Incidental Mutation 'R6991:Tnks'
| ID |
543846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnks
|
| Ensembl Gene |
ENSMUSG00000031529 |
| Gene Name |
tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase |
| Synonyms |
mTNKS1, TANK1, tankyrase 1, 4930554K12Rik, D130072O21Rik |
| MMRRC Submission |
045097-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6991 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
35296333-35432844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 35301647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Isoleucine
at position 1274
(R1274I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033929]
|
| AlphaFold |
Q6PFX9 |
| PDB Structure |
Crystal structure of a mouse Tankyrase-Axin complex [X-RAY DIFFRACTION]
Co-crystal structure of tankyrase 1 with compound 3 [(4S)-3-{4-[6-amino-5-(pyrimidin-2-yl)pyridin-3-yl]phenyl}-5,5-dimethyl-4-phenyl-1,3-oxazolidin-2-one] [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033929
AA Change: R1274I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: R1274I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
A |
7: 27,279,871 (GRCm39) |
V278D |
probably damaging |
Het |
| Akap12 |
G |
T |
10: 4,307,122 (GRCm39) |
E1311* |
probably null |
Het |
| Ankdd1a |
T |
A |
9: 65,415,957 (GRCm39) |
D186V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,869,090 (GRCm39) |
E346G |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,696,508 (GRCm39) |
L995S |
possibly damaging |
Het |
| Ccr7 |
A |
C |
11: 99,036,130 (GRCm39) |
V264G |
probably damaging |
Het |
| Col7a1 |
T |
C |
9: 108,812,987 (GRCm39) |
|
probably null |
Het |
| Coq8a |
T |
C |
1: 180,006,633 (GRCm39) |
T132A |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,281,690 (GRCm39) |
E2843G |
unknown |
Het |
| Cyp2b10 |
G |
A |
7: 25,616,780 (GRCm39) |
S407N |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,412,561 (GRCm39) |
V117A |
probably benign |
Het |
| Ddx42 |
G |
A |
11: 106,129,970 (GRCm39) |
V421I |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,601,896 (GRCm39) |
L285* |
probably null |
Het |
| Dip2c |
C |
T |
13: 9,684,868 (GRCm39) |
S1232F |
probably damaging |
Het |
| Dner |
T |
A |
1: 84,454,123 (GRCm39) |
R402* |
probably null |
Het |
| Dpysl3 |
A |
T |
18: 43,486,956 (GRCm39) |
I317N |
probably damaging |
Het |
| Dusp23 |
T |
A |
1: 172,459,224 (GRCm39) |
Y146F |
probably benign |
Het |
| Eef1a2 |
C |
A |
2: 180,790,421 (GRCm39) |
V412L |
possibly damaging |
Het |
| Epha7 |
C |
T |
4: 28,821,489 (GRCm39) |
T218I |
probably damaging |
Het |
| Gigyf2 |
T |
A |
1: 87,334,858 (GRCm39) |
C284S |
probably damaging |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,784,068 (GRCm39) |
E327V |
probably damaging |
Het |
| Hdhd5 |
A |
G |
6: 120,487,130 (GRCm39) |
V409A |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,323,690 (GRCm39) |
Y236H |
probably damaging |
Het |
| Kri1 |
T |
C |
9: 21,199,050 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
A |
T |
8: 10,021,098 (GRCm39) |
V894E |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,023,319 (GRCm39) |
N982S |
probably damaging |
Het |
| Mapk8 |
T |
C |
14: 33,132,841 (GRCm39) |
I32V |
possibly damaging |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mstn |
T |
C |
1: 53,101,100 (GRCm39) |
I59T |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,763,384 (GRCm39) |
E315G |
probably damaging |
Het |
| Notch4 |
G |
T |
17: 34,803,774 (GRCm39) |
E1515* |
probably null |
Het |
| Npw |
A |
C |
17: 24,877,029 (GRCm39) |
V124G |
probably benign |
Het |
| Nxph3 |
A |
G |
11: 95,402,244 (GRCm39) |
S57P |
probably damaging |
Het |
| Opn4 |
A |
T |
14: 34,315,864 (GRCm39) |
L390M |
probably benign |
Het |
| Or12e10 |
G |
A |
2: 87,640,787 (GRCm39) |
D208N |
possibly damaging |
Het |
| Or52e4 |
T |
C |
7: 104,705,771 (GRCm39) |
I106T |
probably damaging |
Het |
| Or5b95 |
G |
T |
19: 12,658,112 (GRCm39) |
L213F |
probably benign |
Het |
| Or5g23 |
T |
C |
2: 85,438,592 (GRCm39) |
I221V |
possibly damaging |
Het |
| Or5p68 |
T |
A |
7: 107,945,295 (GRCm39) |
N298Y |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pla2g2e |
G |
A |
4: 138,607,986 (GRCm39) |
C62Y |
probably damaging |
Het |
| Plcb4 |
G |
A |
2: 135,752,114 (GRCm39) |
V107M |
probably damaging |
Het |
| Pramel33 |
T |
A |
5: 93,632,233 (GRCm39) |
N107I |
probably damaging |
Het |
| Prorsd1 |
A |
C |
11: 29,464,486 (GRCm39) |
|
probably benign |
Het |
| Prox2 |
A |
G |
12: 85,134,165 (GRCm39) |
L587P |
probably benign |
Het |
| Prr22 |
A |
G |
17: 57,078,345 (GRCm39) |
D166G |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,002,686 (GRCm39) |
R1592Q |
probably benign |
Het |
| Rarg |
C |
G |
15: 102,150,350 (GRCm39) |
R74P |
probably damaging |
Het |
| Rcan1 |
A |
G |
16: 92,194,251 (GRCm39) |
V54A |
probably benign |
Het |
| Rmdn2 |
A |
G |
17: 79,928,739 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
| Serpina1a |
T |
C |
12: 103,820,092 (GRCm39) |
T385A |
probably benign |
Het |
| Slc44a3 |
T |
C |
3: 121,325,814 (GRCm39) |
Y12C |
probably benign |
Het |
| Smg1 |
C |
A |
7: 117,767,091 (GRCm39) |
|
probably benign |
Het |
| Spock3 |
A |
G |
8: 63,808,415 (GRCm39) |
*437W |
probably null |
Het |
| Sugct |
T |
A |
13: 17,728,965 (GRCm39) |
Q220H |
probably benign |
Het |
| Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
| Trp53bp1 |
C |
T |
2: 121,038,521 (GRCm39) |
R1439H |
probably damaging |
Het |
| Vmn1r16 |
G |
T |
6: 57,299,869 (GRCm39) |
S251* |
probably null |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,180 (GRCm39) |
Q226L |
probably damaging |
Het |
| Vmn2r67 |
T |
G |
7: 84,804,953 (GRCm39) |
Y53S |
possibly damaging |
Het |
| Vmn2r99 |
A |
G |
17: 19,598,372 (GRCm39) |
N132S |
probably benign |
Het |
| Wdr73 |
T |
G |
7: 80,541,604 (GRCm39) |
T313P |
probably benign |
Het |
| Zfp65 |
C |
T |
13: 67,856,640 (GRCm39) |
R213Q |
probably damaging |
Het |
|
| Other mutations in Tnks |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Tnks
|
APN |
8 |
35,328,843 (GRCm39) |
splice site |
probably benign |
|
|
IGL00901:Tnks
|
APN |
8 |
35,305,549 (GRCm39) |
nonsense |
probably null |
|
|
IGL01448:Tnks
|
APN |
8 |
35,307,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01455:Tnks
|
APN |
8 |
35,408,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01962:Tnks
|
APN |
8 |
35,336,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02088:Tnks
|
APN |
8 |
35,307,148 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02260:Tnks
|
APN |
8 |
35,310,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02454:Tnks
|
APN |
8 |
35,298,882 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02486:Tnks
|
APN |
8 |
35,318,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02612:Tnks
|
APN |
8 |
35,316,453 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03179:Tnks
|
APN |
8 |
35,315,824 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03404:Tnks
|
APN |
8 |
35,407,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0256:Tnks
|
UTSW |
8 |
35,328,701 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0265:Tnks
|
UTSW |
8 |
35,307,124 (GRCm39) |
nonsense |
probably null |
|
|
R0334:Tnks
|
UTSW |
8 |
35,320,413 (GRCm39) |
nonsense |
probably null |
|
|
R0414:Tnks
|
UTSW |
8 |
35,320,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0526:Tnks
|
UTSW |
8 |
35,320,457 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0622:Tnks
|
UTSW |
8 |
35,407,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1445:Tnks
|
UTSW |
8 |
35,301,757 (GRCm39) |
splice site |
probably benign |
|
|
R1618:Tnks
|
UTSW |
8 |
35,342,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Tnks
|
UTSW |
8 |
35,324,672 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1919:Tnks
|
UTSW |
8 |
35,342,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Tnks
|
UTSW |
8 |
35,305,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Tnks
|
UTSW |
8 |
35,318,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2198:Tnks
|
UTSW |
8 |
35,340,221 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2198:Tnks
|
UTSW |
8 |
35,315,803 (GRCm39) |
missense |
probably benign |
|
|
R2925:Tnks
|
UTSW |
8 |
35,432,815 (GRCm39) |
missense |
unknown |
|
|
R3828:Tnks
|
UTSW |
8 |
35,340,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3913:Tnks
|
UTSW |
8 |
35,340,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3916:Tnks
|
UTSW |
8 |
35,320,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3917:Tnks
|
UTSW |
8 |
35,320,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3930:Tnks
|
UTSW |
8 |
35,407,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4659:Tnks
|
UTSW |
8 |
35,316,465 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4760:Tnks
|
UTSW |
8 |
35,318,937 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5091:Tnks
|
UTSW |
8 |
35,308,963 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5419:Tnks
|
UTSW |
8 |
35,432,720 (GRCm39) |
missense |
unknown |
|
|
R5558:Tnks
|
UTSW |
8 |
35,432,819 (GRCm39) |
start codon destroyed |
probably null |
|
|
R5582:Tnks
|
UTSW |
8 |
35,408,015 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6035:Tnks
|
UTSW |
8 |
35,385,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6035:Tnks
|
UTSW |
8 |
35,385,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6495:Tnks
|
UTSW |
8 |
35,307,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6527:Tnks
|
UTSW |
8 |
35,340,247 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7015:Tnks
|
UTSW |
8 |
35,305,701 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7038:Tnks
|
UTSW |
8 |
35,318,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7057:Tnks
|
UTSW |
8 |
35,307,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7167:Tnks
|
UTSW |
8 |
35,316,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7250:Tnks
|
UTSW |
8 |
35,318,912 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7475:Tnks
|
UTSW |
8 |
35,298,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7790:Tnks
|
UTSW |
8 |
35,328,694 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7818:Tnks
|
UTSW |
8 |
35,340,182 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7909:Tnks
|
UTSW |
8 |
35,407,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7970:Tnks
|
UTSW |
8 |
35,323,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8341:Tnks
|
UTSW |
8 |
35,340,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8343:Tnks
|
UTSW |
8 |
35,301,738 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8870:Tnks
|
UTSW |
8 |
35,314,433 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8936:Tnks
|
UTSW |
8 |
35,320,501 (GRCm39) |
nonsense |
probably null |
|
|
R9049:Tnks
|
UTSW |
8 |
35,308,932 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9080:Tnks
|
UTSW |
8 |
35,432,466 (GRCm39) |
small deletion |
probably benign |
|
|
R9182:Tnks
|
UTSW |
8 |
35,308,905 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9211:Tnks
|
UTSW |
8 |
35,316,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9425:Tnks
|
UTSW |
8 |
35,340,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Tnks
|
UTSW |
8 |
35,306,089 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Tnks
|
UTSW |
8 |
35,432,299 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCTATATCAAGCAGGTCTATTC -3'
(R):5'- CACACAGACTTGAAAGTAGCATTTC -3'
Sequencing Primer
(F):5'- TCAAGCAGGTCTATTCAGAGGTATGC -3'
(R):5'- ACCTGGAGAGGGTCAGCATTTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation