Mutagenetix > Incidental Mutation

Incidental Mutation 'R7790:Tnks'

599812

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

045846-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7790 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34826460-34965690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34861540 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 625 (N625K)

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: N625K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: N625K

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

100% (81/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,451,201	I136F	possibly damaging	Het
3110043O21Rik	T	C	4: 35,192,997	D444G	unknown	Het
4932415D10Rik	C	T	10: 82,287,495	C3227Y	probably benign	Het
Abca13	A	T	11: 9,297,915	K2554M	probably damaging	Het
Ankrd12	C	T	17: 65,984,230	D1403N	possibly damaging	Het
Ankrd17	A	G	5: 90,260,152	V1402A	possibly damaging	Het
Ankrd36	A	T	11: 5,635,176	N329I	possibly damaging	Het
Atr	A	T	9: 95,874,180	D815V	probably damaging	Het
Ceacam1	T	C	7: 25,473,950	Y271C	probably damaging	Het
Cenpo	T	C	12: 4,214,597	H265R	probably benign	Het
Chd8	G	A	14: 52,226,082	R702W	probably damaging	Het
Ckap5	A	G	2: 91,559,110	N309S	probably benign	Het
Cxxc1	C	T	18: 74,217,784	R83C	probably damaging	Het
Dcaf6	T	C	1: 165,399,715	D281G	probably damaging	Het
Dennd4c	A	G	4: 86,799,517	T584A	probably damaging	Het
Dync2h1	G	T	9: 7,114,914	H2415N	probably damaging	Het
Dzip1l	A	G	9: 99,660,962	E490G	possibly damaging	Het
Fam124a	T	C	14: 62,606,077	S345P	probably benign	Het
Fam83b	G	A	9: 76,492,048	T591I	probably benign	Het
Frem1	T	C	4: 82,989,164	S838G	probably benign	Het
Fsip2	G	T	2: 82,988,379	D4819Y	probably benign	Het
Gm43302	T	G	5: 105,277,825	K246T	probably benign	Het
Gm5861	C	A	5: 11,184,218	H30Q	probably benign	Het
Gml	T	C	15: 74,813,613		probably benign	Het
Gpc1	A	T	1: 92,853,449	H90L	probably benign	Het
Grik3	T	C	4: 125,686,019	L519P	probably damaging	Het
Grwd1	A	G	7: 45,826,014	V368A	probably damaging	Het
Gstm3	G	A	3: 107,969,239		probably benign	Het
Gtpbp6	A	G	5: 110,104,386	S427P	probably damaging	Het
Heatr5b	C	T	17: 78,818,823	G560E	probably damaging	Het
Heatr9	A	G	11: 83,518,193	V176A	probably damaging	Het
Hsf2bp	A	G	17: 32,034,479	V5A	probably benign	Het
Ints3	G	T	3: 90,400,413	Q660K	probably benign	Het
Itpr2	A	T	6: 146,224,776	L2048Q	probably damaging	Het
Kcnq1	G	A	7: 143,106,605		probably null	Het
Lsm12	A	T	11: 102,165,169		probably null	Het
Mcoln3	A	G	3: 146,139,492	Y481C	probably damaging	Het
Meis3	A	G	7: 16,182,397	N266D	probably benign	Het
Mgat5	G	A	1: 127,412,204	E441K	probably benign	Het
Mroh6	C	T	15: 75,884,240	R689H	probably benign	Het
Mtg1	T	C	7: 140,149,749	Y251H	probably damaging	Het
Mtus2	A	T	5: 148,078,188	Q597L	probably benign	Het
Myt1	A	G	2: 181,797,597	E346G	probably benign	Het
Nat8f4	A	G	6: 85,900,891	S217P	probably benign	Het
Ngf	G	A	3: 102,509,824	G17R	unknown	Het
Olfr863-ps1	A	T	9: 19,941,684	M252K	unknown	Het
Pam	T	C	1: 97,821,847	Y968C	probably damaging	Het
Pcdhga7	T	A	18: 37,714,943	M1K	probably null	Het
Pde8b	G	T	13: 95,034,171	D554E	probably benign	Het
Pdzd7	G	A	19: 45,045,523	R41*	probably null	Het
Pkhd1l1	C	T	15: 44,578,581	P3639S	probably damaging	Het
Plce1	A	T	19: 38,780,696	E2280V	probably damaging	Het
Prrxl1	T	A	14: 32,628,888	L227Q	probably damaging	Het
Ryr1	T	C	7: 29,104,832	I538V	probably benign	Het
Scaf11	A	G	15: 96,419,061	L874P	possibly damaging	Het
Scpep1	G	T	11: 88,933,521	D307E	possibly damaging	Het
Sept4	A	G	11: 87,589,239	E327G	probably damaging	Het
Skint2	T	G	4: 112,616,554	V11G	possibly damaging	Het
Slc26a4	T	C	12: 31,544,483	N289D	probably damaging	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,038		probably benign	Het
Slx4	T	C	16: 3,986,982	E656G	probably benign	Het
Socs5	T	C	17: 87,134,363	S244P	probably benign	Het
Stt3b	A	C	9: 115,276,819	L196R	probably damaging	Het
Syne2	T	A	12: 75,929,103		probably null	Het
Tab2	T	A	10: 7,920,424	N24I	probably damaging	Het
Taf4b	T	C	18: 14,813,274	S385P	probably damaging	Het
Tg	T	C	15: 66,849,604	Y2720H	probably damaging	Het
Tjap1	C	T	17: 46,258,690	G448E	probably benign	Het
Tll1	A	T	8: 64,025,237	C827*	probably null	Het
Tlr11	T	A	14: 50,361,925	I456K	probably benign	Het
Tmem209	T	C	6: 30,497,855	D305G	probably damaging	Het
Tmem82	A	T	4: 141,617,724		probably null	Het
Tnfrsf14	A	G	4: 154,923,293	V207A	probably benign	Het
Tomm20	G	A	8: 126,939,950	P58S	possibly damaging	Het
Ttc9b	A	G	7: 27,654,336	D137G	probably benign	Het
Ulk4	C	T	9: 121,263,668	E168K	possibly damaging	Het
Usp9y	T	A	Y: 1,444,573	D122V	probably damaging	Het
Vps41	C	A	13: 18,842,268	T512K	possibly damaging	Het
Wdr49	T	A	3: 75,275,028	N698I	probably benign	Het
Zfp568	G	A	7: 30,022,725	C365Y	probably damaging	Het
Zfp663	A	T	2: 165,352,533	C589S	probably damaging	Het
Zfp971	A	G	2: 178,033,499	K297R	probably damaging	Het
Zkscan16	G	T	4: 58,951,843	E173*	probably null	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
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
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'- GTGCAGATCTCCTCCTGATAG -3'
(R):5'- ATGCCCAGTTTCACATGGAC -3'

Sequencing Primer
(F):5'- CACAAATTGGAGTTGGGGTGACTATG -3'
(R):5'- TGGACATCCAATGAATTTTCAGATG -3'

Posted On

2019-11-26