Incidental Mutation 'R0010:Trappc14'
ID |
8128 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trappc14
|
Ensembl Gene |
ENSMUSG00000036948 |
Gene Name |
trafficking protein particle complex 14 |
Synonyms |
Map11, BC037034 |
MMRRC Submission |
038305-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R0010 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
138257918-138262295 bp(-) (GRCm39) |
Type of Mutation |
splice site (4628 bp from exon) |
DNA Base Change (assembly) |
T to C
at 138258555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125084
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048421]
[ENSMUST00000062067]
[ENSMUST00000100530]
[ENSMUST00000159649]
[ENSMUST00000159146]
[ENSMUST00000159123]
[ENSMUST00000161647]
[ENSMUST00000159067]
[ENSMUST00000161279]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048421
AA Change: D564G
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000046898 Gene: ENSMUSG00000036948 AA Change: D564G
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 null
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: ENSMUST00000141454
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159649
AA Change: D295G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125208 Gene: ENSMUSG00000036948 AA Change: D295G
Domain | Start | End | E-Value | Type |
low complexity region
|
219 |
233 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159534
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144460
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162632
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160157
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159872
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159146
|
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 null
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: ENSMUST00000159067
|
SMART Domains |
Protein: ENSMUSP00000125178 Gene: ENSMUSG00000106247
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
7 |
250 |
1e-90 |
PFAM |
|
Predicted Effect |
probably null
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: ENSMUST00000164203
AA Change: D564G
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000127440 Gene: ENSMUSG00000091964 AA Change: D564G
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 |
Pfam:DUF4707
|
139 |
579 |
4.7e-252 |
PFAM |
|
Meta Mutation Damage Score |
0.1392 |
Coding Region Coverage |
- 1x: 79.6%
- 3x: 70.9%
- 10x: 47.0%
- 20x: 26.4%
|
Validation Efficiency |
91% (78/86) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
C |
T |
5: 81,940,250 (GRCm39) |
A1320V |
possibly damaging |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Cd74 |
A |
T |
18: 60,942,143 (GRCm39) |
H124L |
probably benign |
Het |
Cdk5rap2 |
T |
C |
4: 70,161,696 (GRCm39) |
E270G |
probably benign |
Het |
Cldnd1 |
T |
A |
16: 58,551,622 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
T |
C |
9: 64,803,997 (GRCm39) |
L1112P |
probably benign |
Het |
Evc2 |
T |
A |
5: 37,574,793 (GRCm39) |
L1016Q |
probably damaging |
Het |
Fam135b |
T |
C |
15: 71,493,881 (GRCm39) |
K16R |
probably damaging |
Het |
Frem1 |
T |
C |
4: 82,918,335 (GRCm39) |
I536V |
probably benign |
Het |
Ginm1 |
T |
C |
10: 7,651,138 (GRCm39) |
|
probably benign |
Het |
Glrb |
A |
T |
3: 80,767,622 (GRCm39) |
|
probably benign |
Het |
Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
Gm10320 |
T |
C |
13: 98,626,054 (GRCm39) |
Y110C |
probably damaging |
Het |
Intu |
T |
C |
3: 40,608,702 (GRCm39) |
|
probably benign |
Het |
Ltbp1 |
A |
G |
17: 75,670,386 (GRCm39) |
T1476A |
probably damaging |
Het |
Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
Mitf |
A |
G |
6: 97,784,242 (GRCm39) |
K33R |
probably benign |
Het |
Nlgn1 |
G |
T |
3: 25,490,006 (GRCm39) |
|
probably benign |
Het |
Nup133 |
A |
T |
8: 124,631,318 (GRCm39) |
I1072N |
probably damaging |
Het |
Rock1 |
T |
A |
18: 10,084,380 (GRCm39) |
D951V |
probably damaging |
Het |
Scgb2b26 |
T |
A |
7: 33,643,774 (GRCm39) |
E55D |
probably damaging |
Het |
Scn8a |
T |
C |
15: 100,911,454 (GRCm39) |
V958A |
probably damaging |
Het |
Sgk1 |
G |
A |
10: 21,873,337 (GRCm39) |
|
probably null |
Het |
Shprh |
C |
T |
10: 11,027,675 (GRCm39) |
T94I |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,771,082 (GRCm39) |
|
probably benign |
Het |
Spta1 |
G |
A |
1: 174,045,509 (GRCm39) |
V1556I |
probably benign |
Het |
Trappc4 |
G |
A |
9: 44,316,528 (GRCm39) |
|
probably benign |
Het |
Txlna |
T |
G |
4: 129,522,879 (GRCm39) |
D487A |
probably benign |
Het |
Ube2d2b |
T |
C |
5: 107,978,502 (GRCm39) |
F51S |
possibly damaging |
Het |
Wdfy3 |
T |
C |
5: 101,996,215 (GRCm39) |
T3234A |
probably damaging |
Het |
Zbtb41 |
T |
G |
1: 139,351,268 (GRCm39) |
V127G |
probably damaging |
Het |
Zfp608 |
A |
T |
18: 55,028,286 (GRCm39) |
|
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 |
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 |
|
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 |
2012-11-20 |