Incidental Mutation 'R4994:Trappc11'
| ID |
385104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc11
|
| Ensembl Gene |
ENSMUSG00000038102 |
| Gene Name |
trafficking protein particle complex 11 |
| Synonyms |
D030016E14Rik |
| MMRRC Submission |
042588-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4994 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
47490115-47533470 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 47522441 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 247
(Y247*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039061]
|
| AlphaFold |
B2RXC1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039061
AA Change: Y247*
|
| SMART Domains |
Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102
AA Change: Y247*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Foie-gras_1
|
263 |
522 |
3e-78 |
PFAM |
|
Pfam:Gryzun
|
978 |
1114 |
3.9e-10 |
PFAM |
|
Pfam:Gryzun-like
|
1036 |
1095 |
2.4e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125065
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131551
|
| Meta Mutation Damage Score |
0.9701 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (79/79) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 72,455,118 (GRCm38) |
E364G |
probably benign |
Het |
| 4930505A04Rik |
C |
T |
11: 30,426,349 (GRCm38) |
V173M |
probably damaging |
Het |
| Abcb4 |
A |
G |
5: 8,928,524 (GRCm38) |
T557A |
probably damaging |
Het |
| Acadm |
C |
T |
3: 153,929,584 (GRCm38) |
E298K |
probably damaging |
Het |
| Adrb3 |
T |
C |
8: 27,227,827 (GRCm38) |
|
probably null |
Het |
| Aldh1b1 |
A |
G |
4: 45,803,128 (GRCm38) |
Y222C |
possibly damaging |
Het |
| Ankrd6 |
A |
G |
4: 32,860,387 (GRCm38) |
Y19H |
probably damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,849,890 (GRCm38) |
T1554S |
probably benign |
Het |
| BC043934 |
T |
C |
9: 96,437,120 (GRCm38) |
|
noncoding transcript |
Het |
| Birc6 |
A |
G |
17: 74,594,324 (GRCm38) |
|
probably benign |
Het |
| Blm |
A |
C |
7: 80,458,825 (GRCm38) |
F1357C |
probably benign |
Het |
| Cd209a |
T |
C |
8: 3,747,713 (GRCm38) |
|
probably null |
Het |
| Cdk7 |
G |
A |
13: 100,717,595 (GRCm38) |
H129Y |
probably damaging |
Het |
| Clec14a |
G |
T |
12: 58,268,284 (GRCm38) |
P184Q |
probably damaging |
Het |
| Cma1 |
T |
A |
14: 55,941,671 (GRCm38) |
I243F |
probably damaging |
Het |
| Cntnap3 |
G |
T |
13: 64,761,984 (GRCm38) |
T769K |
possibly damaging |
Het |
| Col5a1 |
A |
C |
2: 28,032,739 (GRCm38) |
K273T |
possibly damaging |
Het |
| Csnk1e |
A |
G |
15: 79,424,929 (GRCm38) |
Y266H |
probably damaging |
Het |
| Cyb5d1 |
A |
G |
11: 69,393,771 (GRCm38) |
L185S |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 149,041,500 (GRCm38) |
|
probably null |
Het |
| Dipk2a |
C |
A |
9: 94,537,433 (GRCm38) |
R148L |
probably benign |
Het |
| Drp2 |
G |
A |
X: 134,441,316 (GRCm38) |
R567H |
probably damaging |
Homo |
| Dzank1 |
T |
G |
2: 144,522,566 (GRCm38) |
D37A |
probably damaging |
Het |
| Echdc2 |
A |
G |
4: 108,165,628 (GRCm38) |
I34V |
probably benign |
Het |
| Esm1 |
A |
T |
13: 113,213,431 (GRCm38) |
R128S |
probably benign |
Het |
| Fbh1 |
T |
A |
2: 11,764,230 (GRCm38) |
I251F |
probably damaging |
Het |
| Fbrsl1 |
A |
G |
5: 110,447,951 (GRCm38) |
S73P |
probably damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,149,491 (GRCm38) |
S49R |
probably damaging |
Het |
| Gm17093 |
A |
T |
14: 44,519,322 (GRCm38) |
Q82L |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,458,055 (GRCm38) |
|
probably null |
Het |
| Hspa4l |
C |
A |
3: 40,745,649 (GRCm38) |
|
probably benign |
Het |
| Il3ra |
G |
A |
14: 14,351,080 (GRCm38) |
A201T |
probably benign |
Het |
| Irx5 |
T |
A |
8: 92,360,781 (GRCm38) |
V447E |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,482,959 (GRCm38) |
L668F |
probably damaging |
Het |
| Lag3 |
T |
A |
6: 124,904,453 (GRCm38) |
R519W |
unknown |
Het |
| Lgr4 |
A |
G |
2: 110,011,938 (GRCm38) |
N756S |
probably damaging |
Het |
| Lingo4 |
T |
A |
3: 94,403,001 (GRCm38) |
H415Q |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,402,541 (GRCm38) |
H262R |
probably benign |
Het |
| Lkaaear1 |
C |
A |
2: 181,697,583 (GRCm38) |
G25* |
probably null |
Het |
| Maco1 |
A |
G |
4: 134,828,299 (GRCm38) |
Y288H |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 14,114,231 (GRCm38) |
K1641E |
probably benign |
Het |
| Mtfmt |
T |
C |
9: 65,443,851 (GRCm38) |
|
probably benign |
Het |
| Mtif3 |
G |
A |
5: 146,956,788 (GRCm38) |
T203M |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,169,994 (GRCm38) |
I2740T |
probably benign |
Het |
| Nrdc |
A |
G |
4: 109,046,612 (GRCm38) |
T720A |
probably benign |
Het |
| Or2d2 |
T |
C |
7: 107,129,064 (GRCm38) |
T110A |
probably benign |
Het |
| Peak1 |
T |
A |
9: 56,241,276 (GRCm38) |
D32V |
possibly damaging |
Het |
| Pigr |
G |
A |
1: 130,841,817 (GRCm38) |
D122N |
probably benign |
Het |
| Plekhg3 |
A |
G |
12: 76,565,537 (GRCm38) |
R391G |
possibly damaging |
Het |
| Ppfia3 |
T |
C |
7: 45,341,118 (GRCm38) |
D919G |
probably damaging |
Het |
| Pramel23 |
T |
A |
4: 143,698,369 (GRCm38) |
Q168L |
possibly damaging |
Het |
| Rnase2b |
T |
A |
14: 51,162,751 (GRCm38) |
D96E |
possibly damaging |
Het |
| Rsf1 |
CGGCGGC |
CGGCGGCCGCGGCGGC |
7: 97,579,923 (GRCm38) |
|
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,579,909 (GRCm38) |
|
probably benign |
Het |
| Serpina3f |
A |
G |
12: 104,220,356 (GRCm38) |
T394A |
probably benign |
Het |
| Six3 |
A |
G |
17: 85,621,292 (GRCm38) |
N18S |
possibly damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,983,365 (GRCm38) |
|
probably null |
Het |
| Slc35f6 |
A |
G |
5: 30,648,083 (GRCm38) |
N21S |
probably damaging |
Het |
| Slc39a6 |
A |
T |
18: 24,596,294 (GRCm38) |
I454N |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,909,664 (GRCm38) |
E485D |
probably damaging |
Het |
| Sort1 |
G |
A |
3: 108,328,069 (GRCm38) |
C255Y |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,949,907 (GRCm38) |
T624S |
probably benign |
Het |
| Stk33 |
T |
A |
7: 109,340,398 (GRCm38) |
I99L |
probably benign |
Het |
| Taf4b |
T |
A |
18: 14,898,043 (GRCm38) |
I828N |
probably damaging |
Het |
| Terf2 |
T |
C |
8: 107,076,478 (GRCm38) |
|
probably benign |
Het |
| Timd4 |
C |
T |
11: 46,815,517 (GRCm38) |
R49C |
probably damaging |
Het |
| Tpte |
T |
C |
8: 22,318,346 (GRCm38) |
S166P |
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,406,855 (GRCm38) |
L13P |
probably benign |
Het |
| Trnt1 |
C |
T |
6: 106,778,892 (GRCm38) |
Q303* |
probably null |
Het |
| Tspyl5 |
T |
A |
15: 33,687,055 (GRCm38) |
Q248L |
possibly damaging |
Het |
| Ubxn7 |
A |
T |
16: 32,381,504 (GRCm38) |
K337N |
probably damaging |
Het |
| Unc13a |
T |
A |
8: 71,643,172 (GRCm38) |
I1234F |
probably benign |
Het |
| Vmn1r127 |
A |
T |
7: 21,319,018 (GRCm38) |
F282I |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,268,654 (GRCm38) |
|
probably null |
Het |
| Zfp605 |
A |
G |
5: 110,127,486 (GRCm38) |
K157E |
probably damaging |
Het |
| Zhx2 |
T |
A |
15: 57,821,359 (GRCm38) |
D41E |
probably benign |
Het |
|
| Other mutations in Trappc11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Trappc11
|
APN |
8 |
47,503,302 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01300:Trappc11
|
APN |
8 |
47,501,868 (GRCm38) |
missense |
probably benign |
|
|
IGL01312:Trappc11
|
APN |
8 |
47,505,677 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01344:Trappc11
|
APN |
8 |
47,519,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01518:Trappc11
|
APN |
8 |
47,501,869 (GRCm38) |
splice site |
probably null |
|
|
IGL01747:Trappc11
|
APN |
8 |
47,519,621 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL01781:Trappc11
|
APN |
8 |
47,514,128 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01908:Trappc11
|
APN |
8 |
47,503,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01956:Trappc11
|
APN |
8 |
47,528,001 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL02266:Trappc11
|
APN |
8 |
47,505,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02377:Trappc11
|
APN |
8 |
47,530,650 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02530:Trappc11
|
APN |
8 |
47,507,582 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02676:Trappc11
|
APN |
8 |
47,493,413 (GRCm38) |
splice site |
probably benign |
|
|
IGL03030:Trappc11
|
APN |
8 |
47,513,929 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03393:Trappc11
|
APN |
8 |
47,510,877 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
bantu
|
UTSW |
8 |
47,498,666 (GRCm38) |
missense |
probably benign |
0.44 |
|
bunyoro
|
UTSW |
8 |
47,512,285 (GRCm38) |
splice site |
probably null |
|
|
nyoro
|
UTSW |
8 |
47,526,979 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
serval
|
UTSW |
8 |
47,503,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0009:Trappc11
|
UTSW |
8 |
47,503,320 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R0009:Trappc11
|
UTSW |
8 |
47,503,320 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R0043:Trappc11
|
UTSW |
8 |
47,505,575 (GRCm38) |
splice site |
probably benign |
|
|
R0180:Trappc11
|
UTSW |
8 |
47,527,974 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0529:Trappc11
|
UTSW |
8 |
47,526,979 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0538:Trappc11
|
UTSW |
8 |
47,503,412 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0740:Trappc11
|
UTSW |
8 |
47,524,588 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1352:Trappc11
|
UTSW |
8 |
47,525,046 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1469:Trappc11
|
UTSW |
8 |
47,503,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1469:Trappc11
|
UTSW |
8 |
47,503,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1502:Trappc11
|
UTSW |
8 |
47,530,827 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1589:Trappc11
|
UTSW |
8 |
47,501,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1741:Trappc11
|
UTSW |
8 |
47,529,327 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2292:Trappc11
|
UTSW |
8 |
47,505,736 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2303:Trappc11
|
UTSW |
8 |
47,503,416 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2931:Trappc11
|
UTSW |
8 |
47,503,942 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3522:Trappc11
|
UTSW |
8 |
47,498,673 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3714:Trappc11
|
UTSW |
8 |
47,505,316 (GRCm38) |
intron |
probably benign |
|
|
R3739:Trappc11
|
UTSW |
8 |
47,514,103 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4165:Trappc11
|
UTSW |
8 |
47,524,968 (GRCm38) |
splice site |
probably benign |
|
|
R4581:Trappc11
|
UTSW |
8 |
47,493,345 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4598:Trappc11
|
UTSW |
8 |
47,513,766 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4939:Trappc11
|
UTSW |
8 |
47,519,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4990:Trappc11
|
UTSW |
8 |
47,490,895 (GRCm38) |
missense |
probably benign |
0.41 |
|
R5091:Trappc11
|
UTSW |
8 |
47,512,604 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5123:Trappc11
|
UTSW |
8 |
47,513,402 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5176:Trappc11
|
UTSW |
8 |
47,510,963 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5279:Trappc11
|
UTSW |
8 |
47,505,304 (GRCm38) |
intron |
probably benign |
|
|
R5293:Trappc11
|
UTSW |
8 |
47,493,342 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5294:Trappc11
|
UTSW |
8 |
47,530,731 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5661:Trappc11
|
UTSW |
8 |
47,512,607 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5838:Trappc11
|
UTSW |
8 |
47,512,559 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5889:Trappc11
|
UTSW |
8 |
47,519,578 (GRCm38) |
missense |
probably benign |
0.40 |
|
R5952:Trappc11
|
UTSW |
8 |
47,496,917 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5959:Trappc11
|
UTSW |
8 |
47,501,558 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6239:Trappc11
|
UTSW |
8 |
47,529,494 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R6322:Trappc11
|
UTSW |
8 |
47,530,773 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6369:Trappc11
|
UTSW |
8 |
47,512,285 (GRCm38) |
splice site |
probably null |
|
|
R7541:Trappc11
|
UTSW |
8 |
47,505,582 (GRCm38) |
splice site |
probably null |
|
|
R7544:Trappc11
|
UTSW |
8 |
47,522,414 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7762:Trappc11
|
UTSW |
8 |
47,522,376 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7964:Trappc11
|
UTSW |
8 |
47,526,944 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R8183:Trappc11
|
UTSW |
8 |
47,529,356 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8282:Trappc11
|
UTSW |
8 |
47,516,589 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8733:Trappc11
|
UTSW |
8 |
47,501,848 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8782:Trappc11
|
UTSW |
8 |
47,498,666 (GRCm38) |
missense |
probably benign |
0.44 |
|
R8853:Trappc11
|
UTSW |
8 |
47,529,404 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9544:Trappc11
|
UTSW |
8 |
47,519,678 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9709:Trappc11
|
UTSW |
8 |
47,493,313 (GRCm38) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCACCTTTATGGATCAAGAAACTG -3'
(R):5'- CAATAGGATGGGTCTTCTGCTG -3'
Sequencing Primer
(F):5'- AAATCCTGCCATCGTCTT -3'
(R):5'- CTGTATATGCCCCAGTACAGG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation