Incidental Mutation 'R7961:Tnks2'
ID |
650142 |
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 |
046005-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7961 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
36811632-36870877 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36829901 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 194
(M194K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025729
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025729]
|
AlphaFold |
Q3UES3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025729
AA Change: M194K
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000025729 Gene: ENSMUSG00000024811 AA Change: M194K
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 |
0.2058 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
94% (44/47) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
A |
5: 8,878,870 (GRCm39) |
N751K |
possibly damaging |
Het |
Bckdha |
G |
A |
7: 25,330,903 (GRCm39) |
R288W |
probably damaging |
Het |
Ccng1 |
G |
A |
11: 40,642,096 (GRCm39) |
H229Y |
probably benign |
Het |
Cenpn |
C |
A |
8: 117,663,976 (GRCm39) |
T256N |
probably benign |
Het |
Ciart |
A |
G |
3: 95,788,629 (GRCm39) |
V70A |
possibly damaging |
Het |
Clcc1 |
A |
G |
3: 108,568,774 (GRCm39) |
N36S |
probably damaging |
Het |
Cntnap1 |
G |
A |
11: 101,069,121 (GRCm39) |
A192T |
probably benign |
Het |
Dmrt1 |
T |
A |
19: 25,523,245 (GRCm39) |
S199T |
possibly damaging |
Het |
Dmrt3 |
T |
C |
19: 25,588,272 (GRCm39) |
V37A |
possibly damaging |
Het |
Dock1 |
T |
A |
7: 134,346,786 (GRCm39) |
D239E |
possibly damaging |
Het |
Dyrk3 |
A |
G |
1: 131,063,995 (GRCm39) |
|
probably null |
Het |
Engase |
A |
G |
11: 118,377,686 (GRCm39) |
D571G |
possibly damaging |
Het |
Gm45871 |
C |
T |
18: 90,609,883 (GRCm39) |
H374Y |
probably damaging |
Het |
Icam5 |
T |
C |
9: 20,950,051 (GRCm39) |
V870A |
possibly damaging |
Het |
Idh2 |
T |
C |
7: 79,748,001 (GRCm39) |
H233R |
probably benign |
Het |
Kcna5 |
A |
G |
6: 126,510,517 (GRCm39) |
L537P |
probably benign |
Het |
Krt71 |
T |
C |
15: 101,643,877 (GRCm39) |
I454V |
probably damaging |
Het |
Krtap5-4 |
C |
T |
7: 141,857,671 (GRCm39) |
Q114* |
probably null |
Het |
Loxl3 |
T |
C |
6: 83,027,790 (GRCm39) |
F734S |
possibly damaging |
Het |
Lpcat1 |
C |
T |
13: 73,659,498 (GRCm39) |
T420I |
probably damaging |
Het |
Mia2 |
T |
A |
12: 59,206,425 (GRCm39) |
|
probably null |
Het |
Neurod4 |
A |
T |
10: 130,106,356 (GRCm39) |
V306D |
possibly damaging |
Het |
Nkiras2 |
A |
T |
11: 100,510,628 (GRCm39) |
|
probably benign |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 78,103,076 (GRCm39) |
D408V |
probably benign |
Het |
Nubpl |
T |
A |
12: 52,228,080 (GRCm39) |
L168* |
probably null |
Het |
Odf1 |
A |
G |
15: 38,226,840 (GRCm39) |
I247V |
unknown |
Het |
Or4c35 |
A |
G |
2: 89,808,131 (GRCm39) |
Q3R |
probably benign |
Het |
Or4k48 |
G |
A |
2: 111,476,282 (GRCm39) |
S20F |
probably damaging |
Het |
Or5d41 |
C |
A |
2: 88,055,033 (GRCm39) |
M114I |
possibly damaging |
Het |
Pcsk1 |
T |
C |
13: 75,274,958 (GRCm39) |
S516P |
probably benign |
Het |
Pikfyve |
A |
G |
1: 65,294,293 (GRCm39) |
D1411G |
probably damaging |
Het |
Polm |
T |
C |
11: 5,780,155 (GRCm39) |
D294G |
possibly damaging |
Het |
Ppcs |
A |
T |
4: 119,276,262 (GRCm39) |
S281T |
probably benign |
Het |
Pramel34 |
T |
C |
5: 93,784,543 (GRCm39) |
D307G |
probably damaging |
Het |
Pspc1 |
G |
A |
14: 57,009,304 (GRCm39) |
Q177* |
probably null |
Het |
Rbm33 |
G |
A |
5: 28,599,606 (GRCm39) |
G185R |
|
Het |
Satb2 |
A |
G |
1: 56,910,917 (GRCm39) |
S243P |
probably benign |
Het |
Serinc5 |
T |
C |
13: 92,797,699 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
T |
C |
5: 113,430,510 (GRCm39) |
T292A |
probably damaging |
Het |
Smad3 |
G |
A |
9: 63,557,564 (GRCm39) |
R420C |
possibly damaging |
Het |
Sntg1 |
C |
T |
1: 8,433,794 (GRCm39) |
V486I |
probably damaging |
Het |
Tep1 |
A |
G |
14: 51,061,687 (GRCm39) |
S2610P |
possibly damaging |
Het |
Tmem200a |
A |
G |
10: 25,869,904 (GRCm39) |
S122P |
probably damaging |
Het |
Trav14d-3-dv8 |
A |
C |
14: 53,316,224 (GRCm39) |
Q28P |
probably damaging |
Het |
Trpm5 |
T |
C |
7: 142,634,106 (GRCm39) |
E700G |
probably benign |
Het |
Ubqln3 |
T |
A |
7: 103,791,797 (GRCm39) |
I98L |
probably benign |
Het |
Usp25 |
A |
G |
16: 76,856,150 (GRCm39) |
I248V |
probably damaging |
Het |
Vmn1r28 |
T |
C |
6: 58,242,178 (GRCm39) |
V7A |
probably benign |
Het |
Zfp60 |
G |
A |
7: 27,447,881 (GRCm39) |
G183D |
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 |
|
|
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 |
|
|
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'- TGTAATGAGATCTGACGCCC -3'
(R):5'- ATGGAGTTGACTGAAACAGTAACC -3'
Sequencing Primer
(F):5'- GTAATGAGATCTGACGCCCTCTTTTG -3'
(R):5'- AGAAAATCTAACCATGAGCTCATTG -3'
|
Posted On |
2020-09-15 |