Incidental Mutation 'R5031:Trappc12'
| ID |
391708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc12
|
| Ensembl Gene |
ENSMUSG00000020628 |
| Gene Name |
trafficking protein particle complex 12 |
| Synonyms |
CGI-87, Ttc15, D930014A20Rik |
| MMRRC Submission |
042622-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R5031 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
28740627-28800471 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 28742512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 682
(I682L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020954]
[ENSMUST00000168129]
|
| AlphaFold |
Q8K2L8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020954
AA Change: I682L
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020954
Gene: ENSMUSG00000020628
AA Change: I682L
| 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 |
possibly damaging
Transcript: ENSMUST00000168129
AA Change: I682L
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127752
Gene: ENSMUSG00000020628
AA Change: I682L
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 89.9%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,247,678 (GRCm39) |
N2475I |
probably damaging |
Het |
| Acnat2 |
T |
C |
4: 49,380,631 (GRCm39) |
K231R |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,589,696 (GRCm39) |
P599L |
probably damaging |
Het |
| Arhgef19 |
A |
G |
4: 140,978,121 (GRCm39) |
E580G |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,747,755 (GRCm39) |
K346E |
probably damaging |
Het |
| AU021092 |
T |
C |
16: 5,030,468 (GRCm39) |
K309E |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,743,151 (GRCm39) |
R1607G |
probably benign |
Het |
| Cct8 |
C |
T |
16: 87,284,426 (GRCm39) |
V254M |
probably damaging |
Het |
| Cdca2 |
T |
A |
14: 67,950,602 (GRCm39) |
I110F |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,522,588 (GRCm39) |
C2694S |
probably damaging |
Het |
| Dmkn |
A |
G |
7: 30,463,661 (GRCm39) |
I105V |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,753,975 (GRCm39) |
D1584G |
probably benign |
Het |
| Epg5 |
G |
A |
18: 78,072,163 (GRCm39) |
V2392I |
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gsap |
G |
A |
5: 21,447,824 (GRCm39) |
S294N |
possibly damaging |
Het |
| Hectd2 |
A |
G |
19: 36,577,004 (GRCm39) |
N142D |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,464,008 (GRCm39) |
C5091R |
probably damaging |
Het |
| Ifitm5 |
G |
A |
7: 140,530,017 (GRCm39) |
R36* |
probably null |
Het |
| Ints2 |
G |
A |
11: 86,147,026 (GRCm39) |
P40L |
probably damaging |
Het |
| Irs1 |
A |
T |
1: 82,264,688 (GRCm39) |
L1176* |
probably null |
Het |
| Klhl29 |
C |
T |
12: 5,141,334 (GRCm39) |
R550Q |
probably benign |
Het |
| Kyat1 |
A |
G |
2: 30,078,102 (GRCm39) |
M134T |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,584,822 (GRCm39) |
N384Y |
possibly damaging |
Het |
| Magel2 |
T |
C |
7: 62,029,852 (GRCm39) |
S919P |
unknown |
Het |
| Mettl16 |
A |
T |
11: 74,693,825 (GRCm39) |
I279F |
probably benign |
Het |
| Mmut |
T |
C |
17: 41,249,718 (GRCm39) |
F231S |
possibly damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,984,985 (GRCm39) |
Y231* |
probably null |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mvp |
A |
C |
7: 126,592,788 (GRCm39) |
Y374* |
probably null |
Het |
| Nabp2 |
G |
A |
10: 128,245,497 (GRCm39) |
|
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,017,378 (GRCm39) |
P247L |
probably benign |
Het |
| Or10ag53 |
C |
A |
2: 87,082,426 (GRCm39) |
F48L |
probably benign |
Het |
| Or9g4b |
T |
A |
2: 85,616,062 (GRCm39) |
L69* |
probably null |
Het |
| Pik3cb |
C |
T |
9: 98,953,461 (GRCm39) |
D441N |
probably damaging |
Het |
| Qrich1 |
C |
T |
9: 108,418,935 (GRCm39) |
P464S |
possibly damaging |
Het |
| Rab17 |
A |
T |
1: 90,887,860 (GRCm39) |
|
probably null |
Het |
| Relch |
A |
G |
1: 105,592,239 (GRCm39) |
N136S |
probably damaging |
Het |
| Rspo3 |
A |
T |
10: 29,382,443 (GRCm39) |
L77H |
probably damaging |
Het |
| Spn |
G |
T |
7: 126,736,402 (GRCm39) |
T35K |
probably benign |
Het |
| Sult1d1 |
T |
A |
5: 87,707,703 (GRCm39) |
Y139F |
possibly damaging |
Het |
| Tbc1d32 |
C |
A |
10: 55,999,627 (GRCm39) |
Q848H |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
| Tram1l1 |
T |
A |
3: 124,115,293 (GRCm39) |
L151* |
probably null |
Het |
| Trav6d-4 |
A |
C |
14: 52,991,056 (GRCm39) |
T31P |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,275,910 (GRCm39) |
T503A |
probably benign |
Het |
| Virma |
T |
A |
4: 11,542,116 (GRCm39) |
Y1567* |
probably null |
Het |
| Vmn1r228 |
T |
A |
17: 20,996,943 (GRCm39) |
K192* |
probably null |
Het |
| Zfp521 |
T |
A |
18: 13,977,330 (GRCm39) |
T1028S |
possibly damaging |
Het |
| Zfp583 |
T |
A |
7: 6,320,397 (GRCm39) |
Q205L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGATGGCTCAGCAGGTTG -3'
(R):5'- TTCCTCTTCTGACATGATACTGGG -3'
Sequencing Primer
(F):5'- CACAAAGCTGCTGGGGTTCATG -3'
(R):5'- CTTCTGACATGATACTGGGAACAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation