Incidental Mutation 'R5959:Trappc11'
| ID |
471351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc11
|
| Ensembl Gene |
ENSMUSG00000038102 |
| Gene Name |
trafficking protein particle complex 11 |
| Synonyms |
D030016E14Rik |
| MMRRC Submission |
044146-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5959 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
47943163-47986505 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47954593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 949
(D949G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039061]
[ENSMUST00000120987]
|
| AlphaFold |
B2RXC1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039061
AA Change: D949G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102
AA Change: D949G
| 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 |
probably benign
Transcript: ENSMUST00000120987
|
| SMART Domains |
Protein: ENSMUSP00000113779
Gene: ENSMUSG00000038102
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gryzun
|
1 |
155 |
4e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125065
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.6%
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
T |
11: 84,106,792 (GRCm39) |
N164Y |
probably damaging |
Het |
| Acp6 |
A |
G |
3: 97,073,888 (GRCm39) |
E164G |
probably damaging |
Het |
| Adcy5 |
A |
T |
16: 35,118,780 (GRCm39) |
I1044F |
probably damaging |
Het |
| Ahcyl2 |
A |
G |
6: 29,886,173 (GRCm39) |
D363G |
probably damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,451,879 (GRCm39) |
T273A |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,860,132 (GRCm39) |
Y862* |
probably null |
Het |
| Cfap221 |
T |
A |
1: 119,860,511 (GRCm39) |
H705L |
probably damaging |
Het |
| Cfap61 |
C |
T |
2: 145,789,053 (GRCm39) |
T19M |
probably benign |
Het |
| Chga |
T |
C |
12: 102,528,114 (GRCm39) |
S202P |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,894,109 (GRCm39) |
I93V |
probably damaging |
Het |
| Cpne1 |
G |
A |
2: 155,920,143 (GRCm39) |
S188L |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,232,725 (GRCm39) |
V2237I |
probably benign |
Het |
| Dguok |
C |
T |
6: 83,467,574 (GRCm39) |
R91H |
probably benign |
Het |
| Eed |
A |
G |
7: 89,618,835 (GRCm39) |
I193T |
probably damaging |
Het |
| Fasn |
C |
T |
11: 120,699,390 (GRCm39) |
E2353K |
probably damaging |
Het |
| Fpr-rs7 |
G |
A |
17: 20,334,011 (GRCm39) |
H160Y |
probably benign |
Het |
| Gramd4 |
T |
A |
15: 86,011,758 (GRCm39) |
M272K |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,022,783 (GRCm39) |
S940P |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,432,652 (GRCm39) |
S363T |
possibly damaging |
Het |
| Jak3 |
A |
G |
8: 72,134,715 (GRCm39) |
N481D |
probably damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,327,330 (GRCm39) |
K40E |
probably benign |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Lpcat4 |
T |
A |
2: 112,070,380 (GRCm39) |
L31H |
possibly damaging |
Het |
| Myo1c |
A |
G |
11: 75,548,345 (GRCm39) |
T38A |
probably benign |
Het |
| Myt1l |
T |
C |
12: 29,970,039 (GRCm39) |
|
probably null |
Het |
| Nbas |
T |
C |
12: 13,338,802 (GRCm39) |
V214A |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,046,389 (GRCm39) |
R6537L |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,965,413 (GRCm39) |
F1666I |
probably benign |
Het |
| Or52z1 |
T |
A |
7: 103,436,723 (GRCm39) |
I254F |
probably damaging |
Het |
| Or8b1 |
A |
G |
9: 38,400,207 (GRCm39) |
N294S |
probably damaging |
Het |
| Prmt8 |
C |
A |
6: 127,706,381 (GRCm39) |
V137L |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,675,148 (GRCm39) |
|
probably null |
Het |
| Rab15 |
A |
G |
12: 76,869,043 (GRCm39) |
S17P |
probably damaging |
Het |
| Rbm5 |
T |
G |
9: 107,629,339 (GRCm39) |
I338L |
probably benign |
Het |
| Rragc |
G |
A |
4: 123,817,767 (GRCm39) |
S218N |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,449,849 (GRCm39) |
M3965T |
probably damaging |
Het |
| Sgo2b |
T |
A |
8: 64,380,322 (GRCm39) |
I837F |
probably benign |
Het |
| Sorcs3 |
T |
G |
19: 48,737,835 (GRCm39) |
C751G |
probably damaging |
Het |
| Sowahc |
A |
G |
10: 59,058,920 (GRCm39) |
D352G |
probably benign |
Het |
| Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
| Spata31f1e |
T |
A |
4: 42,793,492 (GRCm39) |
K213N |
probably damaging |
Het |
| Srr |
A |
G |
11: 74,801,891 (GRCm39) |
V126A |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 49,099,482 (GRCm39) |
R108* |
probably null |
Het |
| Traf3ip2 |
A |
T |
10: 39,517,337 (GRCm39) |
M403L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,544,960 (GRCm39) |
I32714T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,693,849 (GRCm39) |
T218S |
possibly damaging |
Het |
| Uaca |
A |
T |
9: 60,778,052 (GRCm39) |
H811L |
probably damaging |
Het |
| Ugt2b1 |
T |
C |
5: 87,073,813 (GRCm39) |
E182G |
probably benign |
Het |
| Vmn1r49 |
T |
C |
6: 90,049,786 (GRCm39) |
D72G |
probably damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,005,313 (GRCm39) |
M317L |
probably benign |
Het |
| Vwa2 |
T |
C |
19: 56,869,604 (GRCm39) |
L13P |
possibly damaging |
Het |
| Zc3hav1 |
G |
A |
6: 38,284,379 (GRCm39) |
T912I |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,807,776 (GRCm39) |
K323E |
probably benign |
Het |
| Zfyve27 |
T |
G |
19: 42,167,887 (GRCm39) |
V143G |
unknown |
Het |
|
| Other mutations in Trappc11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Trappc11
|
APN |
8 |
47,956,337 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01300:Trappc11
|
APN |
8 |
47,954,903 (GRCm39) |
missense |
probably benign |
|
|
IGL01312:Trappc11
|
APN |
8 |
47,958,712 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01344:Trappc11
|
APN |
8 |
47,972,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01518:Trappc11
|
APN |
8 |
47,954,904 (GRCm39) |
splice site |
probably null |
|
|
IGL01747:Trappc11
|
APN |
8 |
47,972,656 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01781:Trappc11
|
APN |
8 |
47,967,163 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01908:Trappc11
|
APN |
8 |
47,957,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01956:Trappc11
|
APN |
8 |
47,981,036 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02266:Trappc11
|
APN |
8 |
47,958,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02377:Trappc11
|
APN |
8 |
47,983,685 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02530:Trappc11
|
APN |
8 |
47,960,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02676:Trappc11
|
APN |
8 |
47,946,448 (GRCm39) |
splice site |
probably benign |
|
|
IGL03030:Trappc11
|
APN |
8 |
47,966,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03393:Trappc11
|
APN |
8 |
47,963,912 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
bantu
|
UTSW |
8 |
47,951,701 (GRCm39) |
missense |
probably benign |
0.44 |
|
bunyoro
|
UTSW |
8 |
47,965,320 (GRCm39) |
splice site |
probably null |
|
|
nyoro
|
UTSW |
8 |
47,980,014 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
serval
|
UTSW |
8 |
47,957,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Trappc11
|
UTSW |
8 |
47,956,355 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0009:Trappc11
|
UTSW |
8 |
47,956,355 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0043:Trappc11
|
UTSW |
8 |
47,958,610 (GRCm39) |
splice site |
probably benign |
|
|
R0180:Trappc11
|
UTSW |
8 |
47,981,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0529:Trappc11
|
UTSW |
8 |
47,980,014 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0538:Trappc11
|
UTSW |
8 |
47,956,447 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0740:Trappc11
|
UTSW |
8 |
47,977,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1352:Trappc11
|
UTSW |
8 |
47,978,081 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1469:Trappc11
|
UTSW |
8 |
47,957,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Trappc11
|
UTSW |
8 |
47,957,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Trappc11
|
UTSW |
8 |
47,983,862 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1589:Trappc11
|
UTSW |
8 |
47,954,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1741:Trappc11
|
UTSW |
8 |
47,982,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2292:Trappc11
|
UTSW |
8 |
47,958,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2303:Trappc11
|
UTSW |
8 |
47,956,451 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2931:Trappc11
|
UTSW |
8 |
47,956,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3522:Trappc11
|
UTSW |
8 |
47,951,708 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3714:Trappc11
|
UTSW |
8 |
47,958,351 (GRCm39) |
intron |
probably benign |
|
|
R3739:Trappc11
|
UTSW |
8 |
47,967,138 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4165:Trappc11
|
UTSW |
8 |
47,978,003 (GRCm39) |
splice site |
probably benign |
|
|
R4581:Trappc11
|
UTSW |
8 |
47,946,380 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4598:Trappc11
|
UTSW |
8 |
47,966,801 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4939:Trappc11
|
UTSW |
8 |
47,972,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4990:Trappc11
|
UTSW |
8 |
47,943,930 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4994:Trappc11
|
UTSW |
8 |
47,975,476 (GRCm39) |
nonsense |
probably null |
|
|
R5091:Trappc11
|
UTSW |
8 |
47,965,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5123:Trappc11
|
UTSW |
8 |
47,966,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5176:Trappc11
|
UTSW |
8 |
47,963,998 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5279:Trappc11
|
UTSW |
8 |
47,958,339 (GRCm39) |
intron |
probably benign |
|
|
R5293:Trappc11
|
UTSW |
8 |
47,946,377 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5294:Trappc11
|
UTSW |
8 |
47,983,766 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5661:Trappc11
|
UTSW |
8 |
47,965,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5838:Trappc11
|
UTSW |
8 |
47,965,594 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5889:Trappc11
|
UTSW |
8 |
47,972,613 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5952:Trappc11
|
UTSW |
8 |
47,949,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6239:Trappc11
|
UTSW |
8 |
47,982,529 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6322:Trappc11
|
UTSW |
8 |
47,983,808 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6369:Trappc11
|
UTSW |
8 |
47,965,320 (GRCm39) |
splice site |
probably null |
|
|
R7541:Trappc11
|
UTSW |
8 |
47,958,617 (GRCm39) |
splice site |
probably null |
|
|
R7544:Trappc11
|
UTSW |
8 |
47,975,449 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7762:Trappc11
|
UTSW |
8 |
47,975,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7964:Trappc11
|
UTSW |
8 |
47,979,979 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8183:Trappc11
|
UTSW |
8 |
47,982,391 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8282:Trappc11
|
UTSW |
8 |
47,969,624 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8733:Trappc11
|
UTSW |
8 |
47,954,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Trappc11
|
UTSW |
8 |
47,951,701 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8853:Trappc11
|
UTSW |
8 |
47,982,439 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9544:Trappc11
|
UTSW |
8 |
47,972,713 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9709:Trappc11
|
UTSW |
8 |
47,946,348 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGATCTGCTAAAATATAACATGCTC -3'
(R):5'- CTGTGATCGGTGCTGGGAAC -3'
Sequencing Primer
(F):5'- AACTAGTGCACCGCTAAC -3'
(R):5'- GAACCCTGTCAGTTAGAGGAATTC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation