Incidental Mutation 'R4559:Tgoln1'
ID |
342982 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tgoln1
|
Ensembl Gene |
ENSMUSG00000056429 |
Gene Name |
trans-golgi network protein |
Synonyms |
TGN38A, Ttgn1, D6Ertd384e, TGN38 |
MMRRC Submission |
041785-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
R4559 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
72585415-72593983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72592664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 272
(E272G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070524]
|
AlphaFold |
Q62313 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070524
AA Change: E272G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000068487 Gene: ENSMUSG00000056429 AA Change: E272G
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
|
Meta Mutation Damage Score |
0.2809 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017G19Rik |
A |
G |
3: 40,567,240 (GRCm39) |
|
noncoding transcript |
Het |
1700066M21Rik |
T |
C |
1: 57,422,083 (GRCm39) |
F153S |
possibly damaging |
Het |
Acss1 |
A |
G |
2: 150,480,405 (GRCm39) |
V222A |
probably benign |
Het |
Atad2b |
A |
G |
12: 4,993,223 (GRCm39) |
I247M |
probably benign |
Het |
Atxn10 |
A |
G |
15: 85,322,321 (GRCm39) |
I398V |
possibly damaging |
Het |
Cep192 |
T |
A |
18: 68,004,584 (GRCm39) |
C2312S |
probably damaging |
Het |
Cidea |
C |
T |
18: 67,493,298 (GRCm39) |
Q106* |
probably null |
Het |
Cnga4 |
A |
G |
7: 105,054,892 (GRCm39) |
T159A |
probably damaging |
Het |
Cyp2j12 |
G |
T |
4: 96,001,194 (GRCm39) |
S304R |
probably damaging |
Het |
Dennd2b |
A |
G |
7: 109,124,785 (GRCm39) |
F665L |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,603,978 (GRCm39) |
V815E |
probably damaging |
Het |
Entrep1 |
G |
A |
19: 24,007,913 (GRCm39) |
S130L |
probably damaging |
Het |
Farp1 |
T |
C |
14: 121,510,213 (GRCm39) |
M737T |
probably damaging |
Het |
Fbn1 |
T |
A |
2: 125,193,634 (GRCm39) |
D1395V |
possibly damaging |
Het |
Fbn2 |
C |
T |
18: 58,209,146 (GRCm39) |
M1076I |
probably benign |
Het |
Fitm2 |
T |
A |
2: 163,314,593 (GRCm39) |
|
probably benign |
Het |
Fras1 |
A |
G |
5: 96,929,148 (GRCm39) |
R3851G |
probably damaging |
Het |
Frem2 |
C |
T |
3: 53,561,742 (GRCm39) |
V922I |
probably benign |
Het |
Gm10719 |
A |
T |
9: 3,018,945 (GRCm39) |
T200S |
probably benign |
Het |
Grin3a |
T |
C |
4: 49,844,555 (GRCm39) |
D176G |
probably damaging |
Het |
Hdac5 |
T |
C |
11: 102,089,928 (GRCm39) |
|
probably benign |
Het |
Ift140 |
C |
A |
17: 25,309,741 (GRCm39) |
H1090Q |
probably damaging |
Het |
Il20ra |
A |
G |
10: 19,625,032 (GRCm39) |
T104A |
probably damaging |
Het |
Il22ra2 |
A |
G |
10: 19,502,460 (GRCm39) |
D93G |
possibly damaging |
Het |
Ing1 |
A |
G |
8: 11,612,090 (GRCm39) |
K176R |
probably benign |
Het |
Jph1 |
A |
T |
1: 17,074,735 (GRCm39) |
C428S |
probably benign |
Het |
Kif13b |
G |
T |
14: 65,043,581 (GRCm39) |
G1794W |
probably damaging |
Het |
Map10 |
A |
G |
8: 126,398,553 (GRCm39) |
T649A |
probably benign |
Het |
Med12l |
T |
C |
3: 58,914,523 (GRCm39) |
|
probably null |
Het |
Nat8f1 |
A |
G |
6: 85,887,567 (GRCm39) |
I131T |
probably benign |
Het |
Oas1d |
C |
A |
5: 121,054,958 (GRCm39) |
Q177K |
probably benign |
Het |
Or4a74 |
C |
A |
2: 89,440,043 (GRCm39) |
M134I |
probably damaging |
Het |
Or51q1 |
G |
A |
7: 103,628,767 (GRCm39) |
D123N |
probably damaging |
Het |
P2ry2 |
A |
G |
7: 100,647,363 (GRCm39) |
V314A |
possibly damaging |
Het |
Pabir2 |
G |
A |
X: 52,349,554 (GRCm39) |
|
probably benign |
Het |
Pfkl |
G |
T |
10: 77,824,717 (GRCm39) |
R691S |
probably benign |
Het |
Plb1 |
T |
A |
5: 32,490,175 (GRCm39) |
I1005N |
probably damaging |
Het |
Prkacb |
A |
G |
3: 146,451,147 (GRCm39) |
|
probably benign |
Het |
Ptprm |
A |
T |
17: 66,990,403 (GRCm39) |
Y1412N |
possibly damaging |
Het |
Rab22a |
A |
G |
2: 173,503,226 (GRCm39) |
D13G |
probably damaging |
Het |
Rab29 |
G |
A |
1: 131,800,305 (GRCm39) |
W201* |
probably null |
Het |
Rasa3 |
T |
C |
8: 13,648,259 (GRCm39) |
E135G |
probably damaging |
Het |
Rassf10 |
A |
G |
7: 112,554,338 (GRCm39) |
E313G |
probably benign |
Het |
Sf1 |
GGCAGCAGCAGCAGCAGCAGC |
GGCAGCAGCAGCAGCAGC |
19: 6,424,845 (GRCm39) |
|
probably benign |
Het |
Sipa1l3 |
A |
T |
7: 29,031,678 (GRCm39) |
L468Q |
probably damaging |
Het |
Slc17a1 |
A |
T |
13: 24,062,695 (GRCm39) |
K254* |
probably null |
Het |
Slc6a12 |
G |
A |
6: 121,340,820 (GRCm39) |
|
probably null |
Het |
Slfn8 |
A |
G |
11: 82,895,570 (GRCm39) |
L412P |
probably damaging |
Het |
Taf4b |
T |
C |
18: 14,946,583 (GRCm39) |
S469P |
probably damaging |
Het |
Tlr12 |
C |
A |
4: 128,509,563 (GRCm39) |
G896W |
probably damaging |
Het |
Tnfrsf1a |
A |
G |
6: 125,337,729 (GRCm39) |
I229V |
probably benign |
Het |
Ttn |
G |
A |
2: 76,749,890 (GRCm39) |
H3720Y |
probably benign |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTCCATGAACAAAGAACTTAGGGTC -3'
(R):5'- ACTGAATCTGGGGAAACACTGG -3'
Sequencing Primer
(F):5'- GAACTTAGGGTCCTGGAAATCCC -3'
(R):5'- GCAGGGGACTCTGACTTCTC -3'
|
Posted On |
2015-09-24 |