Incidental Mutation 'R9766:Trappc8'
| ID |
733307 |
| 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 # |
R9766 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
20950280-21029150 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20979630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 755
(I755T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025177]
[ENSMUST00000097658]
[ENSMUST00000225661]
|
| AlphaFold |
A0A286YCX6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025177
AA Change: I755T
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025177
Gene: ENSMUSG00000033382
AA Change: I755T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRAPPC-Trs85
|
157 |
604 |
1e-167 |
PFAM |
|
low complexity region
|
769 |
777 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097658
AA Change: I755T
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000095262
Gene: ENSMUSG00000033382
AA Change: I755T
| 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 |
possibly damaging
Transcript: ENSMUST00000225661
AA Change: I754T
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(11) : Gene trapped(11) |
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,385,788 (GRCm39) |
V59A |
probably benign |
Het |
| Aatk |
A |
T |
11: 119,902,565 (GRCm39) |
H610Q |
probably benign |
Het |
| Acox1 |
G |
A |
11: 116,071,867 (GRCm39) |
A187V |
probably damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,189,177 (GRCm39) |
Y195C |
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,757,570 (GRCm39) |
R76W |
probably damaging |
Het |
| Anapc1 |
C |
T |
2: 128,500,221 (GRCm39) |
R808Q |
probably damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,500,067 (GRCm39) |
T1135A |
possibly damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,921,148 (GRCm39) |
V113A |
probably benign |
Het |
| Art3 |
T |
C |
5: 92,562,138 (GRCm39) |
C379R |
unknown |
Het |
| Bltp3a |
T |
C |
17: 28,105,799 (GRCm39) |
L775P |
probably damaging |
Het |
| Bmp5 |
A |
G |
9: 75,800,982 (GRCm39) |
I371V |
probably damaging |
Het |
| Ccdc88b |
T |
A |
19: 6,833,096 (GRCm39) |
E281V |
probably damaging |
Het |
| Ces1e |
A |
T |
8: 93,946,031 (GRCm39) |
Y171N |
probably damaging |
Het |
| Cib3 |
A |
T |
8: 72,961,034 (GRCm39) |
F68I |
possibly damaging |
Het |
| Crtac1 |
A |
T |
19: 42,402,557 (GRCm39) |
L17Q |
possibly damaging |
Het |
| Crybg3 |
A |
T |
16: 59,376,207 (GRCm39) |
S1682R |
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,465,312 (GRCm39) |
G1323D |
probably damaging |
Het |
| Dock3 |
A |
C |
9: 106,788,483 (GRCm39) |
D161E |
probably benign |
Het |
| Dpep3 |
A |
C |
8: 106,705,369 (GRCm39) |
L127R |
probably damaging |
Het |
| Dus2 |
A |
G |
8: 106,772,568 (GRCm39) |
D226G |
probably damaging |
Het |
| Ebna1bp2 |
T |
C |
4: 118,480,821 (GRCm39) |
V184A |
possibly damaging |
Het |
| Edem1 |
T |
A |
6: 108,823,648 (GRCm39) |
I348N |
probably damaging |
Het |
| Efcab8 |
A |
T |
2: 153,656,362 (GRCm39) |
M599L |
unknown |
Het |
| Eif2ak4 |
A |
T |
2: 118,261,313 (GRCm39) |
K618* |
probably null |
Het |
| Fbxw27 |
T |
C |
9: 109,602,215 (GRCm39) |
K253E |
possibly damaging |
Het |
| Fgf5 |
A |
G |
5: 98,423,113 (GRCm39) |
E166G |
possibly damaging |
Het |
| Flot1 |
G |
T |
17: 36,141,555 (GRCm39) |
E321* |
probably null |
Het |
| Gm14443 |
T |
C |
2: 175,012,248 (GRCm39) |
E66G |
probably benign |
Het |
| Gprc6a |
G |
A |
10: 51,491,884 (GRCm39) |
P622S |
probably damaging |
Het |
| Gsta2 |
A |
T |
9: 78,244,876 (GRCm39) |
Y79* |
probably null |
Het |
| Hecw2 |
A |
G |
1: 53,904,287 (GRCm39) |
S1154P |
probably damaging |
Het |
| Hrob |
A |
T |
11: 102,146,586 (GRCm39) |
Q287H |
possibly damaging |
Het |
| Kcnd2 |
T |
C |
6: 21,216,367 (GRCm39) |
S24P |
probably benign |
Het |
| Knl1 |
A |
G |
2: 118,900,381 (GRCm39) |
D694G |
probably damaging |
Het |
| L1td1 |
T |
C |
4: 98,624,753 (GRCm39) |
I316T |
probably benign |
Het |
| Lrsam1 |
G |
T |
2: 32,818,077 (GRCm39) |
Q660K |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,548,153 (GRCm39) |
T6047S |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,552,383 (GRCm39) |
T4637S |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,078,914 (GRCm39) |
Y891H |
probably damaging |
Het |
| Nkd2 |
G |
T |
13: 73,995,131 (GRCm39) |
D22E |
possibly damaging |
Het |
| Patl2 |
A |
T |
2: 121,954,212 (GRCm39) |
V453E |
probably damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,488,313 (GRCm39) |
Y1744H |
probably damaging |
Het |
| Phf8-ps |
T |
G |
17: 33,285,647 (GRCm39) |
N385T |
probably damaging |
Het |
| Pira2 |
T |
A |
7: 3,845,517 (GRCm39) |
H289L |
possibly damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,158,117 (GRCm39) |
I569T |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,562,735 (GRCm39) |
V568A |
probably benign |
Het |
| Ptf1a |
G |
A |
2: 19,451,062 (GRCm39) |
G131S |
probably benign |
Het |
| Rasgrf2 |
G |
T |
13: 92,160,188 (GRCm39) |
H396N |
probably damaging |
Het |
| Rfx1 |
C |
T |
8: 84,814,376 (GRCm39) |
T315M |
probably damaging |
Het |
| Rnf207 |
C |
A |
4: 152,400,402 (GRCm39) |
R148L |
probably damaging |
Het |
| Scn11a |
T |
G |
9: 119,584,181 (GRCm39) |
N1478T |
probably damaging |
Het |
| Sdr39u1 |
C |
T |
14: 56,135,194 (GRCm39) |
V250I |
probably benign |
Het |
| Serinc3 |
T |
C |
2: 163,471,095 (GRCm39) |
T276A |
probably damaging |
Het |
| Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
| Stambp |
C |
A |
6: 83,534,469 (GRCm39) |
A273S |
probably benign |
Het |
| Taf2 |
T |
C |
15: 54,910,881 (GRCm39) |
|
probably null |
Het |
| Tex26 |
A |
T |
5: 149,386,642 (GRCm39) |
Y232F |
probably damaging |
Het |
| Tmem258 |
T |
C |
19: 10,184,578 (GRCm39) |
L55P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,194,595 (GRCm39) |
Y1163H |
unknown |
Het |
| Usp14 |
G |
A |
18: 10,005,630 (GRCm39) |
T254I |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,839,247 (GRCm39) |
L2099P |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,042,866 (GRCm39) |
V1962I |
possibly damaging |
Het |
| Zfp407 |
T |
C |
18: 84,577,574 (GRCm39) |
T1180A |
probably benign |
Het |
| Zfp644 |
C |
A |
5: 106,784,691 (GRCm39) |
G619C |
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 |
|
|
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 |
|
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'- GTGAACTGAGTGGTAGCACC -3'
(R):5'- CATTTAGAAGCAAATAGTGGGGATC -3'
Sequencing Primer
(F):5'- CTGAGTGGTAGCACCGGAAGTC -3'
(R):5'- CACTGTAACATGGTGCTGAAGTAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation