Mutagenetix > Incidental Mutations

Incidental Mutation 'R8343:Tnks'

645021

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 #

R8343 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34826460-34965690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34834584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1244 (F1244L)

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: F1244L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: F1244L

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 damaging
Transcript: ENSMUST00000210014
AA Change: F100L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (64/66)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars	T	A	8: 111,040,729	W156R	probably damaging	Het
Acvr1	T	A	2: 58,474,274		probably null	Het
Adamts2	G	T	11: 50,603,488	V130L	probably damaging	Het
Adcy4	C	T	14: 55,775,240	V541I	probably benign	Het
Adgrl2	C	T	3: 148,846,906	V654I	probably damaging	Het
Ago3	T	A	4: 126,376,928	K258*	probably null	Het
Akap11	A	T	14: 78,512,489	S819R		Het
Alox5ap	T	C	5: 149,287,609	F121L	probably damaging	Het
Baz2b	A	T	2: 59,901,514	M2060K	probably damaging	Het
C030005K15Rik	T	C	10: 97,725,552	I106V	unknown	Het
Carmil2	T	A	8: 105,691,084	S604T	probably benign	Het
Cdhr1	T	C	14: 37,091,978	T164A	probably benign	Het
Dhx30	T	C	9: 110,085,501	E976G	possibly damaging	Het
Dnah17	C	T	11: 118,114,195	G788R	probably benign	Het
Dus2	T	C	8: 105,996,013		probably benign	Het
Etv6	T	C	6: 134,248,754	V316A	possibly damaging	Het
Fabp9	T	G	3: 10,194,025	K107T	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Gapdh	A	G	6: 125,163,263	V92A	probably benign	Het
Gfy	A	G	7: 45,176,595	L453P	probably damaging	Het
Gm6588	C	T	5: 112,450,787	T400I	probably benign	Het
Gp2	C	T	7: 119,442,787	C505Y	probably benign	Het
Gtpbp8	T	C	16: 44,746,313	R9G	probably benign	Het
Hipk4	G	T	7: 27,523,608	R31L	probably damaging	Het
Htt	T	A	5: 34,905,724	M2900K	probably damaging	Het
Ighv1-20	T	C	12: 114,724,190	I6V	probably benign	Het
Il17d	C	T	14: 57,542,480	T153I	probably damaging	Het
Izumo3	T	A	4: 92,146,344	N117I	probably damaging	Het
Kcnh7	T	C	2: 62,850,535	D236G	probably benign	Het
Kmt2d	T	C	15: 98,852,597	D2405G	unknown	Het
Map4k2	T	C	19: 6,346,566	W533R	probably damaging	Het
Matn1	C	A	4: 130,945,989	Y89*	probably null	Het
Mettl18	T	A	1: 163,996,940	Y277N	probably damaging	Het
Muc5b	G	A	7: 141,864,161	G3615S	probably benign	Het
Mycbp2	A	C	14: 103,160,675		probably null	Het
Myh4	T	A	11: 67,252,564	S1041T	possibly damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naaladl1	T	C	19: 6,109,673	V378A	possibly damaging	Het
Nars	T	C	18: 64,504,387	D374G	probably benign	Het
Neb	C	T	2: 52,308,271		probably null	Het
Neurl1b	A	G	17: 26,431,991	Y79C	probably damaging	Het
Nynrin	A	G	14: 55,863,791	T306A	probably benign	Het
Ola1	G	T	2: 73,199,401	R125S	probably damaging	Het
Olfr105-ps	T	A	17: 37,383,231	F221L	probably benign	Het
Olfr644	A	T	7: 104,068,176	V285D	probably damaging	Het
Pak1ip1	C	A	13: 41,004,738	T29K	probably benign	Het
Podnl1	T	A	8: 84,130,773	L337H		Het
Rictor	T	G	15: 6,778,319		probably null	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Sel1l2	T	C	2: 140,230,833	I627M	probably benign	Het
Sh3rf2	T	C	18: 42,111,428	S352P	probably damaging	Het
Slc6a6	G	A	6: 91,726,243	W199*	probably null	Het
Smc2	T	A	4: 52,450,965	V261E	probably benign	Het
Sorcs3	G	A	19: 48,704,369		probably null	Het
Spdye4a	T	A	5: 143,225,807	M1L	probably benign	Het
Stag1	T	C	9: 100,757,766	I125T	possibly damaging	Het
Stx8	T	A	11: 68,020,988	D177E	probably benign	Het
Sun2	T	C	15: 79,738,924	Y71C	probably damaging	Het
Tmed9	T	C	13: 55,594,804	F129L	probably benign	Het
Tmem216	T	A	19: 10,551,972	T17S	probably benign	Het
Tmpo	A	T	10: 91,162,112	N604K	probably benign	Het
Tmprss11f	T	A	5: 86,533,807	I196F	probably benign	Het
Tspan2	T	C	3: 102,768,910	C212R	probably damaging	Het
Tspan4	A	G	7: 141,491,805	D155G	probably damaging	Het
Ttc6	T	C	12: 57,660,496	F730L	possibly damaging	Het
Txnrd2	G	A	16: 18,426,541	A33T	unknown	Het
Uhrf1bp1l	T	C	10: 89,791,419	S449P	probably benign	Het
Wnk1	C	T	6: 119,963,493	R761H	probably damaging	Het
Zfp217	T	C	2: 170,120,104	D101G	probably damaging	Het
Zfp281	T	C	1: 136,627,882	F866S	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
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
Z1177:Tnks	UTSW	8	34965145	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGACTTGTTCGTGCTGTCAAC -3'
(R):5'- CACACAGACTTGAAAGTAGCATTTC -3'

Sequencing Primer
(F):5'- GTTCGTGCTGTCAACATACCTG -3'
(R):5'- TGAAAGTAGCATTTCAATTAACTTGC -3'

Posted On

2020-09-02