Incidental Mutation 'IGL02885:Trappc12'
| ID |
362962 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trappc12
|
| Ensembl Gene |
ENSMUSG00000020628 |
| Gene Name |
trafficking protein particle complex 12 |
| Synonyms |
CGI-87, Ttc15, D930014A20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.366)
|
| Stock # |
IGL02885
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
28740627-28800471 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28797013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 173
(V173A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020954]
[ENSMUST00000035657]
[ENSMUST00000168129]
[ENSMUST00000170994]
[ENSMUST00000221555]
[ENSMUST00000221877]
[ENSMUST00000222407]
|
| AlphaFold |
Q8K2L8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020954
AA Change: V173A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020954
Gene: ENSMUSG00000020628
AA Change: V173A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
TPR
|
607 |
640 |
3.67e-3 |
SMART |
|
TPR
|
642 |
675 |
1.44e1 |
SMART |
|
TPR
|
682 |
715 |
3.37e-2 |
SMART |
|
TPR
|
716 |
749 |
2.99e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035657
|
| SMART Domains |
Protein: ENSMUSP00000038845
Gene: ENSMUSG00000036613
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
56 |
N/A |
INTRINSIC |
|
Blast:WD40
|
57 |
100 |
1e-18 |
BLAST |
|
WD40
|
122 |
163 |
6.39e0 |
SMART |
|
WD40
|
172 |
213 |
2.29e1 |
SMART |
|
WD40
|
216 |
257 |
6.38e-7 |
SMART |
|
WD40
|
261 |
301 |
4.38e-5 |
SMART |
|
WD40
|
335 |
375 |
1.2e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168129
AA Change: V173A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127752
Gene: ENSMUSG00000020628
AA Change: V173A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
TPR
|
607 |
640 |
3.67e-3 |
SMART |
|
TPR
|
642 |
675 |
1.44e1 |
SMART |
|
TPR
|
682 |
715 |
3.37e-2 |
SMART |
|
TPR
|
716 |
749 |
2.99e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170994
AA Change: V173A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132009
Gene: ENSMUSG00000020628
AA Change: V173A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221335
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221555
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223447
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222407
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,948,152 (GRCm39) |
N683S |
probably benign |
Het |
| Ahi1 |
T |
A |
10: 20,931,012 (GRCm39) |
F46I |
possibly damaging |
Het |
| Als2 |
C |
T |
1: 59,206,650 (GRCm39) |
V1598I |
probably benign |
Het |
| Arid1b |
A |
T |
17: 5,392,428 (GRCm39) |
D1986V |
probably damaging |
Het |
| Bhlhe41 |
T |
A |
6: 145,810,989 (GRCm39) |
D2V |
probably damaging |
Het |
| Borcs6 |
A |
G |
11: 68,951,072 (GRCm39) |
D150G |
possibly damaging |
Het |
| Ccdc88a |
G |
T |
11: 29,398,050 (GRCm39) |
R261L |
probably damaging |
Het |
| Ccne2 |
T |
A |
4: 11,198,723 (GRCm39) |
|
probably benign |
Het |
| Cenpk |
A |
G |
13: 104,385,903 (GRCm39) |
D266G |
probably damaging |
Het |
| Ces2b |
T |
C |
8: 105,561,563 (GRCm39) |
V219A |
probably damaging |
Het |
| Cpa1 |
A |
G |
6: 30,645,169 (GRCm39) |
R382G |
probably damaging |
Het |
| Cplx4 |
G |
T |
18: 66,089,984 (GRCm39) |
T145N |
probably damaging |
Het |
| Cyp19a1 |
T |
C |
9: 54,079,102 (GRCm39) |
I269V |
probably benign |
Het |
| Dennd3 |
A |
G |
15: 73,440,545 (GRCm39) |
Y1192C |
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,923,471 (GRCm39) |
Y694H |
probably damaging |
Het |
| Eea1 |
C |
A |
10: 95,877,346 (GRCm39) |
N1353K |
probably benign |
Het |
| Fam111a |
T |
A |
19: 12,561,488 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
C |
8: 45,442,204 (GRCm39) |
S1169P |
probably benign |
Het |
| Frk |
G |
T |
10: 34,360,067 (GRCm39) |
A23S |
probably benign |
Het |
| Fyb2 |
T |
C |
4: 104,861,118 (GRCm39) |
V594A |
probably damaging |
Het |
| Gtpbp3 |
C |
A |
8: 71,942,064 (GRCm39) |
|
probably benign |
Het |
| Hoxa5 |
G |
T |
6: 52,179,688 (GRCm39) |
A229D |
probably damaging |
Het |
| Ift25 |
G |
A |
4: 107,130,866 (GRCm39) |
C52Y |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,913,007 (GRCm39) |
F1780L |
possibly damaging |
Het |
| Jade2 |
A |
T |
11: 51,722,123 (GRCm39) |
D143E |
probably damaging |
Het |
| Kdm1a |
T |
C |
4: 136,279,846 (GRCm39) |
I719V |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Lmx1b |
G |
T |
2: 33,457,216 (GRCm39) |
Q206K |
probably benign |
Het |
| Lrrtm4 |
G |
A |
6: 79,998,786 (GRCm39) |
G66D |
probably damaging |
Het |
| Myg1 |
G |
T |
15: 102,240,594 (GRCm39) |
G90C |
probably damaging |
Het |
| Nbea |
C |
T |
3: 55,539,407 (GRCm39) |
V2785I |
probably benign |
Het |
| Ncr1 |
C |
A |
7: 4,341,225 (GRCm39) |
P35Q |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,033,855 (GRCm39) |
C326S |
probably damaging |
Het |
| Or12j2 |
T |
C |
7: 139,916,072 (GRCm39) |
F99S |
possibly damaging |
Het |
| Or3a1 |
G |
T |
11: 74,225,519 (GRCm39) |
H179Q |
possibly damaging |
Het |
| Or52r1 |
A |
T |
7: 102,537,243 (GRCm39) |
V39E |
possibly damaging |
Het |
| Pde4d |
A |
G |
13: 110,084,795 (GRCm39) |
Y520C |
probably damaging |
Het |
| Ppm1d |
A |
G |
11: 85,217,770 (GRCm39) |
M178V |
possibly damaging |
Het |
| Samd3 |
G |
A |
10: 26,147,762 (GRCm39) |
R479K |
probably benign |
Het |
| Semp2l2b |
T |
A |
10: 21,943,057 (GRCm39) |
I308F |
possibly damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,102,782 (GRCm39) |
V226A |
probably benign |
Het |
| Slc26a4 |
T |
C |
12: 31,575,475 (GRCm39) |
E737G |
probably benign |
Het |
| Slc34a3 |
A |
G |
2: 25,121,069 (GRCm39) |
C340R |
probably damaging |
Het |
| Spata31d1b |
C |
A |
13: 59,866,941 (GRCm39) |
|
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,723 (GRCm39) |
D562E |
probably benign |
Het |
| Zfp395 |
C |
T |
14: 65,633,344 (GRCm39) |
P451L |
probably benign |
Het |
|
| Other mutations in Trappc12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Trappc12
|
APN |
12 |
28,787,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01018:Trappc12
|
APN |
12 |
28,741,853 (GRCm39) |
splice site |
probably benign |
|
|
IGL01295:Trappc12
|
APN |
12 |
28,796,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01365:Trappc12
|
APN |
12 |
28,797,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01490:Trappc12
|
APN |
12 |
28,796,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01975:Trappc12
|
APN |
12 |
28,742,491 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02851:Trappc12
|
APN |
12 |
28,741,405 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03163:Trappc12
|
APN |
12 |
28,796,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Trappc12
|
UTSW |
12 |
28,796,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Trappc12
|
UTSW |
12 |
28,796,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Trappc12
|
UTSW |
12 |
28,797,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0517:Trappc12
|
UTSW |
12 |
28,747,133 (GRCm39) |
splice site |
probably benign |
|
|
R0837:Trappc12
|
UTSW |
12 |
28,753,596 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1439:Trappc12
|
UTSW |
12 |
28,797,160 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1477:Trappc12
|
UTSW |
12 |
28,787,751 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1651:Trappc12
|
UTSW |
12 |
28,741,776 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1899:Trappc12
|
UTSW |
12 |
28,796,984 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1900:Trappc12
|
UTSW |
12 |
28,796,984 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2133:Trappc12
|
UTSW |
12 |
28,796,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2174:Trappc12
|
UTSW |
12 |
28,797,380 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4449:Trappc12
|
UTSW |
12 |
28,797,234 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5031:Trappc12
|
UTSW |
12 |
28,742,512 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5209:Trappc12
|
UTSW |
12 |
28,787,793 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5220:Trappc12
|
UTSW |
12 |
28,796,696 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5458:Trappc12
|
UTSW |
12 |
28,796,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5471:Trappc12
|
UTSW |
12 |
28,741,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5482:Trappc12
|
UTSW |
12 |
28,741,324 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5808:Trappc12
|
UTSW |
12 |
28,796,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5916:Trappc12
|
UTSW |
12 |
28,741,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Trappc12
|
UTSW |
12 |
28,797,113 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6378:Trappc12
|
UTSW |
12 |
28,797,082 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7669:Trappc12
|
UTSW |
12 |
28,761,957 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9233:Trappc12
|
UTSW |
12 |
28,772,414 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9323:Trappc12
|
UTSW |
12 |
28,742,491 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9361:Trappc12
|
UTSW |
12 |
28,796,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9550:Trappc12
|
UTSW |
12 |
28,761,985 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9784:Trappc12
|
UTSW |
12 |
28,797,457 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Posted On |
2015-12-18 |
Incidental Mutation