Incidental Mutation 'R6466:Tigd5'
ID |
516600 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tigd5
|
Ensembl Gene |
ENSMUSG00000103906 |
Gene Name |
tigger transposable element derived 5 |
Synonyms |
FLJ14926 |
MMRRC Submission |
044599-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R6466 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
75781584-75786384 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75782352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 238
(Y238C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141473
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023235]
[ENSMUST00000089680]
[ENSMUST00000089681]
[ENSMUST00000109972]
[ENSMUST00000109975]
[ENSMUST00000116440]
[ENSMUST00000192937]
[ENSMUST00000144614]
[ENSMUST00000151066]
[ENSMUST00000145764]
[ENSMUST00000141475]
[ENSMUST00000154584]
[ENSMUST00000123712]
[ENSMUST00000141268]
|
AlphaFold |
Q499M4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023235
|
SMART Domains |
Protein: ENSMUSP00000023235 Gene: ENSMUSG00000055762
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
75 |
N/A |
INTRINSIC |
coiled coil region
|
82 |
120 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
159 |
186 |
2.53e-4 |
SMART |
Pfam:EF1_GNE
|
195 |
245 |
3.3e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000055220
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089680
|
SMART Domains |
Protein: ENSMUSP00000087109 Gene: ENSMUSG00000055762
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
70 |
N/A |
INTRINSIC |
coiled coil region
|
77 |
115 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
154 |
181 |
2.53e-4 |
SMART |
EF1_GNE
|
190 |
276 |
4.87e-41 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089681
|
SMART Domains |
Protein: ENSMUSP00000087110 Gene: ENSMUSG00000055762
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
52 |
N/A |
INTRINSIC |
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
internal_repeat_2
|
108 |
136 |
2.92e-5 |
PROSPERO |
low complexity region
|
137 |
156 |
N/A |
INTRINSIC |
internal_repeat_2
|
231 |
259 |
2.92e-5 |
PROSPERO |
internal_repeat_1
|
244 |
263 |
2.02e-6 |
PROSPERO |
internal_repeat_1
|
389 |
408 |
2.02e-6 |
PROSPERO |
low complexity region
|
441 |
454 |
N/A |
INTRINSIC |
coiled coil region
|
461 |
499 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
538 |
565 |
2.53e-4 |
SMART |
EF1_GNE
|
574 |
660 |
4.87e-41 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109972
|
SMART Domains |
Protein: ENSMUSP00000105599 Gene: ENSMUSG00000055762
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
coiled coil region
|
58 |
96 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
135 |
162 |
2.53e-4 |
SMART |
EF1_GNE
|
171 |
257 |
4.87e-41 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109975
|
SMART Domains |
Protein: ENSMUSP00000105602 Gene: ENSMUSG00000055762
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
52 |
N/A |
INTRINSIC |
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
internal_repeat_2
|
108 |
136 |
2.92e-5 |
PROSPERO |
low complexity region
|
137 |
156 |
N/A |
INTRINSIC |
internal_repeat_2
|
231 |
259 |
2.92e-5 |
PROSPERO |
internal_repeat_1
|
244 |
263 |
2.02e-6 |
PROSPERO |
internal_repeat_1
|
389 |
408 |
2.02e-6 |
PROSPERO |
low complexity region
|
441 |
454 |
N/A |
INTRINSIC |
coiled coil region
|
461 |
499 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
538 |
565 |
2.53e-4 |
SMART |
EF1_GNE
|
574 |
660 |
4.87e-41 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116440
|
SMART Domains |
Protein: ENSMUSP00000112141 Gene: ENSMUSG00000055762
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
coiled coil region
|
58 |
96 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
135 |
162 |
2.53e-4 |
SMART |
EF1_GNE
|
171 |
257 |
4.87e-41 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192937
AA Change: Y238C
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141473 Gene: ENSMUSG00000103906 AA Change: Y238C
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
Pfam:CENP-B_N
|
63 |
112 |
1.6e-10 |
PFAM |
CENPB
|
128 |
195 |
1.41e-13 |
SMART |
Pfam:DDE_1
|
238 |
377 |
8.2e-21 |
PFAM |
low complexity region
|
554 |
567 |
N/A |
INTRINSIC |
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144614
|
SMART Domains |
Protein: ENSMUSP00000123005 Gene: ENSMUSG00000055762
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
75 |
N/A |
INTRINSIC |
coiled coil region
|
82 |
120 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
159 |
186 |
2.53e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151066
|
SMART Domains |
Protein: ENSMUSP00000118889 Gene: ENSMUSG00000055762
Domain | Start | End | E-Value | Type |
EF-1_beta_acid
|
68 |
95 |
2.53e-4 |
SMART |
EF1_GNE
|
104 |
190 |
4.87e-41 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145764
|
SMART Domains |
Protein: ENSMUSP00000117782 Gene: ENSMUSG00000055762
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
52 |
N/A |
INTRINSIC |
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141475
|
SMART Domains |
Protein: ENSMUSP00000123388 Gene: ENSMUSG00000055762
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
52 |
N/A |
INTRINSIC |
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
internal_repeat_1
|
122 |
136 |
7.17e-5 |
PROSPERO |
low complexity region
|
137 |
156 |
N/A |
INTRINSIC |
internal_repeat_1
|
174 |
188 |
7.17e-5 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154584
|
SMART Domains |
Protein: ENSMUSP00000116360 Gene: ENSMUSG00000055762
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
75 |
N/A |
INTRINSIC |
coiled coil region
|
82 |
120 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
159 |
186 |
1.2e-8 |
SMART |
EF1_GNE
|
195 |
280 |
4.9e-41 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123712
|
SMART Domains |
Protein: ENSMUSP00000122155 Gene: ENSMUSG00000055762
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
coiled coil region
|
58 |
96 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141268
|
SMART Domains |
Protein: ENSMUSP00000115553 Gene: ENSMUSG00000055762
Domain | Start | End | E-Value | Type |
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
coiled coil region
|
101 |
139 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
178 |
205 |
2.53e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.1%
|
Validation Efficiency |
98% (56/57) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1190005I06Rik |
A |
T |
8: 121,335,735 (GRCm39) |
D69E |
probably damaging |
Het |
AAdacl4fm3 |
T |
A |
4: 144,430,437 (GRCm39) |
D184V |
probably damaging |
Het |
Adgrv1 |
G |
T |
13: 81,723,220 (GRCm39) |
|
probably null |
Het |
Ahr |
A |
T |
12: 35,554,031 (GRCm39) |
V696E |
probably benign |
Het |
Akap13 |
A |
G |
7: 75,376,792 (GRCm39) |
T2007A |
probably benign |
Het |
Arid1b |
T |
C |
17: 5,377,953 (GRCm39) |
F753S |
probably damaging |
Het |
Bpifb3 |
G |
T |
2: 153,764,108 (GRCm39) |
K105N |
probably damaging |
Het |
C2cd2 |
A |
G |
16: 97,680,822 (GRCm39) |
C331R |
probably benign |
Het |
Chrm1 |
T |
A |
19: 8,655,542 (GRCm39) |
Y82* |
probably null |
Het |
Clcn3 |
A |
C |
8: 61,382,595 (GRCm39) |
V331G |
probably damaging |
Het |
Dchs1 |
A |
T |
7: 105,413,748 (GRCm39) |
D1022E |
probably benign |
Het |
Dnah2 |
T |
A |
11: 69,430,241 (GRCm39) |
T106S |
probably benign |
Het |
Fam171a2 |
T |
A |
11: 102,330,711 (GRCm39) |
D256V |
probably damaging |
Het |
Firrm |
G |
T |
1: 163,781,734 (GRCm39) |
R898S |
probably benign |
Het |
Fmn2 |
T |
A |
1: 174,437,149 (GRCm39) |
|
probably benign |
Het |
Fut11 |
C |
T |
14: 20,745,377 (GRCm39) |
R103W |
probably damaging |
Het |
Gas2l2 |
A |
C |
11: 83,320,179 (GRCm39) |
S26A |
probably damaging |
Het |
Gramd1a |
A |
T |
7: 30,843,221 (GRCm39) |
I29N |
probably benign |
Het |
Grem2 |
A |
G |
1: 174,664,450 (GRCm39) |
V133A |
probably damaging |
Het |
Hydin |
T |
A |
8: 111,233,600 (GRCm39) |
S1813T |
possibly damaging |
Het |
Igkv3-2 |
T |
C |
6: 70,676,023 (GRCm39) |
F111L |
probably benign |
Het |
Ints8 |
T |
C |
4: 11,252,878 (GRCm39) |
Q68R |
probably damaging |
Het |
Irx5 |
A |
G |
8: 93,086,354 (GRCm39) |
I146V |
probably damaging |
Het |
Kcnh3 |
T |
C |
15: 99,136,124 (GRCm39) |
L707P |
probably damaging |
Het |
Kcnk4 |
T |
A |
19: 6,905,665 (GRCm39) |
I101F |
probably damaging |
Het |
Klhl9 |
A |
G |
4: 88,639,399 (GRCm39) |
Y281H |
probably benign |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Lmbr1 |
C |
T |
5: 29,583,166 (GRCm39) |
A9T |
probably benign |
Het |
Map10 |
G |
T |
8: 126,399,123 (GRCm39) |
E839* |
probably null |
Het |
Nectin4 |
C |
A |
1: 171,214,321 (GRCm39) |
A492D |
probably damaging |
Het |
Nfat5 |
T |
A |
8: 108,082,140 (GRCm39) |
|
probably null |
Het |
Or5p5 |
A |
G |
7: 107,413,901 (GRCm39) |
T37A |
probably benign |
Het |
Plec |
A |
G |
15: 76,062,084 (GRCm39) |
Y2608H |
probably benign |
Het |
Pold3 |
A |
G |
7: 99,749,839 (GRCm39) |
S42P |
probably benign |
Het |
Ppp2r1a |
G |
T |
17: 21,180,893 (GRCm39) |
G432* |
probably null |
Het |
Qki |
T |
C |
17: 10,434,394 (GRCm39) |
E315G |
probably benign |
Het |
Rfx2 |
C |
T |
17: 57,091,397 (GRCm39) |
V354I |
probably benign |
Het |
Rp1 |
T |
C |
1: 4,418,109 (GRCm39) |
Y1001C |
probably benign |
Het |
Sez6l |
A |
G |
5: 112,609,007 (GRCm39) |
|
probably null |
Het |
Slc39a14 |
A |
G |
14: 70,547,335 (GRCm39) |
I337T |
probably damaging |
Het |
Slc3a2 |
G |
T |
19: 8,686,683 (GRCm39) |
L76M |
probably damaging |
Het |
Slco1a5 |
T |
C |
6: 142,183,260 (GRCm39) |
T555A |
probably benign |
Het |
Sprr2e |
A |
T |
3: 92,260,341 (GRCm39) |
K57N |
unknown |
Het |
Syne2 |
A |
G |
12: 75,990,675 (GRCm39) |
T1886A |
probably damaging |
Het |
Tenm3 |
A |
T |
8: 48,689,098 (GRCm39) |
I2147N |
probably damaging |
Het |
Thbs1 |
G |
T |
2: 117,950,328 (GRCm39) |
G654W |
probably damaging |
Het |
Tmem221 |
A |
G |
8: 72,010,493 (GRCm39) |
F126S |
probably damaging |
Het |
Trp63 |
C |
A |
16: 25,582,108 (GRCm39) |
P52Q |
probably damaging |
Het |
Ugp2 |
A |
T |
11: 21,278,883 (GRCm39) |
S434R |
probably benign |
Het |
Vmn2r69 |
A |
C |
7: 85,056,378 (GRCm39) |
F587V |
probably benign |
Het |
Vps13d |
T |
A |
4: 144,784,065 (GRCm39) |
N3872I |
possibly damaging |
Het |
Wdfy2 |
A |
G |
14: 63,186,115 (GRCm39) |
Y250C |
probably damaging |
Het |
Zbtb16 |
T |
C |
9: 48,576,619 (GRCm39) |
D487G |
possibly damaging |
Het |
|
Other mutations in Tigd5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R4516:Tigd5
|
UTSW |
15 |
75,782,364 (GRCm39) |
nonsense |
probably null |
|
R4905:Tigd5
|
UTSW |
15 |
75,783,252 (GRCm39) |
missense |
probably damaging |
0.99 |
R5579:Tigd5
|
UTSW |
15 |
75,782,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R6146:Tigd5
|
UTSW |
15 |
75,782,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R6253:Tigd5
|
UTSW |
15 |
75,782,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R6278:Tigd5
|
UTSW |
15 |
75,781,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R6452:Tigd5
|
UTSW |
15 |
75,783,287 (GRCm39) |
nonsense |
probably null |
|
R6533:Tigd5
|
UTSW |
15 |
75,782,039 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7084:Tigd5
|
UTSW |
15 |
75,782,230 (GRCm39) |
nonsense |
probably null |
|
R7473:Tigd5
|
UTSW |
15 |
75,781,748 (GRCm39) |
missense |
probably benign |
|
R7510:Tigd5
|
UTSW |
15 |
75,782,268 (GRCm39) |
missense |
probably benign |
0.28 |
R8372:Tigd5
|
UTSW |
15 |
75,782,337 (GRCm39) |
missense |
probably benign |
0.02 |
R8891:Tigd5
|
UTSW |
15 |
75,783,069 (GRCm39) |
missense |
possibly damaging |
0.92 |
Z1176:Tigd5
|
UTSW |
15 |
75,782,803 (GRCm39) |
missense |
probably benign |
0.13 |
Z1177:Tigd5
|
UTSW |
15 |
75,783,351 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Predicted Primers |
PCR Primer
(F):5'- CGAGTGTACCTTCAAGGCTAGC -3'
(R):5'- TAGCTGCCCGATGACTAGTG -3'
Sequencing Primer
(F):5'- TACCTTCAAGGCTAGCCACGG -3'
(R):5'- CCCGATGACTAGTGGTTTCAGC -3'
|
Posted On |
2018-05-21 |