Incidental Mutation 'R9217:Trappc8'
| ID |
699281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc8
|
| Ensembl Gene |
ENSMUSG00000033382 |
| Gene Name |
trafficking protein particle complex 8 |
| Synonyms |
5033403J15Rik, D030074E01Rik, Trs85 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R9217 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
20950280-21029150 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21000822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 287
(V287A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025177]
[ENSMUST00000097658]
[ENSMUST00000224530]
[ENSMUST00000225661]
|
| AlphaFold |
A0A286YCX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025177
AA Change: V287A
PolyPhen 2
Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025177
Gene: ENSMUSG00000033382
AA Change: V287A
| 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
AA Change: V287A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000095262
Gene: ENSMUSG00000033382
AA Change: V287A
| 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 |
probably benign
Transcript: ENSMUST00000224530
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225661
AA Change: V287A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
97% (59/61) |
| Allele List at MGI |
All alleles(11) : Gene trapped(11) |
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
C |
6: 92,808,967 (GRCm39) |
V98A |
unknown |
Het |
| Abca15 |
A |
T |
7: 119,987,439 (GRCm39) |
M1242L |
probably benign |
Het |
| Abcb9 |
G |
A |
5: 124,214,090 (GRCm39) |
R576C |
possibly damaging |
Het |
| Abl2 |
A |
G |
1: 156,452,902 (GRCm39) |
S146G |
probably damaging |
Het |
| Aga |
G |
A |
8: 53,966,627 (GRCm39) |
G60S |
probably damaging |
Het |
| Amigo1 |
T |
A |
3: 108,095,944 (GRCm39) |
V481D |
probably damaging |
Het |
| Ano5 |
C |
A |
7: 51,243,415 (GRCm39) |
P846Q |
probably damaging |
Het |
| Ccdc62 |
C |
A |
5: 124,092,470 (GRCm39) |
T485K |
probably benign |
Het |
| Cd177 |
A |
T |
7: 24,445,550 (GRCm39) |
I631K |
possibly damaging |
Het |
| Chil6 |
T |
A |
3: 106,313,411 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,717,441 (GRCm39) |
S1283P |
probably damaging |
Het |
| Cpt1a |
G |
A |
19: 3,425,111 (GRCm39) |
V493I |
probably benign |
Het |
| Dcbld1 |
T |
A |
10: 52,138,028 (GRCm39) |
D97E |
probably benign |
Het |
| Decr1 |
G |
A |
4: 15,930,969 (GRCm39) |
P121L |
probably damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,729,578 (GRCm39) |
L661Q |
probably benign |
Het |
| Eif2d |
A |
G |
1: 131,085,972 (GRCm39) |
M156V |
possibly damaging |
Het |
| Ermn |
A |
T |
2: 57,938,010 (GRCm39) |
I201K |
probably damaging |
Het |
| Etfbkmt |
T |
C |
6: 149,045,663 (GRCm39) |
C6R |
probably benign |
Het |
| Evx2 |
A |
T |
2: 74,488,109 (GRCm39) |
|
probably null |
Het |
| Fam222a |
T |
C |
5: 114,748,905 (GRCm39) |
S34P |
probably benign |
Het |
| Fmo6 |
A |
T |
1: 162,748,046 (GRCm39) |
D339E |
probably benign |
Het |
| Fubp1 |
T |
C |
3: 151,923,873 (GRCm39) |
S142P |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gnb1 |
A |
T |
4: 155,625,033 (GRCm39) |
Q75L |
probably damaging |
Het |
| Gucy2e |
C |
T |
11: 69,126,778 (GRCm39) |
A232T |
possibly damaging |
Het |
| Haspin |
A |
T |
11: 73,026,936 (GRCm39) |
C718S |
probably benign |
Het |
| Iqcd |
C |
T |
5: 120,738,707 (GRCm39) |
P175L |
possibly damaging |
Het |
| Jph1 |
T |
A |
1: 17,167,632 (GRCm39) |
Q66L |
probably benign |
Het |
| Kank1 |
G |
T |
19: 25,386,944 (GRCm39) |
D206Y |
possibly damaging |
Het |
| Klf14 |
T |
C |
6: 30,935,470 (GRCm39) |
T55A |
probably benign |
Het |
| Lclat1 |
T |
C |
17: 73,494,879 (GRCm39) |
M125T |
probably damaging |
Het |
| Lgr5 |
T |
A |
10: 115,423,349 (GRCm39) |
Q17L |
probably benign |
Het |
| Lrmda |
A |
G |
14: 22,648,361 (GRCm39) |
I64V |
unknown |
Het |
| Lrrc15 |
A |
G |
16: 30,092,415 (GRCm39) |
L308P |
probably damaging |
Het |
| Lyst |
C |
A |
13: 13,871,245 (GRCm39) |
Q2661K |
probably benign |
Het |
| Map3k21 |
T |
A |
8: 126,638,027 (GRCm39) |
D204E |
possibly damaging |
Het |
| Msln |
T |
C |
17: 25,970,125 (GRCm39) |
I277V |
probably benign |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Nup153 |
G |
A |
13: 46,835,138 (GRCm39) |
T1389M |
probably damaging |
Het |
| Or8c10 |
A |
G |
9: 38,279,268 (GRCm39) |
Y132C |
probably damaging |
Het |
| Plcd1 |
T |
C |
9: 118,901,723 (GRCm39) |
|
probably null |
Het |
| Plce1 |
C |
T |
19: 38,748,551 (GRCm39) |
R1761C |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,103,414 (GRCm39) |
L964P |
probably damaging |
Het |
| Prss43 |
T |
C |
9: 110,656,564 (GRCm39) |
S84P |
possibly damaging |
Het |
| Rffl |
T |
C |
11: 82,703,633 (GRCm39) |
T97A |
possibly damaging |
Het |
| Riok2 |
G |
C |
17: 17,598,057 (GRCm39) |
G48A |
possibly damaging |
Het |
| Sec24a |
A |
G |
11: 51,617,331 (GRCm39) |
M488T |
probably benign |
Het |
| Setdb2 |
C |
T |
14: 59,646,881 (GRCm39) |
D545N |
possibly damaging |
Het |
| Slc39a4 |
T |
A |
15: 76,498,126 (GRCm39) |
H400L |
possibly damaging |
Het |
| St7 |
T |
A |
6: 17,846,271 (GRCm39) |
F175I |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,299,324 (GRCm39) |
D977V |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,534,646 (GRCm39) |
T1801I |
probably damaging |
Het |
| Terf1 |
C |
T |
1: 15,883,295 (GRCm39) |
T136I |
probably damaging |
Het |
| Tnnt1 |
T |
C |
7: 4,513,381 (GRCm39) |
S42G |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,230,467 (GRCm39) |
I870K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,574,389 (GRCm39) |
N25501K |
possibly damaging |
Het |
| Unc13c |
A |
T |
9: 73,485,715 (GRCm39) |
W1662R |
probably damaging |
Het |
| Wdr47 |
T |
A |
3: 108,525,890 (GRCm39) |
C138S |
probably damaging |
Het |
| Zfp458 |
A |
G |
13: 67,408,298 (GRCm39) |
S6P |
probably damaging |
Het |
| Zfp668 |
A |
C |
7: 127,465,804 (GRCm39) |
L460* |
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 |
|
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 |
|
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'- AAAGGGGCTTGGGATATGTC -3'
(R):5'- ATGAAGCCACGTTCAGCAG -3'
Sequencing Primer
(F):5'- AGTACTGACTGTCCTGGAACTAGC -3'
(R):5'- GCCACGTTCAGCAGGAGAATC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation