Incidental Mutation 'R6599:Trappc14'
ID |
525111 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trappc14
|
Ensembl Gene |
ENSMUSG00000036948 |
Gene Name |
trafficking protein particle complex 14 |
Synonyms |
Map11, BC037034 |
MMRRC Submission |
044723-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R6599 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
138257918-138262295 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 138261720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125208
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048421]
[ENSMUST00000062067]
[ENSMUST00000100530]
[ENSMUST00000159123]
[ENSMUST00000161279]
[ENSMUST00000159649]
[ENSMUST00000159067]
[ENSMUST00000161647]
[ENSMUST00000159146]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048421
AA Change: H125Q
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000046898 Gene: ENSMUSG00000036948 AA Change: H125Q
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
AA Change: H125Q
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000137679 Gene: ENSMUSG00000036948 AA Change: H125Q
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: ENSMUST00000144460
|
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: 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 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: ENSMUST00000159534
|
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 |
noncoding transcript
Transcript: ENSMUST00000141454
|
Predicted Effect |
probably null
Transcript: ENSMUST00000159146
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160157
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162632
|
Meta Mutation Damage Score |
0.1121 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
Validation Efficiency |
94% (32/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
T |
C |
3: 137,882,250 (GRCm39) |
H150R |
probably benign |
Het |
Acbd5 |
C |
T |
2: 22,959,092 (GRCm39) |
|
probably benign |
Het |
Adcyap1r1 |
G |
A |
6: 55,456,979 (GRCm39) |
V237M |
probably damaging |
Het |
Akr1c6 |
T |
G |
13: 4,499,318 (GRCm39) |
|
probably null |
Het |
Ccdc7b |
T |
A |
8: 129,893,462 (GRCm39) |
F96L |
probably benign |
Het |
Cubn |
T |
C |
2: 13,315,484 (GRCm39) |
H2983R |
possibly damaging |
Het |
Dhx40 |
T |
A |
11: 86,695,175 (GRCm39) |
I112L |
possibly damaging |
Het |
Dnmbp |
A |
T |
19: 43,845,025 (GRCm39) |
D1070E |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Ep300 |
G |
C |
15: 81,470,914 (GRCm39) |
D29H |
unknown |
Het |
Exoc3 |
T |
C |
13: 74,337,277 (GRCm39) |
|
probably null |
Het |
Fcsk |
A |
T |
8: 111,619,915 (GRCm39) |
|
probably null |
Het |
Gm6401 |
C |
A |
14: 41,788,821 (GRCm39) |
E83* |
probably null |
Het |
Gm8267 |
G |
T |
14: 44,955,367 (GRCm39) |
T218K |
possibly damaging |
Het |
H1f3 |
T |
C |
13: 23,739,451 (GRCm39) |
|
probably null |
Het |
Hif3a |
T |
A |
7: 16,776,530 (GRCm39) |
D470V |
possibly damaging |
Het |
Igf2r |
T |
C |
17: 12,917,505 (GRCm39) |
S1526G |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,299,749 (GRCm39) |
D3101G |
probably damaging |
Het |
Megf6 |
A |
G |
4: 154,342,544 (GRCm39) |
|
probably null |
Het |
Mthfs |
G |
A |
9: 89,121,961 (GRCm39) |
G149D |
probably damaging |
Het |
Nnmt |
T |
C |
9: 48,514,669 (GRCm39) |
D116G |
probably benign |
Het |
Nqo2 |
T |
C |
13: 34,163,539 (GRCm39) |
F22S |
probably damaging |
Het |
Or1e29 |
T |
A |
11: 73,667,506 (GRCm39) |
M216L |
probably benign |
Het |
Or7e175 |
T |
C |
9: 20,049,239 (GRCm39) |
S276P |
probably damaging |
Het |
Parm1 |
T |
C |
5: 91,741,718 (GRCm39) |
S29P |
possibly damaging |
Het |
Prokr2 |
C |
T |
2: 132,215,469 (GRCm39) |
V331M |
possibly damaging |
Het |
Ptch1 |
T |
A |
13: 63,670,918 (GRCm39) |
I871F |
probably damaging |
Het |
Rps6ka5 |
C |
A |
12: 100,564,168 (GRCm39) |
G227V |
probably damaging |
Het |
Tcaim |
C |
T |
9: 122,663,844 (GRCm39) |
Q445* |
probably null |
Het |
Trpc7 |
T |
C |
13: 56,958,193 (GRCm39) |
|
probably null |
Het |
Ubxn7 |
A |
G |
16: 32,203,743 (GRCm39) |
E465G |
probably damaging |
Het |
Unk |
G |
A |
11: 115,938,628 (GRCm39) |
R77Q |
probably damaging |
Het |
Vmn1r226 |
A |
T |
17: 20,908,551 (GRCm39) |
N261I |
probably benign |
Het |
Vmn1r87 |
T |
A |
7: 12,865,886 (GRCm39) |
K134* |
probably null |
Het |
Vmn2r10 |
T |
A |
5: 109,143,944 (GRCm39) |
I669L |
probably benign |
Het |
Vmn2r115 |
A |
G |
17: 23,565,006 (GRCm39) |
I298V |
probably benign |
Het |
Yipf2 |
T |
C |
9: 21,501,144 (GRCm39) |
K85E |
probably damaging |
Het |
Zfp979 |
A |
T |
4: 147,698,083 (GRCm39) |
C209S |
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 |
|
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 |
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'- GAAATCATATGCCTCCCGTCTTAGG -3'
(R):5'- AGACAGTCCGCTTTCTGCTG -3'
Sequencing Primer
(F):5'- CGTCTTAGGTTCCTCTGCAGG -3'
(R):5'- CCGCTTTCTGCTGGTGCTG -3'
|
Posted On |
2018-06-22 |