Incidental Mutation 'R3744:Tpbg'
| ID |
271123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpbg
|
| Ensembl Gene |
ENSMUSG00000035274 |
| Gene Name |
trophoblast glycoprotein |
| Synonyms |
5T4 oncofetal antigen, 5T4 |
| MMRRC Submission |
040730-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
R3744 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
85724433-85729093 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85727215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 395
(R395G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006559]
[ENSMUST00000098500]
|
| AlphaFold |
Q9Z0L0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006559
AA Change: R395G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006559
Gene: ENSMUSG00000035274
AA Change: R395G
| 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 damaging
Transcript: ENSMUST00000098500
AA Change: R395G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096101
Gene: ENSMUSG00000035274
AA Change: R395G
| 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
|
| Meta Mutation Damage Score |
0.5471 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (33/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,330,190 (GRCm39) |
|
probably benign |
Het |
| Aox4 |
C |
T |
1: 58,285,029 (GRCm39) |
H594Y |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,720,036 (GRCm39) |
E351K |
probably damaging |
Het |
| BC004004 |
A |
G |
17: 29,520,423 (GRCm39) |
*349W |
probably null |
Het |
| Elmo2 |
C |
T |
2: 165,157,922 (GRCm39) |
D39N |
probably damaging |
Het |
| Fam161a |
T |
C |
11: 22,970,410 (GRCm39) |
F196S |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,845,416 (GRCm39) |
V276A |
unknown |
Het |
| Fn3krp |
T |
C |
11: 121,317,531 (GRCm39) |
|
probably null |
Het |
| Gnai3 |
T |
C |
3: 108,016,714 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,292,815 (GRCm39) |
|
probably benign |
Het |
| Igkv5-43 |
G |
A |
6: 69,752,921 (GRCm39) |
H54Y |
probably benign |
Het |
| Kif26b |
A |
G |
1: 178,506,595 (GRCm39) |
I224V |
probably benign |
Het |
| Lyg1 |
T |
C |
1: 37,988,923 (GRCm39) |
Y99C |
probably benign |
Het |
| Myh4 |
C |
T |
11: 67,146,141 (GRCm39) |
R1400C |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,439,573 (GRCm39) |
S2262P |
probably benign |
Het |
| Pop5 |
T |
C |
5: 115,378,567 (GRCm39) |
Y117H |
possibly damaging |
Het |
| Prpf8 |
T |
A |
11: 75,397,547 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,516,760 (GRCm39) |
F54S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,647,174 (GRCm39) |
T1954A |
probably benign |
Het |
| Ssbp2 |
T |
C |
13: 91,828,765 (GRCm39) |
|
probably benign |
Het |
| Tap1 |
A |
T |
17: 34,412,586 (GRCm39) |
D541V |
probably damaging |
Het |
| Tcte1 |
A |
G |
17: 45,850,597 (GRCm39) |
D291G |
probably damaging |
Het |
| Trappc10 |
T |
A |
10: 78,034,924 (GRCm39) |
S941C |
probably benign |
Het |
| Usp19 |
G |
A |
9: 108,377,380 (GRCm39) |
R886Q |
probably damaging |
Het |
| Utp14b |
G |
T |
1: 78,642,973 (GRCm39) |
E290D |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,804 (GRCm39) |
Y9* |
probably null |
Het |
| Vmn2r97 |
A |
G |
17: 19,149,890 (GRCm39) |
H426R |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,351,817 (GRCm39) |
D27G |
probably benign |
Het |
| Zfp36 |
A |
G |
7: 28,077,201 (GRCm39) |
S236P |
probably benign |
Het |
| Zfp616 |
C |
A |
11: 73,974,813 (GRCm39) |
H452N |
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 |
|
|
IGL01789:Tpbg
|
APN |
9 |
85,726,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGCATTCCCGGAGAAAATG -3'
(R):5'- TCAATAGTGTCTACGGTGAAGTG -3'
Sequencing Primer
(F):5'- GAGGAATCGTGGCCTCTTAGAC -3'
(R):5'- ATAGTGTCTACGGTGAAGTGTGGAAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation