Mutagenetix > Incidental Mutation

Incidental Mutation 'R7818:Tnks'

601666

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

045872-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7818 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34826460-34965690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34873028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 479 (Y479N)

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
AA Change: Y479N

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: Y479N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

99% (88/89)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,304,221 (GRCm38)	R342S	probably benign	Het
Aatk	C	T	11: 120,021,455 (GRCm38)	V55I	probably benign	Het
Abhd10	T	A	16: 45,737,553 (GRCm38)	I128L	probably benign	Het
Abraxas1	T	A	5: 100,806,310 (GRCm38)	M325L	probably benign	Het
Adgrb2	C	A	4: 130,014,560 (GRCm38)	L1087I	probably damaging	Het
Adgrb2	C	T	4: 130,014,969 (GRCm38)	P1124S	possibly damaging	Het
Akap9	T	A	5: 4,013,875 (GRCm38)	Y1741*	probably null	Het
Ap1g2	A	T	14: 55,099,724 (GRCm38)	V718D	probably benign	Het
Asph	A	T	4: 9,475,015 (GRCm38)	M637K	probably damaging	Het
Atp2c1	T	C	9: 105,414,757 (GRCm38)	I869V	probably benign	Het
C1ra	G	A	6: 124,517,725 (GRCm38)	E316K	probably benign	Het
Cacna1e	T	C	1: 154,398,406 (GRCm38)	D2251G	probably damaging	Het
Camk2b	A	G	11: 5,977,812 (GRCm38)	S413P	probably benign	Het
Casz1	G	A	4: 148,946,076 (GRCm38)	C1184Y	probably damaging	Het
Cbr4	G	A	8: 61,487,942 (GRCm38)	V32I	probably benign	Het
Ccdc166	A	G	15: 75,981,015 (GRCm38)	S368P	possibly damaging	Het
Ccdc170	A	G	10: 4,549,603 (GRCm38)	N508S	probably benign	Het
Ccdc187	A	G	2: 26,276,174 (GRCm38)	S748P	possibly damaging	Het
Cdca8	A	T	4: 124,926,663 (GRCm38)		probably null	Het
Cep120	T	C	18: 53,723,103 (GRCm38)	D414G	probably benign	Het
Dcp1a	G	T	14: 30,479,721 (GRCm38)	A34S	probably damaging	Het
Ddit3	C	T	10: 127,295,793 (GRCm38)	T70I	probably benign	Het
Dlg2	C	G	7: 91,940,017 (GRCm38)	A313G	probably damaging	Het
Dnah9	A	T	11: 66,025,211 (GRCm38)	V2305D	possibly damaging	Het
Dock1	T	A	7: 134,763,865 (GRCm38)	D427E	probably damaging	Het
Dolpp1	T	C	2: 30,396,491 (GRCm38)	L141P	probably benign	Het
Dsc2	A	T	18: 20,050,132 (GRCm38)	D76E	probably damaging	Het
Dusp7	C	A	9: 106,369,130 (GRCm38)	N111K	probably benign	Het
Fam193a	A	G	5: 34,465,653 (GRCm38)	E1195G	possibly damaging	Het
Fig4	A	G	10: 41,263,166 (GRCm38)	L347P	probably damaging	Het
Frem1	T	C	4: 83,014,008 (GRCm38)	E152G	probably damaging	Het
Galnt2	G	T	8: 124,329,788 (GRCm38)	D234Y	probably damaging	Het
H1f3	C	T	13: 23,554,991 (GRCm38)		probably benign	Het
Igkv4-59	T	C	6: 69,438,491 (GRCm38)	T27A	possibly damaging	Het
Ihh	T	C	1: 74,946,645 (GRCm38)	D227G	possibly damaging	Het
Il1rap	T	A	16: 26,698,847 (GRCm38)	C266S	probably damaging	Het
Iqcf4	A	T	9: 106,570,539 (GRCm38)	L57*	probably null	Het
Kif2b	A	G	11: 91,576,126 (GRCm38)	S444P	probably damaging	Het
Lmf1	T	G	17: 25,662,591 (GRCm38)	I538S	probably benign	Het
Mical2	A	G	7: 112,345,307 (GRCm38)	Y948C	probably damaging	Het
Mr1	G	A	1: 155,130,636 (GRCm38)	Q322*	probably null	Het
