Incidental Mutation 'R6533:Trappc10'
| ID |
520207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc10
|
| Ensembl Gene |
ENSMUSG00000000374 |
| Gene Name |
trafficking protein particle complex 10 |
| Synonyms |
B230307C21Rik, Tmem1, b2b2613Clo, b2b2416Clo, LOC380642 |
| MMRRC Submission |
044659-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6533 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
78022559-78080475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78024728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1134
(M1134V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000384]
[ENSMUST00000042556]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000384
AA Change: M1134V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000000384
Gene: ENSMUSG00000000374
AA Change: M1134V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRAPPC10
|
1016 |
1245 |
1.1e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042556
|
| SMART Domains |
Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
83 |
1.47e2 |
SMART |
|
WD40
|
86 |
123 |
1.78e1 |
SMART |
|
WD40
|
133 |
172 |
5.35e-1 |
SMART |
|
WD40
|
177 |
216 |
8.29e-1 |
SMART |
|
low complexity region
|
239 |
254 |
N/A |
INTRINSIC |
|
WD40
|
273 |
316 |
1.9e2 |
SMART |
|
WD40
|
319 |
359 |
4.44e0 |
SMART |
|
WD40
|
362 |
401 |
7.44e-8 |
SMART |
|
WD40
|
404 |
443 |
3.87e-6 |
SMART |
|
WD40
|
446 |
487 |
5.7e1 |
SMART |
|
WD40
|
490 |
529 |
1.28e-11 |
SMART |
|
WD40
|
533 |
571 |
9.94e-1 |
SMART |
|
WD40
|
594 |
633 |
4.95e0 |
SMART |
|
WD40
|
692 |
729 |
2.21e1 |
SMART |
|
Pfam:Utp12
|
771 |
875 |
9.4e-25 |
PFAM |
|
low complexity region
|
890 |
902 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219948
|
| Meta Mutation Damage Score |
0.3540 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (44/44) |
| 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 transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit cardiovascular phenotypes, including atrioventricular or ventricular septal defects, thymus hypoplasia, and eye defects such as microphthalmia or anophthalmia. Holoprosencephaly, anencephaly and severe craniofacial defects may be also present. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010B08Rik |
C |
T |
2: 173,561,628 (GRCm39) |
|
probably benign |
Het |
| 4932414N04Rik |
G |
T |
2: 68,546,662 (GRCm39) |
E115* |
probably null |
Het |
| Abhd16a |
G |
A |
17: 35,317,785 (GRCm39) |
|
probably null |
Het |
| Ankrd28 |
T |
A |
14: 31,454,041 (GRCm39) |
I244L |
possibly damaging |
Het |
| Barx2 |
T |
C |
9: 31,824,275 (GRCm39) |
Y38C |
probably damaging |
Het |
| Btn2a2 |
C |
A |
13: 23,665,951 (GRCm39) |
E294* |
probably null |
Het |
| Ceacam2 |
C |
G |
7: 25,230,136 (GRCm39) |
V157L |
probably benign |
Het |
| Ces2c |
T |
A |
8: 105,578,725 (GRCm39) |
F334L |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,790,426 (GRCm39) |
I958T |
unknown |
Het |
| Dcp2 |
T |
A |
18: 44,532,731 (GRCm39) |
D82E |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,965,964 (GRCm39) |
L2432S |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,342,590 (GRCm39) |
D7582G |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,910,195 (GRCm39) |
I1936L |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,763,909 (GRCm39) |
N396I |
probably damaging |
Het |
| Lonrf2 |
A |
C |
1: 38,852,349 (GRCm39) |
D167E |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,933,663 (GRCm39) |
D1575G |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,769,518 (GRCm39) |
L101P |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,981,245 (GRCm39) |
I703V |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,549,007 (GRCm39) |
A1257V |
probably benign |
Het |
| Nipal4 |
A |
T |
11: 46,041,234 (GRCm39) |
Y320* |
probably null |
Het |
| Obox5 |
A |
T |
7: 15,491,532 (GRCm39) |
Q24L |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,454,644 (GRCm39) |
S345P |
probably benign |
Het |
| P4hb |
A |
T |
11: 120,462,469 (GRCm39) |
I79N |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,845,399 (GRCm39) |
I1262N |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,022,697 (GRCm39) |
N291K |
probably benign |
Het |
| Ppargc1b |
C |
T |
18: 61,440,845 (GRCm39) |
R691H |
possibly damaging |
Het |
| Ppm1m |
T |
C |
9: 106,074,069 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,046,765 (GRCm39) |
D500E |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,965,151 (GRCm39) |
|
probably null |
Het |
| Rnf214 |
A |
G |
9: 45,811,361 (GRCm39) |
S101P |
probably benign |
Het |
| Sdhc |
A |
G |
1: 170,957,396 (GRCm39) |
S162P |
possibly damaging |
Het |
| Spta1 |
C |
T |
1: 174,071,713 (GRCm39) |
T2231I |
probably damaging |
Het |
| Stxbp2 |
T |
A |
8: 3,692,683 (GRCm39) |
D578E |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,224,567 (GRCm39) |
E417D |
possibly damaging |
Het |
| Tas2r144 |
A |
T |
6: 42,192,280 (GRCm39) |
N7Y |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,676,277 (GRCm39) |
*421R |
probably null |
Het |
| Tigd5 |
A |
G |
15: 75,782,039 (GRCm39) |
I134V |
possibly damaging |
Het |
| Tmem95 |
A |
T |
11: 69,768,843 (GRCm39) |
M1K |
probably null |
Het |
| Unc45a |
T |
G |
7: 79,983,817 (GRCm39) |
K326N |
probably damaging |
Het |
| Vmn1r59 |
A |
G |
7: 5,457,463 (GRCm39) |
V99A |
probably benign |
Het |
| Vmn2r4 |
T |
C |
3: 64,322,519 (GRCm39) |
T67A |
probably benign |
Het |
| Vmn2r85 |
A |
T |
10: 130,262,529 (GRCm39) |
M70K |
probably benign |
Het |
| Zftraf1 |
C |
A |
15: 76,531,930 (GRCm39) |
E283* |
probably null |
Het |
| Zkscan8 |
A |
G |
13: 21,704,748 (GRCm39) |
F325S |
probably damaging |
Het |
|
| Other mutations in Trappc10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Trappc10
|
APN |
