Incidental Mutation 'R1085:Troap'
| ID |
84995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Troap
|
| Ensembl Gene |
ENSMUSG00000032783 |
| Gene Name |
trophinin associated protein |
| Synonyms |
tastin, E130301L11Rik |
| MMRRC Submission |
039171-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R1085 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
98972854-98981290 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98980044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 408
(V408A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039665]
[ENSMUST00000064462]
[ENSMUST00000230054]
|
| AlphaFold |
B7ZNG4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039665
AA Change: V408A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035389
Gene: ENSMUSG00000032783
AA Change: V408A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
232 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
511 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064462
|
| SMART Domains |
Protein: ENSMUSP00000068402
Gene: ENSMUSG00000001076
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
C1Q
|
103 |
238 |
2.34e-34 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229224
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229740
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230054
AA Change: V408A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230311
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
A |
T |
15: 10,388,338 (GRCm39) |
T278S |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,990,489 (GRCm39) |
D3924E |
possibly damaging |
Het |
| Cfap57 |
T |
A |
4: 118,452,976 (GRCm39) |
T576S |
probably benign |
Het |
| Cntnap1 |
G |
A |
11: 101,069,662 (GRCm39) |
R247K |
probably benign |
Het |
| Dipk1c |
A |
G |
18: 84,757,509 (GRCm39) |
I198V |
possibly damaging |
Het |
| Gldc |
C |
A |
19: 30,128,828 (GRCm39) |
C215F |
probably damaging |
Het |
| Grm4 |
T |
A |
17: 27,692,007 (GRCm39) |
Y204F |
probably damaging |
Het |
| Itga11 |
T |
G |
9: 62,585,252 (GRCm39) |
V9G |
probably benign |
Het |
| Mc2r |
A |
G |
18: 68,540,417 (GRCm39) |
F292S |
probably benign |
Het |
| Mcur1 |
A |
G |
13: 43,708,480 (GRCm39) |
S124P |
unknown |
Het |
| Mrtfa |
T |
C |
15: 80,905,084 (GRCm39) |
D116G |
probably damaging |
Het |
| Nin |
G |
T |
12: 70,067,736 (GRCm39) |
Q1964K |
possibly damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or5ae2 |
A |
G |
7: 84,505,987 (GRCm39) |
T137A |
probably benign |
Het |
| Or5b117 |
C |
T |
19: 13,431,594 (GRCm39) |
A96T |
possibly damaging |
Het |
| Psd2 |
G |
A |
18: 36,145,830 (GRCm39) |
A745T |
probably benign |
Het |
| Rrp36 |
A |
G |
17: 46,978,878 (GRCm39) |
*227Q |
probably null |
Het |
| Sh3tc2 |
A |
C |
18: 62,148,067 (GRCm39) |
D1259A |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tex2 |
G |
A |
11: 106,459,313 (GRCm39) |
S39L |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,796 (GRCm39) |
I24T |
possibly damaging |
Het |
| Ttc16 |
A |
T |
2: 32,665,092 (GRCm39) |
S12T |
possibly damaging |
Het |
| Wdr37 |
A |
T |
13: 8,855,964 (GRCm39) |
C460S |
probably damaging |
Het |
|
| Other mutations in Troap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Troap
|
APN |
15 |
98,980,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01949:Troap
|
APN |
15 |
98,979,102 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02468:Troap
|
APN |
15 |
98,973,242 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02804:Troap
|
APN |
15 |
98,975,552 (GRCm39) |
splice site |
probably null |
|
|
IGL03224:Troap
|
APN |
15 |
98,979,758 (GRCm39) |
missense |
probably benign |
|
|
R0617:Troap
|
UTSW |
15 |
98,980,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Troap
|
UTSW |
15 |
98,973,233 (GRCm39) |
splice site |
probably benign |
|
|
R1884:Troap
|
UTSW |
15 |
98,975,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1937:Troap
|
UTSW |
15 |
98,975,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Troap
|
UTSW |
15 |
98,980,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2065:Troap
|
UTSW |
15 |
98,980,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2066:Troap
|
UTSW |
15 |
98,980,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2068:Troap
|
UTSW |
15 |
98,980,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2087:Troap
|
UTSW |
15 |
98,976,698 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2159:Troap
|
UTSW |
15 |
98,975,467 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4282:Troap
|
UTSW |
15 |
98,976,713 (GRCm39) |
missense |
probably benign |
|
|
R5296:Troap
|
UTSW |
15 |
98,976,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5557:Troap
|
UTSW |
15 |
98,973,675 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5652:Troap
|
UTSW |
15 |
98,980,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5764:Troap
|
UTSW |
15 |
98,973,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6891:Troap
|
UTSW |
15 |
98,980,569 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8008:Troap
|
UTSW |
15 |
98,973,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9319:Troap
|
UTSW |
15 |
98,975,444 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF012:Troap
|
UTSW |
15 |
98,973,281 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1177:Troap
|
UTSW |
15 |
98,975,458 (GRCm39) |
missense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGACCAGGAGAGTCGCATCACC -3'
(R):5'- TGTGACAGTCCAACAAGGGCAG -3'
Sequencing Primer
(F):5'- GTCGCATCACCTTGCAGAAG -3'
(R):5'- CAGCTCCAGAATTGTGTTCTGAAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation