Incidental Mutation 'R4463:Tango6'
| ID |
330228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tango6
|
| Ensembl Gene |
ENSMUSG00000041949 |
| Gene Name |
transport and golgi organization 6 |
| Synonyms |
Tango6, Tmco7 |
| MMRRC Submission |
041721-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4463 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
107409700-107578071 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107415706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 176
(T176S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048359]
[ENSMUST00000211979]
|
| AlphaFold |
Q8C3S2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048359
AA Change: T176S
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000043953
Gene: ENSMUSG00000041949
AA Change: T176S
| 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 |
probably benign
Transcript: ENSMUST00000211979
AA Change: T176S
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212764
|
| Meta Mutation Damage Score |
0.1467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
C |
5: 8,769,981 (GRCm39) |
|
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,756,005 (GRCm39) |
|
probably null |
Het |
| Alox12e |
A |
G |
11: 70,209,082 (GRCm39) |
L388P |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,382,748 (GRCm39) |
S27T |
possibly damaging |
Het |
| Capn2 |
G |
A |
1: 182,307,329 (GRCm39) |
|
probably benign |
Het |
| Catspere1 |
G |
A |
1: 177,765,279 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc158 |
T |
C |
5: 92,782,159 (GRCm39) |
D820G |
probably null |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,705,627 (GRCm39) |
D761E |
probably benign |
Het |
| Chst8 |
T |
C |
7: 34,374,645 (GRCm39) |
D398G |
probably damaging |
Het |
| Clns1a |
T |
C |
7: 97,370,156 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,318,084 (GRCm39) |
Y355F |
probably damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,846,710 (GRCm39) |
|
probably null |
Het |
| Eif1ad11 |
A |
G |
12: 87,994,129 (GRCm39) |
D119G |
probably benign |
Het |
| Eipr1 |
G |
A |
12: 28,909,338 (GRCm39) |
A202T |
probably damaging |
Het |
| Fam83a |
T |
C |
15: 57,858,655 (GRCm39) |
S232P |
probably damaging |
Het |
| Fastkd2 |
C |
T |
1: 63,774,968 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,850,144 (GRCm39) |
M1197V |
probably benign |
Het |
| Fgfr4 |
G |
A |
13: 55,304,280 (GRCm39) |
V107I |
probably benign |
Het |
| Gatad1 |
G |
T |
5: 3,697,404 (GRCm39) |
S72R |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,763,738 (GRCm39) |
D1471G |
probably damaging |
Het |
| Gm1330 |
A |
T |
2: 148,845,064 (GRCm39) |
Y36* |
probably null |
Het |
| Gm29125 |
T |
C |
1: 80,360,903 (GRCm39) |
|
noncoding transcript |
Het |
| Idi1 |
G |
A |
13: 8,937,508 (GRCm39) |
|
probably benign |
Het |
| Itgbl1 |
C |
T |
14: 124,078,080 (GRCm39) |
T190I |
probably damaging |
Het |
| Kbtbd3 |
G |
A |
9: 4,331,257 (GRCm39) |
G544R |
probably damaging |
Het |
| Kifc3 |
T |
C |
8: 95,828,744 (GRCm39) |
T638A |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,068,695 (GRCm39) |
C798Y |
probably damaging |
Het |
| Larp6 |
C |
A |
9: 60,644,279 (GRCm39) |
H140N |
probably damaging |
Het |
| Mctp1 |
A |
T |
13: 76,860,206 (GRCm39) |
D108V |
probably damaging |
Het |
| Myzap |
G |
T |
9: 71,462,933 (GRCm39) |
D204E |
probably benign |
Het |
| Neb |
GCC |
GC |
2: 52,169,734 (GRCm39) |
|
probably null |
Het |
| Or13p8 |
T |
C |
4: 118,583,855 (GRCm39) |
V137A |
probably benign |
Het |
| Or1j20 |
T |
C |
2: 36,760,205 (GRCm39) |
I209T |
probably benign |
Het |
| Or4c102 |
T |
C |
2: 88,422,976 (GRCm39) |
V276A |
possibly damaging |
Het |
| Phka1 |
A |
G |
X: 101,588,990 (GRCm39) |
V818A |
probably benign |
Het |
| Plek |
T |
C |
11: 16,931,873 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Pp2d1 |
A |
G |
17: 53,822,886 (GRCm39) |
I60T |
probably benign |
Het |
| Prmt3 |
T |
C |
7: 49,467,837 (GRCm39) |
Y348H |
probably damaging |
Het |
| Psg27 |
G |
T |
7: 18,291,010 (GRCm39) |
Q398K |
possibly damaging |
Het |
| Raver1 |
T |
C |
9: 21,003,123 (GRCm39) |
T51A |
probably benign |
Het |
| Ripk2 |
T |
C |
4: 16,151,968 (GRCm39) |
N197S |
possibly damaging |
Het |
| Sectm1a |
T |
A |
11: 120,960,477 (GRCm39) |
I113L |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
| Snph |
A |
T |
2: 151,436,035 (GRCm39) |
S229T |
probably damaging |
Het |
| Stpg4 |
A |
G |
17: 87,697,101 (GRCm39) |
F183L |
probably benign |
Het |
| Vmn1r196 |
A |
G |
13: 22,477,853 (GRCm39) |
Q164R |
probably benign |
Het |
| Vstm4 |
T |
A |
14: 32,639,833 (GRCm39) |
L236Q |
probably damaging |
Het |
| Xylb |
A |
G |
9: 119,215,433 (GRCm39) |
D462G |
probably benign |
Het |
| Zc2hc1c |
A |
G |
12: 85,337,071 (GRCm39) |
R243G |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTGTCTGAAGGAAGTCC -3'
(R):5'- TTTGGTTGGGCAGAATCCC -3'
Sequencing Primer
(F):5'- CGTAGCTGATTTCAATCCTGGC -3'
(R):5'- GCAGAATCCCAGCTGGCAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation