Incidental Mutation 'R6918:Trappc14'
ID |
539439 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trappc14
|
Ensembl Gene |
ENSMUSG00000036948 |
Gene Name |
trafficking protein particle complex 14 |
Synonyms |
Map11, BC037034 |
MMRRC Submission |
045005-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R6918 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
138257918-138262295 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 138258926 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 211
(V211A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125208
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048421]
[ENSMUST00000062067]
[ENSMUST00000100530]
[ENSMUST00000159067]
[ENSMUST00000159123]
[ENSMUST00000159146]
[ENSMUST00000159649]
[ENSMUST00000161279]
[ENSMUST00000161647]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048421
AA Change: V480A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000046898 Gene: ENSMUSG00000036948 AA Change: V480A
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
71 |
N/A |
INTRINSIC |
low complexity region
|
75 |
93 |
N/A |
INTRINSIC |
low complexity region
|
95 |
114 |
N/A |
INTRINSIC |
low complexity region
|
215 |
225 |
N/A |
INTRINSIC |
low complexity region
|
488 |
502 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000062067
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100530
|
SMART Domains |
Protein: ENSMUSP00000098099 Gene: ENSMUSG00000075593
Domain | Start | End | E-Value | Type |
Pfam:Gal-3-0_sulfotr
|
2 |
231 |
1.1e-57 |
PFAM |
Pfam:Gal-3-0_sulfotr
|
270 |
463 |
1e-54 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159067
|
SMART Domains |
Protein: ENSMUSP00000125178 Gene: ENSMUSG00000106247
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
7 |
250 |
1e-90 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159123
|
SMART Domains |
Protein: ENSMUSP00000137679 Gene: ENSMUSG00000036948
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
71 |
N/A |
INTRINSIC |
low complexity region
|
75 |
93 |
N/A |
INTRINSIC |
low complexity region
|
95 |
114 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159146
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159649
AA Change: V211A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000125208 Gene: ENSMUSG00000036948 AA Change: V211A
Domain | Start | End | E-Value | Type |
low complexity region
|
219 |
233 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161279
|
SMART Domains |
Protein: ENSMUSP00000124841 Gene: ENSMUSG00000075593
Domain | Start | End | E-Value | Type |
Pfam:Gal-3-0_sulfotr
|
2 |
231 |
1.1e-57 |
PFAM |
Pfam:Gal-3-0_sulfotr
|
270 |
463 |
1e-54 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161647
|
SMART Domains |
Protein: ENSMUSP00000125084 Gene: ENSMUSG00000075593
Domain | Start | End | E-Value | Type |
Pfam:Gal-3-0_sulfotr
|
4 |
226 |
5.3e-58 |
PFAM |
Pfam:Gal-3-0_sulfotr
|
265 |
458 |
3.8e-55 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
A |
C |
17: 24,627,632 (GRCm39) |
K1359Q |
probably damaging |
Het |
Ace |
T |
C |
11: 105,863,769 (GRCm39) |
Y406H |
probably damaging |
Het |
Acsl6 |
A |
G |
11: 54,232,582 (GRCm39) |
|
probably null |
Het |
Alms1 |
T |
A |
6: 85,599,643 (GRCm39) |
Y1959N |
possibly damaging |
Het |
Chrna7 |
T |
A |
7: 62,809,299 (GRCm39) |
I76F |
probably benign |
Het |
Cuedc1 |
C |
T |
11: 88,077,899 (GRCm39) |
T296I |
probably benign |
Het |
Ddc |
A |
G |
11: 11,769,307 (GRCm39) |
V409A |
probably damaging |
Het |
Dhx8 |
T |
A |
11: 101,629,247 (GRCm39) |
Y212* |
probably null |
Het |
Dnah6 |
T |
A |
6: 73,158,738 (GRCm39) |
K622* |
probably null |
Het |
Dscaml1 |
A |
G |
9: 45,341,805 (GRCm39) |
H72R |
probably benign |
Het |
Dyrk1b |
A |
G |
7: 27,885,350 (GRCm39) |
D396G |
probably damaging |
Het |
Gstm2 |
A |
G |
3: 107,892,557 (GRCm39) |
|
probably null |
Het |
Hsd3b1 |
A |
G |
3: 98,760,425 (GRCm39) |
Y189H |
probably damaging |
Het |
Kif1c |
G |
A |
11: 70,597,813 (GRCm39) |
E356K |
probably damaging |
Het |
Kirrel2 |
A |
C |
7: 30,150,239 (GRCm39) |
C17G |
probably damaging |
Het |
Klhl12 |
A |
G |
1: 134,403,584 (GRCm39) |
H259R |
possibly damaging |
Het |
Krt1 |
A |
G |
15: 101,758,612 (GRCm39) |
V184A |
probably damaging |
Het |
Lmod2 |
A |
T |
6: 24,603,594 (GRCm39) |
N190Y |
probably benign |
Het |
Lrp2 |
A |
C |
2: 69,319,649 (GRCm39) |
V1958G |
probably damaging |
Het |
Ly6h |
T |
C |
15: 75,437,507 (GRCm39) |
S37G |
probably damaging |
Het |
Man2a2 |
A |
T |
7: 80,002,940 (GRCm39) |
H1056Q |
possibly damaging |
Het |
Misp3 |
T |
G |
8: 84,738,313 (GRCm39) |
M1L |
probably benign |
Het |
Mixl1 |
T |
A |
1: 180,522,243 (GRCm39) |
I213F |
probably benign |
Het |
Morc3 |
T |
C |
16: 93,650,023 (GRCm39) |
I268T |
probably benign |
Het |
Mtx2 |
C |
T |
2: 74,706,697 (GRCm39) |
T224I |
probably damaging |
Het |
Or8c15 |
G |
A |
9: 38,120,948 (GRCm39) |
V198M |
possibly damaging |
Het |
Oscp1 |
A |
C |
4: 125,970,571 (GRCm39) |
D120A |
possibly damaging |
Het |
Parp1 |
G |
A |
1: 180,416,235 (GRCm39) |
V545I |
possibly damaging |
Het |
Pipox |
A |
G |
11: 77,772,380 (GRCm39) |
I330T |
probably damaging |
Het |
Pkp2 |
A |
G |
16: 16,090,082 (GRCm39) |
Y790C |
probably damaging |
Het |
Pomt1 |
T |
A |
2: 32,142,873 (GRCm39) |
|
probably null |
Het |
Pp2d1 |
G |
A |
17: 53,822,487 (GRCm39) |
T193M |
probably damaging |
Het |
Prkra |
G |
T |
2: 76,460,797 (GRCm39) |
H300Q |
probably damaging |
Het |
Ror2 |
T |
G |
13: 53,265,487 (GRCm39) |
N523T |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,069,831 (GRCm39) |
D1355E |
unknown |
Het |
Rsph4a |
T |
C |
10: 33,781,272 (GRCm39) |
Y41H |
probably benign |
Het |
Scn1a |
T |
A |
2: 66,162,557 (GRCm39) |
I230F |
probably damaging |
Het |
Taar7e |
T |
A |
10: 23,913,513 (GRCm39) |
M1K |
probably null |
Het |
Tex15 |
T |
G |
8: 34,063,212 (GRCm39) |
L1155V |
probably benign |
Het |
Tmprss3 |
T |
C |
17: 31,407,331 (GRCm39) |
K321E |
probably benign |
Het |
Tsc2 |
A |
T |
17: 24,832,203 (GRCm39) |
C728S |
probably damaging |
Het |
Ube2e3 |
A |
T |
2: 78,750,383 (GRCm39) |
K203M |
probably damaging |
Het |
Unc50 |
A |
T |
1: 37,477,783 (GRCm39) |
T222S |
probably damaging |
Het |
Vmn1r236 |
A |
T |
17: 21,507,878 (GRCm39) |
H332L |
probably benign |
Het |
Vmn2r7 |
G |
A |
3: 64,598,760 (GRCm39) |
T599I |
probably benign |
Het |
Zfp334 |
A |
T |
2: 165,223,799 (GRCm39) |
D81E |
possibly damaging |
Het |
Zfp710 |
A |
G |
7: 79,731,788 (GRCm39) |
I322V |
possibly damaging |
Het |
|
Other mutations in Trappc14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00517:Trappc14
|
APN |
5 |
138,259,967 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01617:Trappc14
|
APN |
5 |
138,260,478 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02256:Trappc14
|
APN |
5 |
138,258,577 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02493:Trappc14
|
APN |
5 |
138,261,432 (GRCm39) |
splice site |
probably null |
|
IGL02904:Trappc14
|
APN |
5 |
138,258,864 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03151:Trappc14
|
APN |
5 |
138,260,934 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0005:Trappc14
|
UTSW |
5 |
138,260,916 (GRCm39) |
splice site |
probably null |
|
R0010:Trappc14
|
UTSW |
5 |
138,258,555 (GRCm39) |
splice site |
probably null |
|
R0010:Trappc14
|
UTSW |
5 |
138,258,555 (GRCm39) |
splice site |
probably null |
|
R0619:Trappc14
|
UTSW |
5 |
138,262,088 (GRCm39) |
unclassified |
probably benign |
|
R0630:Trappc14
|
UTSW |
5 |
138,260,551 (GRCm39) |
missense |
probably damaging |
0.98 |
R1579:Trappc14
|
UTSW |
5 |
138,260,128 (GRCm39) |
missense |
probably benign |
0.00 |
R1778:Trappc14
|
UTSW |
5 |
138,260,739 (GRCm39) |
splice site |
probably null |
|
R1816:Trappc14
|
UTSW |
5 |
138,258,603 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2009:Trappc14
|
UTSW |
5 |
138,259,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R4711:Trappc14
|
UTSW |
5 |
138,261,167 (GRCm39) |
unclassified |
probably benign |
|
R4923:Trappc14
|
UTSW |
5 |
138,260,641 (GRCm39) |
unclassified |
probably benign |
|
R4999:Trappc14
|
UTSW |
5 |
138,259,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R5103:Trappc14
|
UTSW |
5 |
138,260,562 (GRCm39) |
missense |
probably benign |
0.15 |
R5221:Trappc14
|
UTSW |
5 |
138,260,502 (GRCm39) |
missense |
probably benign |
0.14 |
R5444:Trappc14
|
UTSW |
5 |
138,259,260 (GRCm39) |
splice site |
probably null |
|
R5720:Trappc14
|
UTSW |
5 |
138,261,964 (GRCm39) |
missense |
probably benign |
0.00 |
R6519:Trappc14
|
UTSW |
5 |
138,260,110 (GRCm39) |
missense |
probably damaging |
0.99 |
R6599:Trappc14
|
UTSW |
5 |
138,261,720 (GRCm39) |
splice site |
probably null |
|
R7275:Trappc14
|
UTSW |
5 |
138,261,839 (GRCm39) |
missense |
probably benign |
0.18 |
R7460:Trappc14
|
UTSW |
5 |
138,260,991 (GRCm39) |
missense |
probably benign |
0.32 |
R7564:Trappc14
|
UTSW |
5 |
138,261,104 (GRCm39) |
splice site |
probably null |
|
R8745:Trappc14
|
UTSW |
5 |
138,261,327 (GRCm39) |
critical splice donor site |
probably null |
|
R9043:Trappc14
|
UTSW |
5 |
138,259,889 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9057:Trappc14
|
UTSW |
5 |
138,260,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R9540:Trappc14
|
UTSW |
5 |
138,260,127 (GRCm39) |
missense |
probably benign |
0.28 |
R9607:Trappc14
|
UTSW |
5 |
138,259,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R9798:Trappc14
|
UTSW |
5 |
138,259,940 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTCTTGGTCAGACTGATAGC -3'
(R):5'- TACCTTCAGTGTGGCCTTCCAG -3'
Sequencing Primer
(F):5'- GGTCAGACTGATAGCAATCCTAGTC -3'
(R):5'- TTCCAGGCCCTGAGGAC -3'
|
Posted On |
2018-11-06 |