Incidental Mutation 'R7669:Trappc12'
| ID |
592058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc12
|
| Ensembl Gene |
ENSMUSG00000020628 |
| Gene Name |
trafficking protein particle complex 12 |
| Synonyms |
CGI-87, Ttc15, D930014A20Rik |
| MMRRC Submission |
045741-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.366)
|
| Stock # |
R7669 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
28740627-28800471 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28761957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 544
(I544V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020954]
[ENSMUST00000168129]
[ENSMUST00000170994]
|
| AlphaFold |
Q8K2L8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020954
AA Change: I544V
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020954
Gene: ENSMUSG00000020628
AA Change: I544V
| 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
AA Change: I544V
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127752
Gene: ENSMUSG00000020628
AA Change: I544V
| 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: I544V
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000132009
Gene: ENSMUSG00000020628
AA Change: I544V
| 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 |
|
| Meta Mutation Damage Score |
0.0729 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
T |
17: 45,831,221 (GRCm39) |
P930S |
probably benign |
Het |
| Ada |
T |
A |
2: 163,570,111 (GRCm39) |
K301* |
probably null |
Het |
| Alb |
T |
C |
5: 90,611,850 (GRCm39) |
L93P |
possibly damaging |
Het |
| Aldh1l1 |
G |
A |
6: 90,547,844 (GRCm39) |
G435S |
probably benign |
Het |
| Alox12b |
A |
T |
11: 69,060,167 (GRCm39) |
I627F |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,025,946 (GRCm39) |
I503V |
probably benign |
Het |
| Arhgap29 |
C |
T |
3: 121,786,461 (GRCm39) |
A342V |
probably damaging |
Het |
| BC024139 |
G |
A |
15: 76,004,768 (GRCm39) |
P636L |
possibly damaging |
Het |
| Bmp6 |
G |
T |
13: 38,668,896 (GRCm39) |
R293L |
probably damaging |
Het |
| Cfd |
G |
A |
10: 79,727,447 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,967,273 (GRCm39) |
A3197T |
probably damaging |
Het |
| Flii |
G |
A |
11: 60,613,490 (GRCm39) |
L166F |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,195,822 (GRCm39) |
N507K |
unknown |
Het |
| Foxe1 |
C |
A |
4: 46,344,545 (GRCm39) |
R118S |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,840,483 (GRCm39) |
V1646A |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,637,711 (GRCm39) |
T262A |
possibly damaging |
Het |
| Gpbp1 |
A |
T |
13: 111,575,658 (GRCm39) |
S282T |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,462,029 (GRCm39) |
N641K |
probably damaging |
Het |
| Grin2a |
T |
G |
16: 9,810,327 (GRCm39) |
N24T |
probably benign |
Het |
| Gstm2 |
T |
G |
3: 107,892,992 (GRCm39) |
D40A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,426,143 (GRCm39) |
I657N |
probably benign |
Het |
| Kmt2b |
T |
C |
7: 30,282,656 (GRCm39) |
E1102G |
possibly damaging |
Het |
| Macroh2a1 |
T |
C |
13: 56,276,146 (GRCm39) |
Y39C |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,635,944 (GRCm39) |
N366K |
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,385,510 (GRCm39) |
V35E |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,161,224 (GRCm39) |
F381S |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,336,048 (GRCm39) |
H1474R |
possibly damaging |
Het |
| Mtrf1l |
G |
T |
10: 5,765,620 (GRCm39) |
A239E |
probably damaging |
Het |
| Nbea |
G |
T |
3: 55,625,200 (GRCm39) |
A2297E |
probably damaging |
Het |
| Nectin4 |
A |
G |
1: 171,207,827 (GRCm39) |
E73G |
probably benign |
Het |
| Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
| Nfia |
G |
A |
4: 97,671,742 (GRCm39) |
V151I |
probably damaging |
Het |
| Nol6 |
A |
G |
4: 41,118,717 (GRCm39) |
L720P |
probably damaging |
Het |
| Or6c203 |
A |
G |
10: 129,010,128 (GRCm39) |
F254S |
probably damaging |
Het |
| Or7e165 |
A |
G |
9: 19,694,839 (GRCm39) |
N137D |
possibly damaging |
Het |
| Patj |
A |
G |
4: 98,407,179 (GRCm39) |
E1054G |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,037,325 (GRCm39) |
D1861G |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,241,045 (GRCm39) |
T80A |
probably benign |
Het |
| Scart2 |
A |
G |
7: 139,876,234 (GRCm39) |
S569G |
possibly damaging |
Het |
| Sgsm1 |
C |
A |
5: 113,400,890 (GRCm39) |
R1000L |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,935,516 (GRCm39) |
D199G |
possibly damaging |
Het |
| Suox |
T |
C |
10: 128,506,780 (GRCm39) |
D416G |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,011,531 (GRCm39) |
T38M |
probably damaging |
Het |
| Tcf7l2 |
T |
A |
19: 55,912,975 (GRCm39) |
C421* |
probably null |
Het |
| Tex55 |
C |
T |
16: 38,648,453 (GRCm39) |
D219N |
possibly damaging |
Het |
| Traf7 |
C |
A |
17: 24,732,282 (GRCm39) |
G143* |
probably null |
Het |
| Trmt1 |
G |
A |
8: 85,424,180 (GRCm39) |
V434I |
probably benign |
Het |
| Ttc5 |
T |
C |
14: 51,014,787 (GRCm39) |
H160R |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,521 (GRCm39) |
H1587Q |
probably benign |
Het |
| Zfp523 |
C |
T |
17: 28,420,015 (GRCm39) |
T220M |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,819,362 (GRCm39) |
S1234T |
probably damaging |
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 |
|
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'- TGAGACAGTTTCCCTTGGGG -3'
(R):5'- TGCTTCCAATGCAACACCTG -3'
Sequencing Primer
(F):5'- GACCGGTGGAGAATGCC -3'
(R):5'- AATGCAACACCTGTGTGCTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation