Incidental Mutation 'RF028:Tgoln1'
ID |
604229 |
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 # |
RF028 (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) |
T to TTGTCTTGTCAGAATCACCTCCTGG
at 72593019 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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
GCTGTG |
GCTGTGCCTCCTGTG |
1: 82,891,299 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
TGTGGCTGC |
TGTGGCTGCCGTGGCTGC |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
Acap3 |
TGCATCCTGGGCTGC |
TGCATCCTGGGCTGCAGCATCCTGGGCTGC |
4: 155,989,548 (GRCm39) |
|
probably benign |
Het |
Arid1b |
C |
CGGG |
17: 5,045,873 (GRCm39) |
|
probably benign |
Het |
Blm |
CCTCCTCCTCCTCCTCCTCCTCCT |
CCTCCTCCTCCTACTCCTCCTCCTCCTCCTCCTCCT |
7: 80,162,653 (GRCm39) |
|
probably null |
Het |
Boc |
GAC |
G |
16: 44,316,796 (GRCm39) |
|
probably null |
Het |
Cacna1f |
GAG |
GAGAAG |
X: 7,486,299 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
GAG |
GAGAAG |
X: 7,486,302 (GRCm39) |
|
probably benign |
Het |
Catsper2 |
ATCGCTTTCCTCGTTTTCG |
ATCG |
2: 121,228,207 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
E4f1 |
CGC |
CGCGGC |
17: 24,674,164 (GRCm39) |
|
probably benign |
Het |
Eps8 |
TCGCTC |
TCGCTCGCTC |
6: 137,494,061 (GRCm39) |
|
probably benign |
Het |
Ermn |
AACT |
AACTACT |
2: 57,938,078 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
Gab3 |
CTTCTT |
CTTATTCTT |
X: 74,043,606 (GRCm39) |
|
probably null |
Het |
Gab3 |
TCT |
TCTGCT |
X: 74,043,623 (GRCm39) |
|
probably benign |
Het |
Gabre |
CTC |
CTCTGGGTC |
X: 71,314,369 (GRCm39) |
|
probably benign |
Het |
Gm7579 |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
7: 141,765,782 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
TG |
TGGGTGAG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
Hsdl2 |
CAGCTGCAG |
CAGCTGCAGCAGCAGCCATAGCTGCAG |
4: 59,610,650 (GRCm39) |
|
probably null |
Het |
Iqcf4 |
TTTTCCTTTT |
TTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCGTTTCCTTTT |
9: 106,447,813 (GRCm39) |
|
probably benign |
Het |
Kmt2e |
TTT |
TTTTATT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
Kri1 |
CTCCTCCT |
C |
9: 21,192,367 (GRCm39) |
|
probably null |
Het |
Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,019,979 (GRCm39) |
|
probably benign |
Het |
Lce1m |
GTTGCTGCCACTG |
GTTGCTGCCACTGTTGCTGCCACTG |
3: 92,925,438 (GRCm39) |
|
probably benign |
Het |
Loricrin |
CGCCGCCT |
C |
3: 91,989,206 (GRCm39) |
|
probably null |
Het |
Luzp1 |
A |
AGGTGGCCTCTTCAGG |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
CCAACA |
CCAACAGGTCCCTCGCCTCTGTTACCCCACAAATAAACAACA |
11: 58,281,065 (GRCm39) |
|
probably benign |
Het |
Mn1 |
CAG |
CAGGAG |
5: 111,567,577 (GRCm39) |
|
probably benign |
Het |
Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGTGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,012 (GRCm39) |
|
probably benign |
Het |
Nefh |
GGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTTGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,029 (GRCm39) |
|
probably benign |
Het |
Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
Nusap1 |
AGAT |
AGATCCACGTTAGCAGTGAGGAGCAAGCTGCGAT |
2: 119,458,059 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
CAGTGAGGAGCAAGCTGAGA |
CAGTGAGGAGCAAGCTGAGATACACGTTAGTAGTGAGGAGCAAGCTGAGA |
2: 119,458,072 (GRCm39) |
|
probably benign |
Het |
Phf20 |
CCCCCC |
CCCCCCGCCCCC |
2: 156,146,543 (GRCm39) |
|
probably benign |
Het |
Ppp1r8 |
TCTCTCTCAC |
TC |
4: 132,557,926 (GRCm39) |
|
probably benign |
Het |
Prr5l |
GCCTC |
G |
2: 101,627,918 (GRCm39) |
|
probably null |
Het |
Rbm12 |
CGGGACCGGGCATTGCGGGACCGGGCATTGCGGG |
CGG |
2: 155,938,050 (GRCm39) |
|
probably null |
Het |
Rpgrip1 |
GA |
GAGTA |
14: 52,386,855 (GRCm39) |
|
probably null |
Het |
Spmap2l |
AGCGATCCTCCCCAGTCCCGCAAGGCC |
AGCGATCCTCCCCAGTCCCGCAAGGCCCGCGATCCTCCCCAGTCCCGCAAGGCC |
5: 77,164,248 (GRCm39) |
|
probably benign |
Het |
Tanc1 |
GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA |
G |
2: 59,673,613 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCATCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,139 (GRCm39) |
|
probably benign |
Het |
Triobp |
CAGGACT |
CAGGACTGCCTGTGCCCAACGGAACAACCCAAGGACT |
15: 78,851,239 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
AACAGCAGC |
AACAGCAGCTACAGCAGC |
8: 109,682,728 (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 |
|
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'- CCCCAGATTCAGTTTTGGAAGTAAG -3'
(R):5'- TCCAGTAAGGCGGAATCTGG -3'
Sequencing Primer
(F):5'- AGATTCAGTTTTGGAAGTAAGTGTTG -3'
(R):5'- CACAGTTTGGGTGATTCCAGAAG -3'
|
Posted On |
2019-12-04 |