Incidental Mutation 'RF043:Tgoln1'
| ID |
604913 |
| 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: 0.130)
|
| Stock # |
RF043 (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) |
GCTTGCCAGAAT to GCTTGCCAGAATCACCGCCCGTGGTCTTGCCAGAAT
at 72593046 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: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc2 |
GCGGCGGCGGCGAC |
GC |
2: 25,162,573 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGTGGCGG |
18: 36,693,970 (GRCm39) |
|
probably benign |
Het |
| Btnl10 |
CAAA |
CAAAAAA |
11: 58,814,752 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
TCCAC |
TC |
2: 155,915,430 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,464 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
AGACACACTGCCCAGGGA |
AGACACACTGCCCAGGGATGTGACCGACACACTGCCCAGGGA |
9: 86,922,484 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGCAGGAG |
9: 99,465,750 (GRCm39) |
|
probably benign |
Het |
| Defb22 |
GCGGCA |
GCGGCAGAGCTGGCCTTTGCGGCA |
2: 152,327,753 (GRCm39) |
|
probably benign |
Het |
| Emid1 |
G |
T |
11: 5,094,322 (GRCm39) |
P63Q |
probably damaging |
Het |
| Gabre |
GCTCCG |
GCTCCGACTCCG |
X: 71,313,654 (GRCm39) |
|
probably benign |
Het |
| Gar1 |
AACTGCC |
A |
3: 129,624,337 (GRCm39) |
|
probably benign |
Het |
| Gm10181 |
GAGAGAGAGAGAGA |
G |
9: 25,000,755 (GRCm39) |
|
probably null |
Het |
| Hic1 |
GGGA |
G |
11: 75,060,281 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GG |
GGGCTTGAAGTGTG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
CTTTTCCTTTT |
CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCGTTTTCCTTTT |
9: 106,447,812 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
TG |
TGAGCACATGG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
| Krtap4-2 |
AGGGGCGGCAGC |
A |
11: 99,525,547 (GRCm39) |
|
probably null |
Het |
| Lmx1b |
CATCTTGATGCCGTCCAA |
CA |
2: 33,530,521 (GRCm39) |
|
probably null |
Het |
| Lrch1 |
TGGTGGTG |
T |
14: 75,185,015 (GRCm39) |
|
probably null |
Het |
| Lypd8 |
CA |
CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAAGA |
11: 58,281,069 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCTGC |
X: 70,162,441 (GRCm39) |
|
probably benign |
Het |
| Mrgprx1 |
GAAC |
GAACAAC |
7: 47,671,257 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA |
CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA |
11: 4,891,016 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
AGTGAGGAGCAAGCTGAGA |
AGTGAGGAGCAAGCTGAGATACACGTTAGCCGTGAGGAGCAAGCTGAGA |
2: 119,458,073 (GRCm39) |
|
probably benign |
Het |
| P4ha2 |
GGTGTTG |
GG |
11: 54,001,076 (GRCm39) |
|
probably null |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
| Plekhs1 |
TCCAGAC |
TCCAGACCTCCCCCCAGAC |
19: 56,468,290 (GRCm39) |
|
probably benign |
Het |
| Ptms |
TCCTCCTC |
TCCTCCTCCTC |
6: 124,891,411 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
AATGGGGATTC |
AATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGCCATGGGGATTC |
5: 90,756,791 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ATTC |
ATTCTGCCTCACTCAGGGTCCTGTAGAGCAATGGGGCTTC |
5: 90,756,798 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
CAAAAAAAAAAAA |
15: 36,010,982 (GRCm39) |
|
probably benign |
Het |
| Rnf144a |
TCTC |
TCTCTCTCTCTCTCGCTC |
12: 26,364,013 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
GAG |
GAGAAG |
14: 52,386,852 (GRCm39) |
|
probably benign |
Het |
| Sgpp1 |
ACACAC |
A |
12: 75,769,399 (GRCm39) |
|
probably null |
Het |
| Slc39a4 |
GTC |
GTCATCATGATCACCATGGTCACCATGATCGCTGTGTTC |
15: 76,499,070 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
TCTCGC |
TCTCGCGCTCGC |
4: 34,049,846 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GGA |
GGATGA |
X: 98,110,126 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GA |
GAGCA |
X: 98,110,133 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGATCCCCTTGGC |
AGATCCCCTTGGCTGCTGAGAAGGGCACTTTCCCAGGGATCCCCTTGGC |
18: 60,966,644 (GRCm39) |
|
probably benign |
Het |
| Tmed6 |
AGC |
AGCTCGC |
8: 107,788,228 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
GCTGCTGCTGCTGCTGCTGCTGCTGCT |
GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,154 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
TT |
TTTGCCT |
4: 147,910,188 (GRCm39) |
|
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 |
|
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 |
72,593,019 (GRCm39) |
small insertion |
probably benign |
|
|
RF057:Tgoln1
|
UTSW |
6 |
72,593,052 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCCAGATTCAGTTTTGGAAG -3'
(R):5'- GCAGCAGTTTCCAGTAAGGC -3'
Sequencing Primer
(F):5'- CCCAGATTCAGTTTTGGAAGTAAGTG -3'
(R):5'- CAGTTTCCAGTAAGGCGGAATCTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation