Incidental Mutation 'R5537:Tsg101'
| ID |
434874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsg101
|
| Ensembl Gene |
ENSMUSG00000014402 |
| Gene Name |
tumor susceptibility gene 101 |
| Synonyms |
CC2 |
| MMRRC Submission |
043095-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5537 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
46538697-46569717 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46540876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 294
(K294E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014546]
[ENSMUST00000156335]
[ENSMUST00000209538]
[ENSMUST00000211076]
|
| AlphaFold |
Q61187 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014546
AA Change: K294E
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000014546
Gene: ENSMUSG00000014402
AA Change: K294E
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
22 |
177 |
5.96e-4 |
SMART |
|
PDB:3IV1|H
|
229 |
305 |
1e-43 |
PDB |
|
Pfam:Vps23_core
|
317 |
380 |
2.5e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146130
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156335
|
| SMART Domains |
Protein: ENSMUSP00000120856
Gene: ENSMUSG00000014402
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
51 |
206 |
5.96e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209538
AA Change: K156E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211076
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| 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 belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced growth, fail to form mesoderm, accumulate p53 protein and die by embryonic day 6.5. Homozygotes for a mammary gland-specific knockout show impaired mammogenesis and are unable to nurse their pups. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 9,005,485 (GRCm39) |
I1123F |
probably damaging |
Het |
| Acsl3 |
C |
T |
1: 78,684,073 (GRCm39) |
R702C |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,604,892 (GRCm39) |
E1031G |
probably damaging |
Het |
| Ankle2 |
T |
C |
5: 110,397,361 (GRCm39) |
S536P |
probably damaging |
Het |
| Arfgef2 |
G |
T |
2: 166,698,513 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
G |
T |
2: 118,746,461 (GRCm39) |
D27Y |
probably damaging |
Het |
| Brinp2 |
C |
T |
1: 158,082,583 (GRCm39) |
V246I |
probably damaging |
Het |
| Ccdc187 |
C |
A |
2: 26,166,237 (GRCm39) |
A731S |
probably benign |
Het |
| Cdc37l1 |
T |
A |
19: 28,972,518 (GRCm39) |
N70K |
probably damaging |
Het |
| Cdk5r1 |
A |
G |
11: 80,368,825 (GRCm39) |
Y164C |
probably damaging |
Het |
| Clrn3 |
A |
T |
7: 135,115,791 (GRCm39) |
H186Q |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,606,872 (GRCm39) |
T517I |
probably damaging |
Het |
| Crhr1 |
T |
A |
11: 104,054,682 (GRCm39) |
N98K |
possibly damaging |
Het |
| Dst |
C |
T |
1: 34,228,959 (GRCm39) |
S2362L |
probably benign |
Het |
| Eapp |
G |
A |
12: 54,738,844 (GRCm39) |
T98I |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,389,603 (GRCm39) |
|
probably benign |
Het |
| Kctd12 |
A |
G |
14: 103,219,713 (GRCm39) |
V55A |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,292,594 (GRCm39) |
D432G |
probably benign |
Het |
| Mrgprx1 |
T |
A |
7: 47,670,898 (GRCm39) |
H283L |
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,019,914 (GRCm39) |
F134L |
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,523 (GRCm39) |
K225R |
probably benign |
Het |
| Or4f14b |
A |
T |
2: 111,775,393 (GRCm39) |
M136K |
probably damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,570 (GRCm39) |
Y129N |
possibly damaging |
Het |
| Or8b43 |
T |
A |
9: 38,360,538 (GRCm39) |
Y123* |
probably null |
Het |
| Pfkp |
C |
A |
13: 6,669,278 (GRCm39) |
W235L |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,158,118 (GRCm39) |
|
probably null |
Het |
| Psma5-ps |
A |
G |
10: 85,149,913 (GRCm39) |
|
noncoding transcript |
Het |
| Rab14 |
A |
T |
2: 35,082,649 (GRCm39) |
F12L |
possibly damaging |
Het |
| Rnf40 |
T |
A |
7: 127,195,261 (GRCm39) |
I429N |
probably benign |
Het |
| S100pbp |
G |
A |
4: 129,075,981 (GRCm39) |
P115S |
probably benign |
Het |
| Scarf1 |
G |
A |
11: 75,416,357 (GRCm39) |
A600T |
probably damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,609,059 (GRCm39) |
F755L |
probably benign |
Het |
| Slc7a2 |
A |
T |
8: 41,367,023 (GRCm39) |
I510F |
probably benign |
Het |
| Spag16 |
T |
C |
1: 69,866,175 (GRCm39) |
S5P |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,061,641 (GRCm39) |
Y631C |
probably damaging |
Het |
| Tmem182 |
A |
T |
1: 40,894,069 (GRCm39) |
I195F |
probably benign |
Het |
| Tox |
A |
G |
4: 6,697,510 (GRCm39) |
L431P |
probably damaging |
Het |
| Tprn |
G |
A |
2: 25,153,369 (GRCm39) |
A224T |
probably benign |
Het |
| Tubb2a |
C |
A |
13: 34,259,434 (GRCm39) |
V119L |
probably benign |
Het |
| Vps37d |
C |
T |
5: 135,103,256 (GRCm39) |
E129K |
possibly damaging |
Het |
| Zfp974 |
TAATCTGTCTCCAAATCTG |
TAATCTG |
7: 27,611,671 (GRCm39) |
|
probably benign |
Het |
| Zpld1 |
A |
G |
16: 55,054,003 (GRCm39) |
V263A |
possibly damaging |
Het |
|
| Other mutations in Tsg101 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01449:Tsg101
|
APN |
7 |
46,558,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01505:Tsg101
|
APN |
7 |
46,558,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1183:Tsg101
|
UTSW |
7 |
46,539,372 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1558:Tsg101
|
UTSW |
7 |
46,539,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1560:Tsg101
|
UTSW |
7 |
46,542,208 (GRCm39) |
splice site |
probably null |
|
|
R1779:Tsg101
|
UTSW |
7 |
46,556,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2015:Tsg101
|
UTSW |
7 |
46,558,652 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2329:Tsg101
|
UTSW |
7 |
46,540,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3773:Tsg101
|
UTSW |
7 |
46,539,363 (GRCm39) |
makesense |
probably null |
|
|
R4108:Tsg101
|
UTSW |
7 |
46,542,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Tsg101
|
UTSW |
7 |
46,542,257 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5162:Tsg101
|
UTSW |
7 |
46,542,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5380:Tsg101
|
UTSW |
7 |
46,540,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6939:Tsg101
|
UTSW |
7 |
46,556,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7555:Tsg101
|
UTSW |
7 |
46,563,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Tsg101
|
UTSW |
7 |
46,563,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7901:Tsg101
|
UTSW |
7 |
46,563,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7951:Tsg101
|
UTSW |
7 |
46,540,891 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8052:Tsg101
|
UTSW |
7 |
46,542,257 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8329:Tsg101
|
UTSW |
7 |
46,558,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8524:Tsg101
|
UTSW |
7 |
46,542,115 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9455:Tsg101
|
UTSW |
7 |
46,563,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9467:Tsg101
|
UTSW |
7 |
46,558,772 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9523:Tsg101
|
UTSW |
7 |
46,542,308 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
X0063:Tsg101
|
UTSW |
7 |
46,539,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tsg101
|
UTSW |
7 |
46,540,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCAGGTCTATGACTCCCC -3'
(R):5'- GGCAGTACCATGTATCTCTTTCAC -3'
Sequencing Primer
(F):5'- CGCCGCAAAGCTTCTCC -3'
(R):5'- GGGGAATTTTCGTCATTCCTTC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation