Incidental Mutation 'R2440:Tigd2'
| ID |
266161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tigd2
|
| Ensembl Gene |
ENSMUSG00000049232 |
| Gene Name |
tigger transposable element derived 2 |
| Synonyms |
3632410O17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R2440 (G1)
|
| Quality Score |
118 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
59185855-59189018 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to G
at 59186980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062626]
|
| AlphaFold |
Q0VBL1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062626
|
| SMART Domains |
Protein: ENSMUSP00000057223
Gene: ENSMUSG00000049232
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-B_N
|
4 |
54 |
6e-17 |
PFAM |
|
CENPB
|
73 |
139 |
5.78e-19 |
SMART |
|
Pfam:DDE_1
|
206 |
385 |
2.2e-52 |
PFAM |
|
low complexity region
|
504 |
519 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
C |
15: 59,888,129 (GRCm39) |
T104A |
probably benign |
Het |
| Adar |
A |
G |
3: 89,642,161 (GRCm39) |
H14R |
possibly damaging |
Het |
| Albfm1 |
A |
G |
5: 90,720,548 (GRCm39) |
|
probably null |
Het |
| Alcam |
T |
A |
16: 52,125,976 (GRCm39) |
M114L |
probably damaging |
Het |
| Ccn4 |
T |
A |
15: 66,784,706 (GRCm39) |
D126E |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,171,960 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Coch |
T |
C |
12: 51,643,345 (GRCm39) |
S122P |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,864,738 (GRCm39) |
K247E |
probably benign |
Het |
| Gm1527 |
A |
G |
3: 28,949,764 (GRCm39) |
D8G |
probably damaging |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Itga8 |
G |
A |
2: 12,183,491 (GRCm39) |
T751I |
possibly damaging |
Het |
| Kif5a |
A |
G |
10: 127,067,205 (GRCm39) |
V904A |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,492,321 (GRCm39) |
E269G |
probably benign |
Het |
| Or12j5 |
T |
A |
7: 140,083,465 (GRCm39) |
K302N |
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,063,731 (GRCm39) |
|
probably benign |
Het |
| Rita1 |
T |
C |
5: 120,748,004 (GRCm39) |
Y98C |
probably damaging |
Het |
| Surf1 |
A |
G |
2: 26,803,919 (GRCm39) |
|
probably null |
Het |
| Sv2c |
A |
G |
13: 96,185,084 (GRCm39) |
Y198H |
probably damaging |
Het |
| Svs3a |
T |
C |
2: 164,131,551 (GRCm39) |
F41L |
possibly damaging |
Het |
| Tubb4a |
C |
A |
17: 57,393,285 (GRCm39) |
G38W |
probably damaging |
Het |
| Tyrp1 |
G |
A |
4: 80,764,843 (GRCm39) |
V7I |
probably benign |
Het |
| Unc45a |
A |
G |
7: 79,978,805 (GRCm39) |
Y615H |
probably damaging |
Het |
|
| Other mutations in Tigd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02304:Tigd2
|
APN |
6 |
59,188,683 (GRCm39) |
nonsense |
probably null |
|
|
IGL03356:Tigd2
|
APN |
6 |
59,188,690 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT1430001:Tigd2
|
UTSW |
6 |
59,188,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0048:Tigd2
|
UTSW |
6 |
59,188,369 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0387:Tigd2
|
UTSW |
6 |
59,188,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0523:Tigd2
|
UTSW |
6 |
59,187,358 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0636:Tigd2
|
UTSW |
6 |
59,188,272 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1171:Tigd2
|
UTSW |
6 |
59,188,361 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4327:Tigd2
|
UTSW |
6 |
59,187,562 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4731:Tigd2
|
UTSW |
6 |
59,188,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4732:Tigd2
|
UTSW |
6 |
59,188,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4733:Tigd2
|
UTSW |
6 |
59,188,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5005:Tigd2
|
UTSW |
6 |
59,188,131 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5028:Tigd2
|
UTSW |
6 |
59,188,205 (GRCm39) |
nonsense |
probably null |
|
|
R5248:Tigd2
|
UTSW |
6 |
59,188,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6006:Tigd2
|
UTSW |
6 |
59,187,762 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R7099:Tigd2
|
UTSW |
6 |
59,187,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Tigd2
|
UTSW |
6 |
59,188,052 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7553:Tigd2
|
UTSW |
6 |
59,188,564 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7688:Tigd2
|
UTSW |
6 |
59,187,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8002:Tigd2
|
UTSW |
6 |
59,187,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8734:Tigd2
|
UTSW |
6 |
59,187,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9007:Tigd2
|
UTSW |
6 |
59,187,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9095:Tigd2
|
UTSW |
6 |
59,187,509 (GRCm39) |
nonsense |
probably null |
|
|
R9143:Tigd2
|
UTSW |
6 |
59,188,310 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1177:Tigd2
|
UTSW |
6 |
59,188,515 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2015-02-05 |
Incidental Mutation