Incidental Mutation 'IGL03136:Tgoln1'
| ID |
410535 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tgoln1
|
| Ensembl Gene |
ENSMUSG00000056429 |
| Gene Name |
trans-golgi network protein |
| Synonyms |
TGN38A, Ttgn1, D6Ertd384e, TGN38 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
IGL03136
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
72585415-72593983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72591096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 339
(R339W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070524]
|
| AlphaFold |
Q62313 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070524
AA Change: R339W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000068487
Gene: ENSMUSG00000056429
AA Change: R339W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
260 |
N/A |
INTRINSIC |
|
transmembrane domain
|
300 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172588
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
A |
G |
11: 25,719,122 (GRCm39) |
L7S |
unknown |
Het |
| Abr |
C |
T |
11: 76,316,121 (GRCm39) |
W571* |
probably null |
Het |
| Adam18 |
A |
T |
8: 25,131,852 (GRCm39) |
C420S |
probably damaging |
Het |
| Akap5 |
G |
T |
12: 76,376,649 (GRCm39) |
E694* |
probably null |
Het |
| Bbs1 |
T |
C |
19: 4,941,019 (GRCm39) |
K565R |
probably benign |
Het |
| Brix1 |
A |
G |
15: 10,478,852 (GRCm39) |
F189S |
probably damaging |
Het |
| Cnot4 |
C |
A |
6: 35,028,176 (GRCm39) |
R480L |
probably damaging |
Het |
| Ctu2 |
A |
G |
8: 123,205,940 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
A |
G |
7: 143,401,103 (GRCm39) |
H422R |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,770,118 (GRCm39) |
M1793V |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,892,028 (GRCm39) |
F853L |
probably damaging |
Het |
| Fkbp15 |
G |
A |
4: 62,258,466 (GRCm39) |
|
probably benign |
Het |
| Ftsj3 |
C |
T |
11: 106,144,639 (GRCm39) |
D117N |
probably damaging |
Het |
| Gphn |
A |
G |
12: 78,528,107 (GRCm39) |
I142V |
possibly damaging |
Het |
| Hsd3b1 |
G |
A |
3: 98,760,301 (GRCm39) |
A230V |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,145,156 (GRCm39) |
A836T |
probably benign |
Het |
| Ift52 |
G |
T |
2: 162,867,254 (GRCm39) |
E71* |
probably null |
Het |
| Ms4a14 |
T |
C |
19: 11,281,775 (GRCm39) |
D261G |
possibly damaging |
Het |
| Nid1 |
G |
A |
13: 13,675,084 (GRCm39) |
V935I |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,330,687 (GRCm39) |
K1008E |
possibly damaging |
Het |
| Nup210 |
A |
C |
6: 91,005,843 (GRCm39) |
V1340G |
probably benign |
Het |
| Or2aj4 |
A |
T |
16: 19,385,103 (GRCm39) |
F177I |
probably damaging |
Het |
| Or5b94 |
T |
A |
19: 12,652,331 (GRCm39) |
I254N |
probably damaging |
Het |
| Or8d6 |
T |
C |
9: 39,854,332 (GRCm39) |
Y259H |
probably damaging |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
| Pdcd6ip |
T |
A |
9: 113,520,567 (GRCm39) |
N139I |
probably damaging |
Het |
| Pgbd1 |
A |
G |
13: 21,617,609 (GRCm39) |
V80A |
possibly damaging |
Het |
| Pigw |
A |
G |
11: 84,768,603 (GRCm39) |
I242T |
probably benign |
Het |
| Prtg |
T |
G |
9: 72,764,267 (GRCm39) |
V580G |
possibly damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,691,329 (GRCm39) |
N1065K |
possibly damaging |
Het |
| Qrich1 |
G |
A |
9: 108,422,117 (GRCm39) |
R577H |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,506,319 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
C |
5: 30,462,725 (GRCm39) |
Y197H |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,201,591 (GRCm39) |
C343R |
probably benign |
Het |
| Smurf2 |
A |
T |
11: 106,721,874 (GRCm39) |
D527E |
probably benign |
Het |
| Spam1 |
C |
T |
6: 24,797,010 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
T |
C |
2: 26,841,435 (GRCm39) |
V460A |
probably benign |
Het |
| Tprg1 |
T |
C |
16: 25,231,512 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
T |
G |
17: 48,671,879 (GRCm39) |
|
probably benign |
Het |
| Ttc39b |
A |
T |
4: 83,155,517 (GRCm39) |
V497E |
probably damaging |
Het |
| Vmn1r223 |
A |
G |
13: 23,433,933 (GRCm39) |
T176A |
possibly damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,797,911 (GRCm39) |
I634N |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,857,592 (GRCm39) |
E2608G |
probably damaging |
Het |
| Zfp575 |
A |
G |
7: 24,285,381 (GRCm39) |
C87R |
probably damaging |
Het |
| Zfp790 |
T |
A |
7: 29,529,320 (GRCm39) |
Y668* |
probably null |
Het |
|
| Other mutations in Tgoln1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00480:Tgoln1
|
APN |
6 |
72,593,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00795:Tgoln1
|
APN |
6 |
72,593,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03002:Tgoln1
|
APN |
6 |
72,593,055 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
FR4340:Tgoln1
|
UTSW |
6 |
72,593,334 (GRCm39) |
small insertion |
probably benign |
|
|
R0684:Tgoln1
|
UTSW |
6 |
72,592,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1656:Tgoln1
|
UTSW |
6 |
72,591,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1920:Tgoln1
|
UTSW |
6 |
72,593,084 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2057:Tgoln1
|
UTSW |
6 |
72,592,653 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4097:Tgoln1
|
UTSW |
6 |
72,592,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4559:Tgoln1
|
UTSW |
6 |
72,592,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4995:Tgoln1
|
UTSW |
6 |
72,593,123 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5566:Tgoln1
|
UTSW |
6 |
72,593,018 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6224:Tgoln1
|
UTSW |
6 |
72,592,984 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6814:Tgoln1
|
UTSW |
6 |
72,592,538 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6872:Tgoln1
|
UTSW |
6 |
72,592,538 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7178:Tgoln1
|
UTSW |
6 |
72,593,028 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7339:Tgoln1
|
UTSW |
6 |
72,593,261 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7342:Tgoln1
|
UTSW |
6 |
72,593,261 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7347:Tgoln1
|
UTSW |
6 |
72,593,261 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7348:Tgoln1
|
UTSW |
6 |
72,593,261 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7366:Tgoln1
|
UTSW |
6 |
72,593,261 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7368:Tgoln1
|
UTSW |
6 |
72,593,261 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7491:Tgoln1
|
UTSW |
6 |
72,593,403 (GRCm39) |
missense |
unknown |
|
|
R8277:Tgoln1
|
UTSW |
6 |
72,593,838 (GRCm39) |
start gained |
probably benign |
|
|
R8979:Tgoln1
|
UTSW |
6 |
72,593,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9566:Tgoln1
|
UTSW |
6 |
72,592,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF003:Tgoln1
|
UTSW |
6 |
72,593,335 (GRCm39) |
nonsense |
probably null |
|
|
RF023:Tgoln1
|
UTSW |
6 |
72,593,063 (GRCm39) |
small insertion |
probably benign |
|
|
RF028:Tgoln1
|
UTSW |
6 |
72,593,019 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Tgoln1
|
UTSW |
6 |
72,593,046 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Tgoln1
|
UTSW |
6 |
72,593,019 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Tgoln1
|
UTSW |
6 |
72,593,057 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Tgoln1
|
UTSW |
6 |
72,593,046 (GRCm39) |
small insertion |
probably benign |
|
|
RF037:Tgoln1
|
UTSW |
6 |
72,593,019 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Tgoln1
|
UTSW |
6 |
72,593,057 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Tgoln1
|
UTSW |
6 |
72,593,057 (GRCm39) |
small insertion |
probably benign |
|
|
RF043:Tgoln1
|
UTSW |
6 |
72,593,046 (GRCm39) |
small insertion |
probably benign |
|
|
RF043:Tgoln1
|
UTSW |
6 |
72,593,019 (GRCm39) |
small insertion |
probably benign |
|
|
RF057:Tgoln1
|
UTSW |
6 |
72,593,052 (GRCm39) |
small insertion |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation