Incidental Mutation 'R5808:Trappc12'
| ID |
448856 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5808 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
28740627-28800471 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 28796863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 223
(D223V)
|
| 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 damaging
Transcript: ENSMUST00000020954
AA Change: D223V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020954
Gene: ENSMUSG00000020628
AA Change: D223V
| 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 damaging
Transcript: ENSMUST00000168129
AA Change: D223V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127752
Gene: ENSMUSG00000020628
AA Change: D223V
| 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 damaging
Transcript: ENSMUST00000170994
AA Change: D223V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132009
Gene: ENSMUSG00000020628
AA Change: D223V
| 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: ENSMUST00000223447
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223552
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222407
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
C |
T |
10: 76,286,482 (GRCm39) |
R6W |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,599 (GRCm39) |
V2961E |
possibly damaging |
Het |
| Aldh1a7 |
A |
T |
19: 20,685,561 (GRCm39) |
Y330N |
possibly damaging |
Het |
| Bag6 |
A |
G |
17: 35,365,298 (GRCm39) |
Y1041C |
probably damaging |
Het |
| Baz1b |
T |
A |
5: 135,250,812 (GRCm39) |
V866E |
probably benign |
Het |
| Bmpr2 |
A |
T |
1: 59,906,560 (GRCm39) |
Y551F |
probably benign |
Het |
| Cage1 |
A |
G |
13: 38,206,301 (GRCm39) |
|
probably benign |
Het |
| Caskin2 |
G |
T |
11: 115,692,589 (GRCm39) |
P732Q |
probably damaging |
Het |
| Cbfa2t2 |
T |
C |
2: 154,359,746 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
A |
T |
10: 41,531,500 (GRCm39) |
M502K |
possibly damaging |
Het |
| Cfap157 |
T |
C |
2: 32,670,657 (GRCm39) |
D197G |
probably damaging |
Het |
| CN725425 |
T |
A |
15: 91,129,847 (GRCm39) |
S237T |
probably benign |
Het |
| Defb40 |
T |
C |
8: 19,025,095 (GRCm39) |
H37R |
probably benign |
Het |
| Dis3l2 |
A |
C |
1: 86,977,360 (GRCm39) |
S836R |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,568,724 (GRCm39) |
I2818T |
possibly damaging |
Het |
| Dpysl2 |
T |
A |
14: 67,102,621 (GRCm39) |
|
probably null |
Het |
| Dsc1 |
A |
T |
18: 20,219,886 (GRCm39) |
C761* |
probably null |
Het |
| Dsg1b |
A |
T |
18: 20,541,782 (GRCm39) |
D763V |
probably damaging |
Het |
| Eif2ak1 |
C |
T |
5: 143,820,812 (GRCm39) |
P251L |
probably benign |
Het |
| Epha6 |
A |
T |
16: 59,503,105 (GRCm39) |
I934K |
probably damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,790,744 (GRCm39) |
E122G |
probably damaging |
Het |
| Filip1 |
C |
T |
9: 79,725,983 (GRCm39) |
G879R |
possibly damaging |
Het |
| Frem2 |
A |
T |
3: 53,559,984 (GRCm39) |
F1508I |
probably damaging |
Het |
| Gja1 |
A |
G |
10: 56,264,594 (GRCm39) |
N318D |
probably benign |
Het |
| Gm11564 |
T |
C |
11: 99,705,867 (GRCm39) |
S188G |
unknown |
Het |
| Hlcs |
A |
G |
16: 94,063,491 (GRCm39) |
V523A |
probably benign |
Het |
| Kif1a |
C |
A |
1: 92,970,420 (GRCm39) |
E1041D |
probably damaging |
Het |
| Lamtor1 |
A |
G |
7: 101,559,289 (GRCm39) |
Y81C |
possibly damaging |
Het |
| Loxl1 |
A |
G |
9: 58,201,732 (GRCm39) |
L453S |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,043,937 (GRCm39) |
M1V |
probably null |
Het |
| Megf6 |
A |
G |
4: 154,352,119 (GRCm39) |
Q1208R |
probably benign |
Het |
| Morc2a |
T |
A |
11: 3,633,781 (GRCm39) |
I631N |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,226,360 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,406,428 (GRCm39) |
S139G |
possibly damaging |
Het |
| Myo18a |
T |
C |
11: 77,720,127 (GRCm39) |
F1017L |
probably benign |
Het |
| Nup62 |
A |
C |
7: 44,479,416 (GRCm39) |
Q477P |
possibly damaging |
Het |
| P2ry13 |
T |
A |
3: 59,117,653 (GRCm39) |
I42F |
probably benign |
Het |
| Ptprb |
G |
A |
10: 116,175,392 (GRCm39) |
R1129K |
probably benign |
Het |
| Rexo4 |
T |
A |
2: 26,854,197 (GRCm39) |
K45I |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,327,121 (GRCm39) |
V1703I |
probably benign |
Het |
| Sec23ip |
C |
A |
7: 128,373,908 (GRCm39) |
A710E |
probably benign |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,149,362 (GRCm39) |
T194A |
probably benign |
Het |
| Slc4a10 |
G |
A |
2: 62,080,816 (GRCm39) |
A348T |
probably damaging |
Het |
| Soat2 |
G |
A |
15: 102,062,460 (GRCm39) |
|
probably null |
Het |
| Srms |
T |
C |
2: 180,850,548 (GRCm39) |
S204G |
probably benign |
Het |
| Szt2 |
G |
A |
4: 118,229,810 (GRCm39) |
R2774C |
unknown |
Het |
| Tcf7l2 |
T |
C |
19: 55,896,973 (GRCm39) |
V182A |
probably damaging |
Het |
| Tmem167b |
C |
T |
3: 108,467,559 (GRCm39) |
R29H |
probably benign |
Het |
| Ttc6 |
T |
A |
12: 57,664,397 (GRCm39) |
S383R |
possibly damaging |
Het |
| Ubr1 |
C |
T |
2: 120,791,573 (GRCm39) |
R137H |
possibly damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,792,597 (GRCm39) |
C641* |
probably null |
Het |
| Vrk3 |
A |
G |
7: 44,409,298 (GRCm39) |
D155G |
probably damaging |
Het |
| Xxylt1 |
T |
C |
16: 30,869,503 (GRCm39) |
Y199C |
probably damaging |
Het |
| Zbtb46 |
A |
T |
2: 181,065,363 (GRCm39) |
D262E |
probably benign |
Het |
| Zcchc9 |
A |
T |
13: 91,948,766 (GRCm39) |
S58T |
probably benign |
Het |
| Zfp747l1 |
A |
T |
7: 126,984,085 (GRCm39) |
|
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,631,563 (GRCm39) |
L1344* |
probably null |
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 |
|
IGL02885:Trappc12
|
APN |
12 |
28,797,013 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATTGGGATTACTGACTGAAATG -3'
(R):5'- AAGATGTGACGAGCATGCCTG -3'
Sequencing Primer
(F):5'- TGACTGAAATGAAAGTAGAAGTTGTG -3'
(R):5'- CATGCCTGCACTGGAGAATG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation