Incidental Mutation 'R4711:Trappc14'
| ID |
353264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc14
|
| Ensembl Gene |
ENSMUSG00000036948 |
| Gene Name |
trafficking protein particle complex 14 |
| Synonyms |
Map11, BC037034 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R4711 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
138257918-138262295 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 138261167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048421]
[ENSMUST00000062067]
[ENSMUST00000100530]
[ENSMUST00000159649]
[ENSMUST00000161647]
[ENSMUST00000159123]
[ENSMUST00000159067]
[ENSMUST00000161279]
[ENSMUST00000159146]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
silent
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 |
noncoding transcript
Transcript: ENSMUST00000141454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170479
AA Change: T347A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159534
|
| Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000162557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160157
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144460
|
| 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: 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: 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg14 |
G |
A |
14: 47,783,298 (GRCm39) |
R346C |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,366,288 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
A |
G |
6: 61,288,910 (GRCm39) |
N358D |
possibly damaging |
Het |
| Col20a1 |
G |
C |
2: 180,634,284 (GRCm39) |
G83A |
probably damaging |
Het |
| Copa |
T |
G |
1: 171,947,555 (GRCm39) |
F1124V |
probably damaging |
Het |
| Cyp2c66 |
G |
A |
19: 39,151,843 (GRCm39) |
R186H |
possibly damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,358,208 (GRCm39) |
T323M |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,618 (GRCm39) |
I664V |
possibly damaging |
Het |
| Erp29 |
A |
G |
5: 121,583,293 (GRCm39) |
I211T |
possibly damaging |
Het |
| Exd1 |
A |
G |
2: 119,369,232 (GRCm39) |
S128P |
possibly damaging |
Het |
| Grik4 |
T |
A |
9: 42,540,389 (GRCm39) |
N264Y |
probably damaging |
Het |
| Gsdma2 |
T |
A |
11: 98,540,439 (GRCm39) |
S119R |
probably damaging |
Het |
| H2ac1 |
C |
T |
13: 24,118,796 (GRCm39) |
P118S |
possibly damaging |
Het |
| Ift140 |
T |
A |
17: 25,313,691 (GRCm39) |
|
probably null |
Het |
| Ino80c |
T |
C |
18: 24,247,222 (GRCm39) |
N59S |
probably benign |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Mast4 |
A |
G |
13: 103,470,627 (GRCm39) |
V25A |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,012,336 (GRCm39) |
T193A |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,399,770 (GRCm39) |
F414L |
unknown |
Het |
| Nat10 |
A |
T |
2: 103,578,612 (GRCm39) |
C197* |
probably null |
Het |
| Nt5c1b |
A |
G |
12: 10,420,093 (GRCm39) |
K11E |
probably damaging |
Het |
| Or5k8 |
A |
T |
16: 58,645,069 (GRCm39) |
M1K |
probably null |
Het |
| Or8i2 |
T |
C |
2: 86,852,370 (GRCm39) |
I173V |
probably damaging |
Het |
| Pak5 |
A |
G |
2: 135,929,437 (GRCm39) |
I582T |
probably damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,153,976 (GRCm39) |
I232V |
probably benign |
Het |
| Pde8b |
T |
A |
13: 95,166,958 (GRCm39) |
T664S |
probably benign |
Het |
| Pdik1l |
G |
C |
4: 134,006,301 (GRCm39) |
R214G |
probably benign |
Het |
| Prss37 |
C |
T |
6: 40,492,381 (GRCm39) |
V157M |
probably benign |
Het |
| Psma5-ps |
A |
G |
10: 85,149,667 (GRCm39) |
|
noncoding transcript |
Het |
| Ring1 |
T |
C |
17: 34,241,333 (GRCm39) |
E261G |
possibly damaging |
Het |
| Sf3a3 |
C |
A |
4: 124,621,974 (GRCm39) |
D371E |
probably benign |
Het |
| Spag9 |
T |
A |
11: 94,005,177 (GRCm39) |
|
probably null |
Het |
| Spred1 |
T |
A |
2: 117,005,866 (GRCm39) |
S209R |
probably benign |
Het |
| Tas2r121 |
T |
C |
6: 132,677,853 (GRCm39) |
T40A |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,242,537 (GRCm39) |
T187A |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 36,191,039 (GRCm39) |
V311I |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,527 (GRCm39) |
V683A |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,301 (GRCm39) |
D697G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,660,404 (GRCm39) |
A7439V |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,626,795 (GRCm39) |
I838T |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,861,536 (GRCm39) |
T183A |
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 |
|
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'- GCATTTCAGAACTGGAGGGG -3'
(R):5'- TTCACTGGATAGACTGCCCC -3'
Sequencing Primer
(F):5'- CAGCAGCGTCAATAGGGTG -3'
(R):5'- TCGTGATCATGGTCCGAT -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation