Incidental Mutation 'R0053:Tnks2'
| ID |
64350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnks2
|
| Ensembl Gene |
ENSMUSG00000024811 |
| Gene Name |
tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 |
| Synonyms |
5430432P15Rik |
| MMRRC Submission |
038347-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0053 (G1)
|
| Quality Score |
189 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
36811632-36870877 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36852765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 166
(S166P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025729]
[ENSMUST00000164665]
[ENSMUST00000167724]
|
| AlphaFold |
Q3UES3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025729
AA Change: S721P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025729
Gene: ENSMUSG00000024811
AA Change: S721P
| 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 damaging
Transcript: ENSMUST00000164665
AA Change: S166P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132440
Gene: ENSMUSG00000024811
AA Change: S166P
| 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 |
noncoding transcript
Transcript: ENSMUST00000166677
|
| 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 |
|
| Meta Mutation Damage Score |
0.4001 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.5%
|
| Validation Efficiency |
100% (67/67) |
| 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 |
|---|
| Ada |
A |
T |
2: 163,574,212 (GRCm39) |
V148D |
probably damaging |
Het |
| Alpi |
T |
C |
1: 87,026,512 (GRCm39) |
D493G |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,107,391 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
A |
T |
8: 21,434,546 (GRCm39) |
|
probably benign |
Het |
| Cadm1 |
C |
T |
9: 47,710,712 (GRCm39) |
T205I |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,322,318 (GRCm39) |
I413V |
possibly damaging |
Het |
| Cblb |
C |
T |
16: 51,963,164 (GRCm39) |
T369I |
probably damaging |
Het |
| Ccdc54 |
T |
A |
16: 50,410,597 (GRCm39) |
N223I |
probably benign |
Het |
| Cdc25c |
A |
G |
18: 34,868,488 (GRCm39) |
V294A |
probably benign |
Het |
| Cep170 |
A |
T |
1: 176,609,946 (GRCm39) |
S122T |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,967,451 (GRCm39) |
N849D |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,505,023 (GRCm39) |
W2051R |
probably benign |
Het |
| Dpp3 |
A |
G |
19: 4,973,154 (GRCm39) |
C147R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,333,631 (GRCm39) |
|
probably null |
Het |
| Fbxw9 |
T |
A |
8: 85,791,083 (GRCm39) |
L250Q |
probably damaging |
Het |
| Gpr75 |
A |
T |
11: 30,842,571 (GRCm39) |
Q492L |
possibly damaging |
Het |
| Gramd4 |
T |
A |
15: 86,014,339 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,007,865 (GRCm39) |
C1488R |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Inava |
C |
T |
1: 136,155,288 (GRCm39) |
V106I |
probably benign |
Het |
| Insr |
A |
G |
8: 3,205,683 (GRCm39) |
S1369P |
probably damaging |
Het |
| Insrr |
A |
C |
3: 87,707,759 (GRCm39) |
D67A |
probably damaging |
Het |
| Irf2 |
T |
A |
8: 47,271,886 (GRCm39) |
Y158N |
probably benign |
Het |
| Katnbl1 |
A |
G |
2: 112,234,586 (GRCm39) |
R23G |
probably benign |
Het |
| Lamb2 |
T |
A |
9: 108,363,936 (GRCm39) |
C987* |
probably null |
Het |
| Lzts2 |
T |
C |
19: 45,014,746 (GRCm39) |
|
probably benign |
Het |
| Mmp14 |
T |
A |
14: 54,676,109 (GRCm39) |
|
probably benign |
Het |
| Mycbpap |
A |
G |
11: 94,402,562 (GRCm39) |
Y258H |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,602,778 (GRCm39) |
|
probably benign |
Het |
| Or10j7 |
T |
C |
1: 173,011,845 (GRCm39) |
D52G |
probably benign |
Het |
| Or4c100 |
T |
A |
2: 88,356,507 (GRCm39) |
N193K |
probably damaging |
Het |
| Parp10 |
T |
A |
15: 76,126,446 (GRCm39) |
L247F |
probably damaging |
Het |
| Pcsk6 |
C |
T |
7: 65,633,451 (GRCm39) |
|
probably benign |
Het |
| Pgap3 |
A |
T |
11: 98,281,924 (GRCm39) |
V129D |
probably benign |
Het |
| Pibf1 |
A |
G |
14: 99,377,993 (GRCm39) |
Y373C |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,136,835 (GRCm39) |
E310G |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,586,892 (GRCm39) |
D385G |
probably damaging |
Het |
| Pole |
A |
T |
5: 110,441,206 (GRCm39) |
D220V |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,351,105 (GRCm39) |
F533I |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,229,088 (GRCm39) |
D711E |
probably benign |
Het |
| Rufy1 |
A |
T |
11: 50,292,292 (GRCm39) |
M499K |
probably benign |
Het |
| Scn1a |
T |
G |
2: 66,130,119 (GRCm39) |
D1232A |
probably benign |
Het |
| Sec23ip |
T |
C |
7: 128,346,891 (GRCm39) |
L49P |
probably damaging |
Het |
| Sf3b1 |
G |
A |
1: 55,039,532 (GRCm39) |
Q698* |
probably null |
Het |
| Shprh |
A |
T |
10: 11,070,116 (GRCm39) |
|
probably null |
Het |
| Snd1 |
C |
A |
6: 28,745,334 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,862,644 (GRCm39) |
A2260T |
possibly damaging |
Het |
| Stpg2 |
A |
G |
3: 138,918,082 (GRCm39) |
Q60R |
probably benign |
Het |
| Strn |
T |
C |
17: 78,964,363 (GRCm39) |
H687R |
possibly damaging |
Het |
| Tgfb3 |
A |
T |
12: 86,124,603 (GRCm39) |
I35N |
probably damaging |
Het |
| Tyw5 |
G |
A |
1: 57,440,597 (GRCm39) |
T55M |
probably damaging |
Het |
| Usp19 |
A |
G |
9: 108,374,369 (GRCm39) |
|
probably null |
Het |
| Zfp13 |
A |
T |
17: 23,795,122 (GRCm39) |
I483N |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTGCACATAGATGATTGGCTGC -3'
(R):5'- CCTCAGAGGTGCTGGAAATCAGTAAC -3'
Sequencing Primer
(F):5'- TTGGTAGGTCTCCAAAACCAGTAG -3'
(R):5'- TCTTTGTGAAACAAGAAGCCAC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation