Mutagenetix > Incidental Mutation

Incidental Mutation 'R7970:Tnks'

650559

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

046013-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7970 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34826460-34965690 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 34855926 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 null
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

Meta Mutation Damage Score

0.9503

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (57/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,033,160	N312S	probably benign	Het
Acnat1	A	G	4: 49,449,266	F167L	probably damaging	Het
Acsbg2	A	G	17: 56,849,728	Y437H	probably benign	Het
Amotl2	C	T	9: 102,723,769	T345I	probably benign	Het
Anapc2	T	C	2: 25,273,287	S179P	possibly damaging	Het
Arhgef1	G	A	7: 24,916,881	D317N	probably damaging	Het
Arrdc4	G	A	7: 68,741,072	P307S	probably damaging	Het
B3gnt2	T	C	11: 22,836,255	Y311C	probably damaging	Het
Brf1	T	C	12: 112,964,200	D453G	probably damaging	Het
Clpsl2	G	A	17: 28,550,728	G55R	probably damaging	Het
Dao	AGG	AG	5: 114,015,209		probably benign	Het
Dst	G	T	1: 34,182,747	C2544F	possibly damaging	Het
Efhc1	C	T	1: 20,951,795	T21M	probably benign	Het
Efs	A	G	14: 54,920,503		probably null	Het
Evl	C	T	12: 108,681,524	R295*	probably null	Het
Fam171a2	A	T	11: 102,437,866	V689E	possibly damaging	Het
Fam184a	T	C	10: 53,699,325	T63A	probably damaging	Het
Fam186a	T	C	15: 99,933,586	D2897G	unknown	Het
Fbxw11	T	G	11: 32,722,101	S224A	probably benign	Het
Flnc	G	T	6: 29,447,526	E1109D	possibly damaging	Het
Foxn4	A	G	5: 114,263,007		probably null	Het
Gm19410	A	G	8: 35,815,647	E2009G	probably benign	Het
Gm9958	A	G	5: 90,367,709		probably benign	Het
Gprin3	C	T	6: 59,353,165	R719Q	possibly damaging	Het
Grip2	A	T	6: 91,786,532	I147N	probably benign	Het
H2-DMb2	A	G	17: 34,150,598	R239G	probably benign	Het
Hydin	A	C	8: 110,309,091	D138A	probably damaging	Het
Ikbkap	A	T	4: 56,771,466	Y944N	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,436,913		probably benign	Het
Lgr6	A	G	1: 134,993,985	I484T	probably benign	Het
Mkrn2	T	A	6: 115,617,308	C327S	probably damaging	Het
Mnt	C	T	11: 74,842,210	A288V	probably damaging	Het
Nckap5	T	A	1: 126,025,021	K1265*	probably null	Het
Ncoa3	A	T	2: 166,051,357	H194L	probably benign	Het
Ogn	A	T	13: 49,609,266	H28L	probably benign	Het
Olfr1160	A	T	2: 88,005,825	F309I	probably benign	Het
Olfr1453	T	A	19: 13,027,694	I212F	probably damaging	Het
Olfr680-ps1	C	A	7: 105,091,349	V97L	probably benign	Het
Pclo	T	C	5: 14,714,478	S1037P		Het
Phlpp1	T	A	1: 106,173,285	Y428N	probably damaging	Het
Ptpre	A	G	7: 135,678,319	T591A	possibly damaging	Het
Rtn1	A	T	12: 72,308,874	D99E	probably benign	Het
Scn7a	A	T	2: 66,675,829	I1572N	probably damaging	Het
Sema3a	T	A	5: 13,599,407	M708K	possibly damaging	Het
Slc12a4	G	A	8: 105,951,605	R319W	possibly damaging	Het
Slc9a2	T	C	1: 40,726,214	Y255H	probably damaging	Het
Spock3	T	C	8: 63,345,715	F254L	probably damaging	Het
St6gal1	G	A	16: 23,357,835	A393T	probably benign	Het
St6galnac2	T	C	11: 116,690,343	D51G	probably benign	Het
Stard13	T	A	5: 151,063,261	K261N	possibly damaging	Het
Tlk1	T	C	2: 70,752,300	R162G	possibly damaging	Het
Tlr2	T	C	3: 83,837,894	D294G	probably benign	Het
Trip4	A	G	9: 65,839,016	S533P	probably damaging	Het
Ttc3	T	A	16: 94,457,364	W1674R	probably damaging	Het
Vmn2r114	T	C	17: 23,311,212	N74D	probably benign	Het
Zcchc11	G	A	4: 108,486,454	S221N	probably benign	Het
Zdbf2	T	C	1: 63,304,171	Y570H	possibly damaging	Het

Other mutations in Tnks

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Tnks	APN	8	34861689	splice site	probably benign
IGL00901:Tnks	APN	8	34838395	nonsense	probably null
IGL01448:Tnks	APN	8	34839982	missense	probably damaging	1.00
IGL01455:Tnks	APN	8	34940900	missense	probably damaging	0.99
IGL01962:Tnks	APN	8	34869524	missense	probably damaging	1.00
IGL02088:Tnks	APN	8	34839994	missense	possibly damaging	0.50
IGL02260:Tnks	APN	8	34842983	missense	probably damaging	0.99
IGL02454:Tnks	APN	8	34831728	unclassified	probably benign
IGL02486:Tnks	APN	8	34851198	missense	probably damaging	1.00
IGL02612:Tnks	APN	8	34849299	missense	possibly damaging	0.48
IGL03179:Tnks	APN	8	34848670	missense	probably benign	0.38
IGL03404:Tnks	APN	8	34940704	missense	probably damaging	1.00
R0256:Tnks	UTSW	8	34861547	missense	probably benign	0.07
R0265:Tnks	UTSW	8	34839970	nonsense	probably null
R0334:Tnks	UTSW	8	34853259	nonsense	probably null
R0414:Tnks	UTSW	8	34853309	missense	probably damaging	1.00
R0526:Tnks	UTSW	8	34853303	missense	probably benign	0.23
R0622:Tnks	UTSW	8	34940822	missense	probably damaging	1.00
R1445:Tnks	UTSW	8	34834603	splice site	probably benign
R1618:Tnks	UTSW	8	34875276	missense	probably damaging	1.00
R1779:Tnks	UTSW	8	34857518	missense	probably benign	0.18
R1919:Tnks	UTSW	8	34875232	missense	probably damaging	1.00
R1938:Tnks	UTSW	8	34838530	missense	probably damaging	1.00
R2018:Tnks	UTSW	8	34851106	missense	probably damaging	1.00
R2198:Tnks	UTSW	8	34848649	missense	probably benign
R2198:Tnks	UTSW	8	34873067	missense	probably benign	0.29
R2925:Tnks	UTSW	8	34965661	missense	unknown
R3828:Tnks	UTSW	8	34873178	missense	probably damaging	1.00
R3913:Tnks	UTSW	8	34873074	missense	probably damaging	0.99
R3916:Tnks	UTSW	8	34853361	missense	probably damaging	1.00
R3917:Tnks	UTSW	8	34853361	missense	probably damaging	1.00
R3930:Tnks	UTSW	8	34940812	missense	probably damaging	1.00
R4659:Tnks	UTSW	8	34849311	missense	possibly damaging	0.53
R4760:Tnks	UTSW	8	34851783	missense	probably benign	0.38
R5091:Tnks	UTSW	8	34841809	missense	probably benign	0.40
R5419:Tnks	UTSW	8	34965566	missense	unknown
R5558:Tnks	UTSW	8	34965665	start codon destroyed	probably null
R5582:Tnks	UTSW	8	34940861	missense	probably benign	0.14
R6035:Tnks	UTSW	8	34918461	missense	possibly damaging	0.93
R6035:Tnks	UTSW	8	34918461	missense	possibly damaging	0.93
R6495:Tnks	UTSW	8	34839966	critical splice donor site	probably null
R6527:Tnks	UTSW	8	34873093	missense	probably benign	0.36
R6991:Tnks	UTSW	8	34834493	missense	probably damaging	1.00
R7015:Tnks	UTSW	8	34838547	missense	probably benign	0.04
R7038:Tnks	UTSW	8	34851636	missense	probably damaging	0.99
R7057:Tnks	UTSW	8	34840014	missense	probably damaging	1.00
R7167:Tnks	UTSW	8	34849304	missense	probably damaging	0.98
R7250:Tnks	UTSW	8	34851758	missense	probably damaging	0.98
R7475:Tnks	UTSW	8	34831712	missense	probably damaging	1.00
R7790:Tnks	UTSW	8	34861540	missense	probably benign	0.01
R7818:Tnks	UTSW	8	34873028	missense	probably benign	0.03
R7909:Tnks	UTSW	8	34940704	missense	probably damaging	1.00
R8341:Tnks	UTSW	8	34873045	missense	probably damaging	1.00
R8343:Tnks	UTSW	8	34834584	missense	probably benign	0.03
R8870:Tnks	UTSW	8	34847279	critical splice donor site	probably null
R8936:Tnks	UTSW	8	34853347	nonsense	probably null
R9049:Tnks	UTSW	8	34841778	missense	probably damaging	0.96
R9080:Tnks	UTSW	8	34965312	small deletion	probably benign
R9182:Tnks	UTSW	8	34841751	critical splice donor site	probably null
R9211:Tnks	UTSW	8	34849335	missense	probably damaging	1.00
R9425:Tnks	UTSW	8	34873665	missense	probably damaging	1.00
R9649:Tnks	UTSW	8	34838935	missense	probably damaging	0.96
Z1177:Tnks	UTSW	8	34965145	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CGACTGTAATAGGCAAACTGTTC -3'
(R):5'- TCTGTGTCTGTGTGTACACCAC -3'

Sequencing Primer
(F):5'- GGGTGACCGATGACTCAATCTTC -3'
(R):5'- GTGTACACCACAAAAGCAACTCTG -3'

Posted On

2020-09-15