Incidental Mutation 'R1561:Trappc8'
ID |
170642 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trappc8
|
Ensembl Gene |
ENSMUSG00000033382 |
Gene Name |
trafficking protein particle complex 8 |
Synonyms |
5033403J15Rik, D030074E01Rik, Trs85 |
MMRRC Submission |
039600-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.950)
|
Stock # |
R1561 (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 20974680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 883
(R883*)
|
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: R884*
|
SMART Domains |
Protein: ENSMUSP00000025177 Gene: ENSMUSG00000033382 AA Change: R884*
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: R883*
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.9%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(11) : Gene trapped(11) |
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
A |
G |
17: 57,184,431 (GRCm39) |
N69D |
probably benign |
Het |
Alms1 |
T |
A |
6: 85,606,034 (GRCm39) |
Y2561* |
probably null |
Het |
Ap1g2 |
T |
C |
14: 55,342,344 (GRCm39) |
E171G |
probably damaging |
Het |
Atg7 |
T |
C |
6: 114,678,133 (GRCm39) |
V341A |
possibly damaging |
Het |
Bace1 |
G |
T |
9: 45,750,492 (GRCm39) |
R56L |
probably benign |
Het |
Cd200l1 |
A |
G |
16: 45,262,875 (GRCm39) |
V88A |
possibly damaging |
Het |
Chfr |
A |
T |
5: 110,306,674 (GRCm39) |
D472V |
probably benign |
Het |
Ckap2l |
G |
A |
2: 129,112,645 (GRCm39) |
T621I |
probably benign |
Het |
Cmip |
A |
G |
8: 118,180,589 (GRCm39) |
T554A |
probably benign |
Het |
Crocc |
C |
T |
4: 140,757,579 (GRCm39) |
E905K |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
F5 |
C |
A |
1: 164,014,472 (GRCm39) |
S581* |
probably null |
Het |
Fam227a |
T |
A |
15: 79,520,963 (GRCm39) |
Y291F |
possibly damaging |
Het |
Gpr151 |
A |
T |
18: 42,712,221 (GRCm39) |
S152R |
probably benign |
Het |
Gpr158 |
A |
T |
2: 21,820,505 (GRCm39) |
|
probably null |
Het |
Kcna5 |
T |
C |
6: 126,511,546 (GRCm39) |
Y194C |
probably damaging |
Het |
Khsrp |
A |
G |
17: 57,332,639 (GRCm39) |
S214P |
probably benign |
Het |
Mrgprb1 |
C |
G |
7: 48,096,873 (GRCm39) |
|
probably null |
Het |
Mrnip |
C |
T |
11: 50,067,676 (GRCm39) |
T30I |
probably damaging |
Het |
Mtus2 |
A |
C |
5: 148,013,362 (GRCm39) |
K52Q |
probably benign |
Het |
Naca |
G |
T |
10: 127,876,267 (GRCm39) |
|
probably benign |
Het |
Obscn |
T |
G |
11: 58,926,899 (GRCm39) |
T5539P |
probably damaging |
Het |
Or13p3 |
T |
A |
4: 118,566,751 (GRCm39) |
I49N |
probably damaging |
Het |
Or9m1 |
C |
T |
2: 87,733,505 (GRCm39) |
V172I |
probably benign |
Het |
Ovca2 |
A |
G |
11: 75,068,805 (GRCm39) |
L198P |
probably damaging |
Het |
Pdzrn4 |
T |
C |
15: 92,575,518 (GRCm39) |
V308A |
possibly damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,341,445 (GRCm39) |
I99M |
unknown |
Het |
Polr3b |
T |
A |
10: 84,470,776 (GRCm39) |
M139K |
probably damaging |
Het |
Prkag2 |
T |
C |
5: 25,076,593 (GRCm39) |
Y191C |
probably damaging |
Het |
Prss47 |
A |
T |
13: 65,194,062 (GRCm39) |
C278S |
probably damaging |
Het |
Ptprm |
T |
C |
17: 67,247,536 (GRCm39) |
T600A |
probably damaging |
Het |
Ruvbl1 |
T |
C |
6: 88,456,136 (GRCm39) |
V70A |
probably damaging |
Het |
Sf3a1 |
T |
C |
11: 4,129,217 (GRCm39) |
V726A |
probably benign |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Slc26a3 |
A |
G |
12: 31,516,451 (GRCm39) |
N603S |
probably benign |
Het |
Slc2a1 |
A |
G |
4: 118,993,606 (GRCm39) |
E481G |
possibly damaging |
Het |
Slc35a5 |
A |
C |
16: 44,971,884 (GRCm39) |
S127A |
possibly damaging |
Het |
Spen |
C |
A |
4: 141,199,694 (GRCm39) |
G2978* |
probably null |
Het |
Srrt |
T |
A |
5: 137,298,281 (GRCm39) |
E297V |
probably benign |
Het |
Srsf4 |
T |
A |
4: 131,625,006 (GRCm39) |
D134E |
probably damaging |
Het |
Tdrd6 |
G |
A |
17: 43,936,515 (GRCm39) |
S1511L |
probably damaging |
Het |
Tmem65 |
T |
A |
15: 58,694,707 (GRCm39) |
I91F |
probably benign |
Het |
Top2b |
A |
G |
14: 16,398,993 (GRCm38) |
K538E |
possibly damaging |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Vav3 |
T |
C |
3: 109,402,154 (GRCm39) |
|
probably null |
Het |
Vmn1r42 |
C |
T |
6: 89,822,363 (GRCm39) |
G69S |
probably damaging |
Het |
Zan |
A |
T |
5: 137,379,100 (GRCm39) |
Y5333* |
probably null |
Het |
Zfp994 |
A |
C |
17: 22,420,206 (GRCm39) |
F248V |
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 |
|
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 |
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'- ACATTCTGTGAAACATCATCTGGCTCTG -3'
(R):5'- GCCTTTGGTGAAACCCCACATAGATAC -3'
Sequencing Primer
(F):5'- ACATCATCTGGCTCTGTAATTGTTTG -3'
(R):5'- CAGTGAGACATTGAATAGCATACC -3'
|
Posted On |
2014-04-13 |