Mutagenetix > Incidental Mutation

Incidental Mutation 'R7909:Tnks'

610365

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 #

R7909 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34826460-34965690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34940704 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 290 (V290D)

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: V290D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: V290D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930412O13Rik	C	A	2: 9,883,857	P91Q	unknown	Het
Abhd4	C	T	14: 54,261,630	Q23*	probably null	Het
Acaca	T	A	11: 84,245,235	I472N	possibly damaging	Het
Angptl7	T	C	4: 148,496,210	N320S	probably benign	Het
Arrdc4	C	T	7: 68,745,176	E112K	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	GTGGTCACTGGTTCTGTGGTCACTGGTT	GTGGTCACTGGTTCTTTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,163		probably benign	Het
BC028528	TGGTCACTGGTTCTGTGGTCACTGGTT	TGGTCACTGGTTCTGGGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,164		probably benign	Het
BC028528	CACTGGTTCTGTGGT	CACTGGTTCTGTGGTGACTGGTTCTGTGGT	3: 95,888,168		probably benign	Het
BC028528	TGTGGTCACTGGTT	TGTGGTCACTGGTTCCGTGGTCACTGGTT	3: 95,888,177		probably benign	Het
Ccdc13	T	A	9: 121,833,860	M30L	probably benign	Het
Ceacam9	A	G	7: 16,723,868	Y102C	probably damaging	Het
Dennd4a	G	T	9: 64,872,993		probably null	Het
Dusp1	A	T	17: 26,507,612	S159T	probably benign	Het
Dyrk3	A	T	1: 131,129,587	V283E	probably damaging	Het
Fam208b	T	C	13: 3,573,765	I2062V	possibly damaging	Het
Fndc7	A	T	3: 108,862,916	S651T	probably benign	Het
Gcnt2	T	A	13: 40,860,450	H32Q	probably benign	Het
Gkn2	T	A	6: 87,375,894	H68Q	possibly damaging	Het
Gm11214	T	C	4: 63,662,687	K75R	probably damaging	Het
Gm15448	T	C	7: 3,821,709	K559R	unknown	Het
Gria4	G	T	9: 4,464,450	T504K	probably damaging	Het
Gstm4	T	A	3: 108,043,416	T90S	probably benign	Het
Hbs1l	G	A	10: 21,358,404		probably null	Het
Hdhd5	C	A	6: 120,531,191	R34S	probably benign	Het
Ighv10-1	A	T	12: 114,479,044	L107*	probably null	Het
Ints6	A	T	14: 62,759,330	H70Q	probably damaging	Het
K230010J24Rik	G	T	15: 76,046,841	R537L	possibly damaging	Het
Kcnc3	T	A	7: 44,595,687	I467N	probably damaging	Het
Klhl9	A	T	4: 88,721,001	D334E	probably benign	Het
Lama5	T	A	2: 180,192,276	N1427I	possibly damaging	Het
Lrch3	T	A	16: 33,009,293	F764L	probably benign	Het
Lyar	T	A	5: 38,224,728	V18E	probably damaging	Het
Maea	T	G	5: 33,370,474	F270C	possibly damaging	Het
Maea	C	T	5: 33,370,476	R271*	probably null	Het
Mttp	T	A	3: 138,118,417	K133*	probably null	Het
Nme6	T	A	9: 109,841,968	I92N	probably damaging	Het
Nqo2	T	A	13: 33,972,431	Y43N	probably damaging	Het
Nup153	C	T	13: 46,693,580	C791Y	probably damaging	Het
Ogdh	A	G	11: 6,313,965	I134V	possibly damaging	Het
Olfr703	G	A	7: 106,844,992	C127Y	probably benign	Het
Olfr777	G	T	10: 129,269,267	Q19K	probably benign	Het
Olfr875	T	C	9: 37,772,737	L26P	probably damaging	Het
Pde6b	A	T	5: 108,403,422	M191L	probably benign	Het
Plxdc1	A	T	11: 97,932,304	D370E	probably benign	Het
Pnldc1	C	A	17: 12,903,211	A187S	probably benign	Het
Psrc1	T	C	3: 108,385,251	V120A	probably damaging	Het
Rbpms	A	G	8: 33,864,359	S53P	probably damaging	Het
Rtl1	G	A	12: 109,590,177	L1743F	unknown	Het
Rtl1	T	A	12: 109,592,480	N975I	possibly damaging	Het
Rtn3	A	G	19: 7,456,462	S722P	possibly damaging	Het
Safb	A	G	17: 56,595,665	D187G	unknown	Het
Sept5	A	G	16: 18,624,622	V153A	probably damaging	Het
Sesn1	T	C	10: 41,811,116	V32A	probably benign	Het
Shank2	A	T	7: 144,411,394	H913L	probably damaging	Het
Slc19a1	T	A	10: 77,049,540	F425I	probably damaging	Het
Slc4a11	A	G	2: 130,692,300	M26T	probably benign	Het
Sybu	G	T	15: 44,673,037	S631*	probably null	Het
Sycp1	A	T	3: 102,820,626	Y890*	probably null	Het
Tcaf3	A	G	6: 42,591,964	V583A	possibly damaging	Het
Tctn1	A	G	5: 122,261,410	V117A	probably damaging	Het
Tmem74	A	T	15: 43,867,399	S83T	probably benign	Het
Tmem91	T	C	7: 25,670,565	D94G	probably damaging	Het
Tns4	A	G	11: 99,086,023	L24P	probably damaging	Het
Tnxb	A	G	17: 34,692,454	H1577R	probably benign	Het
Tpm2	A	T	4: 43,515,939	N279K	probably benign	Het
Trim34b	A	G	7: 104,330,524	T148A	probably benign	Het
Tro	TAAGCTGGTGCTAGTGCTGGGTGCACCACCAAAGCTAATGCTCGCTGTGCTAAAGCTGGTGCTAGTGCTGGGTGCACCACCAAAGCTAATGCT	TAAGCTGGTGCTAGTGCTGGGTGCACCACCAAAGCTAATGCT	X: 150,648,624		probably benign	Het
Ttf1	T	A	2: 29,065,459	S278R	probably benign	Het
Utp20	A	T	10: 88,775,330	V1375E	probably benign	Het
Vmn2r52	C	A	7: 10,162,950	V532L	probably benign	Het
Vps13a	G	A	19: 16,720,430	R774*	probably null	Het
Vsnl1	A	T	12: 11,326,454	D143E	probably benign	Het
Yme1l1	T	A	2: 23,194,757	N622K	probably benign	Het
Zfp106	A	G	2: 120,514,219	V1748A	probably damaging	Het
Zfp513	C	T	5: 31,200,562	V158M	possibly damaging	Het
Zfp607a	A	T	7: 27,879,094	I530F	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
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
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'- TCTGAGGGAGCCAATTCGAATC -3'
(R):5'- GTAGAACACTTGCTGCAGATGGG -3'

Sequencing Primer
(F):5'- GAGGGAGCCAATTCGAATCTTATTC -3'
(R):5'- CAGATGGGTGCTAATGTCCAC -3'

Posted On

2019-12-20