Incidental Mutation 'RF032:Tgoln1'
ID |
604410 |
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 # |
RF032 (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 GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT
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: 99.3%
- 20x: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
TACCT |
TACCTGACCT |
17: 24,506,701 (GRCm39) |
|
probably null |
Het |
Acap3 |
CTGCTG |
CTGCTGCATCCTGGGATGCTG |
4: 155,989,559 (GRCm39) |
|
probably benign |
Het |
Arid1b |
GCG |
GCGTCG |
17: 5,045,863 (GRCm39) |
|
probably benign |
Het |
Blm |
CTCC |
CTCCTCCTCCTCGTCC |
7: 80,162,678 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
GAG |
GAGTAG |
X: 7,486,302 (GRCm39) |
|
probably null |
Het |
Calhm1 |
C |
CTGTGGCCGTGG |
19: 47,129,722 (GRCm39) |
|
probably null |
Het |
Cluh |
CCCGAGCC |
CCCGAGCCCGAGCC |
11: 74,560,341 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,466 (GRCm39) |
|
probably benign |
Het |
Dmkn |
GT |
GTTGTGAAAGTGGTGGAAGTGGTGGAATT |
7: 30,466,607 (GRCm39) |
|
probably benign |
Het |
Efhd2 |
CGCC |
CGCCGCAGCC |
4: 141,602,083 (GRCm39) |
|
probably benign |
Het |
Enah |
TGGCGGTGG |
TG |
1: 181,749,494 (GRCm39) |
|
probably null |
Het |
Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
H2-T10 |
TTTCCCACTGTA |
T |
17: 36,431,186 (GRCm39) |
|
probably null |
Het |
Ifi207 |
GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC |
GCCTGAGCTGTGGAAGTCTC |
1: 173,562,723 (GRCm39) |
|
probably benign |
Het |
Igf1r |
GATGGAGC |
GATGGAGCTGGATATGGAGC |
7: 67,875,927 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,019,979 (GRCm39) |
|
probably benign |
Het |
Lmx1b |
TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA |
TACATCTTGATGCCGTCCA |
2: 33,530,501 (GRCm39) |
|
probably null |
Het |
Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
Med12l |
GCA |
GCACCA |
3: 59,183,410 (GRCm39) |
|
probably benign |
Het |
Med12l |
AGC |
AGCGGC |
3: 59,183,406 (GRCm39) |
|
probably benign |
Het |
Mn1 |
CAG |
CAGAAG |
5: 111,567,577 (GRCm39) |
|
probably benign |
Het |
Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
Nusap1 |
TTAGCAGTGAGGAGCAAGCTGAGA |
TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,068 (GRCm39) |
|
probably benign |
Het |
Or10j2 |
GTGACATC |
G |
1: 173,098,276 (GRCm39) |
|
probably null |
Het |
Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
Pik3c2g |
G |
GGAGA |
6: 139,612,656 (GRCm39) |
|
probably null |
Het |
Pou3f1 |
GGCGGCCG |
GGCGGCCGCGGCCG |
4: 124,551,598 (GRCm39) |
|
probably benign |
Het |
Rassf6 |
ATTC |
ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC |
5: 90,756,798 (GRCm39) |
|
probably benign |
Het |
Reep1 |
CC |
CCCGAC |
6: 71,684,952 (GRCm39) |
|
probably null |
Het |
Slc12a1 |
ACAAACC |
ACAAACCTTTGGCCACCAAACC |
2: 124,996,130 (GRCm39) |
|
probably benign |
Het |
Smpx |
CCCCCCA |
C |
X: 156,503,919 (GRCm39) |
|
probably benign |
Het |
Spaca1 |
TCGC |
TCGCTCACGC |
4: 34,049,854 (GRCm39) |
|
probably benign |
Het |
Supt20 |
GCAGCA |
GCAGCACCAGCA |
3: 54,635,087 (GRCm39) |
|
probably benign |
Het |
Triobp |
CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
15: 78,851,236 (GRCm39) |
|
probably benign |
Het |
Vat1l |
C |
T |
8: 115,016,069 (GRCm39) |
L320F |
probably damaging |
Het |
Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 109,682,724 (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 |
|
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'- GCCAGTGTTTCCCCAGATTC -3'
(R):5'- TTTCCAGTAAGGCGGAATCTGG -3'
Sequencing Primer
(F):5'- TCCCCAGATTCAGTTTTGGAAG -3'
(R):5'- GAATCTGGGCCGCGGAC -3'
|
Posted On |
2019-12-04 |