Incidental Mutation 'IGL03151:Trappc14'
ID |
411096 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trappc14
|
Ensembl Gene |
ENSMUSG00000036948 |
Gene Name |
trafficking protein particle complex 14 |
Synonyms |
Map11, BC037034 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
IGL03151
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
138257918-138262295 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 138260934 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 237
(L237S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048421]
[ENSMUST00000062067]
[ENSMUST00000100530]
[ENSMUST00000159649]
[ENSMUST00000159123]
[ENSMUST00000159146]
[ENSMUST00000161647]
[ENSMUST00000161279]
[ENSMUST00000159067]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048421
AA Change: L237S
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000046898 Gene: ENSMUSG00000036948 AA Change: L237S
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 |
noncoding transcript
Transcript: ENSMUST00000124298
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125662
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138911
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159534
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160157
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144460
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159872
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141454
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159649
|
SMART Domains |
Protein: ENSMUSP00000125208 Gene: ENSMUSG00000036948
Domain | Start | End | E-Value | Type |
low complexity region
|
219 |
233 |
N/A |
INTRINSIC |
|
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: 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 |
|
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: ENSMUST00000159067
|
SMART Domains |
Protein: ENSMUSP00000125178 Gene: ENSMUSG00000106247
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
7 |
250 |
1e-90 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162632
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot1 |
G |
A |
12: 84,061,326 (GRCm39) |
A211T |
probably damaging |
Het |
Ampd1 |
T |
C |
3: 102,999,786 (GRCm39) |
|
probably null |
Het |
Armc3 |
T |
G |
2: 19,243,509 (GRCm39) |
L75R |
probably damaging |
Het |
Atp9b |
T |
C |
18: 80,820,065 (GRCm39) |
D573G |
probably benign |
Het |
Baz1a |
T |
A |
12: 54,955,934 (GRCm39) |
|
probably null |
Het |
C1ra |
A |
T |
6: 124,496,730 (GRCm39) |
I389F |
probably benign |
Het |
Ccdc87 |
T |
A |
19: 4,891,585 (GRCm39) |
N692K |
probably benign |
Het |
Ccr9 |
A |
G |
9: 123,603,638 (GRCm39) |
|
probably benign |
Het |
Ces4a |
G |
T |
8: 105,874,829 (GRCm39) |
|
probably null |
Het |
Dazap1 |
G |
A |
10: 80,116,754 (GRCm39) |
|
probably benign |
Het |
Dock5 |
A |
G |
14: 68,103,516 (GRCm39) |
Y45H |
probably damaging |
Het |
Eloa |
A |
T |
4: 135,737,732 (GRCm39) |
Y409* |
probably null |
Het |
Fam170a |
A |
G |
18: 50,414,708 (GRCm39) |
E118G |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Glra1 |
C |
T |
11: 55,418,206 (GRCm39) |
V180I |
probably damaging |
Het |
Il17rb |
T |
C |
14: 29,728,810 (GRCm39) |
T28A |
probably benign |
Het |
Ints9 |
T |
A |
14: 65,269,789 (GRCm39) |
V493E |
possibly damaging |
Het |
Kcnq5 |
C |
T |
1: 21,605,293 (GRCm39) |
C204Y |
probably damaging |
Het |
Npc1 |
A |
T |
18: 12,352,332 (GRCm39) |
N122K |
probably benign |
Het |
Or2b4 |
G |
A |
17: 38,116,159 (GRCm39) |
G41D |
probably damaging |
Het |
Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
Prss21 |
A |
G |
17: 24,088,376 (GRCm39) |
T114A |
probably damaging |
Het |
Prss59 |
A |
G |
6: 40,902,946 (GRCm39) |
F142S |
probably damaging |
Het |
Rab10 |
G |
A |
12: 3,299,812 (GRCm39) |
T193M |
probably benign |
Het |
Serpini1 |
T |
A |
3: 75,520,603 (GRCm39) |
S67T |
probably benign |
Het |
Slc35b1 |
T |
C |
11: 95,281,212 (GRCm39) |
|
probably null |
Het |
Sorbs2 |
A |
T |
8: 46,252,750 (GRCm39) |
H388L |
probably benign |
Het |
Tfap2c |
T |
A |
2: 172,399,110 (GRCm39) |
C427* |
probably null |
Het |
Ttn |
G |
T |
2: 76,632,732 (GRCm39) |
F14107L |
probably damaging |
Het |
Upf1 |
G |
T |
8: 70,788,037 (GRCm39) |
T774K |
probably damaging |
Het |
Vmn1r170 |
G |
A |
7: 23,306,002 (GRCm39) |
V135M |
probably benign |
Het |
Vmn2r14 |
C |
T |
5: 109,364,260 (GRCm39) |
C552Y |
probably damaging |
Het |
Zfp367 |
A |
G |
13: 64,293,445 (GRCm39) |
I147T |
probably damaging |
Het |
Zfp952 |
T |
C |
17: 33,221,982 (GRCm39) |
S116P |
probably benign |
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 |
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 |
|
R6918:Trappc14
|
UTSW |
5 |
138,258,926 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
|
Posted On |
2016-08-02 |