Incidental Mutation 'R5550:Tnks2'
ID |
435102 |
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 |
043107-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5550 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
36811632-36870877 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36839746 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 78
(V78E)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025729]
[ENSMUST00000167724]
|
AlphaFold |
Q3UES3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025729
AA Change: V419E
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000025729 Gene: ENSMUSG00000024811 AA Change: V419E
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 |
noncoding transcript
Transcript: ENSMUST00000167533
|
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168718
AA Change: V78E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133253 Gene: ENSMUSG00000024811 AA Change: V78E
Domain | Start | End | E-Value | Type |
ANK
|
23 |
55 |
1.57e-2 |
SMART |
ANK
|
59 |
88 |
4.5e-3 |
SMART |
ANK
|
92 |
121 |
4.89e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.3%
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
C |
11: 119,900,129 (GRCm39) |
I1295M |
probably benign |
Het |
Adgrb2 |
G |
T |
4: 129,908,727 (GRCm39) |
|
probably null |
Het |
Adig |
A |
T |
2: 158,349,880 (GRCm39) |
|
probably benign |
Het |
Atp5po |
C |
A |
16: 91,727,292 (GRCm39) |
V15F |
probably damaging |
Het |
Bdh2 |
A |
G |
3: 134,994,074 (GRCm39) |
K52R |
probably benign |
Het |
Bud23 |
A |
G |
5: 135,092,744 (GRCm39) |
V27A |
probably benign |
Het |
Ces2b |
A |
G |
8: 105,565,069 (GRCm39) |
D551G |
probably benign |
Het |
Csmd3 |
G |
C |
15: 48,048,753 (GRCm39) |
S446C |
probably damaging |
Het |
Dio3 |
A |
T |
12: 110,246,560 (GRCm39) |
T299S |
probably benign |
Het |
Dnah1 |
T |
A |
14: 31,038,665 (GRCm39) |
I139F |
probably benign |
Het |
Dpy30 |
A |
G |
17: 74,622,920 (GRCm39) |
Y21H |
probably benign |
Het |
Gbp4 |
C |
T |
5: 105,269,911 (GRCm39) |
V306M |
probably damaging |
Het |
Gcat |
G |
A |
15: 78,926,411 (GRCm39) |
V94M |
probably benign |
Het |
H2bc27 |
A |
G |
11: 58,840,146 (GRCm39) |
*127W |
probably null |
Het |
Henmt1 |
A |
G |
3: 108,861,184 (GRCm39) |
Y69C |
probably damaging |
Het |
Kank4 |
A |
G |
4: 98,659,678 (GRCm39) |
F800S |
probably benign |
Het |
Lrrc37a |
T |
A |
11: 103,389,003 (GRCm39) |
T2141S |
unknown |
Het |
Map3k4 |
G |
A |
17: 12,462,445 (GRCm39) |
R1143* |
probably null |
Het |
Mdc1 |
A |
G |
17: 36,156,776 (GRCm39) |
D61G |
possibly damaging |
Het |
Nfkbid |
T |
A |
7: 30,125,426 (GRCm39) |
L303Q |
probably damaging |
Het |
Or2ag15 |
T |
C |
7: 106,340,340 (GRCm39) |
N267S |
probably benign |
Het |
Or6c75 |
A |
G |
10: 129,337,652 (GRCm39) |
N300D |
probably damaging |
Het |
P2ry1 |
T |
C |
3: 60,911,232 (GRCm39) |
C124R |
probably damaging |
Het |
Sntg1 |
C |
T |
1: 8,695,008 (GRCm39) |
C153Y |
probably damaging |
Het |
Speg |
A |
T |
1: 75,405,744 (GRCm39) |
T2983S |
probably damaging |
Het |
Tbc1d2 |
G |
A |
4: 46,646,138 (GRCm39) |
P163S |
probably benign |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Trip12 |
A |
G |
1: 84,738,820 (GRCm39) |
C709R |
probably damaging |
Het |
Xpo5 |
T |
A |
17: 46,545,418 (GRCm39) |
V828D |
possibly 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 |
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 |
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'- AACTGCTGCTCAGAAAGGG -3'
(R):5'- CTTGAGACAGGTTCAGTGCTG -3'
Sequencing Primer
(F):5'- TCAGAAAGGGAGCAAACACC -3'
(R):5'- GTCCTTACAACTGCATGGCAAGTG -3'
|
Posted On |
2016-10-24 |