Incidental Mutation 'R7309:Tnks2'
| ID |
567468 |
| 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 |
045408-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7309 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
36811632-36870877 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 36829936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 206
(A206S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025729]
|
| AlphaFold |
Q3UES3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025729
AA Change: A206S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025729
Gene: ENSMUSG00000024811
AA Change: A206S
| 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 |
|
| Meta Mutation Damage Score |
0.1047 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
94% (47/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
C |
5: 109,884,819 (GRCm39) |
H346Q |
probably damaging |
Het |
| 4932414N04Rik |
A |
T |
2: 68,546,530 (GRCm39) |
I71L |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,516,604 (GRCm39) |
S377P |
probably damaging |
Het |
| Cldnd2 |
A |
G |
7: 43,091,133 (GRCm39) |
T22A |
possibly damaging |
Het |
| Comp |
A |
T |
8: 70,826,328 (GRCm39) |
|
probably null |
Het |
| Cop1 |
A |
G |
1: 159,134,195 (GRCm39) |
K446E |
probably damaging |
Het |
| Cox18 |
T |
C |
5: 90,362,917 (GRCm39) |
T314A |
possibly damaging |
Het |
| Csrp3 |
A |
G |
7: 48,485,317 (GRCm39) |
V60A |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,093,988 (GRCm39) |
Y4694F |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,139,510 (GRCm39) |
Y493H |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 139,967,011 (GRCm39) |
|
probably null |
Het |
| Fam187a |
T |
A |
11: 102,776,832 (GRCm39) |
V212E |
probably damaging |
Het |
| Fign |
A |
T |
2: 63,810,301 (GRCm39) |
M323K |
possibly damaging |
Het |
| Foxf2 |
A |
G |
13: 31,810,496 (GRCm39) |
K145R |
probably damaging |
Het |
| Fxyd5 |
T |
C |
7: 30,734,829 (GRCm39) |
N133D |
probably benign |
Het |
| Hnrnpdl |
A |
T |
5: 100,185,482 (GRCm39) |
L240* |
probably null |
Het |
| Kcna7 |
T |
G |
7: 45,058,679 (GRCm39) |
F322C |
probably damaging |
Het |
| Kcnj9 |
A |
G |
1: 172,153,825 (GRCm39) |
C100R |
probably damaging |
Het |
| Lrrc14b |
C |
A |
13: 74,511,321 (GRCm39) |
C253F |
probably benign |
Het |
| Map3k11 |
T |
C |
19: 5,740,486 (GRCm39) |
V71A |
probably damaging |
Het |
| Med13 |
C |
A |
11: 86,181,888 (GRCm39) |
M1315I |
probably benign |
Het |
| Mettl24 |
T |
C |
10: 40,686,496 (GRCm39) |
V291A |
probably benign |
Het |
| Miox |
G |
T |
15: 89,220,252 (GRCm39) |
C148F |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,300,195 (GRCm39) |
|
probably null |
Het |
| Mthfsd |
G |
A |
8: 121,835,070 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
G |
A |
16: 48,916,828 (GRCm39) |
A383T |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,200,670 (GRCm39) |
H117R |
probably benign |
Het |
| Ntrk1 |
A |
T |
3: 87,702,384 (GRCm39) |
M23K |
probably benign |
Het |
| Or14c45 |
T |
A |
7: 86,176,349 (GRCm39) |
L128H |
probably damaging |
Het |
| Or4c3d |
T |
A |
2: 89,881,801 (GRCm39) |
N289I |
probably damaging |
Het |
| Or8g21 |
T |
A |
9: 38,906,576 (GRCm39) |
S52C |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,374,893 (GRCm39) |
|
probably null |
Het |
| Plcz1 |
A |
T |
6: 139,968,882 (GRCm39) |
D185E |
probably damaging |
Het |
| Plekhg5 |
C |
A |
4: 152,196,985 (GRCm39) |
Q757K |
possibly damaging |
Het |
| Prr23a2 |
T |
A |
9: 98,739,027 (GRCm39) |
D128E |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,416,712 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
T |
14: 31,100,246 (GRCm39) |
V221M |
probably benign |
Het |
| Slc25a27 |
A |
T |
17: 43,975,083 (GRCm39) |
D59E |
probably benign |
Het |
| Slc35e1 |
G |
C |
8: 73,246,358 (GRCm39) |
R25G |
unknown |
Het |
| Slc4a4 |
T |
C |
5: 89,318,610 (GRCm39) |
V626A |
probably benign |
Het |
| Slfn5 |
T |
C |
11: 82,847,529 (GRCm39) |
L138P |
probably damaging |
Het |
| Stat1 |
A |
G |
1: 52,165,780 (GRCm39) |
|
probably null |
Het |
| Trav7-1 |
C |
A |
14: 52,892,521 (GRCm39) |
Q25K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,728,670 (GRCm39) |
M5470T |
unknown |
Het |
| Vps35 |
A |
T |
8: 86,001,596 (GRCm39) |
D407E |
probably benign |
Het |
| Wdr90 |
T |
C |
17: 26,079,676 (GRCm39) |
D190G |
probably benign |
Het |
| Wdr93 |
T |
A |
7: 79,423,103 (GRCm39) |
F456I |
possibly damaging |
Het |
| Wdr95 |
A |
G |
5: 149,529,758 (GRCm39) |
E675G |
probably benign |
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 |
|
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 |
|
|
|
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'- AGACAGCTACAGTGTACTAACATG -3'
(R):5'- CAATGGAGTTGACTGAAACAGTAACC -3'
Sequencing Primer
(F):5'- CTTTGTTTTGGTGGTCACAA -3'
(R):5'- AGAAAATCTAACCATGAGCTCATTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation