Incidental Mutation 'R4551:Trappc8'
| ID |
333979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc8
|
| Ensembl Gene |
ENSMUSG00000033382 |
| Gene Name |
trafficking protein particle complex 8 |
| Synonyms |
5033403J15Rik, D030074E01Rik, Trs85 |
| MMRRC Submission |
041782-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R4551 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
20950280-21029150 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21007729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 129
(T129A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025177]
[ENSMUST00000097658]
[ENSMUST00000225661]
|
| AlphaFold |
A0A286YCX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025177
AA Change: T129A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000025177
Gene: ENSMUSG00000033382
AA Change: T129A
| 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: T129A
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000095262
Gene: ENSMUSG00000033382
AA Change: T129A
| 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: ENSMUST00000225661
AA Change: T129A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.1104 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
All alleles(11) : Gene trapped(11) |
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
G |
11: 119,902,395 (GRCm39) |
E610A |
probably benign |
Het |
| Abhd17b |
T |
C |
19: 21,658,290 (GRCm39) |
S176P |
possibly damaging |
Het |
| Adgrg7 |
A |
G |
16: 56,568,375 (GRCm39) |
Y427H |
probably damaging |
Het |
| Alox15 |
T |
A |
11: 70,235,422 (GRCm39) |
I647L |
probably benign |
Het |
| Ankhd1 |
C |
A |
18: 36,788,560 (GRCm39) |
|
probably null |
Het |
| Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
| Armcx5 |
T |
A |
X: 134,647,256 (GRCm39) |
V444D |
probably damaging |
Het |
| C4bp |
A |
G |
1: 130,564,464 (GRCm39) |
Y407H |
possibly damaging |
Het |
| Cog6 |
T |
A |
3: 52,905,741 (GRCm39) |
E96V |
probably damaging |
Het |
| Cox20 |
A |
C |
1: 178,150,114 (GRCm39) |
N96T |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,273,934 (GRCm39) |
I351V |
probably benign |
Het |
| Cpd |
C |
T |
11: 76,702,712 (GRCm39) |
G552D |
probably damaging |
Het |
| Cyld |
A |
G |
8: 89,433,762 (GRCm39) |
K184E |
possibly damaging |
Het |
| Dab2 |
G |
A |
15: 6,464,775 (GRCm39) |
G324D |
probably damaging |
Het |
| Depdc1a |
T |
A |
3: 159,228,221 (GRCm39) |
D324E |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,732,192 (GRCm39) |
E4238G |
probably damaging |
Het |
| Dync1i1 |
T |
A |
6: 5,923,206 (GRCm39) |
D275E |
probably benign |
Het |
| Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
| Farp2 |
T |
A |
1: 93,546,314 (GRCm39) |
L868Q |
possibly damaging |
Het |
| Gpr45 |
A |
G |
1: 43,071,950 (GRCm39) |
T198A |
probably benign |
Het |
| Grk2 |
C |
T |
19: 4,336,084 (GRCm39) |
V402M |
possibly damaging |
Het |
| Gsap |
A |
T |
5: 21,495,569 (GRCm39) |
D79V |
probably damaging |
Het |
| Gtf2h3 |
A |
G |
5: 124,728,482 (GRCm39) |
|
probably benign |
Het |
| Hus1b |
C |
A |
13: 31,131,059 (GRCm39) |
S200I |
probably damaging |
Het |
| Hypk |
A |
G |
2: 121,283,961 (GRCm39) |
|
probably null |
Het |
| Ikbke |
T |
C |
1: 131,185,770 (GRCm39) |
|
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,711,516 (GRCm39) |
E670G |
probably damaging |
Het |
| Kif26b |
T |
A |
1: 178,711,600 (GRCm39) |
I740N |
probably damaging |
Het |
| Lhx3 |
G |
A |
2: 26,091,202 (GRCm39) |
P369L |
probably damaging |
Het |
| Man2c1 |
T |
C |
9: 57,038,445 (GRCm39) |
L35P |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,981,123 (GRCm39) |
S366T |
possibly damaging |
Het |
| Mroh9 |
A |
T |
1: 162,871,662 (GRCm39) |
I607N |
probably damaging |
Het |
| Mybphl |
T |
C |
3: 108,281,479 (GRCm39) |
I65T |
possibly damaging |
Het |
| Myo1g |
A |
G |
11: 6,467,874 (GRCm39) |
I187T |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 32,118,161 (GRCm39) |
S822G |
probably benign |
Het |
| Nkx2-4 |
C |
A |
2: 146,926,842 (GRCm39) |
A142S |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Odf4 |
C |
T |
11: 68,812,866 (GRCm39) |
S264N |
probably benign |
Het |
| Or12k7 |
G |
T |
2: 36,958,355 (GRCm39) |
V13L |
probably benign |
Het |
| Or13a17 |
A |
T |
7: 140,271,655 (GRCm39) |
Y279F |
probably damaging |
Het |
| Or56b1 |
A |
T |
7: 104,285,631 (GRCm39) |
H250L |
probably damaging |
Het |
| Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
| Parpbp |
T |
A |
10: 87,929,564 (GRCm39) |
Q428L |
possibly damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,887 (GRCm39) |
F616L |
probably damaging |
Het |
| Pdk3 |
A |
T |
X: 92,825,846 (GRCm39) |
M253K |
probably damaging |
Het |
| Pgap2 |
C |
A |
7: 101,875,674 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
C |
A |
15: 44,414,281 (GRCm39) |
N2849K |
probably damaging |
Het |
| Pprc1 |
A |
G |
19: 46,055,664 (GRCm39) |
|
probably benign |
Het |
| Psma2 |
A |
G |
13: 14,791,430 (GRCm39) |
Y25C |
possibly damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Ptpn5 |
C |
A |
7: 46,740,600 (GRCm39) |
|
probably benign |
Het |
| Pxn |
G |
T |
5: 115,690,779 (GRCm39) |
|
probably benign |
Het |
| Scd3 |
C |
A |
19: 44,203,878 (GRCm39) |
A22E |
probably benign |
Het |
| Sdr42e1 |
T |
C |
8: 118,390,347 (GRCm39) |
E98G |
probably benign |
Het |
| Slc14a2 |
A |
C |
18: 78,239,068 (GRCm39) |
S184A |
probably benign |
Het |
| Tmem236 |
A |
T |
2: 14,223,964 (GRCm39) |
Q251L |
probably benign |
Het |
| Vmn1r90 |
A |
C |
7: 14,295,894 (GRCm39) |
M68R |
possibly damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,446,613 (GRCm39) |
V462A |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,110 (GRCm39) |
T816A |
possibly damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,104,241 (GRCm39) |
I288K |
possibly damaging |
Het |
| Zfp180 |
A |
C |
7: 23,803,998 (GRCm39) |
K139T |
possibly damaging |
Het |
| Zfp932 |
T |
C |
5: 110,157,505 (GRCm39) |
V401A |
probably benign |
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 |
|
|
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 |
|
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'- ACTCCTACCTGAGTTTATACTACAC -3'
(R):5'- AGAGAAATTGTGCTTGCCTTG -3'
Sequencing Primer
(F):5'- CATACCTCAAGTACCCAGATCAG -3'
(R):5'- GAGAAATTGTGCTTGCCTTGATATC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation