Incidental Mutation 'R4734:Trappc8'
ID |
359201 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trappc8
|
Ensembl Gene |
ENSMUSG00000033382 |
Gene Name |
trafficking protein particle complex 8 |
Synonyms |
5033403J15Rik, D030074E01Rik, Trs85 |
MMRRC Submission |
041961-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.950)
|
Stock # |
R4734 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
20950280-21029150 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 20974629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 900
(R900*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025177]
[ENSMUST00000097658]
[ENSMUST00000225661]
|
AlphaFold |
A0A286YCX6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025177
AA Change: R901*
|
SMART Domains |
Protein: ENSMUSP00000025177 Gene: ENSMUSG00000033382 AA Change: R901*
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: ENSMUST00000097658
|
SMART Domains |
Protein: ENSMUSP00000095262 Gene: ENSMUSG00000033382
Domain | Start | End | E-Value | Type |
Pfam:TRAPPC-Trs85
|
152 |
605 |
9.3e-135 |
PFAM |
low complexity region
|
769 |
777 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157924
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223584
|
Predicted Effect |
probably null
Transcript: ENSMUST00000225661
AA Change: R900*
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(11) : Gene trapped(11) |
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700062C07Rik |
A |
G |
18: 24,603,961 (GRCm39) |
M1V |
probably null |
Het |
Abcb11 |
T |
A |
2: 69,154,306 (GRCm39) |
T87S |
possibly damaging |
Het |
Arap3 |
A |
G |
18: 38,129,328 (GRCm39) |
V210A |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,713,479 (GRCm39) |
S246P |
probably damaging |
Het |
Ccdc88a |
A |
G |
11: 29,432,720 (GRCm39) |
K222R |
probably benign |
Het |
Cdhr18 |
T |
C |
14: 13,845,292 (GRCm38) |
N540S |
probably benign |
Het |
Cfap96 |
A |
T |
8: 46,423,454 (GRCm39) |
M86K |
possibly damaging |
Het |
Chsy3 |
C |
A |
18: 59,312,485 (GRCm39) |
F319L |
probably benign |
Het |
Coro2b |
T |
C |
9: 62,333,860 (GRCm39) |
T345A |
probably benign |
Het |
Cpb1 |
A |
G |
3: 20,317,876 (GRCm39) |
V216A |
probably benign |
Het |
Cyp2c65 |
A |
G |
19: 39,060,778 (GRCm39) |
I213V |
probably benign |
Het |
Dcaf15 |
A |
G |
8: 84,824,357 (GRCm39) |
C586R |
probably benign |
Het |
Ddr2 |
T |
A |
1: 169,825,657 (GRCm39) |
E314D |
probably benign |
Het |
Dennd5a |
C |
T |
7: 109,495,543 (GRCm39) |
R1196H |
probably damaging |
Het |
Dnah9 |
G |
A |
11: 65,724,941 (GRCm39) |
A4404V |
probably damaging |
Het |
Dpf2 |
A |
G |
19: 5,957,027 (GRCm39) |
|
probably null |
Het |
Eif2ak4 |
A |
T |
2: 118,252,568 (GRCm39) |
H302L |
probably damaging |
Het |
Eif2d |
G |
T |
1: 131,092,889 (GRCm39) |
R399L |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,202,294 (GRCm39) |
V260A |
probably benign |
Het |
Fhod3 |
T |
A |
18: 25,161,192 (GRCm39) |
Y575N |
probably benign |
Het |
Fscb |
T |
C |
12: 64,521,244 (GRCm39) |
E74G |
possibly damaging |
Het |
Gdpd2 |
G |
A |
X: 99,777,799 (GRCm39) |
M243I |
possibly damaging |
Het |
Glra1 |
C |
A |
11: 55,427,210 (GRCm39) |
D42Y |
probably damaging |
Het |
Gnl2 |
T |
C |
4: 124,934,811 (GRCm39) |
F156L |
probably benign |
Het |
Gpr37 |
C |
A |
6: 25,689,085 (GRCm39) |
R4L |
possibly damaging |
Het |
Hectd4 |
A |
T |
5: 121,480,040 (GRCm39) |
H2892L |
possibly damaging |
Het |
Helb |
T |
C |
10: 119,920,754 (GRCm39) |
D1063G |
probably benign |
Het |
Htr2c |
A |
G |
X: 145,976,793 (GRCm39) |
T163A |
probably benign |
Het |
Impact |
T |
A |
18: 13,118,346 (GRCm39) |
H188Q |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lnx2 |
