Incidental Mutation 'IGL01325:Tnks2'
ID |
74217 |
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 # |
IGL01325
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
36811632-36870877 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36849033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 516
(S516R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025729
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025729]
[ENSMUST00000164665]
[ENSMUST00000167724]
|
AlphaFold |
Q3UES3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025729
AA Change: S516R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000025729 Gene: ENSMUSG00000024811 AA Change: S516R
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 benign
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
AA Change: S168R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000126888 Gene: ENSMUSG00000024811 AA Change: S168R
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
T |
C |
13: 61,001,347 (GRCm39) |
T127A |
probably damaging |
Het |
Acrv1 |
T |
A |
9: 36,609,810 (GRCm39) |
M227K |
probably benign |
Het |
Adam22 |
T |
C |
5: 8,177,333 (GRCm39) |
N592S |
probably benign |
Het |
Adamts15 |
T |
A |
9: 30,832,984 (GRCm39) |
I184F |
possibly damaging |
Het |
Adcy1 |
T |
C |
11: 7,014,102 (GRCm39) |
V168A |
possibly damaging |
Het |
Arl6ip5 |
T |
C |
6: 97,209,501 (GRCm39) |
F179L |
probably benign |
Het |
Asxl2 |
G |
T |
12: 3,477,172 (GRCm39) |
R6L |
probably damaging |
Het |
Btaf1 |
T |
A |
19: 36,982,049 (GRCm39) |
|
probably benign |
Het |
Ccdc136 |
T |
C |
6: 29,412,949 (GRCm39) |
F445L |
probably benign |
Het |
Cpne3 |
T |
C |
4: 19,535,229 (GRCm39) |
S268G |
probably benign |
Het |
Crtc3 |
C |
T |
7: 80,327,116 (GRCm39) |
R70Q |
probably damaging |
Het |
Fam169a |
C |
A |
13: 97,259,207 (GRCm39) |
A421E |
probably benign |
Het |
Fhod1 |
A |
T |
8: 106,058,281 (GRCm39) |
M825K |
probably benign |
Het |
Gjb2 |
T |
C |
14: 57,337,678 (GRCm39) |
T177A |
probably benign |
Het |
Gm6576 |
A |
G |
15: 27,025,970 (GRCm39) |
|
noncoding transcript |
Het |
Herpud2 |
A |
G |
9: 25,025,207 (GRCm39) |
V175A |
probably benign |
Het |
Hmgxb3 |
T |
C |
18: 61,267,078 (GRCm39) |
D1052G |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,358,169 (GRCm39) |
F578L |
probably benign |
Het |
Kdm7a |
T |
G |
6: 39,135,243 (GRCm39) |
|
probably benign |
Het |
Krt76 |
A |
T |
15: 101,793,323 (GRCm39) |
S572T |
unknown |
Het |
Lrrcc1 |
T |
C |
3: 14,601,601 (GRCm39) |
|
probably null |
Het |
Marchf9 |
A |
C |
10: 126,893,459 (GRCm39) |
V183G |
probably damaging |
Het |
Mrtfb |
T |
C |
16: 13,219,088 (GRCm39) |
V578A |
probably damaging |
Het |
Ndufaf6 |
A |
T |
4: 11,070,251 (GRCm39) |
D123E |
probably benign |
Het |
Nhlh2 |
T |
G |
3: 101,920,342 (GRCm39) |
Y125D |
probably damaging |
Het |
Nol4l |
A |
G |
2: 153,278,271 (GRCm39) |
|
probably benign |
Het |
Npas1 |
C |
T |
7: 16,197,247 (GRCm39) |
G206D |
probably benign |
Het |
Or52h9 |
T |
C |
7: 104,202,896 (GRCm39) |
F257L |
probably damaging |
Het |
Or5ak24 |
C |
A |
2: 85,260,639 (GRCm39) |
C178F |
possibly damaging |
Het |
Pcdhb4 |
T |
A |
18: 37,442,676 (GRCm39) |
V662E |
probably damaging |
Het |
Plxna3 |
G |
A |
X: 73,379,400 (GRCm39) |
G758S |
probably damaging |
Het |
Prdm15 |
T |
A |
16: 97,607,717 (GRCm39) |
N709Y |
probably damaging |
Het |
Pygo2 |
C |
T |
3: 89,339,753 (GRCm39) |
|
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,312,120 (GRCm39) |
S947T |
probably damaging |
Het |
Rasgrp1 |
T |
A |
2: 117,129,010 (GRCm39) |
H203L |
probably damaging |
Het |
Rbbp6 |
G |
A |
7: 122,587,841 (GRCm39) |
G270R |
probably damaging |
Het |
Rcl1 |
A |
G |
19: 29,098,662 (GRCm39) |
|
probably null |
Het |
Rpl23a-ps1 |
T |
C |
1: 46,020,793 (GRCm39) |
|
noncoding transcript |
Het |
Serpinb7 |
T |
G |
1: 107,363,110 (GRCm39) |
H91Q |
probably damaging |
Het |
Shd |
C |
T |
17: 56,279,839 (GRCm39) |
P111S |
possibly damaging |
Het |
Slc35e1 |
G |
T |
8: 73,237,602 (GRCm39) |
|
probably benign |
Het |
Srgap3 |
C |
T |
6: 112,752,647 (GRCm39) |
R279H |
probably damaging |
Het |
Sstr4 |
G |
A |
2: 148,237,472 (GRCm39) |
E28K |
probably benign |
Het |
Stip1 |
T |
C |
19: 6,998,464 (GRCm39) |
|
probably benign |
Het |
Syne2 |
A |
G |
12: 75,973,288 (GRCm39) |
E1097G |
probably benign |
Het |
Tbcd |
T |
A |
11: 121,431,819 (GRCm39) |
V489E |
probably damaging |
Het |
Trmt44 |
T |
A |
5: 35,726,147 (GRCm39) |
R343S |
possibly damaging |
Het |
Trps1 |
A |
G |
15: 50,710,210 (GRCm39) |
S47P |
probably benign |
Het |
Ubr3 |
A |
C |
2: 69,747,441 (GRCm39) |
K235Q |
possibly damaging |
Het |
Uckl1 |
G |
A |
2: 181,216,754 (GRCm39) |
Q48* |
probably null |
Het |
Vat1 |
T |
C |
11: 101,356,541 (GRCm39) |
D140G |
probably benign |
Het |
Vmn2r80 |
A |
G |
10: 79,030,081 (GRCm39) |
T636A |
possibly damaging |
Het |
Zfp423 |
A |
T |
8: 88,508,239 (GRCm39) |
|
probably null |
Het |
Zfp667 |
C |
A |
7: 6,293,545 (GRCm39) |
T15N |
probably damaging |
Het |
|
Other mutations in Tnks2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01977:Tnks2
|
APN |
19 |
36,849,990 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
2013-10-07 |