Incidental Mutation 'R9550:Trappc12'
| ID |
720449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc12
|
| Ensembl Gene |
ENSMUSG00000020628 |
| Gene Name |
trafficking protein particle complex 12 |
| Synonyms |
CGI-87, Ttc15, D930014A20Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.366)
|
| Stock # |
R9550 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
28740627-28800471 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 28761985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020954]
[ENSMUST00000020954]
[ENSMUST00000168129]
[ENSMUST00000170994]
|
| AlphaFold |
Q8K2L8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020954
|
| SMART Domains |
Protein: ENSMUSP00000020954
Gene: ENSMUSG00000020628
| 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 null
Transcript: ENSMUST00000020954
|
| SMART Domains |
Protein: ENSMUSP00000020954
Gene: ENSMUSG00000020628
| 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: ENSMUST00000168129
|
| SMART Domains |
Protein: ENSMUSP00000127752
Gene: ENSMUSG00000020628
| 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
|
| SMART Domains |
Protein: ENSMUSP00000132009
Gene: ENSMUSG00000020628
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
G |
8: 44,022,120 (GRCm39) |
C457R |
probably damaging |
Het |
| Adamts9 |
A |
T |
6: 92,878,429 (GRCm39) |
V546E |
probably benign |
Het |
| Add3 |
G |
A |
19: 53,233,521 (GRCm39) |
E641K |
possibly damaging |
Het |
| Anks1b |
T |
A |
10: 90,412,360 (GRCm39) |
M1K |
probably null |
Het |
| C1s2 |
G |
A |
6: 124,605,253 (GRCm39) |
Q361* |
probably null |
Het |
| Casp4 |
T |
C |
9: 5,328,465 (GRCm39) |
S316P |
probably damaging |
Het |
| Cby2 |
A |
G |
14: 75,820,603 (GRCm39) |
V374A |
probably damaging |
Het |
| Cdyl |
A |
G |
13: 36,000,147 (GRCm39) |
T143A |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,858,598 (GRCm39) |
T760A |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,119,439 (GRCm39) |
L1035P |
probably damaging |
Het |
| Cpne8 |
T |
C |
15: 90,453,760 (GRCm39) |
I208V |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,340,387 (GRCm39) |
L641P |
probably damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,093,902 (GRCm39) |
M741K |
possibly damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,495,058 (GRCm39) |
Y518C |
possibly damaging |
Het |
| Dtnb |
A |
G |
12: 3,768,437 (GRCm39) |
N343D |
possibly damaging |
Het |
| Dusp3 |
A |
T |
11: 101,872,668 (GRCm39) |
S43T |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Espn |
C |
T |
4: 152,215,534 (GRCm39) |
R575H |
probably damaging |
Het |
| Gls |
A |
T |
1: 52,251,373 (GRCm39) |
L328* |
probably null |
Het |
| H2-T23 |
T |
C |
17: 36,342,712 (GRCm39) |
D142G |
probably damaging |
Het |
| Hck |
A |
G |
2: 152,976,651 (GRCm39) |
M262V |
probably benign |
Het |
| Igkv14-126 |
G |
T |
6: 67,873,199 (GRCm39) |
L13F |
possibly damaging |
Het |
| Muc2 |
C |
T |
7: 141,308,242 (GRCm39) |
R913C |
probably damaging |
Het |
| Mypop |
A |
T |
7: 18,726,245 (GRCm39) |
T71S |
probably damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,353,615 (GRCm39) |
I536T |
probably damaging |
Het |
| Obsl1 |
T |
C |
1: 75,474,910 (GRCm39) |
E830G |
possibly damaging |
Het |
| Or1q1 |
T |
A |
2: 36,887,137 (GRCm39) |
I105N |
probably damaging |
Het |
| Or8d2b |
T |
C |
9: 38,788,937 (GRCm39) |
V155A |
probably benign |
Het |
| Pcdha8 |
A |
T |
18: 37,127,399 (GRCm39) |
Y627F |
possibly damaging |
Het |
| Polr1b |
T |
A |
2: 128,962,205 (GRCm39) |
S742R |
unknown |
Het |
| Ppm1e |
A |
T |
11: 87,121,919 (GRCm39) |
N679K |
probably benign |
Het |
| Raly |
AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG |
AGCAGCAGTGGTGGAGG |
2: 154,705,754 (GRCm39) |
|
probably benign |
Het |
| Rgs12 |
G |
T |
5: 35,196,665 (GRCm39) |
G1430C |
probably damaging |
Het |
| Rhcg |
T |
C |
7: 79,248,296 (GRCm39) |
Y436C |
probably damaging |
Het |
| Ripor3 |
T |
C |
2: 167,822,807 (GRCm39) |
D918G |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,003,620 (GRCm39) |
F1897L |
probably damaging |
Het |
| Sin3a |
T |
C |
9: 56,996,768 (GRCm39) |
V99A |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,195,224 (GRCm39) |
L137* |
probably null |
Het |
| Sufu |
A |
G |
19: 46,385,675 (GRCm39) |
Y45C |
probably damaging |
Het |
| Thsd1 |
C |
T |
8: 22,733,026 (GRCm39) |
|
probably benign |
Het |
| Tiam2 |
T |
A |
17: 3,559,706 (GRCm39) |
L1249Q |
probably damaging |
Het |
| Toe1 |
C |
T |
4: 116,661,916 (GRCm39) |
V418M |
probably benign |
Het |
| Triobp |
A |
G |
15: 78,858,077 (GRCm39) |
D1226G |
probably damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,464,572 (GRCm39) |
S1602P |
probably damaging |
Het |
| Zfp266 |
T |
C |
9: 20,410,482 (GRCm39) |
K565R |
probably damaging |
Het |
| Zfp319 |
T |
C |
8: 96,055,025 (GRCm39) |
T393A |
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 |
|
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 |
|
R9784:Trappc12
|
UTSW |
12 |
28,797,457 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCGTGGTGTGAATGCTC -3'
(R):5'- GCTTCCAATGCAACACCTG -3'
Sequencing Primer
(F):5'- CGTGGTGTGAATGCTCAGAGG -3'
(R):5'- AATGCAACACCTGTGTGCTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation