Incidental Mutation 'R6239:Trappc11'
| ID |
505123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc11
|
| Ensembl Gene |
ENSMUSG00000038102 |
| Gene Name |
trafficking protein particle complex 11 |
| Synonyms |
D030016E14Rik |
| MMRRC Submission |
044363-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
47943163-47986505 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 47982529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 70
(T70M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033973]
[ENSMUST00000039061]
[ENSMUST00000175692]
[ENSMUST00000176379]
|
| AlphaFold |
B2RXC1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033973
|
| SMART Domains |
Protein: ENSMUSP00000033973
Gene: ENSMUSG00000031568
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
9 |
111 |
1.07e-12 |
SMART |
|
low complexity region
|
131 |
153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039061
AA Change: T70M
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102
AA Change: T70M
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175692
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176379
|
| SMART Domains |
Protein: ENSMUSP00000135059
Gene: ENSMUSG00000031568
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
9 |
111 |
1.07e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
T |
A |
1: 78,674,182 (GRCm39) |
S373T |
probably benign |
Het |
| Aox1 |
G |
A |
1: 58,344,550 (GRCm39) |
|
probably null |
Het |
| Apol7c |
T |
C |
15: 77,410,631 (GRCm39) |
E105G |
probably benign |
Het |
| B4galnt2 |
C |
T |
11: 95,767,065 (GRCm39) |
A184T |
probably damaging |
Het |
| Castor1 |
A |
G |
11: 4,168,967 (GRCm39) |
T45A |
possibly damaging |
Het |
| Casz1 |
A |
G |
4: 149,022,734 (GRCm39) |
Q600R |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,421,332 (GRCm39) |
S1133T |
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,233,927 (GRCm39) |
I2290V |
possibly damaging |
Het |
| Clmn |
A |
T |
12: 104,747,104 (GRCm39) |
H814Q |
probably benign |
Het |
| Creb3l1 |
A |
G |
2: 91,825,748 (GRCm39) |
C124R |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,795,466 (GRCm39) |
D1067G |
probably benign |
Het |
| Cyp1a1 |
T |
A |
9: 57,609,361 (GRCm39) |
V354E |
probably benign |
Het |
| Cyp2t4 |
A |
T |
7: 26,856,900 (GRCm39) |
Q280L |
possibly damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,178,839 (GRCm39) |
D563E |
possibly damaging |
Het |
| Dennd2a |
A |
G |
6: 39,465,750 (GRCm39) |
F607L |
probably damaging |
Het |
| Dennd2d |
T |
A |
3: 106,402,193 (GRCm39) |
F288I |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,029,333 (GRCm39) |
R4101C |
probably damaging |
Het |
| Dnai4 |
A |
C |
4: 102,923,640 (GRCm39) |
N396K |
probably benign |
Het |
| Dnase2a |
G |
T |
8: 85,635,508 (GRCm39) |
|
probably null |
Het |
| Dnmbp |
C |
T |
19: 43,836,624 (GRCm39) |
V1235I |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,699,275 (GRCm39) |
D1826G |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,315 (GRCm39) |
Y337C |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,108,579 (GRCm39) |
E202D |
probably benign |
Het |
| Fus |
C |
T |
7: 127,580,606 (GRCm39) |
R228C |
possibly damaging |
Het |
| Gbf1 |
A |
G |
19: 46,248,135 (GRCm39) |
E304G |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,421,515 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
A |
T |
8: 36,245,918 (GRCm39) |
D354V |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,982,694 (GRCm39) |
D8G |
probably benign |
Het |
| Hhat |
A |
T |
1: 192,277,395 (GRCm39) |
Y355N |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,247,946 (GRCm39) |
V268A |
probably benign |
Het |
| Il4i1 |
A |
G |
7: 44,489,836 (GRCm39) |
R542G |
probably benign |
Het |
| Itga2b |
C |
T |
11: 102,356,144 (GRCm39) |
V328I |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,093 (GRCm39) |
|
probably benign |
Het |
| Lrit3 |
A |
T |
3: 129,593,995 (GRCm39) |
I194N |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,872,717 (GRCm39) |
L2025P |
probably benign |
Het |
| Neb |
T |
C |
2: 52,164,000 (GRCm39) |
N1986S |
probably benign |
Het |
| Osbpl7 |
G |
A |
11: 96,943,650 (GRCm39) |
|
probably null |
Het |
| Pabpc2 |
T |
A |
18: 39,906,891 (GRCm39) |
L52Q |
probably damaging |
Het |
| Pald1 |
T |
C |
10: 61,156,910 (GRCm39) |
S847G |
possibly damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,415,454 (GRCm39) |
D557G |
probably damaging |
Het |
| Prmt2 |
A |
T |
10: 76,058,425 (GRCm39) |
L128* |
probably null |
Het |
| Ptpn3 |
C |
A |
4: 57,249,981 (GRCm39) |
A172S |
probably benign |
Het |
| Ptpro |
A |
T |
6: 137,357,606 (GRCm39) |
T366S |
probably benign |
Het |
| Reg4 |
A |
G |
3: 98,138,600 (GRCm39) |
K100R |
probably null |
Het |
| Rims2 |
A |
T |
15: 39,061,758 (GRCm39) |
M1L |
unknown |
Het |
| Sele |
A |
G |
1: 163,878,377 (GRCm39) |
S239G |
probably damaging |
Het |
| Slc11a1 |
G |
A |
1: 74,423,274 (GRCm39) |
R375Q |
possibly damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,248,617 (GRCm39) |
T554A |
unknown |
Het |
| Snw1 |
A |
T |
12: 87,511,398 (GRCm39) |
N84K |
probably damaging |
Het |
| Stpg4 |
T |
C |
17: 87,718,667 (GRCm39) |
Y171C |
probably benign |
Het |
| Styxl2 |
A |
T |
1: 165,926,388 (GRCm39) |
S1075T |
probably damaging |
Het |
| Tmem222 |
T |
A |
4: 132,995,606 (GRCm39) |
H147L |
probably damaging |
Het |
| Tmprss11f |
G |
T |
5: 86,681,636 (GRCm39) |
R206S |
probably damaging |
Het |
| Trpv4 |
G |
A |
5: 114,782,887 (GRCm39) |
T25I |
probably benign |
Het |
| Ttr |
T |
C |
18: 20,806,692 (GRCm39) |
V114A |
possibly damaging |
Het |
| Umod |
C |
T |
7: 119,076,520 (GRCm39) |
C82Y |
probably damaging |
Het |
| Upk3a |
T |
A |
15: 84,905,515 (GRCm39) |
M208K |
probably damaging |
Het |
| Vmn1r59 |
G |
A |
7: 5,457,539 (GRCm39) |
P74S |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,393,457 (GRCm39) |
R851S |
probably benign |
Het |
| Zfp236 |
G |
T |
18: 82,675,229 (GRCm39) |
T421K |
possibly damaging |
Het |
| Zswim9 |
C |
A |
7: 12,995,257 (GRCm39) |
G300* |
probably null |
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 |
|
|
R5959:Trappc11
|
UTSW |
8 |
47,954,593 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- TAGTGAGCAGACCCTTGCAAG -3'
(R):5'- CCTCTCATGGGAAGTGTAGTG -3'
Sequencing Primer
(F):5'- TTGCAAGCCCCGCTGTG -3'
(R):5'- GTGGGGTTGAGGTTCCACTC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation