Incidental Mutation 'IGL03002:Tgoln1'
ID |
407373 |
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: 0.130)
|
Stock # |
IGL03002
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
72585415-72593983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72593055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 142
(S142P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070524]
|
AlphaFold |
Q62313 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070524
AA Change: S142P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000068487 Gene: ENSMUSG00000056429 AA Change: S142P
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadl |
T |
C |
1: 66,876,128 (GRCm39) |
I398V |
probably benign |
Het |
Adcy4 |
A |
T |
14: 56,011,013 (GRCm39) |
C635S |
probably benign |
Het |
Aoc1l3 |
A |
G |
6: 48,964,052 (GRCm39) |
H20R |
probably benign |
Het |
Asic4 |
C |
A |
1: 75,427,967 (GRCm39) |
D164E |
possibly damaging |
Het |
C8g |
T |
A |
2: 25,388,823 (GRCm39) |
*203L |
probably null |
Het |
Cad |
T |
C |
5: 31,212,330 (GRCm39) |
V11A |
probably benign |
Het |
Cckar |
T |
C |
5: 53,860,247 (GRCm39) |
N194S |
probably damaging |
Het |
Cdc123 |
T |
C |
2: 5,803,166 (GRCm39) |
|
probably benign |
Het |
Chrm5 |
T |
C |
2: 112,310,706 (GRCm39) |
T137A |
probably damaging |
Het |
Cyp1a1 |
A |
G |
9: 57,609,724 (GRCm39) |
|
probably benign |
Het |
Dapk3 |
G |
T |
10: 81,026,437 (GRCm39) |
E187* |
probably null |
Het |
Dmtf1 |
T |
C |
5: 9,190,474 (GRCm39) |
E80G |
probably damaging |
Het |
Dusp19 |
T |
A |
2: 80,461,279 (GRCm39) |
N189K |
probably damaging |
Het |
Gfral |
A |
G |
9: 76,104,520 (GRCm39) |
V164A |
possibly damaging |
Het |
Hk1 |
A |
T |
10: 62,107,578 (GRCm39) |
V799E |
probably damaging |
Het |
Iars2 |
C |
T |
1: 185,055,013 (GRCm39) |
|
probably null |
Het |
Jcad |
T |
A |
18: 4,675,153 (GRCm39) |
Y972N |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,425,505 (GRCm39) |
D708E |
probably damaging |
Het |
Mbtd1 |
T |
A |
11: 93,815,316 (GRCm39) |
H301Q |
probably benign |
Het |
Med12 |
A |
G |
X: 100,339,461 (GRCm39) |
T2004A |
probably benign |
Het |
Mib1 |
T |
C |
18: 10,798,356 (GRCm39) |
I739T |
possibly damaging |
Het |
Mthfsd |
C |
T |
8: 121,835,018 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
T |
G |
2: 90,954,234 (GRCm39) |
F369C |
probably damaging |
Het |
Nfatc2 |
C |
T |
2: 168,376,904 (GRCm39) |
V329M |
probably damaging |
Het |
Ngef |
A |
T |
1: 87,437,114 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
T |
C |
11: 71,059,685 (GRCm39) |
E759G |
probably benign |
Het |
Or10aa3 |
C |
A |
1: 173,878,191 (GRCm39) |
T84N |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,729,016 (GRCm39) |
E790G |
probably benign |
Het |
Psmd12 |
A |
G |
11: 107,376,607 (GRCm39) |
D81G |
probably benign |
Het |
Rnf144b |
A |
G |
13: 47,396,359 (GRCm39) |
H232R |
probably damaging |
Het |
Sec63 |
C |
T |
10: 42,686,905 (GRCm39) |
T475M |
possibly damaging |
Het |
Slc16a4 |
A |
T |
3: 107,208,102 (GRCm39) |
N204I |
probably benign |
Het |
Socs1 |
T |
C |
16: 10,602,404 (GRCm39) |
N111S |
probably damaging |
Het |
Srpra |
A |
G |
9: 35,126,017 (GRCm39) |
N432D |
probably damaging |
Het |
Srrm2 |
A |
G |
17: 24,034,708 (GRCm39) |
|
probably benign |
Het |
Trbv13-1 |
A |
G |
6: 41,093,169 (GRCm39) |
N34S |
probably benign |
Het |
Vmn2r26 |
T |
C |
6: 124,016,754 (GRCm39) |
V406A |
possibly damaging |
Het |
Vsig1 |
G |
T |
X: 139,827,088 (GRCm39) |
G79V |
probably damaging |
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 |
IGL03136:Tgoln1
|
APN |
6 |
72,591,096 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |