Incidental Mutation 'R4594:Trappc8'
ID |
344300 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trappc8
|
Ensembl Gene |
ENSMUSG00000033382 |
Gene Name |
trafficking protein particle complex 8 |
Synonyms |
5033403J15Rik, D030074E01Rik, Trs85 |
MMRRC Submission |
041810-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.953)
|
Stock # |
R4594 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
20950280-21029150 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 20970005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 995
(V995E)
|
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: V996E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025177 Gene: ENSMUSG00000033382 AA Change: V996E
Domain | Start | End | E-Value | Type |
Pfam:TRAPPC-Trs85
|
157 |
604 |
1e-167 |
PFAM |
low complexity region
|
769 |
777 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225502
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225661
AA Change: V995E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
All alleles(11) : Gene trapped(11) |
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
A |
G |
5: 3,625,754 (GRCm39) |
T64A |
probably damaging |
Het |
4933427I04Rik |
A |
T |
4: 123,754,331 (GRCm39) |
T82S |
possibly damaging |
Het |
Adamts15 |
A |
T |
9: 30,832,743 (GRCm39) |
I264N |
probably damaging |
Het |
Alpk1 |
G |
A |
3: 127,477,203 (GRCm39) |
A285V |
probably damaging |
Het |
Auh |
T |
C |
13: 53,067,002 (GRCm39) |
|
probably benign |
Het |
Cacna2d3 |
A |
G |
14: 28,704,303 (GRCm39) |
F826S |
probably benign |
Het |
Ccdc54 |
G |
T |
16: 50,410,380 (GRCm39) |
Y295* |
probably null |
Het |
Ctnna3 |
G |
A |
10: 64,421,858 (GRCm39) |
V551I |
probably benign |
Het |
Diaph3 |
C |
T |
14: 87,223,473 (GRCm39) |
C347Y |
probably damaging |
Het |
Dnajb5 |
A |
G |
4: 42,950,842 (GRCm39) |
|
probably benign |
Het |
Dscam |
A |
T |
16: 96,519,196 (GRCm39) |
I847K |
possibly damaging |
Het |
Fam8a1 |
T |
C |
13: 46,824,742 (GRCm39) |
F243S |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,175,578 (GRCm39) |
I1712V |
possibly damaging |
Het |
Fgfr1 |
T |
C |
8: 26,063,852 (GRCm39) |
V793A |
probably damaging |
Het |
Got2 |
T |
C |
8: 96,598,814 (GRCm39) |
E196G |
probably benign |
Het |
Gsk3b |
G |
A |
16: 37,991,063 (GRCm39) |
C107Y |
possibly damaging |
Het |
H2-M5 |
T |
C |
17: 37,298,697 (GRCm39) |
T250A |
possibly damaging |
Het |
Il17f |
T |
A |
1: 20,848,026 (GRCm39) |
T151S |
probably damaging |
Het |
Ints12 |
A |
G |
3: 132,814,629 (GRCm39) |
N279D |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kynu |
T |
A |
2: 43,569,902 (GRCm39) |
S395T |
probably benign |
Het |
Llgl1 |
C |
T |
11: 60,597,147 (GRCm39) |
T226I |
probably benign |
Het |
Mael |
T |
A |
1: 166,063,056 (GRCm39) |
Q132L |
probably damaging |
Het |
Mcpt1 |
A |
T |
14: 56,256,109 (GRCm39) |
R49S |
probably benign |
Het |
Meioc |
G |
T |
11: 102,564,992 (GRCm39) |
G203C |
probably damaging |
Het |
Mfsd4b1 |
A |
G |
10: 39,883,313 (GRCm39) |
S46P |
probably benign |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Mx2 |
C |
A |
16: 97,348,632 (GRCm39) |
Y268* |
probably null |
Het |
Myom1 |
A |
G |
17: 71,407,069 (GRCm39) |
D1064G |
possibly damaging |
Het |
Nek11 |
A |
G |
9: 105,270,046 (GRCm39) |
|
probably null |
Het |
Nfe2 |
A |
G |
15: 103,157,232 (GRCm39) |
L253S |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,173,424 (GRCm39) |
I478T |
probably benign |
Het |
Nxpe2 |
T |
C |
9: 48,230,782 (GRCm39) |
D529G |
probably damaging |
Het |
Oard1 |
T |
C |
17: 48,722,267 (GRCm39) |
S88P |
possibly damaging |
Het |
Or11g25 |
A |
G |
14: 50,723,619 (GRCm39) |
R235G |
probably benign |
Het |
Or2p2 |
C |
T |
13: 21,256,692 (GRCm39) |
V260I |
probably benign |
Het |
Or4n4 |
G |
A |
14: 50,519,140 (GRCm39) |
T190I |
probably benign |
Het |
Or51k1 |
T |
C |
7: 103,661,624 (GRCm39) |
D95G |
probably benign |
Het |
Or52e5 |
T |
C |
7: 104,718,797 (GRCm39) |
V41A |
probably benign |
Het |
Or6k6 |
G |
T |
1: 173,944,886 (GRCm39) |
T232N |
probably damaging |
Het |
Or8b1 |
A |
C |
9: 38,400,057 (GRCm39) |
H244P |
probably damaging |
Het |
Osgin1 |
C |
T |
8: 120,171,992 (GRCm39) |
T262I |
possibly damaging |
Het |
Plcb4 |
A |
T |
2: 135,844,519 (GRCm39) |
M146L |
probably damaging |
Het |
Prkdc |
A |
T |
16: 15,585,830 (GRCm39) |
E2456V |
possibly damaging |
Het |
Ptk2 |
G |
A |
15: 73,078,045 (GRCm39) |
A1004V |
probably damaging |
Het |
Rab15 |
G |
A |
12: 76,847,445 (GRCm39) |
|
probably benign |
Het |
Rad51ap2 |
T |
C |
12: 11,507,881 (GRCm39) |
V601A |
probably benign |
Het |
Rasef |
T |
A |
4: 73,698,626 (GRCm39) |
I12F |
possibly damaging |
Het |
Rdh14 |
T |
A |
12: 10,444,567 (GRCm39) |
N139K |
probably damaging |
Het |
Rexo2 |
A |
T |
9: 48,391,717 (GRCm39) |
V46E |
probably damaging |
Het |
Rskr |
T |
A |
11: 78,182,473 (GRCm39) |
V94D |
possibly damaging |
Het |
Slmap |
A |
T |
14: 26,186,772 (GRCm39) |
L68H |
probably damaging |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Tmem132e |
T |
C |
11: 82,325,894 (GRCm39) |
I206T |
possibly damaging |
Het |
Vmn2r12 |
A |
C |
5: 109,234,301 (GRCm39) |
I637S |
probably damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,294,231 (GRCm39) |
F773L |
probably damaging |
Het |
Vmn2r99 |
A |
T |
17: 19,613,924 (GRCm39) |
D548V |
probably damaging |
Het |
Wdr81 |
T |
C |
11: 75,336,620 (GRCm39) |
N1590D |
probably benign |
Het |
Zbtb6 |
A |
T |
2: 37,319,054 (GRCm39) |
N291K |
possibly damaging |
Het |
Zfp119a |
G |
A |
17: 56,173,325 (GRCm39) |
R173C |
probably benign |
Het |
Zmynd15 |
T |
C |
11: 70,355,008 (GRCm39) |
L335P |
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 |
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 |
|
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'- CCTAGAAATGTTGGGCTTCATATTC -3'
(R):5'- AATGTCAGCAAATGTCCTCTGAC -3'
Sequencing Primer
(F):5'- GACATCATTCATAATTCGGAAGATGG -3'
(R):5'- CCTCTGACTGGACTGAAAGTTG -3'
|
Posted On |
2015-09-25 |