Incidental Mutation 'R5221:Trappc14'
ID |
402311 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trappc14
|
Ensembl Gene |
ENSMUSG00000036948 |
Gene Name |
trafficking protein particle complex 14 |
Synonyms |
Map11, BC037034 |
MMRRC Submission |
042794-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R5221 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
138257918-138262295 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 138260502 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 308
(S308N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048421]
[ENSMUST00000062067]
[ENSMUST00000100530]
[ENSMUST00000159649]
[ENSMUST00000161279]
[ENSMUST00000159123]
[ENSMUST00000161647]
[ENSMUST00000159146]
[ENSMUST00000159067]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048421
AA Change: S308N
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000046898 Gene: ENSMUSG00000036948 AA Change: S308N
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: S39N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000125208 Gene: ENSMUSG00000036948 AA Change: S39N
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: ENSMUST00000159872
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144460
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159534
|
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: 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: 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: ENSMUST00000159146
|
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: ENSMUST00000163268
AA Change: S39N
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000127072 Gene: ENSMUSG00000091964 AA Change: S39N
Domain | Start | End | E-Value | Type |
low complexity region
|
219 |
233 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162632
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (53/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adrm1b |
T |
C |
3: 92,335,815 (GRCm39) |
I296V |
probably benign |
Het |
Antkmt |
T |
C |
17: 26,010,613 (GRCm39) |
N67S |
possibly damaging |
Het |
Arhgap26 |
T |
A |
18: 39,243,525 (GRCm39) |
Y134* |
probably null |
Het |
Asap2 |
A |
G |
12: 21,263,191 (GRCm39) |
I269V |
probably benign |
Het |
Bean1 |
A |
T |
8: 104,941,784 (GRCm39) |
D34V |
probably damaging |
Het |
C8a |
C |
T |
4: 104,703,122 (GRCm39) |
V312M |
probably damaging |
Het |
Ccser1 |
T |
C |
6: 61,289,075 (GRCm39) |
S413P |
probably damaging |
Het |
Col4a2 |
A |
G |
8: 11,498,225 (GRCm39) |
N1678S |
probably benign |
Het |
Coq2 |
G |
A |
5: 100,805,698 (GRCm39) |
H313Y |
possibly damaging |
Het |
Dsg1a |
T |
A |
18: 20,457,071 (GRCm39) |
M148K |
possibly damaging |
Het |
Farp2 |
T |
A |
1: 93,504,140 (GRCm39) |
C306S |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,493,032 (GRCm39) |
V1828A |
probably damaging |
Het |
Gm6457 |
T |
C |
18: 14,703,174 (GRCm39) |
|
noncoding transcript |
Het |
Gmip |
T |
G |
8: 70,266,785 (GRCm39) |
V300G |
probably damaging |
Het |
Gstp3 |
A |
G |
19: 4,107,607 (GRCm39) |
S186P |
probably damaging |
Het |
Gvin-ps3 |
G |
C |
7: 105,683,181 (GRCm39) |
|
noncoding transcript |
Het |
Kl |
G |
T |
5: 150,912,616 (GRCm39) |
L788F |
probably damaging |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Lrp1b |
A |
C |
2: 41,002,994 (GRCm39) |
S1932A |
possibly damaging |
Het |
Lrrc36 |
A |
G |
8: 106,170,488 (GRCm39) |
T234A |
probably damaging |
Het |
Mafa |
T |
A |
15: 75,618,891 (GRCm39) |
Q294L |
possibly damaging |
Het |
Mesp2 |
C |
T |
7: 79,461,467 (GRCm39) |
T264I |
possibly damaging |
Het |
Mindy4 |
A |
G |
6: 55,201,092 (GRCm39) |
Y259C |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2d3c |
A |
T |
7: 106,526,268 (GRCm39) |
S133T |
probably benign |
Het |
Or5as1 |
T |
C |
2: 86,980,825 (GRCm39) |
Y60C |
probably damaging |
Het |
Or5m13b |
A |
G |
2: 85,754,493 (GRCm39) |
N294D |
probably damaging |
Het |
Or8b48 |
A |
T |
9: 38,493,148 (GRCm39) |
T192S |
probably damaging |
Het |
Pcm1 |
T |
C |
8: 41,741,193 (GRCm39) |
|
probably null |
Het |
Plxna1 |
T |
C |
6: 89,297,998 (GRCm39) |
D1760G |
probably damaging |
Het |
Polq |
T |
A |
16: 36,862,540 (GRCm39) |
D345E |
probably damaging |
Het |
Ppp1r14a |
T |
A |
7: 28,988,926 (GRCm39) |
I56N |
probably damaging |
Het |
Ppp1r1a |
G |
A |
15: 103,441,477 (GRCm39) |
P79S |
probably damaging |
Het |
Ptprf |
C |
T |
4: 118,082,305 (GRCm39) |
R1010H |
probably benign |
Het |
Rai1 |
A |
G |
11: 60,081,423 (GRCm39) |
E1829G |
probably damaging |
Het |
Rmdn3 |
A |
G |
2: 118,986,935 (GRCm39) |
Y31H |
probably damaging |
Het |
Rrh |
T |
C |
3: 129,609,280 (GRCm39) |
S69G |
probably damaging |
Het |
Skint6 |
A |
T |
4: 112,752,121 (GRCm39) |
|
probably null |
Het |
Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
Sltm |
T |
G |
9: 70,486,685 (GRCm39) |
L450R |
probably damaging |
Het |
Sufu |
T |
C |
19: 46,439,404 (GRCm39) |
|
probably null |
Het |
Tmem68 |
T |
C |
4: 3,560,561 (GRCm39) |
T208A |
possibly damaging |
Het |
Tnc |
T |
A |
4: 63,911,534 (GRCm39) |
R1346* |
probably null |
Het |
Tpbg |
T |
C |
9: 85,726,478 (GRCm39) |
L149P |
probably damaging |
Het |
Ubtf |
G |
A |
11: 102,198,816 (GRCm39) |
Q585* |
probably null |
Het |
Vmn2r68 |
A |
T |
7: 84,871,085 (GRCm39) |
C733S |
probably damaging |
Het |
Vmn2r-ps158 |
T |
A |
7: 42,672,684 (GRCm39) |
H106Q |
probably benign |
Het |
Wscd1 |
G |
T |
11: 71,659,501 (GRCm39) |
G194W |
possibly damaging |
Het |
Zfp354b |
A |
C |
11: 50,813,917 (GRCm39) |
I336S |
probably benign |
Het |
Zfp462 |
T |
A |
4: 55,016,887 (GRCm39) |
V870E |
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 |
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'- GACTTGGGATGTTCAGAGGCTC -3'
(R):5'- CTGCTGGTGGACAATGTCTG -3'
Sequencing Primer
(F):5'- CTCATATAGCTGGGGATGACC -3'
(R):5'- GGACAATGTCTGGTGAGGTTC -3'
|
Posted On |
2016-07-22 |