Incidental Mutation 'R5262:Trappc8'
| ID |
401531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc8
|
| Ensembl Gene |
ENSMUSG00000033382 |
| Gene Name |
trafficking protein particle complex 8 |
| Synonyms |
5033403J15Rik, D030074E01Rik, Trs85 |
| MMRRC Submission |
042857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R5262 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
20950280-21029150 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 20951247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 1400
(V1400I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025177]
[ENSMUST00000225661]
|
| AlphaFold |
A0A286YCX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025177
AA Change: V1401I
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000025177
Gene: ENSMUSG00000033382
AA Change: V1401I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRAPPC-Trs85
|
157 |
604 |
1e-167 |
PFAM |
|
low complexity region
|
769 |
777 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225661
AA Change: V1400I
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.0760 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
All alleles(11) : Gene trapped(11) |
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
T |
A |
4: 126,390,557 (GRCm39) |
D821V |
possibly damaging |
Het |
| Ankdd1b |
C |
A |
13: 96,557,281 (GRCm39) |
R384L |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,950,586 (GRCm39) |
F65S |
probably damaging |
Het |
| Cfap53 |
A |
C |
18: 74,462,530 (GRCm39) |
S425R |
probably benign |
Het |
| Corin |
A |
G |
5: 72,462,298 (GRCm39) |
V837A |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,502,572 (GRCm39) |
V188E |
probably damaging |
Het |
| Defb26 |
A |
T |
2: 152,349,878 (GRCm39) |
M134K |
unknown |
Het |
| Dnah10 |
A |
C |
5: 124,862,220 (GRCm39) |
K2158N |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 66,003,159 (GRCm39) |
V882M |
probably benign |
Het |
| Dpyd |
C |
A |
3: 118,591,071 (GRCm39) |
Y186* |
probably null |
Het |
| Elovl1 |
G |
A |
4: 118,288,124 (GRCm39) |
|
probably benign |
Het |
| Fars2 |
T |
A |
13: 36,526,001 (GRCm39) |
I329N |
probably damaging |
Het |
| Gstm1 |
T |
A |
3: 107,923,679 (GRCm39) |
M109L |
probably benign |
Het |
| Gtf2e1 |
T |
C |
16: 37,356,293 (GRCm39) |
T80A |
probably damaging |
Het |
| Gtf2h2 |
A |
G |
13: 100,618,356 (GRCm39) |
|
probably benign |
Het |
| Hrh4 |
G |
T |
18: 13,148,870 (GRCm39) |
L77F |
probably damaging |
Het |
| Ifi47 |
A |
G |
11: 48,986,559 (GRCm39) |
T109A |
probably benign |
Het |
| Igsf5 |
G |
T |
16: 96,192,237 (GRCm39) |
E179* |
probably null |
Het |
| Ints8 |
A |
G |
4: 11,211,916 (GRCm39) |
I885T |
probably damaging |
Het |
| Iqgap1 |
T |
G |
7: 80,376,490 (GRCm39) |
I1341L |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,269,219 (GRCm39) |
L2567P |
probably damaging |
Het |
| Lilrb4a |
T |
C |
10: 51,369,303 (GRCm39) |
|
probably null |
Het |
| Maip1 |
G |
A |
1: 57,446,131 (GRCm39) |
R67H |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,237,375 (GRCm39) |
I254F |
possibly damaging |
Het |
| Nfkb1 |
A |
T |
3: 135,318,173 (GRCm39) |
|
probably null |
Het |
| Nlrp4a |
T |
C |
7: 26,159,236 (GRCm39) |
|
probably null |
Het |
| Nrap |
A |
T |
19: 56,308,655 (GRCm39) |
I1477N |
possibly damaging |
Het |
| Pdgfa |
A |
G |
5: 138,979,049 (GRCm39) |
S52P |
probably benign |
Het |
| Pou1f1 |
G |
T |
16: 65,328,868 (GRCm39) |
E196* |
probably null |
Het |
| Ppp2r5e |
G |
A |
12: 75,640,045 (GRCm39) |
R19W |
probably damaging |
Het |
| Ptn |
T |
A |
6: 36,721,419 (GRCm39) |
Q7L |
probably benign |
Het |
| Rbp3 |
G |
T |
14: 33,676,807 (GRCm39) |
A252S |
probably damaging |
Het |
| Rcor2 |
G |
T |
19: 7,251,426 (GRCm39) |
V313L |
probably damaging |
Het |
| Rtp3 |
A |
T |
9: 110,815,195 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,787,323 (GRCm39) |
T1017A |
probably damaging |
Het |
| Scgb2b11 |
T |
C |
7: 31,908,776 (GRCm39) |
N108S |
probably benign |
Het |
| Sgo2b |
C |
A |
8: 64,396,171 (GRCm39) |
L28F |
probably damaging |
Het |
| Shroom3 |
A |
G |
5: 93,112,432 (GRCm39) |
E1850G |
probably damaging |
Het |
| Slc16a14 |
A |
G |
1: 84,890,612 (GRCm39) |
L231P |
probably benign |
Het |
| Slfn5 |
A |
G |
11: 82,847,496 (GRCm39) |
E127G |
possibly damaging |
Het |
| Snx16 |
C |
T |
3: 10,502,892 (GRCm39) |
M118I |
probably damaging |
Het |
| Snx21 |
T |
C |
2: 164,633,741 (GRCm39) |
F176L |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,432,990 (GRCm39) |
N424S |
probably benign |
Het |
| Tcf7l1 |
T |
C |
6: 72,613,449 (GRCm39) |
|
probably benign |
Het |
| Trim58 |
T |
C |
11: 58,542,494 (GRCm39) |
Y485H |
possibly damaging |
Het |
| U2af1l4 |
C |
T |
7: 30,263,638 (GRCm39) |
T65I |
probably benign |
Het |
| Ufl1 |
G |
T |
4: 25,251,294 (GRCm39) |
|
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,593,031 (GRCm39) |
N762S |
probably damaging |
Het |
| Virma |
A |
T |
4: 11,539,926 (GRCm39) |
D1465V |
probably benign |
Het |
| Vmn1r48 |
A |
T |
6: 90,013,016 (GRCm39) |
S270T |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,541,697 (GRCm39) |
Y9F |
possibly damaging |
Het |
| Wwp1 |
A |
G |
4: 19,631,057 (GRCm39) |
F659L |
probably damaging |
Het |
| Zbtb24 |
C |
T |
10: 41,340,556 (GRCm39) |
Q529* |
probably null |
Het |
| Zranb1 |
CTGATGATGATG |
CTGATGATGATGATG |
7: 132,584,556 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Trappc8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01077:Trappc8
|
APN |
18 |
20,970,035 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01367:Trappc8
|
APN |
18 |
20,999,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01537:Trappc8
|
APN |
18 |
20,968,061 (GRCm39) |
missense |
probably benign |
|
|
IGL01563:Trappc8
|
APN |
18 |
20,970,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01982:Trappc8
|
APN |
18 |
21,007,769 (GRCm39) |
splice site |
probably benign |
|
|
IGL02709:Trappc8
|
APN |
18 |
20,970,235 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03126:Trappc8
|
APN |
18 |
20,996,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03290:Trappc8
|
APN |
18 |
20,953,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03348:Trappc8
|
APN |
18 |
20,985,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
hoppa
|
UTSW |
18 |
20,969,957 (GRCm39) |
missense |
probably benign |
0.05 |
|
Lagomorpha
|
UTSW |
18 |
20,951,247 (GRCm39) |
missense |
probably benign |
0.11 |
|
rabbit
|
UTSW |
18 |
21,007,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
E7848:Trappc8
|
UTSW |
18 |
20,983,975 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0483:Trappc8
|
UTSW |
18 |
20,978,658 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0492:Trappc8
|
UTSW |
18 |
20,999,243 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0506:Trappc8
|
UTSW |
18 |
20,977,245 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0610:Trappc8
|
UTSW |
18 |
20,970,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0892:Trappc8
|
UTSW |
18 |
20,964,665 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1561:Trappc8
|
UTSW |
18 |
20,974,680 (GRCm39) |
nonsense |
probably null |
|
|
R1589:Trappc8
|
UTSW |
18 |
20,996,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1700:Trappc8
|
UTSW |
18 |
20,966,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Trappc8
|
UTSW |
18 |
20,967,997 (GRCm39) |
splice site |
probably null |
|
|
R1786:Trappc8
|
UTSW |
18 |
20,967,997 (GRCm39) |
splice site |
probably null |
|
|
R1989:Trappc8
|
UTSW |
18 |
20,978,708 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2181:Trappc8
|
UTSW |
18 |
20,952,279 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2294:Trappc8
|
UTSW |
18 |
20,999,211 (GRCm39) |
nonsense |
probably null |
|
|
R4551:Trappc8
|
UTSW |
18 |
21,007,729 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4594:Trappc8
|
UTSW |
18 |
20,970,005 (GRCm39) |
missense |
probably benign |
|
|
R4631:Trappc8
|
UTSW |
18 |
21,000,865 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4734:Trappc8
|
UTSW |
18 |
20,974,629 (GRCm39) |
nonsense |
probably null |
|
|
R4834:Trappc8
|
UTSW |
18 |
20,958,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5114:Trappc8
|
UTSW |
18 |
20,977,237 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5384:Trappc8
|
UTSW |
18 |
20,966,119 (GRCm39) |
splice site |
probably null |
|
|
R5476:Trappc8
|
UTSW |
18 |
20,998,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Trappc8
|
UTSW |
18 |
20,969,957 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5577:Trappc8
|
UTSW |
18 |
20,969,836 (GRCm39) |
nonsense |
probably null |
|
|
R5809:Trappc8
|
UTSW |
18 |
20,951,139 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5825:Trappc8
|
UTSW |
18 |
21,006,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5886:Trappc8
|
UTSW |
18 |
21,007,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Trappc8
|
UTSW |
18 |
21,007,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6024:Trappc8
|
UTSW |
18 |
20,966,066 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6105:Trappc8
|
UTSW |
18 |
20,979,504 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6229:Trappc8
|
UTSW |
18 |
21,003,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6376:Trappc8
|
UTSW |
18 |
20,970,132 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6403:Trappc8
|
UTSW |
18 |
20,999,128 (GRCm39) |
missense |
probably benign |
|
|
R6459:Trappc8
|
UTSW |
18 |
20,969,925 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6673:Trappc8
|
UTSW |
18 |
21,018,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7041:Trappc8
|
UTSW |
18 |
21,007,729 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7276:Trappc8
|
UTSW |
18 |
20,951,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7341:Trappc8
|
UTSW |
18 |
20,985,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7684:Trappc8
|
UTSW |
18 |
20,996,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7702:Trappc8
|
UTSW |
18 |
20,958,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8210:Trappc8
|
UTSW |
18 |
21,006,938 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8958:Trappc8
|
UTSW |
18 |
21,003,667 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9037:Trappc8
|
UTSW |
18 |
20,961,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9217:Trappc8
|
UTSW |
18 |
21,000,822 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9246:Trappc8
|
UTSW |
18 |
20,993,590 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9623:Trappc8
|
UTSW |
18 |
20,983,975 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9766:Trappc8
|
UTSW |
18 |
20,979,630 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
X0065:Trappc8
|
UTSW |
18 |
20,993,579 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Trappc8
|
UTSW |
18 |
20,964,720 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTGCTGTAAAACCAATTCC -3'
(R):5'- CCAAGAGGTTAAGAGCTAAGTTTC -3'
Sequencing Primer
(F):5'- TCCACAAAGTCAAACTGAGTCTGTG -3'
(R):5'- AGAGCTAAGTTTCAAATCATGCTTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation