Incidental Mutation 'R5467:Tnks2'
| ID |
433307 |
| 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 |
043028-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5467 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
36811632-36870877 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36859176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 314
(R314W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025729]
[ENSMUST00000164665]
|
| AlphaFold |
Q3UES3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025729
AA Change: R932W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025729
Gene: ENSMUSG00000024811
AA Change: R932W
| 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: R314W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132440
Gene: ENSMUSG00000024811
AA Change: R314W
| 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 |
noncoding transcript
Transcript: ENSMUST00000168654
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 94.9%
- 20x: 89.6%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,222,991 (GRCm39) |
M525T |
possibly damaging |
Het |
| Arpc5l |
T |
C |
2: 38,903,751 (GRCm39) |
V80A |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
| Bltp3b |
G |
T |
10: 89,640,961 (GRCm39) |
G711W |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,705,836 (GRCm39) |
D773V |
probably damaging |
Het |
| Clcn6 |
A |
T |
4: 148,102,093 (GRCm39) |
H330Q |
possibly damaging |
Het |
| Cwc22 |
ATCTCTCTCTCTCTCTCT |
ATCTCTCTCTCTCTCT |
2: 77,759,803 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
C |
A |
7: 130,642,723 (GRCm39) |
S180R |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Elovl7 |
T |
C |
13: 108,416,156 (GRCm39) |
V182A |
probably benign |
Het |
| Eml3 |
G |
A |
19: 8,914,946 (GRCm39) |
W601* |
probably null |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,927,912 (GRCm39) |
Y3775F |
probably benign |
Het |
| Gns |
T |
C |
10: 121,227,351 (GRCm39) |
W454R |
probably benign |
Het |
| Katnip |
T |
C |
7: 125,442,527 (GRCm39) |
F812S |
possibly damaging |
Het |
| Kcnh2 |
A |
T |
5: 24,531,765 (GRCm39) |
L40* |
probably null |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lrrc37 |
G |
T |
11: 103,494,091 (GRCm39) |
C655* |
probably null |
Het |
| Mgl2 |
T |
A |
11: 70,025,878 (GRCm39) |
I31N |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,216,448 (GRCm39) |
T2677A |
possibly damaging |
Het |
| Ndst1 |
A |
G |
18: 60,825,093 (GRCm39) |
S742P |
probably benign |
Het |
| Or10g6 |
G |
T |
9: 39,933,733 (GRCm39) |
V15L |
probably benign |
Het |
| Or1o11 |
G |
T |
17: 37,756,973 (GRCm39) |
C187F |
probably damaging |
Het |
| Or4d6 |
A |
C |
19: 12,086,023 (GRCm39) |
S70A |
probably benign |
Het |
| Or5b112 |
A |
T |
19: 13,319,521 (GRCm39) |
Y133F |
probably damaging |
Het |
| Or8g21 |
T |
C |
9: 38,906,200 (GRCm39) |
Y177C |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,653,188 (GRCm39) |
D552G |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,291,654 (GRCm39) |
V1291E |
probably damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,009,729 (GRCm39) |
E636G |
probably damaging |
Het |
| Prl5a1 |
A |
T |
13: 28,333,994 (GRCm39) |
I166L |
possibly damaging |
Het |
| Rb1 |
T |
C |
14: 73,449,060 (GRCm39) |
D690G |
possibly damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,759 (GRCm39) |
H840R |
possibly damaging |
Het |
| Skida1 |
T |
C |
2: 18,050,923 (GRCm39) |
|
probably benign |
Het |
| Slc31a2 |
A |
G |
4: 62,210,924 (GRCm39) |
H19R |
probably damaging |
Het |
| Styxl2 |
C |
A |
1: 165,939,599 (GRCm39) |
|
probably null |
Het |
| Trak1 |
A |
G |
9: 121,275,864 (GRCm39) |
D189G |
probably damaging |
Het |
| Trav13n-4 |
T |
A |
14: 53,601,303 (GRCm39) |
V24E |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,043,633 (GRCm39) |
Y124H |
unknown |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
|
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'- TGCACAGACAGACAAACTTTCATG -3'
(R):5'- GAGACGAGAAACTTTACTTTGGGTC -3'
Sequencing Primer
(F):5'- CTACCAAGTGAGCAAGCAT -3'
(R):5'- AGCACTCCTCACAGACTT -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation