Incidental Mutation 'R7684:Trappc8'
ID |
592973 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trappc8
|
Ensembl Gene |
ENSMUSG00000033382 |
Gene Name |
trafficking protein particle complex 8 |
Synonyms |
5033403J15Rik, D030074E01Rik, Trs85 |
MMRRC Submission |
067780-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.950)
|
Stock # |
R7684 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
20950280-21029150 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20996559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 452
(N452S)
|
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: N452S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000025177 Gene: ENSMUSG00000033382 AA Change: N452S
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: N452S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000095262 Gene: ENSMUSG00000033382 AA Change: N452S
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: N451S
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (73/73) |
Allele List at MGI |
All alleles(11) : Gene trapped(11) |
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,760,659 (GRCm39) |
K1239* |
probably null |
Het |
Abhd6 |
T |
C |
14: 8,039,807 (GRCm38) |
F60S |
probably damaging |
Het |
Adam6b |
G |
A |
12: 113,455,196 (GRCm39) |
W671* |
probably null |
Het |
Ankrd36 |
A |
G |
11: 5,520,113 (GRCm39) |
T63A |
possibly damaging |
Het |
Arhgef16 |
A |
G |
4: 154,366,285 (GRCm39) |
V494A |
possibly damaging |
Het |
Arhgef7 |
T |
A |
8: 11,869,663 (GRCm39) |
M659K |
probably benign |
Het |
Cacna1h |
A |
G |
17: 25,608,346 (GRCm39) |
Y854H |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,248,692 (GRCm39) |
F780I |
possibly damaging |
Het |
Cldn8 |
A |
G |
16: 88,359,335 (GRCm39) |
Y197H |
probably damaging |
Het |
Cpne8 |
A |
T |
15: 90,533,450 (GRCm39) |
D58E |
probably damaging |
Het |
Cul9 |
T |
G |
17: 46,820,815 (GRCm39) |
Y1954S |
probably damaging |
Het |
Cyp4a10 |
T |
A |
4: 115,375,549 (GRCm39) |
F11I |
probably benign |
Het |
Cysrt1 |
A |
T |
2: 25,129,094 (GRCm39) |
C139* |
probably null |
Het |
Dnajc16 |
A |
G |
4: 141,501,879 (GRCm39) |
V317A |
probably benign |
Het |
Dnmt3a |
T |
C |
12: 3,947,340 (GRCm39) |
V437A |
probably benign |
Het |
Dok5 |
T |
C |
2: 170,683,344 (GRCm39) |
C202R |
probably damaging |
Het |
Dusp11 |
T |
A |
6: 85,927,542 (GRCm39) |
R164S |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,077,117 (GRCm39) |
S648P |
probably benign |
Het |
Egfem1 |
A |
T |
3: 29,744,334 (GRCm39) |
R581S |
probably damaging |
Het |
Enpep |
A |
G |
3: 129,115,094 (GRCm39) |
F226S |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,845,218 (GRCm39) |
I1541T |
unknown |
Het |
Exd1 |
A |
G |
2: 119,350,684 (GRCm39) |
S526P |
probably damaging |
Het |
Fam118a |
A |
G |
15: 84,942,982 (GRCm39) |
E337G |
possibly damaging |
Het |
Fam20b |
T |
C |
1: 156,518,215 (GRCm39) |
N193S |
probably benign |
Het |
Fat3 |
A |
G |
9: 15,899,564 (GRCm39) |
|
probably null |
Het |
Flg2 |
T |
C |
3: 93,126,956 (GRCm39) |
V1956A |
unknown |
Het |
Fzd10 |
A |
G |
5: 128,678,480 (GRCm39) |
I67V |
possibly damaging |
Het |
Gckr |
A |
T |
5: 31,465,141 (GRCm39) |
D370V |
probably damaging |
Het |
Gm8797 |
A |
T |
3: 5,816,148 (GRCm39) |
Q62L |
probably benign |
Het |
H6pd |
G |
T |
4: 150,080,519 (GRCm39) |
Q109K |
probably benign |
Het |
Higd1a |
T |
C |
9: 121,679,322 (GRCm39) |
K55R |
possibly damaging |
Het |
Il1b |
C |
T |
2: 129,209,277 (GRCm39) |
V118I |
probably benign |
Het |
Insr |
T |
C |
8: 3,219,753 (GRCm39) |
N923S |
possibly damaging |
Het |
Krit1 |
A |
G |
5: 3,880,723 (GRCm39) |
I561V |
possibly damaging |
Het |
Lamc2 |
T |
C |
1: 153,002,771 (GRCm39) |
D1070G |
probably null |
Het |
Lpcat2 |
T |
A |
8: 93,635,823 (GRCm39) |
D408E |
possibly damaging |
Het |
Mst1r |
T |
A |
9: 107,788,762 (GRCm39) |
F427Y |
probably benign |
Het |
Mtx1 |
A |
T |
3: 89,117,739 (GRCm39) |
I258K |
possibly damaging |
Het |
Nckap5 |
T |
C |
1: 125,954,594 (GRCm39) |
T653A |
probably benign |
Het |
Npas3 |
A |
T |
12: 54,115,609 (GRCm39) |
N844Y |
probably damaging |
Het |
Nrg3 |
A |
T |
14: 39,194,522 (GRCm39) |
L79Q |
probably damaging |
Het |
Nsmce1 |
C |
A |
7: 125,070,348 (GRCm39) |
K154N |
probably damaging |
Het |
Oard1 |
T |
C |
17: 48,723,726 (GRCm39) |
L124P |
probably damaging |
Het |
Or10ag57 |
T |
C |
2: 87,218,372 (GRCm39) |
S108P |
probably damaging |
Het |
Or10ak13 |
T |
C |
4: 118,639,471 (GRCm39) |
M104V |
probably benign |
Het |
Or51a10 |
G |
A |
7: 103,698,667 (GRCm39) |
T298I |
probably damaging |
Het |
Or51ah3 |
T |
C |
7: 103,210,425 (GRCm39) |
F247S |
probably benign |
Het |
Ovgp1 |
A |
T |
3: 105,887,272 (GRCm39) |
T223S |
probably damaging |
Het |
Pik3c2a |
A |
T |
7: 115,987,312 (GRCm39) |
Y536* |
probably null |
Het |
Plekho2 |
A |
T |
9: 65,466,816 (GRCm39) |
|
probably null |
Het |
Prelid3b |
T |
C |
2: 174,310,210 (GRCm39) |
|
probably null |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rxfp1 |
T |
A |
3: 79,578,214 (GRCm39) |
N159I |
possibly damaging |
Het |
Sfmbt1 |
A |
G |
14: 30,532,311 (GRCm39) |
Q557R |
probably damaging |
Het |
Slc22a18 |
G |
T |
7: 143,044,577 (GRCm39) |
V177L |
probably benign |
Het |
Slc22a8 |
A |
G |
19: 8,587,294 (GRCm39) |
I451M |
probably benign |
Het |
Slc39a12 |
T |
C |
2: 14,454,670 (GRCm39) |
S563P |
probably damaging |
Het |
Snx20 |
T |
C |
8: 89,353,863 (GRCm39) |
D289G |
probably benign |
Het |
Sptb |
A |
G |
12: 76,658,969 (GRCm39) |
Y1189H |
probably benign |
Het |
Tbc1d1 |
T |
A |
5: 64,473,829 (GRCm39) |
M784K |
probably benign |
Het |
Tbkbp1 |
T |
C |
11: 97,038,559 (GRCm39) |
|
probably benign |
Het |
Tfap2b |
G |
C |
1: 19,284,511 (GRCm39) |
D140H |
probably damaging |
Het |
Thy1 |
G |
A |
9: 43,957,855 (GRCm39) |
G13D |
unknown |
Het |
Ticam1 |
A |
G |
17: 56,576,984 (GRCm39) |
S704P |
unknown |
Het |
Tmem151b |
A |
G |
17: 45,857,929 (GRCm39) |
Y106H |
probably damaging |
Het |
Ttc9c |
A |
G |
19: 8,789,128 (GRCm39) |
Y166H |
probably damaging |
Het |
Txndc16 |
A |
G |
14: 45,385,325 (GRCm39) |
V556A |
possibly damaging |
Het |
Tyrp1 |
C |
A |
4: 80,758,862 (GRCm39) |
S245Y |
probably damaging |
Het |
Urb1 |
A |
T |
16: 90,583,006 (GRCm39) |
L621* |
probably null |
Het |
Wdr72 |
A |
T |
9: 74,054,292 (GRCm39) |
T224S |
probably damaging |
Het |
Zc3h18 |
T |
G |
8: 123,134,165 (GRCm39) |
S544A |
unknown |
Het |
Zfp462 |
T |
A |
4: 55,008,908 (GRCm39) |
N291K |
probably benign |
Het |
Zfp609 |
T |
C |
9: 65,638,362 (GRCm39) |
N290S |
possibly damaging |
Het |
Zfp979 |
A |
T |
4: 147,697,799 (GRCm39) |
H303Q |
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 |
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'- ACGCCCATATGCACTGAAG -3'
(R):5'- TGCAGTTGAGAAGTTTCCAGG -3'
Sequencing Primer
(F):5'- ATCTCAGCAAGCAAGGAG -3'
(R):5'- GTTGAGAAGTTTCCAGGACTATAAG -3'
|
Posted On |
2019-11-12 |