Incidental Mutation 'R5139:St13'
| ID |
396368 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St13
|
| Ensembl Gene |
ENSMUSG00000022403 |
| Gene Name |
suppression of tumorigenicity 13 |
| Synonyms |
3110002K08Rik, HSPABP1, PRO0786, SNC6, 1110007I03Rik, p48, Hsp70 interacting protein |
| MMRRC Submission |
042725-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
R5139 (G1)
|
| Quality Score |
148 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
81247870-81284278 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 81283786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 4
(R4G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023039]
[ENSMUST00000041609]
[ENSMUST00000163382]
[ENSMUST00000163754]
[ENSMUST00000165258]
[ENSMUST00000172107]
[ENSMUST00000167799]
[ENSMUST00000165582]
[ENSMUST00000169204]
|
| AlphaFold |
Q99L47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023039
AA Change: R4G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000023039
Gene: ENSMUSG00000022403
AA Change: R4G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4J8C|B
|
1 |
44 |
6e-25 |
PDB |
|
low complexity region
|
52 |
72 |
N/A |
INTRINSIC |
|
TPR
|
104 |
137 |
1.2e1 |
SMART |
|
TPR
|
138 |
171 |
6.95e-4 |
SMART |
|
TPR
|
172 |
205 |
4.8e1 |
SMART |
|
coiled coil region
|
225 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
305 |
N/A |
INTRINSIC |
|
STI1
|
312 |
351 |
3.37e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041609
|
| SMART Domains |
Protein: ENSMUSP00000038331
Gene: ENSMUSG00000022401
| Domain | Start | End | E-Value | Type |
|---|
|
AMP_N
|
67 |
213 |
6.36e-54 |
SMART |
|
Pfam:Peptidase_M24
|
253 |
366 |
1.8e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163296
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163382
AA Change: R4G
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000131502
Gene: ENSMUSG00000022403
AA Change: R4G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4J8C|B
|
1 |
44 |
2e-27 |
PDB |
|
low complexity region
|
52 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163754
|
| SMART Domains |
Protein: ENSMUSP00000132822
Gene: ENSMUSG00000022401
| Domain | Start | End | E-Value | Type |
|---|
|
AMP_N
|
67 |
213 |
6.36e-54 |
SMART |
|
Pfam:Peptidase_M24
|
253 |
481 |
1.1e-57 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164144
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165258
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172107
AA Change: R4G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000130195
Gene: ENSMUSG00000022403
AA Change: R4G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4J8C|B
|
1 |
44 |
6e-25 |
PDB |
|
low complexity region
|
52 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
81 |
N/A |
INTRINSIC |
|
TPR
|
113 |
146 |
1.2e1 |
SMART |
|
TPR
|
147 |
180 |
6.95e-4 |
SMART |
|
TPR
|
181 |
214 |
4.8e1 |
SMART |
|
coiled coil region
|
234 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
314 |
N/A |
INTRINSIC |
|
STI1
|
321 |
360 |
3.37e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166831
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167799
|
| SMART Domains |
Protein: ENSMUSP00000126038
Gene: ENSMUSG00000022401
| Domain | Start | End | E-Value | Type |
|---|
|
AMP_N
|
67 |
203 |
6.87e-50 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165582
|
| SMART Domains |
Protein: ENSMUSP00000129966
Gene: ENSMUSG00000022403
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
44 |
N/A |
INTRINSIC |
|
Pfam:TPR_11
|
74 |
129 |
6.8e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169204
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230906
|
| Meta Mutation Damage Score |
0.1302 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
C |
4: 148,029,905 (GRCm39) |
L625P |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,648,027 (GRCm39) |
S598P |
probably damaging |
Het |
| Ahnak |
A |
C |
19: 8,982,019 (GRCm39) |
D1101A |
probably damaging |
Het |
| Aoah |
T |
C |
13: 21,207,407 (GRCm39) |
V542A |
possibly damaging |
Het |
| Aox1 |
T |
C |
1: 58,100,456 (GRCm39) |
S418P |
probably benign |
Het |
| Appl1 |
A |
G |
14: 26,669,112 (GRCm39) |
I354T |
probably benign |
Het |
| BC035947 |
T |
C |
1: 78,475,884 (GRCm39) |
E216G |
possibly damaging |
Het |
| Bnip3l |
A |
G |
14: 67,237,064 (GRCm39) |
S63P |
probably damaging |
Het |
| Cckar |
T |
C |
5: 53,860,265 (GRCm39) |
N188S |
probably benign |
Het |
| Ccl24 |
C |
T |
5: 135,601,775 (GRCm39) |
A18T |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,232,569 (GRCm39) |
C840R |
probably benign |
Het |
| Copa |
C |
T |