Mroh2a	T	C	1: 88,234,612 (GRCm38)		probably null	Het
Mup6	A	G	4: 60,004,884 (GRCm38)	T100A	probably benign	Het
Mybpc1	T	A	10: 88,558,667 (GRCm38)	D266V	probably damaging	Het
Myocos	T	C	1: 162,647,494 (GRCm38)	N48S	unknown	Het
Naf1	G	A	8: 66,889,376 (GRCm38)	G551E	probably damaging	Het
Nrarp	A	G	2: 25,181,238 (GRCm38)	N43S	possibly damaging	Het
Or4a80	A	G	2: 89,751,944 (GRCm38)	S295P	possibly damaging	Het
Or5p52	G	A	7: 107,903,023 (GRCm38)	C102Y	probably benign	Het
Or7a40	A	C	16: 16,673,573 (GRCm38)	M136R	probably damaging	Het
Or7g19	T	A	9: 18,945,009 (GRCm38)	Y120*	probably null	Het
Or8b57	T	A	9: 40,092,712 (GRCm38)	M85L	probably damaging	Het
Padi3	T	A	4: 140,798,142 (GRCm38)	T177S	possibly damaging	Het
Pde3b	A	G	7: 114,491,440 (GRCm38)	M305V	probably damaging	Het
Pde6a	T	A	18: 61,281,509 (GRCm38)		probably null	Het
Plscr4	C	T	9: 92,490,790 (GRCm38)	R322*	probably null	Het
Prph	A	G	15: 99,057,872 (GRCm38)	T446A	probably damaging	Het
Pwwp2b	T	C	7: 139,255,324 (GRCm38)	V227A	probably benign	Het
Rev3l	T	C	10: 39,823,902 (GRCm38)	I1465T	possibly damaging	Het
Rin1	A	G	19: 5,052,191 (GRCm38)	S243G	probably benign	Het
Ripor3	A	T	2: 167,989,426 (GRCm38)	I485N	probably benign	Het
Rnpc3	G	T	3: 113,629,951 (GRCm38)	P35Q	probably damaging	Het
Sbpl	G	T	17: 23,953,262 (GRCm38)	Q228K	unknown	Het
Scn11a	A	C	9: 119,784,111 (GRCm38)	N804K	probably damaging	Het
Selenoo	A	G	15: 89,096,816 (GRCm38)	T453A	probably damaging	Het
Sez6	C	T	11: 77,976,902 (GRCm38)	P882S	probably damaging	Het
Skint5	C	T	4: 113,942,726 (GRCm38)	R82H	possibly damaging	Het
Slc18a2	A	C	19: 59,263,161 (GRCm38)	T115P	probably benign	Het
Slc1a2	A	G	2: 102,743,956 (GRCm38)	D237G	probably benign	Het
Spidr	T	C	16: 16,114,865 (GRCm38)	S184G	probably damaging	Het
Stag3	A	T	5: 138,301,443 (GRCm38)	Q872L	probably benign	Het
Suds3	T	C	5: 117,115,749 (GRCm38)		probably benign	Het
Sv2c	T	A	13: 95,986,820 (GRCm38)	K382*	probably null	Het
Taf2	T	C	15: 55,065,930 (GRCm38)	I77V	probably benign	Het
Tcof1	G	C	18: 60,829,051 (GRCm38)	A702G	possibly damaging	Het
Tdrd3	G	T	14: 87,472,200 (GRCm38)	C100F	probably damaging	Het
Tek	T	A	4: 94,827,716 (GRCm38)	H458Q	possibly damaging	Het
Tes	C	A	6: 17,099,744 (GRCm38)	P246Q	probably damaging	Het
Tgif1	A	T	17: 70,849,608 (GRCm38)		probably null	Het
Tlr11	A	T	14: 50,361,828 (GRCm38)	N424Y	probably damaging	Het
Tmc8	A	T	11: 117,792,127 (GRCm38)	N626I	probably damaging	Het
Tmem132c	T	A	5: 127,564,088 (GRCm38)	*1108K	probably null	Het
Trip12	C	T	1: 84,760,806 (GRCm38)	G776D	probably damaging	Het
Tssk1	A	G	16: 17,894,447 (GRCm38)	E32G	probably benign	Het
Ube2o	T	C	11: 116,543,910 (GRCm38)	D575G	probably damaging	Het
Uckl1	A	T	2: 181,574,667 (GRCm38)	M16K	probably damaging	Het
Zfp948	A	T	17: 21,587,723 (GRCm38)	E392D	probably benign	Het
Zmynd8	G	A	2: 165,842,831 (GRCm38)	T167I	probably damaging	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
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
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'- ATGTGGTAAAGGCTCTTGTGGAAC -3'
(R):5'- GACACACTTACTCATGTCAGCC -3'

Sequencing Primer
(F):5'- CACATGAAGCAAGCATGATTAGAC -3'
(R):5'- CATGGAGCTTGTGTCAACGC -3'

Posted On

2019-12-03