Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00498:Tnks'

14528

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnks

Ensembl Gene

ENSMUSG00000031529

Gene Name

tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase

Synonyms

mTNKS1, 4930554K12Rik, D130072O21Rik, TANK1, tankyrase 1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00498

Quality Score

Status

Chromosome

Chromosomal Location

34826460-34965690 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 34861689 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000033929

SMART Domains

Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529

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

noncoding transcript
Transcript: ENSMUST00000209904

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	A	2: 68,601,898 (GRCm38)	G128R	unknown	Het
Acsm5	T	C	7: 119,542,438 (GRCm38)		probably null	Het
Atad2	A	C	15: 58,116,820 (GRCm38)	F423V	probably damaging	Het
Carmil3	T	A	14: 55,501,895 (GRCm38)		probably null	Het
Cdc42bpa	A	C	1: 180,106,121 (GRCm38)	E775A	probably damaging	Het
Cfdp1	T	C	8: 111,840,478 (GRCm38)	E133G	probably benign	Het
Chst3	A	G	10: 60,185,619 (GRCm38)	F469L	possibly damaging	Het
Dbx1	T	C	7: 49,636,474 (GRCm38)	D81G	probably benign	Het
Dmp1	A	G	5: 104,210,155 (GRCm38)		probably benign	Het
Dnah8	A	G	17: 30,677,176 (GRCm38)	T855A	probably benign	Het
Fbxw2	C	T	2: 34,805,941 (GRCm38)	A250T	probably damaging	Het
Fcgbp	T	C	7: 28,091,797 (GRCm38)	C828R	probably damaging	Het
Gmfg	G	T	7: 28,446,385 (GRCm38)	R83L	possibly damaging	Het
Gpr37l1	A	G	1: 135,161,702 (GRCm38)		probably benign	Het
Hcfc1r1	G	A	17: 23,674,008 (GRCm38)	R9Q	probably damaging	Het
Hsd17b1	A	T	11: 101,080,058 (GRCm38)	H280L	possibly damaging	Het
Hsd17b12	A	C	2: 94,083,165 (GRCm38)		probably null	Het
Itga1	A	G	13: 115,031,193 (GRCm38)	V99A	probably benign	Het
Kcnn1	A	G	8: 70,852,880 (GRCm38)	S229P	probably damaging	Het
Klhdc8a	A	G	1: 132,303,018 (GRCm38)	N207S	probably benign	Het
Lrrtm4	T	C	6: 80,022,546 (GRCm38)	W314R	probably damaging	Het
Malrd1	T	C	2: 16,142,186 (GRCm38)		probably benign	Het
Marcks	T	C	10: 37,138,517 (GRCm38)	K7E	probably damaging	Het
Mov10	A	G	3: 104,800,947 (GRCm38)		probably benign	Het
Pclo	A	T	5: 14,540,739 (GRCm38)	T1018S	unknown	Het
Sdk1	T	C	5: 142,085,606 (GRCm38)	Y1184H	probably damaging	Het
Slc6a18	A	T	13: 73,671,719 (GRCm38)	M244K	possibly damaging	Het
Snx19	C	T	9: 30,428,937 (GRCm38)	T457I	possibly damaging	Het
Stard3	T	A	11: 98,376,530 (GRCm38)	V158D	possibly damaging	Het
Ugt2b34	A	G	5: 86,901,225 (GRCm38)	S314P	probably damaging	Het
Usp15	G	A	10: 123,113,596 (GRCm38)	S952L	probably benign	Het
Utp11	A	G	4: 124,679,739 (GRCm38)	V214A	possibly damaging	Het

Other mutations in Tnks

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7015:Tnks	UTSW	8	34,838,547 (GRCm38)	missense	probably benign	0.04
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

Posted On

2012-12-06