Mutagenetix > Incidental Mutations

Incidental Mutation 'R7961:Tnks2'

650142

Institutional Source

Beutler Lab

Gene Symbol

Tnks2

Ensembl Gene

ENSMUSG00000024811

Gene Name

tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36834232-36893477 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36852501 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 194 (M194K)

Ref Sequence

ENSEMBL: ENSMUSP00000025729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025729]

Predicted Effect

probably benign
Transcript: ENSMUST00000025729
AA Change: M194K

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025729
Gene: ENSMUSG00000024811
AA Change: M194K

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
ANK	57	86	8.07e-5	SMART
ANK	90	119	1.78e-6	SMART
ANK	123	152	6.46e-4	SMART
ANK	210	239	1.76e-5	SMART
ANK	243	272	3.91e-3	SMART
ANK	276	305	3.23e-4	SMART
ANK	363	395	1.57e-2	SMART
ANK	399	428	4.5e-3	SMART
ANK	432	461	4.89e-4	SMART
ANK	525	554	1.43e-5	SMART
ANK	558	587	6.55e-5	SMART
ANK	591	620	1.24e-5	SMART
low complexity region	641	659	N/A	INTRINSIC
ANK	678	707	1.69e-7	SMART
ANK	711	740	3.65e-3	SMART
ANK	744	773	3.36e-2	SMART
low complexity region	822	863	N/A	INTRINSIC
SAM	870	936	1.03e-10	SMART
Pfam:PARP	952	1157	4.9e-28	PFAM

Meta Mutation Damage Score

0.2058

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele are viable but display decreased body weight and abnormal adipocyte glucose uptake in response to insulin stimulation. Mice homozygous for a different null allele show partial postnatal lethality as well as decreased body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,828,870	N751K	possibly damaging	Het
Bckdha	G	A	7: 25,631,478	R288W	probably damaging	Het
C87414	T	C	5: 93,636,684	D307G	probably damaging	Het
Ccng1	G	A	11: 40,751,269	H229Y	probably benign	Het
Cenpn	C	A	8: 116,937,237	T256N	probably benign	Het
Ciart	A	G	3: 95,881,317	V70A	possibly damaging	Het
Clcc1	A	G	3: 108,661,458	N36S	probably damaging	Het
Cntnap1	G	A	11: 101,178,295	A192T	probably benign	Het
Dmrt1	T	A	19: 25,545,881	S199T	possibly damaging	Het
Dmrt3	T	C	19: 25,610,908	V37A	possibly damaging	Het
Dock1	T	A	7: 134,745,057	D239E	possibly damaging	Het
Dyrk3	A	G	1: 131,136,258		probably null	Het
Engase	A	G	11: 118,486,860	D571G	possibly damaging	Het
Gm45871	C	T	18: 90,591,759	H374Y	probably damaging	Het
Icam5	T	C	9: 21,038,755	V870A	possibly damaging	Het
Idh2	T	C	7: 80,098,253	H233R	probably benign	Het
Kcna5	A	G	6: 126,533,554	L537P	probably benign	Het
Krt71	T	C	15: 101,735,442	I454V	probably damaging	Het
Krtap5-4	C	T	7: 142,303,934	Q114*	probably null	Het
Loxl3	T	C	6: 83,050,809	F734S	possibly damaging	Het
Lpcat1	C	T	13: 73,511,379	T420I	probably damaging	Het
Mia2	T	A	12: 59,159,639		probably null	Het
Neurod4	A	T	10: 130,270,487	V306D	possibly damaging	Het
Nkiras2	A	T	11: 100,619,802		probably benign	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Ntrk3	T	A	7: 78,453,328	D408V	probably benign	Het
Nubpl	T	A	12: 52,181,297	L168*	probably null	Het
Odf1	A	G	15: 38,226,596	I247V	unknown	Het
Olfr1170	C	A	2: 88,224,689	M114I	possibly damaging	Het
Olfr1260	A	G	2: 89,977,787	Q3R	probably benign	Het
Olfr1298	G	A	2: 111,645,937	S20F	probably damaging	Het
Pcsk1	T	C	13: 75,126,839	S516P	probably benign	Het
Pikfyve	A	G	1: 65,255,134	D1411G	probably damaging	Het
Polm	T	C	11: 5,830,155	D294G	possibly damaging	Het
Ppcs	A	T	4: 119,419,065	S281T	probably benign	Het
Pspc1	G	A	14: 56,771,847	Q177*	probably null	Het
Rbm33	G	A	5: 28,394,608	G185R		Het
Satb2	A	G	1: 56,871,758	S243P	probably benign	Het
Serinc5	T	C	13: 92,661,191		probably null	Het
Sgsm1	T	C	5: 113,282,644	T292A	probably damaging	Het
Smad3	G	A	9: 63,650,282	R420C	possibly damaging	Het
Sntg1	C	T	1: 8,363,570	V486I	probably damaging	Het
Tep1	A	G	14: 50,824,230	S2610P	possibly damaging	Het
Tmem200a	A	G	10: 25,994,006	S122P	probably damaging	Het
Trav14d-3-dv8	A	C	14: 53,078,767	Q28P	probably damaging	Het
Trpm5	T	C	7: 143,080,369	E700G	probably benign	Het
Ubqln3	T	A	7: 104,142,590	I98L	probably benign	Het
Usp25	A	G	16: 77,059,262	I248V	probably damaging	Het
Vmn1r28	T	C	6: 58,265,193	V7A	probably benign	Het
Zfp60	G	A	7: 27,748,456	G183D	probably benign	Het

Other mutations in Tnks2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Tnks2	APN	19	36871633	missense	probably benign	0.00
IGL01977:Tnks2	APN	19	36872590	critical splice donor site	probably null
IGL02389:Tnks2	APN	19	36884103	missense	probably benign	0.32
IGL02653:Tnks2	APN	19	36872451	missense	probably damaging	1.00
IGL02678:Tnks2	APN	19	36845743	missense	possibly damaging	0.63
R0053:Tnks2	UTSW	19	36875365	missense	probably damaging	1.00
R0053:Tnks2	UTSW	19	36875365	missense	probably damaging	1.00
R0426:Tnks2	UTSW	19	36852821	missense	probably damaging	1.00
R0436:Tnks2	UTSW	19	36849358	missense	possibly damaging	0.51
R0591:Tnks2	UTSW	19	36872562	missense	probably damaging	0.99
R0648:Tnks2	UTSW	19	36862074	splice site	probably null
R0894:Tnks2	UTSW	19	36890050	critical splice donor site	probably null
R1397:Tnks2	UTSW	19	36880501	splice site	probably benign
R1459:Tnks2	UTSW	19	36845531	splice site	probably benign
R1674:Tnks2	UTSW	19	36871622	missense	probably benign	0.03
R1742:Tnks2	UTSW	19	36876261	missense	probably damaging	1.00
R1928:Tnks2	UTSW	19	36845668	nonsense	probably null
R2025:Tnks2	UTSW	19	36866066	missense	probably damaging	0.99
R2898:Tnks2	UTSW	19	36872590	critical splice donor site	probably null
R4422:Tnks2	UTSW	19	36845653	missense	probably damaging	1.00
R4676:Tnks2	UTSW	19	36875271	nonsense	probably null
R5202:Tnks2	UTSW	19	36888852	missense	probably damaging	1.00
R5357:Tnks2	UTSW	19	36849290	splice site	silent
R5467:Tnks2	UTSW	19	36881776	missense	probably damaging	1.00
R5550:Tnks2	UTSW	19	36862346	missense	probably damaging	1.00
R6119:Tnks2	UTSW	19	36879352	missense	possibly damaging	0.79
R6219:Tnks2	UTSW	19	36866204	intron	probably benign
R7270:Tnks2	UTSW	19	36859145	missense
R7309:Tnks2	UTSW	19	36852536	missense	probably damaging	1.00
R7310:Tnks2	UTSW	19	36879439	missense	probably benign	0.12
R7516:Tnks2	UTSW	19	36871664	missense	possibly damaging	0.85
R7823:Tnks2	UTSW	19	36852554	critical splice donor site	probably null
R7951:Tnks2	UTSW	19	36862155	missense
R8009:Tnks2	UTSW	19	36852501	missense	probably benign	0.15
R8193:Tnks2	UTSW	19	36854953	missense	possibly damaging	0.70
Z1177:Tnks2	UTSW	19	36834577	missense	probably benign	0.20
Z1177:Tnks2	UTSW	19	36888880	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TGTAATGAGATCTGACGCCC -3'
(R):5'- ATGGAGTTGACTGAAACAGTAACC -3'

Sequencing Primer
(F):5'- GTAATGAGATCTGACGCCCTCTTTTG -3'
(R):5'- AGAAAATCTAACCATGAGCTCATTG -3'

Posted On

2020-09-15