Incidental Mutation 'R6633:Tango6'
| ID |
525306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tango6
|
| Ensembl Gene |
ENSMUSG00000041949 |
| Gene Name |
transport and golgi organization 6 |
| Synonyms |
Tango6, Tmco7 |
| MMRRC Submission |
044755-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6633 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
107409700-107578071 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107444637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 514
(V514A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048359]
|
| AlphaFold |
Q8C3S2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048359
AA Change: V514A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000043953
Gene: ENSMUSG00000041949
AA Change: V514A
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
C |
A |
11: 84,402,308 (GRCm39) |
|
probably null |
Het |
| Acot7 |
C |
T |
4: 152,262,716 (GRCm39) |
P30L |
probably benign |
Het |
| Adam24 |
T |
G |
8: 41,133,526 (GRCm39) |
D331E |
probably benign |
Het |
| Adamdec1 |
T |
C |
14: 68,810,601 (GRCm39) |
D185G |
probably benign |
Het |
| Adgrg7 |
T |
C |
16: 56,550,649 (GRCm39) |
I688V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,716,762 (GRCm39) |
F779I |
probably damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,450 (GRCm39) |
I172V |
probably benign |
Het |
| Anapc4 |
C |
T |
5: 53,023,288 (GRCm39) |
H710Y |
possibly damaging |
Het |
| Arf1 |
T |
C |
11: 59,103,370 (GRCm39) |
N179S |
probably benign |
Het |
| Arhgef40 |
C |
T |
14: 52,234,888 (GRCm39) |
P1064S |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,604,305 (GRCm39) |
N362S |
possibly damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,915,271 (GRCm39) |
F9S |
possibly damaging |
Het |
| Ccdc96 |
G |
A |
5: 36,642,533 (GRCm39) |
E180K |
probably benign |
Het |
| Cdh2 |
A |
T |
18: 16,773,605 (GRCm39) |
N241K |
probably benign |
Het |
| Cdk8 |
C |
A |
5: 146,235,656 (GRCm39) |
S261* |
probably null |
Het |
| Csf2rb2 |
T |
C |
15: 78,173,152 (GRCm39) |
E236G |
probably benign |
Het |
| Dgcr8 |
A |
T |
16: 18,102,046 (GRCm39) |
S79T |
possibly damaging |
Het |
| Dnah5 |
A |
T |
15: 28,293,933 (GRCm39) |
Y1346F |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,731,627 (GRCm39) |
V1194A |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,732,799 (GRCm39) |
S1129P |
probably damaging |
Het |
| Ephb2 |
C |
G |
4: 136,411,307 (GRCm39) |
S451T |
probably benign |
Het |
| Esco1 |
T |
A |
18: 10,595,738 (GRCm39) |
|
probably benign |
Het |
| Fcer1a |
C |
G |
1: 173,054,293 (GRCm39) |
|
probably null |
Het |
| Gbx2 |
TCCCCC |
TCCCCCC |
1: 89,856,442 (GRCm39) |
|
probably null |
Het |
| Gm44511 |
T |
A |
6: 128,803,205 (GRCm39) |
D2V |
probably damaging |
Het |
| H2-Q2 |
A |
G |
17: 35,561,363 (GRCm39) |
T19A |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,346,534 (GRCm39) |
E1967* |
probably null |
Het |
| Hic1 |
G |
T |
11: 75,060,324 (GRCm39) |
H8N |
unknown |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Jarid2 |
C |
A |
13: 45,038,353 (GRCm39) |
H84N |
probably damaging |
Het |
| Klk1b27 |
A |
T |
7: 43,705,234 (GRCm39) |
I134F |
probably damaging |
Het |
| Kprp |
T |
C |
3: 92,732,600 (GRCm39) |
Y150C |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lrp10 |
T |
C |
14: 54,706,531 (GRCm39) |
V489A |
probably benign |
Het |
| Mrgpra6 |
A |
G |
7: 46,838,493 (GRCm39) |
I235T |
possibly damaging |
Het |
| Naip1 |
A |
G |
13: 100,559,584 (GRCm39) |
M1140T |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,593 (GRCm39) |
R1137Q |
probably benign |
Het |
| Or4c12 |
T |
C |
2: 89,773,710 (GRCm39) |
I250V |
probably benign |
Het |
| Plcl2 |
A |
G |
17: 50,947,168 (GRCm39) |
I1016V |
probably benign |
Het |
| Plekhb1 |
A |
G |
7: 100,294,846 (GRCm39) |
Y122H |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
| Ppp6r2 |
G |
A |
15: 89,137,458 (GRCm39) |
|
probably null |
Het |
| Rag1 |
T |
A |
2: 101,473,055 (GRCm39) |
R696W |
probably damaging |
Het |
| Rusc2 |
T |
C |
4: 43,414,852 (GRCm39) |
F53L |
probably damaging |
Het |
| Rxylt1 |
G |
A |
10: 121,932,958 (GRCm39) |
R7W |
probably damaging |
Het |
| Tex30 |
A |
C |
1: 44,127,084 (GRCm39) |
H64Q |
probably benign |
Het |
| Tmbim7 |
A |
G |
5: 3,707,659 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
A |
G |
5: 120,682,529 (GRCm39) |
M493T |
probably benign |
Het |
| Tpx2 |
T |
G |
2: 152,709,274 (GRCm39) |
F35V |
probably damaging |
Het |
| Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
| Wnt2b |
T |
C |
3: 104,858,372 (GRCm39) |
Y299C |
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 |
|
|
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 |
|
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'- TGTAAGATGCATGCTTCCCTGTC -3'
(R):5'- TGACTCACAGAACAGTGTCG -3'
Sequencing Primer
(F):5'- TTCCCTGTCGAGTGTCAGCAG -3'
(R):5'- GTCGTATAAAAACTTCTGTCAGGCG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation