Incidental Mutation 'R0774:St5'
ID |
99105 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
St5
|
Ensembl Gene |
ENSMUSG00000031024 |
Gene Name |
suppression of tumorigenicity 5 |
Synonyms |
2610305K15Rik, 2010004M01Rik |
MMRRC Submission |
038954-MU
|
Accession Numbers |
|
Is this an essential gene? |
Possibly non essential
(E-score: 0.430)
|
Stock # |
R0774 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
109523911-109703605 bp(-) (GRCm38) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 109542320 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077909]
[ENSMUST00000077909]
[ENSMUST00000079282]
[ENSMUST00000079282]
[ENSMUST00000084738]
[ENSMUST00000084738]
[ENSMUST00000168005]
[ENSMUST00000168005]
|
AlphaFold |
Q924W7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000077909
|
SMART Domains |
Protein: ENSMUSP00000077067 Gene: ENSMUSG00000031024
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 |
probably null
Transcript: ENSMUST00000077909
|
SMART Domains |
Protein: ENSMUSP00000077067 Gene: ENSMUSG00000031024
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 |
probably null
Transcript: ENSMUST00000079282
|
SMART Domains |
Protein: ENSMUSP00000078264 Gene: ENSMUSG00000031024
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 |
probably null
Transcript: ENSMUST00000079282
|
SMART Domains |
Protein: ENSMUSP00000078264 Gene: ENSMUSG00000031024
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 |
probably null
Transcript: ENSMUST00000084738
|
SMART Domains |
Protein: ENSMUSP00000081789 Gene: ENSMUSG00000031024
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 null
Transcript: ENSMUST00000084738
|
SMART Domains |
Protein: ENSMUSP00000081789 Gene: ENSMUSG00000031024
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 null
Transcript: ENSMUST00000168005
|
SMART Domains |
Protein: ENSMUSP00000130119 Gene: ENSMUSG00000031024
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 null
Transcript: ENSMUST00000168005
|
SMART Domains |
Protein: ENSMUSP00000130119 Gene: ENSMUSG00000031024
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 |
noncoding transcript
Transcript: ENSMUST00000207664
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208557
|
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.8%
- 20x: 91.9%
|
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: 7 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdhr2 |
C |
T |
13: 54,717,855 |
S222F |
probably damaging |
Het |
Leng8 |
T |
A |
7: 4,142,136 |
H178Q |
probably damaging |
Het |
Prl3b1 |
G |
A |
13: 27,243,865 |
A53T |
probably benign |
Het |
Psip1 |
CACTTACT |
CACT |
4: 83,460,452 |
|
probably null |
Het |
Shox2 |
C |
T |
3: 66,973,811 |
A279T |
probably damaging |
Het |
Sis |
T |
C |
3: 72,952,531 |
Q297R |
probably damaging |
Het |
Slc1a6 |
G |
T |
10: 78,812,824 |
V460L |
probably benign |
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 |
|
IGL01714:St5
|
APN |
7 |
109570062 |
missense |
probably damaging |
0.99 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCAAGAGTCATTGAACCAACGGAG -3'
(R):5'- GCCACGATTACCCAAGAGGCATAG -3'
Sequencing Primer
(F):5'- TAAGAGAGTCTCAGCTCAGCTAGTC -3'
(R):5'- CATAGCCATGATGACATGATGC -3'
|
Posted On |
2014-01-10 |