C |
T |
5: 146,965,947 (GRCm39) |
G391R |
probably damaging |
Het |
Lrrc19 |
T |
C |
4: 94,526,586 (GRCm39) |
I324V |
probably benign |
Het |
Lrrcc1 |
G |
T |
3: 14,627,345 (GRCm39) |
Q458H |
probably damaging |
Het |
Maml3 |
A |
T |
3: 51,597,296 (GRCm39) |
D483E |
probably damaging |
Het |
Mef2c |
T |
A |
13: 83,810,748 (GRCm39) |
*467R |
probably null |
Het |
Mms19 |
T |
A |
19: 41,932,997 (GRCm39) |
S1031C |
probably damaging |
Het |
Myt1l |
T |
C |
12: 29,969,925 (GRCm39) |
I143T |
possibly damaging |
Het |
Nuggc |
T |
C |
14: 65,860,679 (GRCm39) |
Y426H |
probably damaging |
Het |
Oit3 |
A |
T |
10: 59,259,904 (GRCm39) |
C500S |
probably damaging |
Het |
Oog2 |
T |
C |
4: 143,923,021 (GRCm39) |
S429P |
probably benign |
Het |
Or4d1 |
T |
A |
11: 87,805,016 (GRCm39) |
T239S |
probably damaging |
Het |
Or51f1 |
A |
G |
7: 102,506,186 (GRCm39) |
I101T |
probably damaging |
Het |
Or5p1 |
A |
T |
7: 107,916,959 (GRCm39) |
N286I |
probably damaging |
Het |
Or5p51 |
T |
C |
7: 107,444,635 (GRCm39) |
I102V |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,273,040 (GRCm39) |
D93G |
probably benign |
Het |
Pdia5 |
A |
T |
16: 35,276,883 (GRCm39) |
M95K |
probably benign |
Het |
Pdzrn4 |
A |
T |
15: 92,668,133 (GRCm39) |
R762* |
probably null |
Het |
Piezo1 |
G |
T |
8: 123,224,945 (GRCm39) |
Q654K |
probably damaging |
Het |
Ppil3 |
A |
G |
1: 58,470,428 (GRCm39) |
Y141H |
probably benign |
Het |
Prb1c |
T |
A |
6: 132,338,891 (GRCm39) |
N109I |
unknown |
Het |
Rassf8 |
G |
T |
6: 145,761,266 (GRCm39) |
K197N |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,752,639 (GRCm39) |
Q1894R |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,740,847 (GRCm39) |
N487Y |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,368,604 (GRCm39) |
Y307C |
probably damaging |
Het |
Sdad1 |
C |
T |
5: 92,452,836 (GRCm39) |
R134Q |
possibly damaging |
Het |
Shroom1 |
C |
T |
11: 53,356,060 (GRCm39) |
S370F |
probably damaging |
Het |
Slc29a3 |
A |
G |
10: 60,552,105 (GRCm39) |
V313A |
probably benign |
Het |
Slc2a9 |
C |
A |
5: 38,539,442 (GRCm39) |
G353C |
probably damaging |
Het |
Snx33 |
T |
A |
9: 56,833,185 (GRCm39) |
T295S |
possibly damaging |
Het |
Spata31d1b |
G |
A |
13: 59,866,172 (GRCm39) |
V1107M |
probably damaging |
Het |
Supt6 |
T |
C |
11: 78,115,509 (GRCm39) |
D761G |
probably benign |
Het |
Tfeb |
T |
C |
17: 48,096,787 (GRCm39) |
V18A |
probably benign |
Het |
Thap12 |
G |
T |
7: 98,365,161 (GRCm39) |
C443F |
probably damaging |
Het |
Thap12 |
T |
A |
7: 98,365,162 (GRCm39) |
C443* |
probably null |
Het |
Tmem67 |
T |
C |
4: 12,063,158 (GRCm39) |
D496G |
probably benign |
Het |
Trim9 |
T |
C |
12: 70,295,047 (GRCm39) |
N688D |
probably damaging |
Het |
Trmt1l |
A |
T |
1: 151,318,388 (GRCm39) |
I80L |
probably benign |
Het |
Trpm5 |
C |
A |
7: 142,636,522 (GRCm39) |
V472L |
probably benign |
Het |
Tspear |
C |
T |
10: 77,700,529 (GRCm39) |
L120F |
probably damaging |
Het |
Ttc9b |
G |
A |
7: 27,355,443 (GRCm39) |
V238M |
probably benign |
Het |
Usp20 |
A |
G |
2: 30,909,836 (GRCm39) |
I819V |
probably benign |
Het |
Vmn2r102 |
T |
A |
17: 19,897,795 (GRCm39) |
V270E |
probably damaging |
Het |
Vmn2r63 |
C |
T |
7: 42,577,544 (GRCm39) |
M331I |
probably benign |
Het |
Zc3h18 |
A |
T |
8: 123,110,382 (GRCm39) |
D77V |
probably damaging |
Het |
Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
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 |
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'- AACCTAGCAATGCAGAGGC -3'
(R):5'- GTTACTCAGCAATTGCCTGG -3'
Sequencing Primer
(F):5'- GGATCTCTGTAAGTTCAAGGTCATC -3'
(R):5'- CAGCAATTGCCTGGAATTTTTCTG -3'
|
Posted On |
2015-11-11 |