Incidental Mutation 'R5459:Tango6'
| ID |
432931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tango6
|
| Ensembl Gene |
ENSMUSG00000041949 |
| Gene Name |
transport and golgi organization 6 |
| Synonyms |
Tango6, Tmco7 |
| MMRRC Submission |
043022-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5459 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
107409700-107578071 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107576921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1058
(D1058E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048359]
|
| AlphaFold |
Q8C3S2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048359
AA Change: D1058E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000043953
Gene: ENSMUSG00000041949
AA Change: D1058E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
486 |
N/A |
INTRINSIC |
|
Pfam:RTP1_C1
|
824 |
935 |
1.6e-35 |
PFAM |
|
low complexity region
|
998 |
1013 |
N/A |
INTRINSIC |
|
Pfam:RTP1_C2
|
1026 |
1059 |
7.5e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
A |
G |
17: 35,879,079 (GRCm39) |
E139G |
possibly damaging |
Het |
| Abcc6 |
T |
C |
7: 45,631,607 (GRCm39) |
N1223S |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,839,332 (GRCm39) |
|
probably null |
Het |
| Aloxe3 |
T |
A |
11: 69,023,654 (GRCm39) |
F259Y |
possibly damaging |
Het |
| Armc9 |
G |
A |
1: 86,135,694 (GRCm39) |
R550Q |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,887,334 (GRCm39) |
D787G |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,148,472 (GRCm39) |
I283V |
probably null |
Het |
| Ebf2 |
A |
G |
14: 67,472,650 (GRCm39) |
M23V |
probably benign |
Het |
| Fbxw11 |
T |
C |
11: 32,689,191 (GRCm39) |
V438A |
possibly damaging |
Het |
| Fcrla |
G |
A |
1: 170,745,738 (GRCm39) |
T348M |
possibly damaging |
Het |
| Gpr179 |
A |
T |
11: 97,227,483 (GRCm39) |
H1557Q |
probably benign |
Het |
| Gpr87 |
A |
G |
3: 59,087,148 (GRCm39) |
V119A |
possibly damaging |
Het |
| Grep1 |
C |
T |
17: 23,930,817 (GRCm39) |
|
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,052,629 (GRCm39) |
S285P |
probably damaging |
Het |
| Hs3st5 |
T |
C |
10: 36,704,742 (GRCm39) |
V15A |
possibly damaging |
Het |
| Hyal5 |
C |
T |
6: 24,891,250 (GRCm39) |
H355Y |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Map4k3 |
T |
A |
17: 80,917,216 (GRCm39) |
N587Y |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,332,316 (GRCm39) |
L1211* |
probably null |
Het |
| Mcmdc2 |
A |
G |
1: 10,007,309 (GRCm39) |
I620V |
probably benign |
Het |
| Mical2 |
C |
T |
7: 111,981,444 (GRCm39) |
H539Y |
probably benign |
Het |
| Myo9a |
T |
C |
9: 59,791,803 (GRCm39) |
L1802P |
probably damaging |
Het |
| Neto2 |
T |
A |
8: 86,397,112 (GRCm39) |
I47F |
probably benign |
Het |
| Oog3 |
G |
A |
4: 143,885,815 (GRCm39) |
T261I |
probably benign |
Het |
| Or5b95 |
A |
G |
19: 12,657,799 (GRCm39) |
E109G |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,086,158 (GRCm39) |
L519P |
probably benign |
Het |
| Pnpla6 |
A |
T |
8: 3,585,829 (GRCm39) |
M844L |
probably benign |
Het |
| Polk |
C |
T |
13: 96,631,984 (GRCm39) |
G250R |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 156,985,231 (GRCm39) |
S839P |
probably damaging |
Het |
| Siae |
T |
C |
9: 37,528,119 (GRCm39) |
Y31H |
probably damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,422,912 (GRCm39) |
V379A |
probably damaging |
Het |
| Snx9 |
C |
T |
17: 5,970,913 (GRCm39) |
T418M |
probably damaging |
Het |
| Spata31e2 |
A |
C |
1: 26,724,272 (GRCm39) |
S303A |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,185 (GRCm39) |
T258A |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,144,234 (GRCm39) |
Y656F |
probably damaging |
Het |
| Tnik |
T |
A |
3: 28,715,890 (GRCm39) |
I1168K |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,014,510 (GRCm39) |
E587G |
probably damaging |
Het |
| Tyw1 |
A |
C |
5: 130,303,547 (GRCm39) |
D305A |
probably damaging |
Het |
| Vmn1r19 |
T |
A |
6: 57,381,475 (GRCm39) |
Y9* |
probably null |
Het |
| Zkscan3 |
A |
T |
13: 21,578,982 (GRCm39) |
V142E |
probably damaging |
Het |
|
| Other mutations in Tango6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:Tango6
|
APN |
8 |
107,469,104 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00925:Tango6
|
APN |
8 |
107,422,077 (GRCm39) |
splice site |
probably benign |
|
|
IGL00965:Tango6
|
APN |
8 |
107,468,642 (GRCm39) |
splice site |
probably benign |
|
|
IGL01412:Tango6
|
APN |
8 |
107,545,131 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02888:Tango6
|
APN |
8 |
107,447,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02892:Tango6
|
APN |
8 |
107,468,642 (GRCm39) |
splice site |
probably benign |
|
|
R0241:Tango6
|
UTSW |
8 |
107,473,993 (GRCm39) |
splice site |
probably benign |
|
|
R0494:Tango6
|
UTSW |
8 |
107,462,314 (GRCm39) |
splice site |
probably benign |
|
|
R1127:Tango6
|
UTSW |
8 |
107,415,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1440:Tango6
|
UTSW |
8 |
107,415,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1547:Tango6
|
UTSW |
8 |
107,508,418 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1921:Tango6
|
UTSW |
8 |
107,415,426 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2255:Tango6
|
UTSW |
8 |
107,415,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2761:Tango6
|
UTSW |
8 |
107,425,664 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4211:Tango6
|
UTSW |
8 |
107,415,856 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4463:Tango6
|
UTSW |
8 |
107,415,706 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4696:Tango6
|
UTSW |
8 |
107,426,863 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4867:Tango6
|
UTSW |
8 |
107,545,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4946:Tango6
|
UTSW |
8 |
107,444,722 (GRCm39) |
nonsense |
probably null |
|
|
R5522:Tango6
|
UTSW |
8 |
107,422,230 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5795:Tango6
|
UTSW |
8 |
107,444,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5878:Tango6
|
UTSW |
8 |
107,415,800 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6318:Tango6
|
UTSW |
8 |
107,545,129 (GRCm39) |
missense |
probably benign |
|
|
R6335:Tango6
|
UTSW |
8 |
107,419,308 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6633:Tango6
|
UTSW |
8 |
107,444,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6664:Tango6
|
UTSW |
8 |
107,468,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Tango6
|
UTSW |
8 |
107,468,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6866:Tango6
|
UTSW |
8 |
107,469,104 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7046:Tango6
|
UTSW |
8 |
107,533,748 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7130:Tango6
|
UTSW |
8 |
107,533,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Tango6
|
UTSW |
8 |
107,415,791 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7418:Tango6
|
UTSW |
8 |
107,415,466 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7480:Tango6
|
UTSW |
8 |
107,423,359 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7704:Tango6
|
UTSW |
8 |
107,425,621 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7809:Tango6
|
UTSW |
8 |
107,415,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7826:Tango6
|
UTSW |
8 |
107,419,245 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8085:Tango6
|
UTSW |
8 |
107,447,366 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8098:Tango6
|
UTSW |
8 |
107,468,990 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8162:Tango6
|
UTSW |
8 |
107,409,882 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8892:Tango6
|
UTSW |
8 |
107,468,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8970:Tango6
|
UTSW |
8 |
107,415,871 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9336:Tango6
|
UTSW |
8 |
107,415,701 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9760:Tango6
|
UTSW |
8 |
107,576,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tango6
|
UTSW |
8 |
107,423,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tango6
|
UTSW |
8 |
107,415,424 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTCCCTGCATTATCTTACAAGG -3'
(R):5'- TGCCAGCACCGTATAGCTAC -3'
Sequencing Primer
(F):5'- TTATCTTACAAGGACGCCAGAGACTG -3'
(R):5'- CTTCAGGTTATAGCAGACCTCAGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation