Incidental Mutation 'RF034:Tmed6'
ID |
604494 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmed6
|
Ensembl Gene |
ENSMUSG00000031919 |
Gene Name |
transmembrane p24 trafficking protein 6 |
Synonyms |
1810015P03Rik, 1810018I24Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
RF034 (G1)
|
Quality Score |
214.458 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
107788116-107792276 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
AGC to AGCTGGC
at 107788228 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034391]
[ENSMUST00000034392]
[ENSMUST00000034393]
[ENSMUST00000095517]
[ENSMUST00000170962]
|
AlphaFold |
Q9CQG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034391
|
SMART Domains |
Protein: ENSMUSP00000034391 Gene: ENSMUSG00000031916
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
Pfam:Dor1
|
56 |
394 |
7.6e-151 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000034392
|
SMART Domains |
Protein: ENSMUSP00000034392 Gene: ENSMUSG00000031917
Domain | Start | End | E-Value | Type |
PUA
|
95 |
170 |
4.36e-20 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000034393
|
SMART Domains |
Protein: ENSMUSP00000034393 Gene: ENSMUSG00000031919
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
EMP24_GP25L
|
43 |
228 |
1.87e-39 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095517
|
SMART Domains |
Protein: ENSMUSP00000093173 Gene: ENSMUSG00000031916
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
Pfam:Dor1
|
56 |
394 |
7.6e-151 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170962
|
SMART Domains |
Protein: ENSMUSP00000126153 Gene: ENSMUSG00000031917
Domain | Start | End | E-Value | Type |
PDB:1T5Y|A
|
1 |
133 |
7e-87 |
PDB |
Blast:PUA
|
95 |
123 |
5e-13 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
TGTGGCTGC |
TGTGGCTGCGGTGGCTGC |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
Acap3 |
GCATCCTGGGCTGCT |
GCATCCTGGGCTGCTACATCCTGGGCTGCT |
4: 155,989,549 (GRCm39) |
|
probably benign |
Het |
Alpk3 |
GAGAAGGCAC |
G |
7: 80,742,162 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
T |
TTATTATGATTATTAC |
3: 37,104,909 (GRCm39) |
|
probably benign |
Het |
Cox7a2l |
GGA |
GGATGGGGA |
17: 83,810,151 (GRCm39) |
|
probably benign |
Het |
Cpne1 |
TCCAC |
TC |
2: 155,915,430 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
CCCAGGGATGTGACAGACACACTG |
CCCAGGGATGTGACAGACACACTGACCAGGGATGTGACAGACACACTG |
9: 86,922,470 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
GA |
GATGTGACAGACACACTGCCCAGGTA |
9: 86,922,500 (GRCm39) |
|
probably null |
Het |
Defb22 |
TGCGGCA |
TGCGGCAGGGCTGGCCTTTGCGGCA |
2: 152,327,752 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
GGGCGGAGCACAGTTCCTACCTCGTT |
GGGCGGAGCACAGTTCCTACCTCGTTTTGGTGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,416 (GRCm39) |
|
probably null |
Het |
Fbrsl1 |
GTG |
GTGCGTGTGCTGTTG |
5: 110,526,015 (GRCm39) |
|
probably benign |
Het |
Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
Gabre |
GCTC |
GCTCTGTCTC |
X: 71,314,368 (GRCm39) |
|
probably benign |
Het |
Garin5a |
GGGTCTGAGGGAGGA |
GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA |
7: 44,149,947 (GRCm39) |
|
probably null |
Het |
Gm15155 |
CAA |
CAACAACAAA |
X: 155,128,636 (GRCm39) |
|
probably null |
Het |
Igf1r |
GGAGATGGAGC |
GGAGATGGAGCTAGAGATGGAGC |
7: 67,875,924 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CACCACAGC |
CACCACAGCCACAGCGACCACAGC |
1: 83,020,003 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
AGC |
AGCGGC |
X: 70,162,441 (GRCm39) |
|
probably benign |
Het |
Map1a |
CCAGCTCCAGCTCCA |
CCAGCTCCAGCTCCAGCTACAGCTCCAGATACAGCTCCAGCTCCA |
2: 121,136,785 (GRCm39) |
|
probably benign |
Het |
Map1a |
GCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA |
2: 121,136,788 (GRCm39) |
|
probably benign |
Het |
Neu1 |
TCTTCTA |
T |
17: 35,151,534 (GRCm39) |
|
probably benign |
Het |
Nolc1 |
CAGCAGC |
CAGCAGCAGAAGCAGC |
19: 46,069,810 (GRCm39) |
|
probably benign |
Het |
Or7g32 |
G |
T |
9: 19,388,928 (GRCm39) |
A206E |
possibly damaging |
Het |
Pdik1l |
TTTT |
TTTTGTTTTTGGTTT |
4: 134,006,685 (GRCm39) |
|
probably null |
Het |
Rassf6 |
CACTCATGGTCCTGTAGAGCAATGGGGATTC |
CACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTGACTCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,771 (GRCm39) |
|
probably benign |
Het |
Rassf6 |
CTGTAGAGCAATGGGGATTC |
CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC |
5: 90,756,782 (GRCm39) |
|
probably benign |
Het |
Rassf6 |
ATGGTCCTGTAGAGCAATGGGGATTC |
ATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTCGTGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,776 (GRCm39) |
|
probably benign |
Het |
Rpgrip1 |
AGAGGAGGA |
AGA |
14: 52,386,983 (GRCm39) |
|
probably benign |
Het |
Rprd2 |
AGAGCCTGTGGTGCTCGCAGGGGAGGCTGTGGTGCTC |
AGAGGCTGTGGTGCTC |
3: 95,673,632 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
CG |
CGAGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Rtbdn |
GCGGC |
GCGGCATCGGC |
8: 85,682,804 (GRCm39) |
|
probably benign |
Het |
Smarca2 |
CA |
CACCAAGA |
19: 26,608,411 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCACCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
Tfeb |
CAG |
CAGTAG |
17: 48,097,023 (GRCm39) |
|
probably null |
Het |
Tomm5 |
TCTTCCGC |
TCTTCCGCAGCTTCCGC |
4: 45,107,976 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
TG |
TGATGCTGCTGCTGCGG |
15: 72,673,147 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Tmed6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02447:Tmed6
|
APN |
8 |
107,792,240 (GRCm39) |
missense |
possibly damaging |
0.85 |
FR4589:Tmed6
|
UTSW |
8 |
107,788,230 (GRCm39) |
nonsense |
probably null |
|
R0077:Tmed6
|
UTSW |
8 |
107,792,198 (GRCm39) |
missense |
probably damaging |
0.98 |
R0653:Tmed6
|
UTSW |
8 |
107,792,283 (GRCm39) |
splice site |
probably null |
|
R0718:Tmed6
|
UTSW |
8 |
107,788,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R0750:Tmed6
|
UTSW |
8 |
107,788,401 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1497:Tmed6
|
UTSW |
8 |
107,790,754 (GRCm39) |
missense |
probably benign |
0.05 |
R3016:Tmed6
|
UTSW |
8 |
107,792,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R4589:Tmed6
|
UTSW |
8 |
107,790,793 (GRCm39) |
missense |
probably benign |
0.31 |
R4754:Tmed6
|
UTSW |
8 |
107,790,362 (GRCm39) |
missense |
probably damaging |
0.99 |
R5860:Tmed6
|
UTSW |
8 |
107,790,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R5861:Tmed6
|
UTSW |
8 |
107,790,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R5862:Tmed6
|
UTSW |
8 |
107,790,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R5941:Tmed6
|
UTSW |
8 |
107,790,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R6177:Tmed6
|
UTSW |
8 |
107,792,083 (GRCm39) |
missense |
probably damaging |
0.98 |
R6225:Tmed6
|
UTSW |
8 |
107,788,371 (GRCm39) |
missense |
probably damaging |
0.98 |
R8869:Tmed6
|
UTSW |
8 |
107,792,164 (GRCm39) |
missense |
probably damaging |
0.98 |
R9042:Tmed6
|
UTSW |
8 |
107,790,385 (GRCm39) |
missense |
probably benign |
0.39 |
R9183:Tmed6
|
UTSW |
8 |
107,788,390 (GRCm39) |
nonsense |
probably null |
|
RF043:Tmed6
|
UTSW |
8 |
107,788,228 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACAGCTGGATAAAGATGTTTCTAG -3'
(R):5'- CGCTTCTACAACTATGCCAGG -3'
Sequencing Primer
(F):5'- GTCTACCCGGCAAGTTCTAGTAG -3'
(R):5'- GCTTCTACAACTATGCCAGGATGAG -3'
|
Posted On |
2019-12-04 |