Incidental Mutation 'IGL01789:Tpbg'
| ID |
155151 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tpbg
|
| Ensembl Gene |
ENSMUSG00000035274 |
| Gene Name |
trophoblast glycoprotein |
| Synonyms |
5T4 oncofetal antigen, 5T4 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
IGL01789
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
85724433-85729093 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85726954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 308
(M308L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006559]
[ENSMUST00000098500]
|
| AlphaFold |
Q9Z0L0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006559
AA Change: M308L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000006559
Gene: ENSMUSG00000035274
AA Change: M308L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
LRRNT
|
61 |
95 |
1.27e-6 |
SMART |
|
LRR
|
94 |
113 |
1.53e2 |
SMART |
|
LRR_TYP
|
117 |
140 |
1.92e-2 |
SMART |
|
LRR_TYP
|
141 |
164 |
6.88e-4 |
SMART |
|
LRR
|
215 |
238 |
6.22e0 |
SMART |
|
LRR_TYP
|
239 |
262 |
2.2e-2 |
SMART |
|
LRR
|
263 |
286 |
2.67e-1 |
SMART |
|
LRRCT
|
300 |
351 |
9.1e-14 |
SMART |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000069896
|
| SMART Domains |
Protein: ENSMUSP00000126873
Gene: ENSMUSG00000056031
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098500
AA Change: M308L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000096101
Gene: ENSMUSG00000035274
AA Change: M308L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
LRRNT
|
61 |
95 |
1.27e-6 |
SMART |
|
LRR
|
94 |
113 |
1.53e2 |
SMART |
|
LRR_TYP
|
117 |
140 |
1.92e-2 |
SMART |
|
LRR_TYP
|
141 |
164 |
6.88e-4 |
SMART |
|
LRR
|
215 |
238 |
6.22e0 |
SMART |
|
LRR_TYP
|
239 |
262 |
2.2e-2 |
SMART |
|
LRR
|
263 |
286 |
2.67e-1 |
SMART |
|
LRRCT
|
300 |
351 |
9.1e-14 |
SMART |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189191
|
| 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 encodes a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. The encoded protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit low penetrance hydrocephaly and premature death. Embryonic stem cells isolated from these mice exhibit impaired mesenchyme differentiation and reduced chemotaxis following differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
C |
T |
5: 90,673,443 (GRCm39) |
P232S |
probably benign |
Het |
| Atp11b |
A |
T |
3: 35,843,741 (GRCm39) |
Q81L |
possibly damaging |
Het |
| Cgn |
G |
A |
3: 94,683,528 (GRCm39) |
P413S |
possibly damaging |
Het |
| Eps8 |
C |
T |
6: 137,516,364 (GRCm39) |
M5I |
probably benign |
Het |
| Fam83h |
A |
T |
15: 75,877,969 (GRCm39) |
M143K |
probably damaging |
Het |
| Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,566,352 (GRCm39) |
C2217Y |
probably damaging |
Het |
| Leo1 |
T |
C |
9: 75,361,896 (GRCm39) |
|
probably benign |
Het |
| Lipm |
A |
G |
19: 34,096,147 (GRCm39) |
D321G |
probably damaging |
Het |
| Nos2 |
C |
T |
11: 78,835,483 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,999,372 (GRCm39) |
Y257C |
probably benign |
Het |
| Rnpep |
T |
C |
1: 135,195,833 (GRCm39) |
K359E |
possibly damaging |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Tas2r130 |
T |
A |
6: 131,607,118 (GRCm39) |
S226C |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,838,090 (GRCm39) |
S1715L |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,239,462 (GRCm39) |
N3508K |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,634,141 (GRCm39) |
|
probably null |
Het |
| Wdhd1 |
A |
T |
14: 47,512,274 (GRCm39) |
M39K |
probably benign |
Het |
|
| Other mutations in Tpbg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01393:Tpbg
|
APN |
9 |
85,726,145 (GRCm39) |
missense |
unknown |
|
|
IGL01987:Tpbg
|
APN |
9 |
85,727,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0399:Tpbg
|
UTSW |
9 |
85,726,991 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0418:Tpbg
|
UTSW |
9 |
85,726,803 (GRCm39) |
nonsense |
probably null |
|
|
R0904:Tpbg
|
UTSW |
9 |
85,726,617 (GRCm39) |
missense |
unknown |
|
|
R1748:Tpbg
|
UTSW |
9 |
85,726,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3744:Tpbg
|
UTSW |
9 |
85,727,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3836:Tpbg
|
UTSW |
9 |
85,725,167 (GRCm39) |
intron |
probably benign |
|
|
R3837:Tpbg
|
UTSW |
9 |
85,725,167 (GRCm39) |
intron |
probably benign |
|
|
R3839:Tpbg
|
UTSW |
9 |
85,725,167 (GRCm39) |
intron |
probably benign |
|
|
R5221:Tpbg
|
UTSW |
9 |
85,726,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Tpbg
|
UTSW |
9 |
85,726,538 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7192:Tpbg
|
UTSW |
9 |
85,726,085 (GRCm39) |
nonsense |
probably null |
|
|
R7462:Tpbg
|
UTSW |
9 |
85,726,903 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8481:Tpbg
|
UTSW |
9 |
85,726,138 (GRCm39) |
missense |
unknown |
|
|
R8895:Tpbg
|
UTSW |
9 |
85,726,520 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9073:Tpbg
|
UTSW |
9 |
85,724,924 (GRCm39) |
splice site |
probably null |
|
|
R9092:Tpbg
|
UTSW |
9 |
85,726,916 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9319:Tpbg
|
UTSW |
9 |
85,725,991 (GRCm39) |
start gained |
probably benign |
|
|
R9655:Tpbg
|
UTSW |
9 |
85,726,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9708:Tpbg
|
UTSW |
9 |
85,726,574 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2014-02-04 |
Incidental Mutation