Incidental Mutation 'IGL01949:Troap'
ID |
181011 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Troap
|
Ensembl Gene |
ENSMUSG00000032783 |
Gene Name |
trophinin associated protein |
Synonyms |
tastin, E130301L11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL01949
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
98972854-98981290 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98979102 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 341
(S341P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039665]
[ENSMUST00000064462]
[ENSMUST00000230054]
|
AlphaFold |
B7ZNG4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039665
AA Change: S341P
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000035389 Gene: ENSMUSG00000032783 AA Change: S341P
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 benign
Transcript: ENSMUST00000230054
AA Change: S341P
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230311
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
C |
A |
15: 94,223,987 (GRCm39) |
R1247L |
probably benign |
Het |
Atp2a3 |
T |
A |
11: 72,872,723 (GRCm39) |
M757K |
probably damaging |
Het |
Dusp5 |
T |
C |
19: 53,525,904 (GRCm39) |
I182T |
probably damaging |
Het |
Fuca1 |
T |
A |
4: 135,650,420 (GRCm39) |
|
probably benign |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Hap1 |
G |
T |
11: 100,239,588 (GRCm39) |
D610E |
probably damaging |
Het |
Hoxa6 |
T |
A |
6: 52,183,511 (GRCm39) |
Y178F |
possibly damaging |
Het |
Ighmbp2 |
A |
C |
19: 3,315,538 (GRCm39) |
D627E |
probably benign |
Het |
Itgae |
T |
C |
11: 73,009,010 (GRCm39) |
I497T |
probably benign |
Het |
Katnip |
G |
A |
7: 125,361,014 (GRCm39) |
W108* |
probably null |
Het |
Kbtbd3 |
A |
G |
9: 4,331,066 (GRCm39) |
D480G |
possibly damaging |
Het |
Kmt2b |
A |
T |
7: 30,276,586 (GRCm39) |
|
probably null |
Het |
Krt5 |
T |
A |
15: 101,619,048 (GRCm39) |
M278L |
probably benign |
Het |
Krtap4-9 |
G |
A |
11: 99,676,391 (GRCm39) |
|
probably benign |
Het |
Myl12a |
T |
C |
17: 71,303,709 (GRCm39) |
D56G |
probably benign |
Het |
Or2g25 |
T |
C |
17: 37,970,357 (GRCm39) |
Y289C |
probably damaging |
Het |
Pdgfra |
C |
A |
5: 75,331,326 (GRCm39) |
H310Q |
probably damaging |
Het |
Pglyrp2 |
G |
T |
17: 32,635,080 (GRCm39) |
|
probably null |
Het |
Polk |
C |
T |
13: 96,620,046 (GRCm39) |
S718N |
probably benign |
Het |
Ppip5k1 |
T |
A |
2: 121,168,341 (GRCm39) |
H687L |
probably benign |
Het |
Pram1 |
A |
T |
17: 33,860,309 (GRCm39) |
Q292L |
probably damaging |
Het |
Prodh2 |
A |
G |
7: 30,209,190 (GRCm39) |
|
probably null |
Het |
Rgs9 |
A |
T |
11: 109,150,660 (GRCm39) |
|
probably null |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Stk-ps2 |
A |
G |
1: 46,069,148 (GRCm39) |
|
noncoding transcript |
Het |
Svep1 |
C |
T |
4: 58,176,006 (GRCm39) |
G298R |
probably damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,335,815 (GRCm39) |
F12S |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zfp236 |
G |
T |
18: 82,642,521 (GRCm39) |
T1123K |
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 |
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 |
R1085:Troap
|
UTSW |
15 |
98,980,044 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
|
Posted On |
2014-05-07 |