1: 171,948,896 (GRCm39) |
R1183W |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,876,024 (GRCm39) |
V2621A |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,248,061 (GRCm39) |
Y1019H |
probably damaging |
Het |
| Hira |
T |
C |
16: 18,773,508 (GRCm39) |
Y943H |
probably damaging |
Het |
| Ighv3-8 |
T |
C |
12: 114,285,994 (GRCm39) |
Y116C |
probably damaging |
Het |
| Igkv4-70 |
G |
A |
6: 69,245,089 (GRCm39) |
T44I |
probably damaging |
Het |
| Lce3c |
G |
A |
3: 92,852,778 (GRCm39) |
G80S |
unknown |
Het |
| Ldhb |
A |
T |
6: 142,439,921 (GRCm39) |
N206K |
probably damaging |
Het |
| Mical1 |
T |
A |
10: 41,354,411 (GRCm39) |
|
probably null |
Het |
| Myh2 |
T |
C |
11: 67,070,174 (GRCm39) |
L402P |
probably damaging |
Het |
| Naa15 |
T |
A |
3: 51,351,261 (GRCm39) |
L144I |
probably damaging |
Het |
| Nbea |
T |
A |
3: 55,534,384 (GRCm39) |
I2918F |
possibly damaging |
Het |
| Or5w11 |
C |
A |
2: 87,459,000 (GRCm39) |
H64Q |
probably benign |
Het |
| Pdcd11 |
C |
A |
19: 47,095,554 (GRCm39) |
S625R |
probably benign |
Het |
| Pdlim7 |
A |
G |
13: 55,654,869 (GRCm39) |
S214P |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,099,773 (GRCm39) |
D49G |
probably damaging |
Het |
| Polr2f |
C |
A |
15: 79,035,858 (GRCm39) |
D106E |
possibly damaging |
Het |
| Ppp6r3 |
A |
C |
19: 3,514,610 (GRCm39) |
N766K |
probably damaging |
Het |
| Prl8a1 |
T |
A |
13: 27,758,049 (GRCm39) |
D220V |
probably damaging |
Het |
| Qrfprl |
A |
T |
6: 65,433,203 (GRCm39) |
N341I |
probably damaging |
Het |
| Septin9 |
A |
G |
11: 117,247,511 (GRCm39) |
K497E |
possibly damaging |
Het |
| Sfswap |
T |
G |
5: 129,648,073 (GRCm39) |
M927R |
possibly damaging |
Het |
| Smad9 |
T |
G |
3: 54,704,827 (GRCm39) |
W400G |
possibly damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
| Tesmin |
A |
G |
19: 3,456,934 (GRCm39) |
I238V |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,100,133 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
A |
T |
3: 36,725,706 (GRCm39) |
M90K |
possibly damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,450 (GRCm39) |
T813I |
probably benign |
Het |
| Tub |
T |
A |
7: 108,610,309 (GRCm39) |
M1K |
probably null |
Het |
| Wdfy3 |
A |
T |
5: 101,997,133 (GRCm39) |
|
probably null |
Het |
| Zfp853 |
T |
C |
5: 143,274,570 (GRCm39) |
Q350R |
unknown |
Het |
|
| Other mutations in St13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01647:St13
|
APN |
15 |
81,255,708 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01933:St13
|
APN |
15 |
81,273,899 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02152:St13
|
APN |
15 |
81,250,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0714:St13
|
UTSW |
15 |
81,267,228 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3417:St13
|
UTSW |
15 |
81,253,651 (GRCm39) |
splice site |
probably benign |
|
|
R4845:St13
|
UTSW |
15 |
81,283,786 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4925:St13
|
UTSW |
15 |
81,283,786 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4934:St13
|
UTSW |
15 |
81,283,786 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5029:St13
|
UTSW |
15 |
81,283,786 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5042:St13
|
UTSW |
15 |
81,249,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5048:St13
|
UTSW |
15 |
81,283,786 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5970:St13
|
UTSW |
15 |
81,261,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6158:St13
|
UTSW |
15 |
81,283,802 (GRCm39) |
splice site |
probably null |
|
|
R6175:St13
|
UTSW |
15 |
81,283,506 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6872:St13
|
UTSW |
15 |
81,250,547 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7320:St13
|
UTSW |
15 |
81,273,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7912:St13
|
UTSW |
15 |
81,283,719 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9258:St13
|
UTSW |
15 |
81,272,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9281:St13
|
UTSW |
15 |
81,261,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9442:St13
|
UTSW |
15 |
81,272,575 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9483:St13
|
UTSW |
15 |
81,250,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9549:St13
|
UTSW |
15 |
81,259,063 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
X0065:St13
|
UTSW |
15 |
81,250,637 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCGAAGCCACTAAGAGCC -3'
(R):5'- ACGGGCAGCTACACTTCTAG -3'
Sequencing Primer
(F):5'- CACGAAGGGGCCTAGAACC -3'
(R):5'- GGCAGCTACACTTCTAGAAGGTTC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation