Mutagenetix > Incidental Mutations

Incidental Mutation 'R8870:Tnks'

676210

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8870 (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 34847279 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

0.9496

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,323,721	N1082Y	possibly damaging	Het
3110002H16Rik	A	G	18: 12,188,561	E473G	probably benign	Het
4930444P10Rik	G	A	1: 16,066,227	Q122*	probably null	Het
Ak8	C	T	2: 28,735,590	T215M	probably benign	Het
Ano3	T	A	2: 110,783,729	I210F	probably benign	Het
Atg9b	A	G	5: 24,387,034	F656L	probably damaging	Het
Bscl2	T	C	19: 8,847,429	M292T	probably benign	Het
Cachd1	G	T	4: 100,897,781	C143F	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Ccnb1ip1	C	T	14: 50,791,993	G204E	probably benign	Het
Ccr1	T	A	9: 123,963,985	L169F	probably benign	Het
Cdc42bpg	A	G	19: 6,314,520	N593D	possibly damaging	Het
Cdh20	T	C	1: 104,945,323	S265P	probably damaging	Het
Cenpk	A	G	13: 104,230,857	E67G	probably damaging	Het
Cep76	A	T	18: 67,640,120	I36K	probably benign	Het
Clock	A	T	5: 76,235,785	I507N	probably benign	Het
Cpne1	T	C	2: 156,078,953	T110A	probably benign	Het
Crybg2	A	T	4: 134,091,214	E1427V	possibly damaging	Het
Ctu1	A	C	7: 43,675,322	K62Q	probably damaging	Het
Drd5	C	A	5: 38,320,404	Q247K	possibly damaging	Het
Ect2l	A	T	10: 18,138,860	L808*	probably null	Het
Ficd	A	T	5: 113,738,187	D141V	probably damaging	Het
Fnbp1	A	G	2: 31,048,210	Y148H		Het
Gm11639	A	G	11: 104,900,674	T2905A	probably benign	Het
Gm14409	T	A	2: 177,265,519	Q62L	probably benign	Het
Gm49368	A	G	7: 128,101,513	K485R	probably benign	Het
Gpr75	C	A	11: 30,891,860	A255D	probably benign	Het
Hcrtr2	G	T	9: 76,246,384	A242D	probably damaging	Het
Iapp	G	T	6: 142,298,876	V10F	probably benign	Het
Ikzf2	A	G	1: 69,683,258	S31P	possibly damaging	Het
Il18rap	G	A	1: 40,525,120		probably benign	Het
Irak2	A	T	6: 113,686,941	N423Y	probably damaging	Het
Itpkb	A	G	1: 180,332,179		probably benign	Het
Itpr1	A	G	6: 108,388,211	I874M	probably damaging	Het
Kif26b	G	T	1: 178,865,029	V512F	probably damaging	Het
Lhx6	G	A	2: 36,105,220		probably benign	Het
Lrfn1	A	G	7: 28,459,493	E279G	possibly damaging	Het
Masp1	A	C	16: 23,496,132	D126E	probably damaging	Het
Mef2a	T	C	7: 67,240,428	I299V	probably benign	Het
Midn	A	G	10: 80,150,105	S10G	probably damaging	Het
Mrps12	A	T	7: 28,739,936	L118Q	probably damaging	Het
Mxi1	G	A	19: 53,371,695	G283S	probably damaging	Het
Mzf1	A	G	7: 13,052,909	V78A	probably benign	Het
Ncoa6	A	G	2: 155,421,158	V452A	probably damaging	Het
Neb	A	G	2: 52,161,469	Y6600H	probably damaging	Het
Nlgn2	A	G	11: 69,825,471	L748P	possibly damaging	Het
Nnmt	A	T	9: 48,603,501	L72H	probably damaging	Het
Nrxn3	A	G	12: 90,204,786	T964A	probably benign	Het
Olfr1277	T	A	2: 111,270,119	I83F	possibly damaging	Het
Olfr1388	T	A	11: 49,444,523	V224E	probably damaging	Het
Olfr197	G	A	16: 59,185,767	P239S	unknown	Het
Olfr251	A	G	9: 38,378,424	N175S	probably benign	Het
Olfr360	A	G	2: 37,068,970	I222V	probably benign	Het
Olfr395	T	G	11: 73,906,899	M198L	probably benign	Het
Olfr952	A	G	9: 39,426,252	V273A	probably damaging	Het
Osbpl11	A	G	16: 33,214,480	N280D	probably benign	Het
Peg10	A	T	6: 4,754,825	Y202F	probably damaging	Het
Pick1	A	G	15: 79,255,907	R469G	unknown	Het
Rev3l	A	G	10: 39,862,790	I2847V	probably damaging	Het
Rnaseh2b	T	A	14: 62,332,168	L18Q	probably damaging	Het
Rpl19	A	G	11: 98,029,789	Y122C	probably benign	Het
Selp	A	G	1: 164,137,218	Y483C	probably damaging	Het
Setd2	T	A	9: 110,594,253	F347L		Het
Snx14	A	G	9: 88,413,488	I208T	probably benign	Het
Spag16	T	A	1: 69,996,858	F348L	probably benign	Het
Spata22	A	T	11: 73,340,265	N115I	probably damaging	Het
Spata31	T	C	13: 64,921,004	V322A	probably benign	Het
Spata5	A	G	3: 37,448,512	N607D	probably benign	Het
Stc1	A	T	14: 69,038,376	H206L	probably benign	Het
Tas2r129	A	G	6: 132,951,559	D153G	probably damaging	Het
Tmem196	T	A	12: 120,018,533	N167K	possibly damaging	Het
Tmpo	T	C	10: 91,151,719	T356A	probably damaging	Het
Ttbk1	A	C	17: 46,470,735	L364R	probably damaging	Het
Vmn1r176	A	T	7: 23,835,055	N224K	probably damaging	Het
Vmn1r36	T	A	6: 66,716,736	M52L	probably benign	Het
Vmn2r93	A	T	17: 18,305,058	H326L	possibly damaging	Het
Wdr78	C	T	4: 103,087,332		probably null	Het
Wrn	A	T	8: 33,329,192	M244K	probably benign	Het
Zcchc24	C	T	14: 25,757,154	A102T	probably benign	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
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
Z1177:Tnks	UTSW	8	34965145	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TTCAGGCAGCTAACAAGCAAGG -3'
(R):5'- AGCATAACTTGGAAGTGCCTG -3'

Sequencing Primer
(F):5'- GCAGCTAACAAGCAAGGTAAAAAC -3'
(R):5'- TCATCTGTACAGGCAAGTGTC -3'

Posted On

2021-07-15