Incidental Mutation 'R5809:Trappc8'
| ID |
448946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc8
|
| Ensembl Gene |
ENSMUSG00000033382 |
| Gene Name |
trafficking protein particle complex 8 |
| Synonyms |
5033403J15Rik, D030074E01Rik, Trs85 |
| MMRRC Submission |
043394-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R5809 (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 20951139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1436
(A1436T)
|
| 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: A1437T
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000025177
Gene: ENSMUSG00000033382
AA Change: A1437T
| 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: A1436T
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
All alleles(11) : Gene trapped(11) |
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
A |
G |
8: 12,329,556 (GRCm39) |
S4G |
unknown |
Het |
| AA623943 |
T |
C |
11: 94,703,828 (GRCm39) |
|
noncoding transcript |
Het |
| Abca13 |
T |
A |
11: 9,243,692 (GRCm39) |
S1852T |
probably damaging |
Het |
| Ackr2 |
G |
A |
9: 121,738,540 (GRCm39) |
C305Y |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,820,257 (GRCm39) |
V411A |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,054,270 (GRCm39) |
R269H |
probably benign |
Het |
| Alox15 |
C |
A |
11: 70,241,708 (GRCm39) |
G58W |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,385,856 (GRCm39) |
N369S |
probably damaging |
Het |
| Ankrd28 |
T |
A |
14: 31,465,311 (GRCm39) |
I289L |
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,252,805 (GRCm39) |
T714S |
possibly damaging |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Blm |
A |
T |
7: 80,114,592 (GRCm39) |
L1159Q |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,723,521 (GRCm39) |
V770I |
probably benign |
Het |
| Ccdc148 |
T |
A |
2: 58,713,657 (GRCm39) |
H498L |
probably damaging |
Het |
| Cdh26 |
T |
A |
2: 178,101,919 (GRCm39) |
Y179* |
probably null |
Het |
| Cela2a |
T |
A |
4: 141,552,864 (GRCm39) |
T38S |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,809,087 (GRCm39) |
N496K |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,117,151 (GRCm39) |
Y251C |
probably damaging |
Het |
| Cluh |
T |
C |
11: 74,552,526 (GRCm39) |
S524P |
probably damaging |
Het |
| Cpeb4 |
T |
C |
11: 31,822,801 (GRCm39) |
S172P |
probably damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,847,523 (GRCm39) |
S705P |
probably damaging |
Het |
| Dock2 |
T |
G |
11: 34,212,445 (GRCm39) |
D1232A |
probably benign |
Het |
| Donson |
T |
C |
16: 91,484,738 (GRCm39) |
N9S |
possibly damaging |
Het |
| Gdf9 |
T |
C |
11: 53,324,381 (GRCm39) |
L50P |
probably benign |
Het |
| Gm10300 |
C |
T |
4: 131,802,458 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
A |
G |
19: 11,482,248 (GRCm39) |
|
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,924 (GRCm39) |
|
noncoding transcript |
Het |
| Hepacam |
T |
A |
9: 37,296,101 (GRCm39) |
S417R |
possibly damaging |
Het |
| Hibch |
T |
A |
1: 52,892,859 (GRCm39) |
L23Q |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,525,358 (GRCm39) |
R3389C |
probably damaging |
Het |
| Hsp90ab1 |
G |
T |
17: 45,881,575 (GRCm39) |
|
probably benign |
Het |
| Hunk |
C |
A |
16: 90,272,791 (GRCm39) |
T365K |
probably damaging |
Het |
| Il12a |
A |
T |
3: 68,602,595 (GRCm39) |
|
probably benign |
Het |
| Ints13 |
A |
G |
6: 146,477,847 (GRCm39) |
V34A |
probably benign |
Het |
| Intu |
A |
C |
3: 40,634,020 (GRCm39) |
M418L |
probably damaging |
Het |
| Khdc4 |
A |
G |
3: 88,616,192 (GRCm39) |
R460G |
probably damaging |
Het |
| Klra9 |
A |
G |
6: 130,156,036 (GRCm39) |
S240P |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Ndrg1 |
A |
G |
15: 66,802,699 (GRCm39) |
|
probably benign |
Het |
| Or11g24 |
T |
C |
14: 50,662,905 (GRCm39) |
*310Q |
probably null |
Het |
| Or5k17 |
T |
C |
16: 58,746,860 (GRCm39) |
T25A |
probably benign |
Het |
| Pate6 |
C |
T |
9: 35,700,297 (GRCm39) |
C96Y |
probably damaging |
Het |
| Pax7 |
A |
G |
4: 139,557,682 (GRCm39) |
S30P |
probably damaging |
Het |
| Pdcd11 |
A |
T |
19: 47,082,247 (GRCm39) |
T54S |
probably benign |
Het |
| Pex19 |
T |
C |
1: 171,958,306 (GRCm39) |
V95A |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,383,103 (GRCm39) |
I1121V |
probably benign |
Het |
| Pklr |
A |
T |
3: 89,049,091 (GRCm39) |
I146F |
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,104,164 (GRCm39) |
Y278H |
possibly damaging |
Het |
| Plcl1 |
T |
A |
1: 55,735,160 (GRCm39) |
I167N |
probably damaging |
Het |
| Plekhh1 |
A |
T |
12: 79,125,461 (GRCm39) |
I1241F |
probably benign |
Het |
| Plxnb2 |
G |
T |
15: 89,051,774 (GRCm39) |
D148E |
possibly damaging |
Het |
| Pthlh |
T |
C |
6: 147,158,745 (GRCm39) |
I72V |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,513,067 (GRCm39) |
R880Q |
probably benign |
Het |
| Rrp36 |
T |
C |
17: 46,978,932 (GRCm39) |
K209E |
probably damaging |
Het |
| Scarb1 |
A |
G |
5: 125,381,286 (GRCm39) |
V86A |
probably damaging |
Het |
| Sh2d7 |
A |
C |
9: 54,446,860 (GRCm39) |
S37R |
probably benign |
Het |
| Slc13a2 |
A |
T |
11: 78,288,647 (GRCm39) |
V543E |
probably damaging |
Het |
| Smarcal1 |
A |
G |
1: 72,630,296 (GRCm39) |
T117A |
probably benign |
Het |
| Smok2a |
A |
G |
17: 13,445,865 (GRCm39) |
R481G |
possibly damaging |
Het |
| Smr2 |
G |
A |
5: 88,256,699 (GRCm39) |
A126T |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,436,979 (GRCm39) |
W1304C |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,116,524 (GRCm39) |
S909P |
possibly damaging |
Het |
| Tchh |
A |
T |
3: 93,352,880 (GRCm39) |
K773N |
unknown |
Het |
| Tmem156 |
T |
C |
5: 65,232,950 (GRCm39) |
N140S |
possibly damaging |
Het |
| Tmem213 |
T |
C |
6: 38,092,589 (GRCm39) |
I107T |
possibly damaging |
Het |
| Tpd52l2 |
A |
G |
2: 181,153,372 (GRCm39) |
Y161C |
probably damaging |
Het |
| Ubr3 |
A |
G |
2: 69,795,855 (GRCm39) |
Y933C |
possibly damaging |
Het |
| Ufm1 |
A |
T |
3: 53,765,303 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,103,931 (GRCm39) |
L725Q |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,345,035 (GRCm39) |
D1138G |
possibly damaging |
Het |
| Zkscan16 |
G |
A |
4: 58,946,481 (GRCm39) |
V119M |
probably damaging |
Het |
| Zmat5 |
A |
G |
11: 4,672,431 (GRCm39) |
D16G |
probably damaging |
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 |
|
R5262:Trappc8
|
UTSW |
18 |
20,951,247 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
|
|
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'- TAAGTTGCAACAGCAGACTTGG -3'
(R):5'- TCCAGCTGAAAAGCCAAGAG -3'
Sequencing Primer
(F):5'- GACACGGCTTAATAAGGTTTATGG -3'
(R):5'- GCCAAGAGATGCACAGTTTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation