
1.00 |
|
R7466:St5
|
UTSW |
7 |
109525346 |
missense |
probably damaging |
1.00 |
|
R7644:St5
|
UTSW |
7 |
109556793 |
nonsense |
probably null |
|
|
R8354:St5
|
UTSW |
7 |
109525548 |
nonsense |
probably null |
|
|
R8745:St5
|
UTSW |
7 |
109557072 |
missense |
probably benign |
0.02 |
|
R8859:St5
|
UTSW |
7 |
109524656 |
missense |
probably damaging |
1.00 |
|
R9016:St5
|
UTSW |
7 |
109540435 |
missense |
possibly damaging |
0.84 |
|
R9178:St5
|
UTSW |
7 |
109557084 |
missense |
probably benign |
0.31 |
|
R9361:St5
|
UTSW |
7 |
109527784 |
missense |
probably damaging |
1.00 |
|
R9564:St5
|
UTSW |
7 |
109526329 |
missense |
probably damaging |
1.00 |
|
R9595:St5
|
UTSW |
7 |
109556766 |
missense |
probably damaging |
0.96 |
|
RF062:St5
|
UTSW |
7 |
109556946 |
unclassified |
probably benign |
|
|
X0067:St5
|
UTSW |
7 |
109556240 |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation