Incidental Mutation 'IGL02888:Tango6'
ID |
363068 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tango6
|
Ensembl Gene |
ENSMUSG00000041949 |
Gene Name |
transport and golgi organization 6 |
Synonyms |
Tango6, Tmco7 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02888
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
107409700-107578071 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107447297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 565
(D565G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048359]
|
AlphaFold |
Q8C3S2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048359
AA Change: D565G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043953 Gene: ENSMUSG00000041949 AA Change: D565G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212764
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,104,610 (GRCm39) |
H345R |
probably damaging |
Het |
Afap1l1 |
T |
A |
18: 61,881,879 (GRCm39) |
Y272F |
probably damaging |
Het |
AI661453 |
C |
A |
17: 47,778,329 (GRCm39) |
|
probably benign |
Het |
Ajap1 |
T |
G |
4: 153,516,718 (GRCm39) |
I208L |
probably benign |
Het |
Aldh3b2 |
G |
A |
19: 4,030,083 (GRCm39) |
V356M |
probably benign |
Het |
Angptl7 |
T |
A |
4: 148,580,788 (GRCm39) |
|
probably benign |
Het |
Atp2a3 |
G |
A |
11: 72,867,954 (GRCm39) |
|
probably benign |
Het |
Birc2 |
T |
C |
9: 7,819,559 (GRCm39) |
D451G |
probably benign |
Het |
Brpf3 |
G |
A |
17: 29,047,365 (GRCm39) |
R1043H |
probably damaging |
Het |
Cd177 |
A |
G |
7: 24,457,862 (GRCm39) |
L132P |
probably damaging |
Het |
Chsy3 |
A |
G |
18: 59,543,067 (GRCm39) |
D735G |
probably benign |
Het |
Cldn8 |
A |
T |
16: 88,359,271 (GRCm39) |
I218K |
probably benign |
Het |
Cltc |
T |
C |
11: 86,648,123 (GRCm39) |
|
probably benign |
Het |
Col22a1 |
T |
C |
15: 71,718,068 (GRCm39) |
H619R |
unknown |
Het |
Crxos |
G |
A |
7: 15,636,855 (GRCm39) |
E143K |
possibly damaging |
Het |
Dcp1b |
A |
G |
6: 119,197,048 (GRCm39) |
|
probably benign |
Het |
Ddc |
A |
G |
11: 11,772,297 (GRCm39) |
|
probably benign |
Het |
Dnajc13 |
A |
T |
9: 104,057,261 (GRCm39) |
|
probably benign |
Het |
Dnajc27 |
C |
T |
12: 4,139,186 (GRCm39) |
H75Y |
possibly damaging |
Het |
Fgd3 |
C |
T |
13: 49,435,292 (GRCm39) |
|
probably null |
Het |
Gcc2 |
A |
G |
10: 58,130,650 (GRCm39) |
D1414G |
probably damaging |
Het |
Gtf3c2 |
G |
A |
5: 31,331,169 (GRCm39) |
P169L |
probably damaging |
Het |
Ighv1-76 |
T |
A |
12: 115,811,566 (GRCm39) |
S96C |
probably damaging |
Het |
Lmbrd1 |
T |
A |
1: 24,754,053 (GRCm39) |
I206K |
possibly damaging |
Het |
Lypd5 |
A |
G |
7: 24,052,044 (GRCm39) |
S120G |
probably damaging |
Het |
Mgat4b |
T |
A |
11: 50,123,159 (GRCm39) |
Y249N |
probably damaging |
Het |
Msh4 |
A |
T |
3: 153,602,550 (GRCm39) |
L32* |
probably null |
Het |
Muc4 |
A |
G |
16: 32,575,656 (GRCm39) |
|
probably benign |
Het |
Myo6 |
A |
G |
9: 80,177,013 (GRCm39) |
|
probably benign |
Het |
Nenf |
T |
C |
1: 191,042,118 (GRCm39) |
T113A |
probably benign |
Het |
Nup85 |
A |
G |
11: 115,469,626 (GRCm39) |
D75G |
possibly damaging |
Het |
Nutm1 |
A |
T |
2: 112,080,980 (GRCm39) |
L438Q |
probably damaging |
Het |
Oas1h |
A |
T |
5: 120,999,610 (GRCm39) |
I32F |
probably benign |
Het |
Oasl1 |
G |
A |
5: 115,075,241 (GRCm39) |
V434M |
probably damaging |
Het |
Or2a5 |
A |
G |
6: 42,874,263 (GRCm39) |
N293D |
probably damaging |
Het |
Or9s27 |
T |
C |
1: 92,516,925 (GRCm39) |
L291P |
probably damaging |
Het |
Pde2a |
C |
A |
7: 101,154,276 (GRCm39) |
H549Q |
probably damaging |
Het |
Phkb |
G |
T |
8: 86,662,101 (GRCm39) |
|
probably null |
Het |
Pigm |
T |
C |
1: 172,205,214 (GRCm39) |
C317R |
probably damaging |
Het |
Ppl |
A |
T |
16: 4,918,271 (GRCm39) |
S470R |
possibly damaging |
Het |
Pramel14 |
G |
A |
4: 143,720,669 (GRCm39) |
R91W |
probably benign |
Het |
Slc13a4 |
A |
T |
6: 35,245,775 (GRCm39) |
D623E |
probably benign |
Het |
Stx11 |
A |
G |
10: 12,817,359 (GRCm39) |
S122P |
possibly damaging |
Het |
Sytl3 |
A |
G |
17: 7,000,483 (GRCm39) |
T218A |
probably benign |
Het |
Tex14 |
T |
C |
11: 87,418,738 (GRCm39) |
|
probably null |
Het |
Tinag |
T |
C |
9: 76,938,995 (GRCm39) |
D161G |
probably benign |
Het |
Vcpip1 |
T |
C |
1: 9,795,011 (GRCm39) |
D1120G |
probably damaging |
Het |
Zfp446 |
G |
A |
7: 12,713,255 (GRCm39) |
A98T |
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 |
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 |
|
R5459:Tango6
|
UTSW |
8 |
107,576,921 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
Posted On |
2015-12-18 |