Incidental Mutation 'R9246:Trappc8'
ID |
701332 |
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 # |
R9246 (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 T
at 20993590 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 499
(M499K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095262
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025177]
[ENSMUST00000097658]
[ENSMUST00000224530]
[ENSMUST00000225661]
|
AlphaFold |
A0A286YCX6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025177
AA Change: M499K
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000025177 Gene: ENSMUSG00000033382 AA Change: M499K
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: M499K
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000095262 Gene: ENSMUSG00000033382 AA Change: M499K
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
AA Change: M12K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225661
AA Change: M498K
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(11) : Gene trapped(11) |
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
C |
T |
7: 27,279,961 (GRCm39) |
T314I |
probably benign |
Het |
Abca7 |
G |
A |
10: 79,838,535 (GRCm39) |
S603N |
probably damaging |
Het |
Abcc2 |
T |
C |
19: 43,786,882 (GRCm39) |
F168L |
probably benign |
Het |
Abcc8 |
T |
C |
7: 45,774,289 (GRCm39) |
T764A |
probably benign |
Het |
Acot4 |
A |
C |
12: 84,090,097 (GRCm39) |
I265L |
probably benign |
Het |
Adrb2 |
C |
A |
18: 62,312,226 (GRCm39) |
A200S |
probably damaging |
Het |
Atp2c2 |
G |
T |
8: 120,456,989 (GRCm39) |
R197L |
probably damaging |
Het |
Bmpr1a |
T |
C |
14: 34,156,664 (GRCm39) |
T121A |
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,804,016 (GRCm39) |
S2051R |
probably benign |
Het |
Card10 |
T |
C |
15: 78,673,036 (GRCm39) |
E547G |
possibly damaging |
Het |
Cbln1 |
A |
T |
8: 88,197,048 (GRCm39) |
I139N |
probably damaging |
Het |
Ccdc86 |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
19: 10,926,162 (GRCm39) |
|
probably benign |
Het |
Cdh16 |
C |
T |
8: 105,344,602 (GRCm39) |
D510N |
probably benign |
Het |
Cdh2 |
G |
A |
18: 16,781,654 (GRCm39) |
Q146* |
probably null |
Het |
Cdhr1 |
T |
G |
14: 36,801,654 (GRCm39) |
K763T |
possibly damaging |
Het |
Cfl1 |
G |
C |
19: 5,543,634 (GRCm39) |
G204R |
probably damaging |
Het |
Clcn6 |
A |
T |
4: 148,113,866 (GRCm39) |
V64E |
probably benign |
Het |
Col4a4 |
G |
A |
1: 82,430,956 (GRCm39) |
P1649S |
unknown |
Het |
Ctnna1 |
T |
A |
18: 35,356,562 (GRCm39) |
N410K |
probably benign |
Het |
Dhx34 |
A |
G |
7: 15,937,162 (GRCm39) |
F845S |
probably damaging |
Het |
Dnah7c |
T |
G |
1: 46,571,934 (GRCm39) |
N802K |
possibly damaging |
Het |
Dnmt3a |
T |
C |
12: 3,949,204 (GRCm39) |
S492P |
probably damaging |
Het |
Fhit |
C |
A |
14: 10,421,494 (GRCm38) |
|
probably null |
Het |
Fzd2 |
A |
T |
11: 102,496,749 (GRCm39) |
I398F |
possibly damaging |
Het |
Gm9195 |
A |
G |
14: 72,710,314 (GRCm39) |
S457P |
probably benign |
Het |
Gnao1 |
A |
G |
8: 94,676,967 (GRCm39) |
K211E |
|
Het |
Gzme |
T |
C |
14: 56,356,198 (GRCm39) |
D100G |
probably benign |
Het |
Hook3 |
T |
C |
8: 26,562,319 (GRCm39) |
T249A |
probably benign |
Het |
Hoxd4 |
G |
A |
2: 74,558,747 (GRCm39) |
C190Y |
possibly damaging |
Het |
Hr |
T |
A |
14: 70,808,915 (GRCm39) |
V1097E |
probably damaging |
Het |
Iqca1l |
T |
G |
5: 24,753,969 (GRCm39) |
E430A |
probably benign |
Het |
Kdm3b |
A |
T |
18: 34,941,480 (GRCm39) |
K524* |
probably null |
Het |
Kif18a |
A |
G |
2: 109,163,819 (GRCm39) |
T723A |
probably benign |
Het |
Kif1a |
A |
G |
1: 93,005,501 (GRCm39) |
V91A |
probably damaging |
Het |
Krtap19-2 |
AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA |
AAAGCCTCCA |
16: 88,670,859 (GRCm39) |
|
probably benign |
Het |
Lama3 |
G |
A |
18: 12,710,959 (GRCm39) |
V1559M |
probably damaging |
Het |
Maco1 |
A |
G |
4: 134,565,242 (GRCm39) |
V47A |
possibly damaging |
Het |
Msto1 |
A |
T |
3: 88,819,411 (GRCm39) |
I160N |
probably damaging |
Het |
Muc5ac |
C |
A |
7: 141,364,215 (GRCm39) |
Q2509K |
probably benign |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
Or1ad8 |
T |
A |
11: 50,897,891 (GRCm39) |
F31I |
probably damaging |
Het |
Or2ag2b |
C |
T |
7: 106,417,938 (GRCm39) |
T216I |
probably benign |
Het |
Or52ad1 |
C |
T |
7: 102,995,908 (GRCm39) |
V76I |
probably damaging |
Het |
Or7e170 |
T |
C |
9: 19,795,686 (GRCm39) |
|
probably benign |
Het |
Or8k21 |
A |
T |
2: 86,145,222 (GRCm39) |
M136K |
probably damaging |
Het |
Pik3c3 |
C |
A |
18: 30,466,364 (GRCm39) |
A805D |
probably damaging |
Het |
Pnn |
A |
G |
12: 59,116,929 (GRCm39) |
Q167R |
probably damaging |
Het |
Pogk |
G |
T |
1: 166,226,380 (GRCm39) |
H590Q |
probably damaging |
Het |
Prkcd |
A |
G |
14: 30,327,432 (GRCm39) |
L251P |
probably damaging |
Het |
Prrc1 |
T |
A |
18: 57,496,208 (GRCm39) |
V53E |
probably benign |
Het |
Ripor1 |
T |
C |
8: 106,345,522 (GRCm39) |
F856S |
unknown |
Het |
Rnf31 |
G |
A |
14: 55,833,698 (GRCm39) |
A569T |
probably benign |
Het |
Robo1 |
T |
A |
16: 72,769,178 (GRCm39) |
D532E |
probably benign |
Het |
Sh2d6 |
T |
A |
6: 72,497,594 (GRCm39) |
K3* |
probably null |
Het |
Slc22a27 |
T |
C |
19: 7,874,209 (GRCm39) |
T289A |
probably benign |
Het |
Speg |
T |
C |
1: 75,361,498 (GRCm39) |
S171P |
probably damaging |
Het |
Stag1 |
T |
A |
9: 100,770,329 (GRCm39) |
F622I |
probably benign |
Het |
Stxbp1 |
T |
C |
2: 32,679,586 (GRCm39) |
D589G |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 5,255,706 (GRCm39) |
I2391M |
probably benign |
Het |
Sytl2 |
A |
G |
7: 90,007,384 (GRCm39) |
M49V |
probably benign |
Het |
Tmem185b |
T |
C |
1: 119,454,368 (GRCm39) |
V43A |
probably damaging |
Het |
Vmn1r172 |
T |
A |
7: 23,359,593 (GRCm39) |
S159R |
possibly damaging |
Het |
Vmn1r62 |
A |
G |
7: 5,678,628 (GRCm39) |
Y103C |
probably damaging |
Het |
Vmn1r65 |
C |
T |
7: 6,011,769 (GRCm39) |
C155Y |
possibly damaging |
Het |
Vmn2r112 |
G |
A |
17: 22,824,088 (GRCm39) |
V448I |
probably benign |
Het |
Zfp592 |
A |
T |
7: 80,691,529 (GRCm39) |
D1236V |
probably benign |
Het |
Zfp827 |
T |
C |
8: 79,803,132 (GRCm39) |
V568A |
possibly damaging |
Het |
Zscan4-ps3 |
A |
T |
7: 11,346,320 (GRCm39) |
I147F |
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 |
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'- AACTAGCAGTGTTTAAACCCTGAG -3'
(R):5'- ACTCTTCTATTGGAGCAAGCATG -3'
Sequencing Primer
(F):5'- GTGTTTAAACCCTGAGAAAGCCTC -3'
(R):5'- CAAGCATGCATAGGACTTTGTTG -3'
|
Posted On |
2022-03-25 |