Mutagenetix > Incidental Mutation

Incidental Mutation 'R9049:Tnks'

688244

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34826460-34965690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34841778 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1109 (K1109R)

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: K1109R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: K1109R

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

Meta Mutation Damage Score

0.3780

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (64/64)

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
2010111I01Rik	A	G	13: 63,061,038	Y323C	probably benign	Het
3110009E18Rik	A	G	1: 120,188,170	I118V	probably null	Het
3110043O21Rik	A	G	4: 35,192,964	I455T	unknown	Het
Abcc9	A	G	6: 142,682,932	L362P	probably damaging	Het
Adam7	C	A	14: 68,525,225	V184F	probably benign	Het
Adgre4	T	C	17: 55,785,094	I118T	probably benign	Het
Akap9	T	C	5: 4,064,597	L3292P		Het
Akr1b10	A	G	6: 34,396,626	E308G	possibly damaging	Het
Ash1l	T	C	3: 89,007,364	V1767A	probably benign	Het
Bpifb3	C	A	2: 153,925,890	N294K	probably benign	Het
Bpifb5	A	G	2: 154,228,176	N182S	probably benign	Het
Camkmt	A	G	17: 85,402,484	I205M	possibly damaging	Het
Ccdc88b	C	T	19: 6,849,074	R1091Q	probably benign	Het
Cfap58	A	T	19: 48,026,718		probably null	Het
Clca1	T	A	3: 145,027,382	I122L	probably benign	Het
Col6a3	T	A	1: 90,779,344	S2623C	unknown	Het
Cpne5	A	G	17: 29,160,358	S484P	probably damaging	Het
Cyp4f39	T	A	17: 32,486,991	L352Q	probably damaging	Het
Dcun1d1	T	C	3: 35,897,849	N183D	probably benign	Het
Dgkg	A	G	16: 22,600,588	V54A	probably benign	Het
Dnah12	T	A	14: 26,722,120	D561E	probably benign	Het
Dnah6	A	C	6: 73,142,292	L1536R	probably damaging	Het
Gm15448	T	A	7: 3,816,891	T676S	unknown	Het
Gm21834	G	A	17: 57,741,831	T130I	possibly damaging	Het
Hectd4	T	A	5: 121,313,892	V434E	possibly damaging	Het
Htr3a	C	A	9: 48,899,787	V459L	probably damaging	Het
Lonp2	T	C	8: 86,709,107	V657A	probably benign	Het
Mdfi	C	A	17: 47,824,554	V84L	probably damaging	Het
Mdm1	C	T	10: 118,146,700	T80M	probably benign	Het
Muc5ac	A	C	7: 141,808,975	I2008L	unknown	Het
Nomo1	A	G	7: 46,066,173	D681G	probably benign	Het
Olfr1030	A	G	2: 85,983,891	E17G	possibly damaging	Het
Olfr127	G	A	17: 37,903,873	W109*	probably null	Het
Olfr193	T	G	16: 59,110,400	D70A	probably damaging	Het
Olfr366	C	G	2: 37,219,947	H153D	probably damaging	Het
Olfr406	A	G	11: 74,270,289	K300R	possibly damaging	Het
Olfr860	T	C	9: 19,845,749	Y290C	probably damaging	Het
Olfr979	G	T	9: 40,000,623	N201K	possibly damaging	Het
Pip5k1c	C	A	10: 81,316,876		probably benign	Het
Pipox	A	G	11: 77,881,554	I330T	probably damaging	Het
Pld3	C	T	7: 27,535,868	V312M	possibly damaging	Het
Pnisr	T	A	4: 21,854,391	W12R	unknown	Het
Polr3e	A	G	7: 120,939,239	K410R	probably benign	Het
Ppif	G	T	14: 25,694,412	V61L	possibly damaging	Het
Pramel5	T	C	4: 144,273,916	N30S	probably benign	Het
Prex2	T	G	1: 11,185,906	L1167R	probably damaging	Het
Prkacb	A	T	3: 146,755,763		probably benign	Het
Prl3a1	T	A	13: 27,276,184	L217H	probably damaging	Het
Prop1	G	C	11: 50,952,121	Q80E	probably damaging	Het
Psma1	T	C	7: 114,266,529	I214V	probably benign	Het
Ptgfr	T	A	3: 151,835,767	I35F	probably benign	Het
Rcvrn	A	T	11: 67,695,742	Y109F	probably benign	Het
Repin1	A	G	6: 48,597,712	D525G	possibly damaging	Het
Slc12a2	A	T	18: 57,921,791	R835*	probably null	Het
Sqle	T	C	15: 59,317,862	F118L	probably benign	Het
Stard9	A	T	2: 120,679,937	Y333F	probably benign	Het
Tbc1d16	G	A	11: 119,209,264	R95C	probably damaging	Het
Tln1	C	A	4: 43,549,786	E542*	probably null	Het
Tmem161b	G	T	13: 84,294,635	A407S	probably benign	Het
Tnc	G	T	4: 64,000,010	D1221E	possibly damaging	Het
Tpp2	T	C	1: 43,953,342	V194A	possibly damaging	Het
Ust	G	A	10: 8,307,454	Q162*	probably null	Het
Utp15	T	C	13: 98,259,270	Y68C	probably damaging	Het
Vcan	A	T	13: 89,678,105	H3193Q	probably damaging	Het
Vmn2r55	T	C	7: 12,684,981	Y4C	probably 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
R7970:Tnks	UTSW	8	34855926	critical splice donor site	probably null
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
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'- ACAGTCACATTTAAAGGCTGGC -3'
(R):5'- TGCCTTTGGTATATCTGCTTACAG -3'

Sequencing Primer
(F):5'- CACATTTAAAGGCTGGCTGCTG -3'
(R):5'- AAATAGTGTAGATTGCTCTGAGCTG -3'

Posted On

2021-11-19