Incidental Mutation 'R1579:Trappc14'
ID |
171278 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trappc14
|
Ensembl Gene |
ENSMUSG00000036948 |
Gene Name |
trafficking protein particle complex 14 |
Synonyms |
Map11, BC037034 |
MMRRC Submission |
039616-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R1579 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
138257918-138262295 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 138260128 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 338
(I338V)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048421]
[ENSMUST00000062067]
[ENSMUST00000100530]
[ENSMUST00000159649]
[ENSMUST00000161647]
[ENSMUST00000161279]
[ENSMUST00000159146]
[ENSMUST00000159123]
[ENSMUST00000159067]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048421
AA Change: I338V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000046898 Gene: ENSMUSG00000036948 AA Change: I338V
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: ENSMUST00000159649
AA Change: I69V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125208 Gene: ENSMUSG00000036948 AA Change: I69V
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: ENSMUST00000162557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160157
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159534
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144460
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159872
|
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: 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 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: ENSMUST00000164203
AA Change: I338V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127440 Gene: ENSMUSG00000091964 AA Change: I338V
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 |
noncoding transcript
Transcript: ENSMUST00000162632
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700037C18Rik |
T |
C |
16: 3,724,039 (GRCm39) |
R162G |
probably benign |
Het |
Adamtsl4 |
T |
A |
3: 95,592,807 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,711,898 (GRCm39) |
L306H |
probably damaging |
Het |
Aknad1 |
T |
A |
3: 108,659,452 (GRCm39) |
Y155* |
probably null |
Het |
Aldh6a1 |
C |
T |
12: 84,488,622 (GRCm39) |
R88H |
possibly damaging |
Het |
Apc2 |
G |
C |
10: 80,147,179 (GRCm39) |
K715N |
probably damaging |
Het |
Arhgap45 |
G |
A |
10: 79,864,811 (GRCm39) |
V798M |
probably damaging |
Het |
Calcrl |
T |
C |
2: 84,163,881 (GRCm39) |
T437A |
probably benign |
Het |
Cdan1 |
A |
G |
2: 120,561,220 (GRCm39) |
F183L |
probably damaging |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Cntnap4 |
A |
G |
8: 113,608,462 (GRCm39) |
E1294G |
possibly damaging |
Het |
Crybg3 |
C |
A |
16: 59,350,561 (GRCm39) |
G2607V |
probably damaging |
Het |
Dhx29 |
G |
T |
13: 113,072,132 (GRCm39) |
|
probably null |
Het |
Dmrtb1 |
T |
A |
4: 107,541,322 (GRCm39) |
H13L |
probably damaging |
Het |
Echdc2 |
A |
G |
4: 108,031,006 (GRCm39) |
M162V |
probably benign |
Het |
Entpd8 |
A |
G |
2: 24,974,986 (GRCm39) |
D439G |
possibly damaging |
Het |
Fastkd2 |
C |
G |
1: 63,785,046 (GRCm39) |
H477Q |
probably null |
Het |
Fbrs |
A |
G |
7: 127,084,529 (GRCm39) |
E517G |
probably damaging |
Het |
Gchfr |
A |
G |
2: 119,002,502 (GRCm39) |
T71A |
possibly damaging |
Het |
Hecw1 |
A |
T |
13: 14,552,492 (GRCm39) |
C35S |
probably damaging |
Het |
Izumo1r |
C |
T |
9: 14,813,098 (GRCm39) |
R58H |
probably benign |
Het |
Kif13a |
T |
C |
13: 46,906,332 (GRCm39) |
E537G |
possibly damaging |
Het |
Kif13b |
G |
A |
14: 65,019,790 (GRCm39) |
|
probably null |
Het |
Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
Lnpk |
A |
T |
2: 74,378,340 (GRCm39) |
D140E |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,559,362 (GRCm39) |
M284V |
probably benign |
Het |
Me3 |
A |
T |
7: 89,495,050 (GRCm39) |
T323S |
possibly damaging |
Het |
Mtus1 |
A |
G |
8: 41,535,895 (GRCm39) |
V607A |
probably damaging |
Het |
Myh14 |
A |
T |
7: 44,305,118 (GRCm39) |
|
probably null |
Het |
Myo1h |
T |
A |
5: 114,485,496 (GRCm39) |
C545* |
probably null |
Het |
Nbn |
T |
A |
4: 15,964,289 (GRCm39) |
D121E |
probably damaging |
Het |
Nox4 |
A |
G |
7: 87,019,231 (GRCm39) |
Y408C |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Or10q1b |
A |
G |
19: 13,682,566 (GRCm39) |
D125G |
probably damaging |
Het |
Or52d3 |
T |
A |
7: 104,229,268 (GRCm39) |
Y138* |
probably null |
Het |
Or5w20 |
G |
A |
2: 87,727,286 (GRCm39) |
A248T |
probably benign |
Het |
Osbpl5 |
T |
C |
7: 143,262,939 (GRCm39) |
T150A |
possibly damaging |
Het |
Pgap3 |
C |
A |
11: 98,280,879 (GRCm39) |
M265I |
probably benign |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Pkd2l2 |
A |
T |
18: 34,560,446 (GRCm39) |
N351I |
possibly damaging |
Het |
Prkdc |
T |
A |
16: 15,493,192 (GRCm39) |
Y700N |
probably benign |
Het |
Pzp |
A |
G |
6: 128,500,931 (GRCm39) |
|
probably null |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rptor |
A |
T |
11: 119,786,827 (GRCm39) |
Q1264L |
probably benign |
Het |
Scnn1a |
T |
C |
6: 125,299,103 (GRCm39) |
F61S |
probably damaging |
Het |
Tenm2 |
C |
A |
11: 35,997,610 (GRCm39) |
W825C |
probably damaging |
Het |
Tex264 |
A |
T |
9: 106,559,116 (GRCm39) |
I70N |
possibly damaging |
Het |
Tns2 |
G |
T |
15: 102,019,645 (GRCm39) |
D504Y |
probably damaging |
Het |
Trpc2 |
T |
A |
7: 101,733,447 (GRCm39) |
F132Y |
probably damaging |
Het |
Trpm4 |
A |
G |
7: 44,958,021 (GRCm39) |
F816S |
probably damaging |
Het |
Uqcc1 |
G |
A |
2: 155,763,641 (GRCm39) |
Q5* |
probably null |
Het |
Usp36 |
G |
T |
11: 118,175,771 (GRCm39) |
T130N |
probably damaging |
Het |
Vav1 |
A |
G |
17: 57,604,252 (GRCm39) |
M165V |
probably benign |
Het |
Vmn1r64 |
A |
T |
7: 5,886,803 (GRCm39) |
F247I |
probably damaging |
Het |
Vmn2r26 |
G |
C |
6: 124,016,706 (GRCm39) |
R390P |
probably benign |
Het |
Vmn2r57 |
G |
T |
7: 41,049,548 (GRCm39) |
H734N |
probably benign |
Het |
Wfdc16 |
G |
T |
2: 164,477,843 (GRCm39) |
H69N |
possibly damaging |
Het |
Zfp316 |
C |
T |
5: 143,239,317 (GRCm39) |
E901K |
probably damaging |
Het |
Zfp334 |
T |
C |
2: 165,223,719 (GRCm39) |
E108G |
probably damaging |
Het |
Zfp407 |
T |
C |
18: 84,227,763 (GRCm39) |
S1949G |
probably benign |
Het |
Zfp408 |
A |
G |
2: 91,476,473 (GRCm39) |
L227P |
probably benign |
Het |
Zfp560 |
T |
C |
9: 20,259,287 (GRCm39) |
H525R |
possibly damaging |
Het |
Zfp609 |
G |
A |
9: 65,611,754 (GRCm39) |
A403V |
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 |
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'- TGAAACGCTCGTAGGTCCGAAC -3'
(R):5'- CTTAGTGCCCTGGAGGAACACAAC -3'
Sequencing Primer
(F):5'- TAGGTCCGAACAGGGGACTC -3'
(R):5'- tgtgggaactgttgggttg -3'
|
Posted On |
2014-04-13 |