Incidental Mutation 'RF057:Tgoln1'
ID |
605299 |
Institutional Source |
Beutler Lab
|
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 # |
RF057 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
72585415-72593983 bp(-) (GRCm39) |
Type of Mutation |
small insertion (8 aa in frame mutation) |
DNA Base Change (assembly) |
CAGAAT to CAGAATCACCTCCCGTGGGCTTGCGAGAAT
at 72593052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070524]
|
AlphaFold |
Q62313 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070524
|
SMART Domains |
Protein: ENSMUSP00000068487 Gene: ENSMUSG00000056429
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.3%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030445D17Rik |
GCACATGCACACACA |
GCACA |
4: 136,189,617 (GRCm39) |
|
probably null |
Het |
Alpk3 |
AAGGCACCGAC |
A |
7: 80,742,165 (GRCm39) |
|
probably null |
Het |
Ankhd1 |
CGGC |
CGGCGGTGGC |
18: 36,693,982 (GRCm39) |
|
probably benign |
Het |
Calhm1 |
GCTGTGGC |
GCTGTGGCTGTGTCTGTGGC |
19: 47,129,709 (GRCm39) |
|
probably benign |
Het |
Crtam |
TTCTTGATCTGAA |
T |
9: 40,895,650 (GRCm39) |
|
probably null |
Het |
Cul9 |
CCT |
CCTACT |
17: 46,811,789 (GRCm39) |
|
probably null |
Het |
Dmkn |
GAAGTGGTGGAAGTGGTGG |
GAAGTGGTGGAAGTGGTGGAAGTGGTGTAAGTGGTGGAAGTGGTGG |
7: 30,466,613 (GRCm39) |
|
probably benign |
Het |
Efhd2 |
CGCCG |
CGCCGAAGCCG |
4: 141,602,080 (GRCm39) |
|
probably benign |
Het |
Eps8 |
CGCTC |
CGCTCGCTC |
6: 137,494,062 (GRCm39) |
|
probably benign |
Het |
Garin5a |
GGAGGA |
GGAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGTGAGGA |
7: 44,149,956 (GRCm39) |
|
probably null |
Het |
Gm16519 |
AAGCAG |
AAGCAGCAG |
17: 71,236,326 (GRCm39) |
|
probably benign |
Het |
Krt10 |
CGCC |
CGCCGCC |
11: 99,277,025 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
CCAACA |
CCAACAGTTCCCTCGCCTCTGTTACCCCACAAATCAACAACA |
11: 58,281,065 (GRCm39) |
|
probably benign |
Het |
Mapk6 |
CCCCA |
CCCCATCCCA |
9: 75,295,540 (GRCm39) |
|
probably null |
Het |
Med12l |
GCA |
GCATCA |
3: 59,183,401 (GRCm39) |
|
probably benign |
Het |
Morn4 |
GTCAGGCAGTGA |
GTCAGGCAGTGACTCAGGCAGTGA |
19: 42,064,545 (GRCm39) |
|
probably null |
Het |
Pdik1l |
TTTTTGTTTT |
TTTTTGTTTTGGTTTTGTTTT |
4: 134,006,679 (GRCm39) |
|
probably null |
Het |
Prp2 |
CACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCA |
C |
6: 132,577,493 (GRCm39) |
|
probably null |
Het |
Rtbdn |
GCAGCG |
GCAGCGACAGCG |
8: 85,682,795 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
TTTCCCAGAGATCCCCTTGGC |
TTTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACCTTCCCAGAGATCCCCTTGGC |
18: 60,966,636 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
GAGATCCCCTTGGC |
GAGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCATAGATCCCCTTGGC |
18: 60,966,643 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
TCCCAGAGATCCCCTTGGC |
TCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTTGCCCAGAGATCCCCTTGGC |
18: 60,966,638 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
TTCCCAGAGATCCCCTTGGC |
TTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTGTCCCAGAGATCCCCTTGGC |
18: 60,966,637 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
15: 72,673,144 (GRCm39) |
|
probably benign |
Het |
Ttn |
ACCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTC |
2: 76,673,734 (GRCm39) |
|
probably benign |
Het |
Zfp384 |
C |
CCCAGGCCCAGGG |
6: 125,013,459 (GRCm39) |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTTTCCCCAGATTCAGTTTTGGAAG -3'
(R):5'- TCCAGTAAGGCGGAATCTGG -3'
Sequencing Primer
(F):5'- CCCAGATTCAGTTTTGGAAGTAAGTG -3'
(R):5'- GAATCTGGGCCGCGGAC -3'
|
Posted On |
2019-12-04 |