10 |
78,039,711 (GRCm39) |
splice site |
probably benign |
|
|
IGL01375:Trappc10
|
APN |
10 |
78,024,733 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01413:Trappc10
|
APN |
10 |
78,033,678 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02413:Trappc10
|
APN |
10 |
78,046,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03037:Trappc10
|
APN |
10 |
78,034,869 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03094:Trappc10
|
APN |
10 |
78,064,754 (GRCm39) |
splice site |
probably benign |
|
|
IGL03164:Trappc10
|
APN |
10 |
78,056,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03351:Trappc10
|
APN |
10 |
78,024,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03055:Trappc10
|
UTSW |
10 |
78,050,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03098:Trappc10
|
UTSW |
10 |
78,050,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:Trappc10
|
UTSW |
10 |
78,046,594 (GRCm39) |
splice site |
probably benign |
|
|
R0605:Trappc10
|
UTSW |
10 |
78,037,331 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1806:Trappc10
|
UTSW |
10 |
78,046,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1856:Trappc10
|
UTSW |
10 |
78,032,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2045:Trappc10
|
UTSW |
10 |
78,045,313 (GRCm39) |
splice site |
probably benign |
|
|
R2088:Trappc10
|
UTSW |
10 |
78,032,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2126:Trappc10
|
UTSW |
10 |
78,039,758 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2202:Trappc10
|
UTSW |
10 |
78,034,876 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2509:Trappc10
|
UTSW |
10 |
78,047,357 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2510:Trappc10
|
UTSW |
10 |
78,047,357 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2511:Trappc10
|
UTSW |
10 |
78,047,357 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2893:Trappc10
|
UTSW |
10 |
78,029,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3744:Trappc10
|
UTSW |
10 |
78,034,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3778:Trappc10
|
UTSW |
10 |
78,036,636 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3876:Trappc10
|
UTSW |
10 |
78,056,020 (GRCm39) |
splice site |
probably null |
|
|
R3930:Trappc10
|
UTSW |
10 |
78,046,237 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4078:Trappc10
|
UTSW |
10 |
78,046,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4111:Trappc10
|
UTSW |
10 |
78,032,264 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4418:Trappc10
|
UTSW |
10 |
78,053,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4549:Trappc10
|
UTSW |
10 |
78,067,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4695:Trappc10
|
UTSW |
10 |
78,033,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4799:Trappc10
|
UTSW |
10 |
78,037,424 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5022:Trappc10
|
UTSW |
10 |
78,052,994 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5023:Trappc10
|
UTSW |
10 |
78,052,994 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5026:Trappc10
|
UTSW |
10 |
78,040,122 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5057:Trappc10
|
UTSW |
10 |
78,052,994 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5282:Trappc10
|
UTSW |
10 |
78,023,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5363:Trappc10
|
UTSW |
10 |
78,024,674 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5813:Trappc10
|
UTSW |
10 |
78,058,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5831:Trappc10
|
UTSW |
10 |
78,045,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6209:Trappc10
|
UTSW |
10 |
78,050,646 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6450:Trappc10
|
UTSW |
10 |
78,045,284 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6520:Trappc10
|
UTSW |
10 |
78,037,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6767:Trappc10
|
UTSW |
10 |
78,029,345 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6798:Trappc10
|
UTSW |
10 |
78,024,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7205:Trappc10
|
UTSW |
10 |
78,046,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7282:Trappc10
|
UTSW |
10 |
78,043,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7378:Trappc10
|
UTSW |
10 |
78,029,252 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7384:Trappc10
|
UTSW |
10 |
78,045,218 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7770:Trappc10
|
UTSW |
10 |
78,046,679 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7829:Trappc10
|
UTSW |
10 |
78,034,909 (GRCm39) |
missense |
probably benign |
|
|
R7839:Trappc10
|
UTSW |
10 |
78,024,646 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8298:Trappc10
|
UTSW |
10 |
78,038,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8306:Trappc10
|
UTSW |
10 |
78,036,460 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8814:Trappc10
|
UTSW |
10 |
78,038,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Trappc10
|
UTSW |
10 |
78,043,723 (GRCm39) |
unclassified |
probably benign |
|
|
R9075:Trappc10
|
UTSW |
10 |
78,040,130 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9112:Trappc10
|
UTSW |
10 |
78,029,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9182:Trappc10
|
UTSW |
10 |
78,050,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9444:Trappc10
|
UTSW |
10 |
78,033,612 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9801:Trappc10
|
UTSW |
10 |
78,045,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Trappc10
|
UTSW |
10 |
78,052,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAAGTAAGGCGGGTCTGC -3'
(R):5'- AGTTGAGTGTTGCACCAAAAC -3'
Sequencing Primer
(F):5'- GCGGGTCTGCCTTCTGTAAAC -3'
(R):5'- GCACATGCTCATTCTAAGGTGGAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation