Incidental Mutation 'IGL01977:Tnks2'
| ID |
181746 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnks2
|
| Ensembl Gene |
ENSMUSG00000024811 |
| Gene Name |
tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 |
| Synonyms |
5430432P15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01977
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
36811632-36870877 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 36849990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025729]
[ENSMUST00000164665]
[ENSMUST00000167724]
|
| AlphaFold |
Q3UES3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025729
|
| SMART Domains |
Protein: ENSMUSP00000025729
Gene: ENSMUSG00000024811
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
ANK
|
57 |
86 |
8.07e-5 |
SMART |
|
ANK
|
90 |
119 |
1.78e-6 |
SMART |
|
ANK
|
123 |
152 |
6.46e-4 |
SMART |
|
ANK
|
210 |
239 |
1.76e-5 |
SMART |
|
ANK
|
243 |
272 |
3.91e-3 |
SMART |
|
ANK
|
276 |
305 |
3.23e-4 |
SMART |
|
ANK
|
363 |
395 |
1.57e-2 |
SMART |
|
ANK
|
399 |
428 |
4.5e-3 |
SMART |
|
ANK
|
432 |
461 |
4.89e-4 |
SMART |
|
ANK
|
525 |
554 |
1.43e-5 |
SMART |
|
ANK
|
558 |
587 |
6.55e-5 |
SMART |
|
ANK
|
591 |
620 |
1.24e-5 |
SMART |
|
low complexity region
|
641 |
659 |
N/A |
INTRINSIC |
|
ANK
|
678 |
707 |
1.69e-7 |
SMART |
|
ANK
|
711 |
740 |
3.65e-3 |
SMART |
|
ANK
|
744 |
773 |
3.36e-2 |
SMART |
|
low complexity region
|
822 |
863 |
N/A |
INTRINSIC |
|
SAM
|
870 |
936 |
1.03e-10 |
SMART |
|
Pfam:PARP
|
952 |
1157 |
4.9e-28 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000164665
|
| SMART Domains |
Protein: ENSMUSP00000132440
Gene: ENSMUSG00000024811
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
3 |
32 |
6.55e-5 |
SMART |
|
ANK
|
36 |
65 |
1.24e-5 |
SMART |
|
low complexity region
|
86 |
104 |
N/A |
INTRINSIC |
|
ANK
|
123 |
152 |
1.69e-7 |
SMART |
|
ANK
|
156 |
185 |
9.05e2 |
SMART |
|
low complexity region
|
204 |
245 |
N/A |
INTRINSIC |
|
SAM
|
252 |
318 |
1.03e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167724
|
| SMART Domains |
Protein: ENSMUSP00000126888
Gene: ENSMUSG00000024811
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
84 |
113 |
4.89e-4 |
SMART |
|
Blast:ANK
|
143 |
171 |
9e-10 |
BLAST |
|
ANK
|
177 |
206 |
1.43e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele are viable but display decreased body weight and abnormal adipocyte glucose uptake in response to insulin stimulation. Mice homozygous for a different null allele show partial postnatal lethality as well as decreased body weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,841,986 (GRCm39) |
S1040T |
probably benign |
Het |
| Adam25 |
T |
C |
8: 41,208,134 (GRCm39) |
Y467H |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,605,449 (GRCm39) |
I1061V |
probably benign |
Het |
| Anxa10 |
T |
C |
8: 62,529,348 (GRCm39) |
E123G |
probably damaging |
Het |
| Arhgap35 |
G |
A |
7: 16,297,128 (GRCm39) |
L646F |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,320,590 (GRCm39) |
|
probably null |
Het |
| Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,730,993 (GRCm39) |
T87A |
probably damaging |
Het |
| Ccdc172 |
A |
G |
19: 58,541,309 (GRCm39) |
D256G |
possibly damaging |
Het |
| Cep350 |
C |
T |
1: 155,787,714 (GRCm39) |
A1375T |
probably benign |
Het |
| Chrdl2 |
A |
T |
7: 99,671,263 (GRCm39) |
Q127L |
probably benign |
Het |
| Cyp2c29 |
T |
C |
19: 39,279,341 (GRCm39) |
|
probably benign |
Het |
| Ddi1 |
C |
A |
9: 6,266,226 (GRCm39) |
V48F |
probably benign |
Het |
| Ddrgk1 |
C |
T |
2: 130,497,166 (GRCm39) |
|
probably benign |
Het |
| Fastkd1 |
C |
T |
2: 69,524,932 (GRCm39) |
V626I |
possibly damaging |
Het |
| Fgd5 |
A |
G |
6: 92,001,543 (GRCm39) |
T755A |
probably benign |
Het |
| Fpgt |
G |
T |
3: 154,793,655 (GRCm39) |
T124K |
probably damaging |
Het |
| Gnl2 |
G |
A |
4: 124,941,405 (GRCm39) |
|
probably null |
Het |
| Got1 |
A |
T |
19: 43,504,284 (GRCm39) |
S46T |
probably benign |
Het |
| Hbb-bt |
G |
T |
7: 103,463,070 (GRCm39) |
H3N |
probably benign |
Het |
| Ikbke |
C |
T |
1: 131,199,838 (GRCm39) |
|
probably benign |
Het |
| Il2rb |
A |
G |
15: 78,365,897 (GRCm39) |
S467P |
probably benign |
Het |
| Kcnma1 |
A |
G |
14: 23,580,367 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,876,973 (GRCm39) |
N391D |
probably damaging |
Het |
| Npr3 |
A |
T |
15: 11,858,804 (GRCm39) |
I360N |
probably damaging |
Het |
| Nradd |
G |
A |
9: 110,451,237 (GRCm39) |
P44S |
possibly damaging |
Het |
| Or5m10 |
G |
T |
2: 85,717,711 (GRCm39) |
C189F |
probably damaging |
Het |
| Or7h8 |
G |
A |
9: 20,123,755 (GRCm39) |
V37I |
possibly damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,770,537 (GRCm39) |
E1005G |
possibly damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,344 (GRCm39) |
T225A |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,604,821 (GRCm39) |
D454G |
probably benign |
Het |
| Pon3 |
T |
C |
6: 5,221,670 (GRCm39) |
Y320C |
probably damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,990,261 (GRCm39) |
D70G |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,260,472 (GRCm39) |
T218S |
probably benign |
Het |
| Proz |
G |
T |
8: 13,116,913 (GRCm39) |
G155V |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,286,977 (GRCm39) |
E392G |
possibly damaging |
Het |
| Rab3gap2 |
C |
T |
1: 184,999,220 (GRCm39) |
R976* |
probably null |
Het |
| Shisa2 |
G |
A |
14: 59,867,435 (GRCm39) |
C229Y |
probably damaging |
Het |
| Slc2a5 |
T |
C |
4: 150,226,675 (GRCm39) |
V379A |
probably damaging |
Het |
| Slc31a2 |
A |
T |
4: 62,214,197 (GRCm39) |
K47N |
probably damaging |
Het |
| Sult2a6 |
G |
A |
7: 13,987,411 (GRCm39) |
T88I |
probably benign |
Het |
| Tbc1d14 |
T |
C |
5: 36,662,381 (GRCm39) |
Y302C |
probably damaging |
Het |
| Thumpd3 |
C |
A |
6: 113,036,927 (GRCm39) |
N275K |
possibly damaging |
Het |
| Tube1 |
G |
A |
10: 39,011,041 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
T |
A |
17: 31,192,742 (GRCm39) |
Y290N |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,402,661 (GRCm39) |
E726K |
probably damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,229,935 (GRCm39) |
D59V |
probably benign |
Het |
| Vps11 |
T |
A |
9: 44,267,516 (GRCm39) |
|
probably benign |
Het |
| Wdr19 |
T |
C |
5: 65,385,912 (GRCm39) |
Y631H |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,957,526 (GRCm39) |
H88Y |
probably damaging |
Het |
| Wdr93 |
A |
T |
7: 79,402,253 (GRCm39) |
N184I |
probably damaging |
Het |
| Wnk4 |
T |
A |
11: 101,156,240 (GRCm39) |
F473Y |
probably damaging |
Het |
| Zbtb16 |
A |
G |
9: 48,568,483 (GRCm39) |
W661R |
probably damaging |
Het |
|
| Other mutations in Tnks2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01325:Tnks2
|
APN |
19 |
36,849,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02389:Tnks2
|
APN |
19 |
36,861,503 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02653:Tnks2
|
APN |
19 |
36,849,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02678:Tnks2
|
APN |
19 |
36,823,143 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0053:Tnks2
|
UTSW |
19 |
36,852,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Tnks2
|
UTSW |
19 |
36,852,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Tnks2
|
UTSW |
19 |
36,830,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0436:Tnks2
|
UTSW |
19 |
36,826,758 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0591:Tnks2
|
UTSW |
19 |
36,849,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0648:Tnks2
|
UTSW |
19 |
36,839,474 (GRCm39) |
splice site |
probably null |
|
|
R0894:Tnks2
|
UTSW |
19 |
36,867,450 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1397:Tnks2
|
UTSW |
19 |
36,857,901 (GRCm39) |
splice site |
probably benign |
|
|
R1459:Tnks2
|
UTSW |
19 |
36,822,931 (GRCm39) |
splice site |
probably benign |
|
|
R1674:Tnks2
|
UTSW |
19 |
36,849,022 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1742:Tnks2
|
UTSW |
19 |
36,853,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Tnks2
|
UTSW |
19 |
36,823,068 (GRCm39) |
nonsense |
probably null |
|
|
R2025:Tnks2
|
UTSW |
19 |
36,843,466 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2898:Tnks2
|
UTSW |
19 |
36,849,990 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4422:Tnks2
|
UTSW |
19 |
36,823,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4676:Tnks2
|
UTSW |
19 |
36,852,671 (GRCm39) |
nonsense |
probably null |
|
|
R5202:Tnks2
|
UTSW |
19 |
36,866,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5357:Tnks2
|
UTSW |
19 |
36,826,690 (GRCm39) |
splice site |
silent |
|
|
R5467:Tnks2
|
UTSW |
19 |
36,859,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5550:Tnks2
|
UTSW |
19 |
36,839,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6119:Tnks2
|
UTSW |
19 |
36,856,752 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6219:Tnks2
|
UTSW |
19 |
36,843,604 (GRCm39) |
intron |
probably benign |
|
|
R7270:Tnks2
|
UTSW |
19 |
36,836,545 (GRCm39) |
missense |
|
|
|
R7309:Tnks2
|
UTSW |
19 |
36,829,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Tnks2
|
UTSW |
19 |
36,856,839 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7516:Tnks2
|
UTSW |
19 |
36,849,064 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7823:Tnks2
|
UTSW |
19 |
36,829,954 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7951:Tnks2
|
UTSW |
19 |
36,839,555 (GRCm39) |
missense |
|
|
|
R7961:Tnks2
|
UTSW |
19 |
36,829,901 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8009:Tnks2
|
UTSW |
19 |
36,829,901 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8193:Tnks2
|
UTSW |
19 |
36,832,353 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8919:Tnks2
|
UTSW |
19 |
36,823,088 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9329:Tnks2
|
UTSW |
19 |
36,835,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tnks2
|
UTSW |
19 |
36,866,280 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1177:Tnks2
|
UTSW |
19 |
36,811,977 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Posted On |
2014-05-07 |
Incidental Mutation