Incidental Mutation 'R0005:Trappc14'
ID |
201302 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trappc14
|
Ensembl Gene |
ENSMUSG00000036948 |
Gene Name |
trafficking protein particle complex 14 |
Synonyms |
Map11, BC037034 |
MMRRC Submission |
038301-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R0005 (G1)
|
Quality Score |
80 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
138257918-138262295 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 138260916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048421]
[ENSMUST00000048421]
[ENSMUST00000062067]
[ENSMUST00000100530]
[ENSMUST00000159123]
[ENSMUST00000159123]
[ENSMUST00000159649]
[ENSMUST00000159649]
[ENSMUST00000159146]
[ENSMUST00000161647]
[ENSMUST00000159067]
[ENSMUST00000161279]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000048421
|
SMART Domains |
Protein: ENSMUSP00000046898 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 |
low complexity region
|
215 |
225 |
N/A |
INTRINSIC |
low complexity region
|
488 |
502 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000048421
|
SMART Domains |
Protein: ENSMUSP00000046898 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 |
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 |
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: 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 |
noncoding transcript
Transcript: ENSMUST00000159534
|
Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000159649
|
SMART Domains |
Protein: ENSMUSP00000125208 Gene: ENSMUSG00000036948
Domain | Start | End | E-Value | Type |
low complexity region
|
219 |
233 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159872
|
Predicted Effect |
probably null
Transcript: ENSMUST00000161604
|
SMART Domains |
Protein: ENSMUSP00000125441 Gene: ENSMUSG00000036948
Domain | Start | End | E-Value | Type |
low complexity region
|
219 |
233 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141454
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160157
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144460
|
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: 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: 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 null
Transcript: ENSMUST00000164203
|
SMART Domains |
Protein: ENSMUSP00000127440 Gene: ENSMUSG00000091964
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000163268
|
SMART Domains |
Protein: ENSMUSP00000127072 Gene: ENSMUSG00000091964
Domain | Start | End | E-Value | Type |
low complexity region
|
219 |
233 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167840
|
SMART Domains |
Protein: ENSMUSP00000132756 Gene: ENSMUSG00000091964
Domain | Start | End | E-Value | Type |
low complexity region
|
219 |
233 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000170479
AA Change: *396W
|
Predicted Effect |
probably null
Transcript: ENSMUST00000171557
|
SMART Domains |
Protein: ENSMUSP00000128031 Gene: ENSMUSG00000091964
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 |
noncoding transcript
Transcript: ENSMUST00000162557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162632
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
Validation Efficiency |
98% (63/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn2l |
A |
G |
7: 126,097,446 (GRCm39) |
F201L |
probably damaging |
Het |
Camsap3 |
T |
A |
8: 3,654,288 (GRCm39) |
F653I |
probably damaging |
Het |
Cemip2 |
A |
G |
19: 21,789,584 (GRCm39) |
T595A |
probably damaging |
Het |
Col11a2 |
C |
T |
17: 34,281,853 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
A |
G |
4: 63,143,637 (GRCm39) |
T442A |
probably benign |
Het |
Cpsf1 |
A |
G |
15: 76,484,880 (GRCm39) |
|
probably null |
Het |
Enpp4 |
T |
C |
17: 44,413,066 (GRCm39) |
N156S |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,874,162 (GRCm39) |
N3485I |
probably damaging |
Het |
Gabra2 |
C |
T |
5: 71,130,779 (GRCm39) |
V350I |
probably benign |
Het |
H2-T5 |
G |
T |
17: 36,473,084 (GRCm39) |
|
probably benign |
Het |
Hivep2 |
A |
G |
10: 14,004,493 (GRCm39) |
T364A |
probably damaging |
Het |
Kif1b |
A |
T |
4: 149,266,384 (GRCm39) |
V402E |
probably damaging |
Het |
Lamc3 |
A |
G |
2: 31,812,440 (GRCm39) |
D959G |
probably benign |
Het |
Mag |
T |
A |
7: 30,607,779 (GRCm39) |
|
probably benign |
Het |
Map3k1 |
A |
G |
13: 111,892,238 (GRCm39) |
F1006L |
probably benign |
Het |
Mapre2 |
G |
A |
18: 23,986,750 (GRCm39) |
G54D |
probably damaging |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Myadm |
C |
T |
7: 3,346,080 (GRCm39) |
Q281* |
probably null |
Het |
Mylk3 |
A |
T |
8: 86,053,832 (GRCm39) |
V625D |
possibly damaging |
Het |
Nlrp9a |
T |
C |
7: 26,273,213 (GRCm39) |
|
probably benign |
Het |
Or8d6 |
A |
G |
9: 39,854,252 (GRCm39) |
D232G |
probably benign |
Het |
Plcz1 |
T |
A |
6: 139,986,290 (GRCm39) |
|
probably benign |
Het |
Plekhg5 |
TCCCCC |
TCC |
4: 152,197,108 (GRCm39) |
|
probably benign |
Het |
Plekhh2 |
A |
C |
17: 84,893,861 (GRCm39) |
D892A |
probably benign |
Het |
Ppih |
A |
G |
4: 119,175,798 (GRCm39) |
|
probably benign |
Het |
Pramel13 |
G |
T |
4: 144,122,423 (GRCm39) |
F40L |
probably damaging |
Het |
Rtn4ip1 |
A |
T |
10: 43,808,474 (GRCm39) |
M84L |
probably benign |
Het |
Slc35f4 |
G |
A |
14: 49,559,943 (GRCm39) |
|
probably benign |
Het |
Spocd1 |
G |
T |
4: 129,850,571 (GRCm39) |
D866Y |
possibly damaging |
Het |
Stxbp4 |
C |
T |
11: 90,439,743 (GRCm39) |
R365Q |
possibly damaging |
Het |
Tmed4 |
C |
T |
11: 6,221,781 (GRCm39) |
R185H |
probably damaging |
Het |
Tnfsf9 |
T |
C |
17: 57,414,236 (GRCm39) |
V221A |
possibly damaging |
Het |
Vsx2 |
C |
A |
12: 84,617,015 (GRCm39) |
P100Q |
possibly damaging |
Het |
Wdr48 |
T |
A |
9: 119,738,500 (GRCm39) |
D53E |
probably benign |
Het |
Zfp335 |
T |
A |
2: 164,751,222 (GRCm39) |
S115C |
possibly damaging |
Het |
Zfp608 |
G |
A |
18: 55,028,592 (GRCm39) |
P1274S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTGTCCACCAGCAGCACAGAG -3'
(R):5'- AGTCAGAGATCAAGGCTACCTGCG -3'
Sequencing Primer
(F):5'- CCATCAGGCATGACAGGTAG -3'
(R):5'- GCTACAGACTCGATCTCCTGG -3'
|
Posted On |
2014-05-28 |