Incidental Mutation 'R7015:Tnks'
| ID |
545256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnks
|
| Ensembl Gene |
ENSMUSG00000031529 |
| Gene Name |
tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase |
| Synonyms |
mTNKS1, 4930554K12Rik, D130072O21Rik, TANK1, tankyrase 1 |
| MMRRC Submission |
045116-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7015 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
34826460-34965690 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 34838547 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 42
(I42L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033929]
|
| AlphaFold |
Q6PFX9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033929
AA Change: I1186L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: I1186L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
175 |
N/A |
INTRINSIC |
|
ANK
|
208 |
237 |
4.26e-4 |
SMART |
|
ANK
|
241 |
270 |
3.23e-4 |
SMART |
|
ANK
|
274 |
303 |
3.28e-5 |
SMART |
|
ANK
|
327 |
355 |
2.66e3 |
SMART |
|
ANK
|
361 |
390 |
7.64e-6 |
SMART |
|
ANK
|
394 |
423 |
2.62e-4 |
SMART |
|
ANK
|
427 |
456 |
1.99e-4 |
SMART |
|
ANK
|
514 |
546 |
3.18e-3 |
SMART |
|
ANK
|
550 |
579 |
1.51e-4 |
SMART |
|
ANK
|
583 |
612 |
4.26e-4 |
SMART |
|
ANK
|
642 |
670 |
2.21e3 |
SMART |
|
ANK
|
676 |
705 |
4.03e-5 |
SMART |
|
ANK
|
709 |
738 |
2.48e-5 |
SMART |
|
ANK
|
742 |
771 |
1.64e-5 |
SMART |
|
low complexity region
|
792 |
810 |
N/A |
INTRINSIC |
|
ANK
|
829 |
858 |
1.47e-7 |
SMART |
|
ANK
|
862 |
891 |
2.21e-2 |
SMART |
|
ANK
|
895 |
924 |
3.13e-2 |
SMART |
|
low complexity region
|
996 |
1010 |
N/A |
INTRINSIC |
|
SAM
|
1017 |
1082 |
1.14e-12 |
SMART |
|
Pfam:PARP
|
1098 |
1303 |
1.5e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209632
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210014
AA Change: I42L
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| Meta Mutation Damage Score |
0.1022 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
93% (55/59) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele fail to exhibit any abonormalities. Male mice homozygous for a gene trapped allele exhibit decreased fat pad weight, increased metabolism, hyperinsulinemia, and hypoglycemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
A |
G |
1: 160,075,168 (GRCm38) |
R3G |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,798,178 (GRCm38) |
I150V |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,574,110 (GRCm38) |
L1085P |
probably damaging |
Het |
| Agbl4 |
A |
G |
4: 110,478,500 (GRCm38) |
N24D |
probably damaging |
Het |
| Aox2 |
A |
G |
1: 58,282,758 (GRCm38) |
T70A |
probably benign |
Het |
| Aplf |
G |
A |
6: 87,641,902 (GRCm38) |
A399V |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,523,921 (GRCm38) |
S1663G |
probably benign |
Het |
| Bcat1 |
G |
C |
6: 145,039,583 (GRCm38) |
P43R |
probably damaging |
Het |
| Camk1 |
T |
C |
6: 113,341,926 (GRCm38) |
R9G |
probably benign |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,278 (GRCm38) |
V1117A |
probably damaging |
Het |
| Cd300ld4 |
A |
T |
11: 115,022,707 (GRCm38) |
V174E |
probably benign |
Het |
| Cep85l |
T |
C |
10: 53,349,055 (GRCm38) |
D146G |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,613,612 (GRCm38) |
|
probably benign |
Het |
| Cog3 |
C |
T |
14: 75,713,276 (GRCm38) |
V719I |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,506,950 (GRCm38) |
P532L |
unknown |
Het |
| Col6a4 |
C |
T |
9: 106,033,755 (GRCm38) |
|
probably null |
Het |
| Dync1h1 |
C |
T |
12: 110,666,087 (GRCm38) |
Q4547* |
probably null |
Het |
| Ergic1 |
G |
A |
17: 26,654,879 (GRCm38) |
|
probably benign |
Het |
| Foxn4 |
G |
A |
5: 114,256,855 (GRCm38) |
T337M |
possibly damaging |
Het |
| Gemin5 |
A |
T |
11: 58,156,740 (GRCm38) |
I336N |
probably damaging |
Het |
| Gm21905 |
A |
T |
5: 67,946,362 (GRCm38) |
|
probably null |
Het |
| Grik2 |
C |
A |
10: 49,535,436 (GRCm38) |
R202L |
probably damaging |
Het |
| Iglon5 |
T |
C |
7: 43,476,927 (GRCm38) |
D184G |
probably benign |
Het |
| Il11ra1 |
A |
T |
4: 41,765,421 (GRCm38) |
Q172L |
probably benign |
Het |
| Me2 |
G |
T |
18: 73,781,147 (GRCm38) |
|
probably null |
Het |
| Med24 |
A |
G |
11: 98,718,852 (GRCm38) |
V73A |
possibly damaging |
Het |
| Mmp24 |
A |
G |
2: 155,792,624 (GRCm38) |
Q88R |
probably damaging |
Het |
| Mroh3 |
A |
T |
1: 136,183,331 (GRCm38) |
V819E |
probably damaging |
Het |
| Mrps9 |
A |
G |
1: 42,898,546 (GRCm38) |
K247R |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,871,844 (GRCm38) |
R1254H |
|
Het |
| Ncoa5 |
A |
G |
2: 165,002,081 (GRCm38) |
L134P |
probably benign |
Het |
| Olfr628 |
T |
C |
7: 103,732,817 (GRCm38) |
V297A |
probably null |
Het |
| Olfr78 |
C |
A |
7: 102,742,444 (GRCm38) |
L186F |
probably damaging |
Het |
| Olfr984 |
A |
T |
9: 40,101,455 (GRCm38) |
F12I |
probably benign |
Het |
| Pdcd11 |
A |
G |
19: 47,098,226 (GRCm38) |
I224V |
probably benign |
Het |
| Ptprh |
C |
A |
7: 4,552,627 (GRCm38) |
|
probably null |
Het |
| Rab34 |
G |
T |
11: 78,190,152 (GRCm38) |
V63F |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,801,765 (GRCm38) |
I71T |
probably benign |
Het |
| Rai14 |
G |
A |
15: 10,589,315 (GRCm38) |
R266* |
probably null |
Het |
| Rsph9 |
A |
G |
17: 46,129,456 (GRCm38) |
V238A |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,994,649 (GRCm38) |
P44L |
unknown |
Het |
| Sel1l3 |
A |
T |
5: 53,172,574 (GRCm38) |
C480S |
probably benign |
Het |
| Sh3pxd2a |
C |
T |
19: 47,268,123 (GRCm38) |
A747T |
probably benign |
Het |
| Slc1a3 |
T |
C |
15: 8,649,568 (GRCm38) |
N181S |
probably damaging |
Het |
| Slit1 |
T |
A |
19: 41,629,886 (GRCm38) |
K784* |
probably null |
Het |
| Sos2 |
T |
A |
12: 69,585,235 (GRCm38) |
Q1297L |
probably benign |
Het |
| Srd5a2 |
T |
A |
17: 74,027,119 (GRCm38) |
T102S |
probably benign |
Het |
| Ss18l2 |
A |
T |
9: 121,712,608 (GRCm38) |
I64F |
probably damaging |
Het |
| Tas2r120 |
T |
C |
6: 132,657,165 (GRCm38) |
F70S |
possibly damaging |
Het |
| Tjap1 |
G |
A |
17: 46,263,774 (GRCm38) |
A5V |
possibly damaging |
Het |
| Tln2 |
A |
T |
9: 67,362,647 (GRCm38) |
M488K |
possibly damaging |
Het |
| Togaram2 |
A |
T |
17: 71,709,568 (GRCm38) |
Q640L |
possibly damaging |
Het |
| Triobp |
C |
A |
15: 78,994,060 (GRCm38) |
Q1682K |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,893,683 (GRCm38) |
E311K |
probably damaging |
Het |
| Ugt2b5 |
A |
G |
5: 87,139,796 (GRCm38) |
Y171H |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,995,558 (GRCm38) |
D548G |
possibly damaging |
Het |
| Zfp990 |
G |
T |
4: 145,536,635 (GRCm38) |
D68Y |
probably damaging |
Het |
| Zranb2 |
A |
T |
3: 157,536,733 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Tnks |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Tnks
|
APN |
8 |
34,861,689 (GRCm38) |
splice site |
probably benign |
|
|
IGL00901:Tnks
|
APN |
8 |
34,838,395 (GRCm38) |
nonsense |
probably null |
|
|
IGL01448:Tnks
|
APN |
8 |
34,839,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01455:Tnks
|
APN |
8 |
34,940,900 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01962:Tnks
|
APN |
8 |
34,869,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02088:Tnks
|
APN |
8 |
34,839,994 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL02260:Tnks
|
APN |
8 |
34,842,983 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02454:Tnks
|
APN |
8 |
34,831,728 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02486:Tnks
|
APN |
8 |
34,851,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02612:Tnks
|
APN |
8 |
34,849,299 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL03179:Tnks
|
APN |
8 |
34,848,670 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL03404:Tnks
|
APN |
8 |
34,940,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0256:Tnks
|
UTSW |
8 |
34,861,547 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0265:Tnks
|
UTSW |
8 |
34,839,970 (GRCm38) |
nonsense |
probably null |
|
|
R0334:Tnks
|
UTSW |
8 |
34,853,259 (GRCm38) |
nonsense |
probably null |
|
|
R0414:Tnks
|
UTSW |
8 |
34,853,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0526:Tnks
|
UTSW |
8 |
34,853,303 (GRCm38) |
missense |
probably benign |
0.23 |
|
R0622:Tnks
|
UTSW |
8 |
34,940,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1445:Tnks
|
UTSW |
8 |
34,834,603 (GRCm38) |
splice site |
probably benign |
|
|
R1618:Tnks
|
UTSW |
8 |
34,875,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1779:Tnks
|
UTSW |
8 |
34,857,518 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1919:Tnks
|
UTSW |
8 |
34,875,232 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1938:Tnks
|
UTSW |
8 |
34,838,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2018:Tnks
|
UTSW |
8 |
34,851,106 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2198:Tnks
|
UTSW |
8 |
34,873,067 (GRCm38) |
missense |
probably benign |
0.29 |
|
R2198:Tnks
|
UTSW |
8 |
34,848,649 (GRCm38) |
missense |
probably benign |
|
|
R2925:Tnks
|
UTSW |
8 |
34,965,661 (GRCm38) |
missense |
unknown |
|
|
R3828:Tnks
|
UTSW |
8 |
34,873,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3913:Tnks
|
UTSW |
8 |
34,873,074 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3916:Tnks
|
UTSW |
8 |
34,853,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3917:Tnks
|
UTSW |
8 |
34,853,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3930:Tnks
|
UTSW |
8 |
34,940,812 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4659:Tnks
|
UTSW |
8 |
34,849,311 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R4760:Tnks
|
UTSW |
8 |
34,851,783 (GRCm38) |
missense |
probably benign |
0.38 |
|
R5091:Tnks
|
UTSW |
8 |
34,841,809 (GRCm38) |
missense |
probably benign |
0.40 |
|
R5419:Tnks
|
UTSW |
8 |
34,965,566 (GRCm38) |
missense |
unknown |
|
|
R5558:Tnks
|
UTSW |
8 |
34,965,665 (GRCm38) |
start codon destroyed |
probably null |
|
|
R5582:Tnks
|
UTSW |
8 |
34,940,861 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6035:Tnks
|
UTSW |
8 |
34,918,461 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6035:Tnks
|
UTSW |
8 |
34,918,461 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6495:Tnks
|
UTSW |
8 |
34,839,966 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6527:Tnks
|
UTSW |
8 |
34,873,093 (GRCm38) |
missense |
probably benign |
0.36 |
|
R6991:Tnks
|
UTSW |
8 |
34,834,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7038:Tnks
|
UTSW |
8 |
34,851,636 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7057:Tnks
|
UTSW |
8 |
34,840,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7167:Tnks
|
UTSW |
8 |
34,849,304 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7250:Tnks
|
UTSW |
8 |
34,851,758 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7475:Tnks
|
UTSW |
8 |
34,831,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7790:Tnks
|
UTSW |
8 |
34,861,540 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7818:Tnks
|
UTSW |
8 |
34,873,028 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7909:Tnks
|
UTSW |
8 |
34,940,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7970:Tnks
|
UTSW |
8 |
34,855,926 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8341:Tnks
|
UTSW |
8 |
34,873,045 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8343:Tnks
|
UTSW |
8 |
34,834,584 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8870:Tnks
|
UTSW |
8 |
34,847,279 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8936:Tnks
|
UTSW |
8 |
34,853,347 (GRCm38) |
nonsense |
probably null |
|
|
R9049:Tnks
|
UTSW |
8 |
34,841,778 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9080:Tnks
|
UTSW |
8 |
34,965,312 (GRCm38) |
small deletion |
probably benign |
|
|
R9182:Tnks
|
UTSW |
8 |
34,841,751 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9211:Tnks
|
UTSW |
8 |
34,849,335 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9425:Tnks
|
UTSW |
8 |
34,873,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9649:Tnks
|
UTSW |
8 |
34,838,935 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1177:Tnks
|
UTSW |
8 |
34,965,145 (GRCm38) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCAGCGCTATAGTCAAAGG -3'
(R):5'- GTCTGAATTTGCTGCTAAACTCC -3'
Sequencing Primer
(F):5'- CCAGCGCTATAGTCAAAGGTTAGTTG -3'
(R):5'- CTGCTAAACTCCAGTTCCAAGTTGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation