Mutagenetix > Incidental Mutation

Incidental Mutation 'R9649:Tnks'

726957

Institutional Source

Beutler Lab

Gene Symbol

Tnks

Ensembl Gene

ENSMUSG00000031529

Gene Name

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

Synonyms

mTNKS1, TANK1, tankyrase 1, 4930554K12Rik, D130072O21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9649 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35296333-35432844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35306089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1162 (V1162A)

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: V1162A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: V1162A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010B08Rik	A	T	2: 173,561,706 (GRCm39)	H5L	unknown	Het
Aatk	A	G	11: 119,901,733 (GRCm39)	S888P	probably damaging	Het
Ahnak	A	T	19: 8,985,786 (GRCm39)	K2357*	probably null	Het
Arl9	T	A	5: 77,155,139 (GRCm39)	L90Q	probably damaging	Het
Atosa	A	G	9: 74,924,349 (GRCm39)	D864G	possibly damaging	Het
Atxn2	T	C	5: 121,949,055 (GRCm39)	V1144A	probably damaging	Het
Batf3	C	T	1: 190,830,623 (GRCm39)		probably benign	Het
Bltp3b	C	A	10: 89,626,593 (GRCm39)	T429K	probably benign	Het
Brpf3	G	A	17: 29,037,597 (GRCm39)	E822K	probably benign	Het
Cabin1	T	A	10: 75,575,239 (GRCm39)	Q602L	probably damaging	Het
Cadps	T	C	14: 12,597,418 (GRCm38)	E424G	probably damaging	Het
Camta1	A	G	4: 151,216,004 (GRCm39)	L972P	possibly damaging	Het
Ccdc159	A	G	9: 21,840,672 (GRCm39)	N80D	possibly damaging	Het
Cdh1	A	C	8: 107,388,604 (GRCm39)	E553D	possibly damaging	Het
Cdk14	T	A	5: 5,423,477 (GRCm39)	E35V	probably benign	Het
Cfap70	A	G	14: 20,450,546 (GRCm39)	L995P	probably damaging	Het
Col18a1	T	A	10: 76,916,673 (GRCm39)	E334V	unknown	Het
Colec12	T	A	18: 9,877,000 (GRCm39)	I741K	unknown	Het
Crot	A	G	5: 9,024,170 (GRCm39)	V342A	probably benign	Het
Ctnnal1	A	G	4: 56,865,036 (GRCm39)	S27P	possibly damaging	Het
Cyp2j9	A	G	4: 96,460,193 (GRCm39)	S437P	probably damaging	Het
Dennd4c	A	T	4: 86,743,160 (GRCm39)	T1001S	probably benign	Het
Dffa	G	A	4: 149,202,276 (GRCm39)	V227I	probably benign	Het
Dnaaf5	T	A	5: 139,159,909 (GRCm39)	H602Q	probably benign	Het
Efcab7	G	T	4: 99,761,902 (GRCm39)	K397N	probably damaging	Het
Egfl6	C	T	X: 165,319,235 (GRCm39)	V379I	probably benign	Het
Fadd	G	A	7: 144,134,384 (GRCm39)	T167I	probably benign	Het
Fam184b	T	C	5: 45,796,484 (GRCm39)	D33G	probably damaging	Het
Fam237b	C	T	5: 5,625,549 (GRCm39)	Q82*	probably null	Het
Fam83h	G	A	15: 75,877,976 (GRCm39)	R141W	probably damaging	Het
Fanci	G	A	7: 79,076,954 (GRCm39)	R564Q	probably damaging	Het
Fat3	A	T	9: 15,908,054 (GRCm39)	D2649E	possibly damaging	Het
Fcrl1	A	G	3: 87,291,918 (GRCm39)	T46A	possibly damaging	Het
Fig4	C	T	10: 41,143,763 (GRCm39)	G232D	probably benign	Het
Frem3	A	T	8: 81,341,145 (GRCm39)	H1146L	probably damaging	Het
Fyttd1	T	A	16: 32,715,472 (GRCm39)	F133L	probably benign	Het
Gata2	A	G	6: 88,179,505 (GRCm39)	N326D	probably damaging	Het
Gm7298	A	T	6: 121,764,491 (GRCm39)	T1457S	probably damaging	Het
Hdac1-ps	A	T	17: 78,799,075 (GRCm39)	Y22F	probably benign	Het
Heatr5b	C	T	17: 79,141,524 (GRCm39)		probably null	Het
Hfm1	T	A	5: 107,066,329 (GRCm39)	D33V	possibly damaging	Het
Hmcn2	G	A	2: 31,292,450 (GRCm39)	A2447T	possibly damaging	Het
Hs3st3b1	A	G	11: 63,812,331 (GRCm39)	F128S	probably benign	Het
Hs3st6	G	T	17: 24,972,226 (GRCm39)	R56L	possibly damaging	Het
Hsd17b3	C	T	13: 64,212,171 (GRCm39)	M168I	probably damaging	Het
Ighv1-34	G	T	12: 114,814,885 (GRCm39)	D92E	possibly damaging	Het
Itgb4	A	T	11: 115,885,171 (GRCm39)	I1018F	possibly damaging	Het
Itih3	T	C	14: 30,637,605 (GRCm39)	D518G	possibly damaging	Het
Kcnma1	C	T	14: 23,501,666 (GRCm39)		probably null	Het
Klhl11	A	T	11: 100,363,506 (GRCm39)	S17T	probably benign	Het
Lilra6	T	C	7: 3,917,521 (GRCm39)	E158G	possibly damaging	Het
Loxl1	A	G	9: 58,220,037 (GRCm39)	W45R	probably damaging	Het
Lratd1	T	C	12: 14,200,190 (GRCm39)	N179S	probably benign	Het
Lrfn1	G	T	7: 28,166,255 (GRCm39)	V550F	probably damaging	Het
Lrp1	T	C	10: 127,409,368 (GRCm39)	K1584E	probably benign	Het
Lrp4	C	G	2: 91,338,914 (GRCm39)	P1782A	possibly damaging	Het
Map3k1	A	G	13: 111,885,478 (GRCm39)	S1480P	probably damaging	Het
Mark4	G	T	7: 19,160,015 (GRCm39)	N748K	probably benign	Het
Mrpl38	G	A	11: 116,025,900 (GRCm39)	T142M	probably damaging	Het
Mrpl41	T	C	2: 24,864,481 (GRCm39)	T64A	probably benign	Het
Mrps2	G	A	2: 28,359,764 (GRCm39)	R207K	possibly damaging	Het
Myo5a	A	T	9: 75,099,726 (GRCm39)	E96D		Het
Nbas	A	T	12: 13,633,417 (GRCm39)	E2274V	probably damaging	Het
Or4x13	T	C	2: 90,231,338 (GRCm39)	F111S	probably damaging	Het
Or51a8	T	C	7: 102,549,652 (GRCm39)	I26T	probably benign	Het
Or51ac3	T	C	7: 103,213,850 (GRCm39)	D212G	probably damaging	Het
Or5m10b	T	C	2: 85,699,278 (GRCm39)	L114P	possibly damaging	Het
Or5m10b	T	A	2: 85,699,819 (GRCm39)	N294K	probably damaging	Het
Or6c35	T	A	10: 129,169,368 (GRCm39)	I206N	possibly damaging	Het
Pcdhga12	T	A	18: 37,900,288 (GRCm39)	D373E	probably damaging	Het
Pgd	A	C	4: 149,235,596 (GRCm39)	F395V	probably damaging	Het
Pi16	A	G	17: 29,538,363 (GRCm39)	M59V	possibly damaging	Het
Pik3r5	A	T	11: 68,381,720 (GRCm39)	T255S	probably benign	Het
Plch2	A	T	4: 155,068,516 (GRCm39)	V1370E	probably benign	Het
Plec	A	G	15: 76,067,153 (GRCm39)	I1309T	unknown	Het
Ppp2r3d	A	T	9: 124,440,831 (GRCm38)	S22R		Het
Pramel26	A	G	4: 143,542,609 (GRCm39)	C4R	probably damaging	Het
Ptk2b	C	A	14: 66,413,154 (GRCm39)	E342*	probably null	Het
Ptpn23	T	C	9: 110,215,226 (GRCm39)		probably null	Het
Rfx8	A	C	1: 39,722,850 (GRCm39)	S256A	probably damaging	Het
Rnf115	C	T	3: 96,665,337 (GRCm39)	T69I	probably damaging	Het
Rnf213	A	G	11: 119,370,457 (GRCm39)	Y4753C		Het
S100a10	A	C	3: 93,471,590 (GRCm39)	D58A	possibly damaging	Het
Serpina12	T	C	12: 104,004,317 (GRCm39)	K105R	probably benign	Het
Slc20a2	G	A	8: 23,028,900 (GRCm39)	G124S	probably damaging	Het
Stab2	ACC	AC	10: 86,692,561 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,526,635 (GRCm39)	T964N	probably benign	Het
Stxbp5	T	A	10: 9,774,938 (GRCm39)	I72F	probably damaging	Het
Sumf2	T	A	5: 129,891,482 (GRCm39)	M282K	possibly damaging	Het
Tle7	T	C	8: 110,837,580 (GRCm39)	F375L	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tmem185b	G	T	1: 119,454,613 (GRCm39)	V125L	probably benign	Het
Tmtc1	A	G	6: 148,144,714 (GRCm39)	M887T	probably damaging	Het
Tnfaip8	C	T	18: 50,223,512 (GRCm39)	Q83*	probably null	Het
Tomm70a	T	A	16: 56,961,072 (GRCm39)	Y342N	possibly damaging	Het
Tpo	T	A	12: 30,125,875 (GRCm39)	D828V	probably damaging	Het
Ugt8a	A	T	3: 125,708,338 (GRCm39)	N257K	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vim	T	A	2: 13,579,703 (GRCm39)	M154K	probably damaging	Het
Virma	G	T	4: 11,486,045 (GRCm39)	M1I	probably null	Het
Zfp715	A	T	7: 42,950,653 (GRCm39)	M100K	probably benign	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zmynd8	A	T	2: 165,680,772 (GRCm39)	D236E	probably damaging	Het

Other mutations in Tnks

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Tnks	APN	8	35,328,843 (GRCm39)	splice site	probably benign
IGL00901:Tnks	APN	8	35,305,549 (GRCm39)	nonsense	probably null
IGL01448:Tnks	APN	8	35,307,136 (GRCm39)	missense	probably damaging	1.00
IGL01455:Tnks	APN	8	35,408,054 (GRCm39)	missense	probably damaging	0.99
IGL01962:Tnks	APN	8	35,336,678 (GRCm39)	missense	probably damaging	1.00
IGL02088:Tnks	APN	8	35,307,148 (GRCm39)	missense	possibly damaging	0.50
IGL02260:Tnks	APN	8	35,310,137 (GRCm39)	missense	probably damaging	0.99
IGL02454:Tnks	APN	8	35,298,882 (GRCm39)	unclassified	probably benign
IGL02486:Tnks	APN	8	35,318,352 (GRCm39)	missense	probably damaging	1.00
IGL02612:Tnks	APN	8	35,316,453 (GRCm39)	missense	possibly damaging	0.48
IGL03179:Tnks	APN	8	35,315,824 (GRCm39)	missense	probably benign	0.38
IGL03404:Tnks	APN	8	35,407,858 (GRCm39)	missense	probably damaging	1.00
R0256:Tnks	UTSW	8	35,328,701 (GRCm39)	missense	probably benign	0.07
R0265:Tnks	UTSW	8	35,307,124 (GRCm39)	nonsense	probably null
R0334:Tnks	UTSW	8	35,320,413 (GRCm39)	nonsense	probably null
R0414:Tnks	UTSW	8	35,320,463 (GRCm39)	missense	probably damaging	1.00
R0526:Tnks	UTSW	8	35,320,457 (GRCm39)	missense	probably benign	0.23
R0622:Tnks	UTSW	8	35,407,976 (GRCm39)	missense	probably damaging	1.00
R1445:Tnks	UTSW	8	35,301,757 (GRCm39)	splice site	probably benign
R1618:Tnks	UTSW	8	35,342,430 (GRCm39)	missense	probably damaging	1.00
R1779:Tnks	UTSW	8	35,324,672 (GRCm39)	missense	probably benign	0.18
R1919:Tnks	UTSW	8	35,342,386 (GRCm39)	missense	probably damaging	1.00
R1938:Tnks	UTSW	8	35,305,684 (GRCm39)	missense	probably damaging	1.00
R2018:Tnks	UTSW	8	35,318,260 (GRCm39)	missense	probably damaging	1.00
R2198:Tnks	UTSW	8	35,340,221 (GRCm39)	missense	probably benign	0.29
R2198:Tnks	UTSW	8	35,315,803 (GRCm39)	missense	probably benign
R2925:Tnks	UTSW	8	35,432,815 (GRCm39)	missense	unknown
R3828:Tnks	UTSW	8	35,340,332 (GRCm39)	missense	probably damaging	1.00
R3913:Tnks	UTSW	8	35,340,228 (GRCm39)	missense	probably damaging	0.99
R3916:Tnks	UTSW	8	35,320,515 (GRCm39)	missense	probably damaging	1.00
R3917:Tnks	UTSW	8	35,320,515 (GRCm39)	missense	probably damaging	1.00
R3930:Tnks	UTSW	8	35,407,966 (GRCm39)	missense	probably damaging	1.00
R4659:Tnks	UTSW	8	35,316,465 (GRCm39)	missense	possibly damaging	0.53
R4760:Tnks	UTSW	8	35,318,937 (GRCm39)	missense	probably benign	0.38
R5091:Tnks	UTSW	8	35,308,963 (GRCm39)	missense	probably benign	0.40
R5419:Tnks	UTSW	8	35,432,720 (GRCm39)	missense	unknown
R5558:Tnks	UTSW	8	35,432,819 (GRCm39)	start codon destroyed	probably null
R5582:Tnks	UTSW	8	35,408,015 (GRCm39)	missense	probably benign	0.14
R6035:Tnks	UTSW	8	35,385,615 (GRCm39)	missense	possibly damaging	0.93
R6035:Tnks	UTSW	8	35,385,615 (GRCm39)	missense	possibly damaging	0.93
R6495:Tnks	UTSW	8	35,307,120 (GRCm39)	critical splice donor site	probably null
R6527:Tnks	UTSW	8	35,340,247 (GRCm39)	missense	probably benign	0.36
R6991:Tnks	UTSW	8	35,301,647 (GRCm39)	missense	probably damaging	1.00
R7015:Tnks	UTSW	8	35,305,701 (GRCm39)	missense	probably benign	0.04
R7038:Tnks	UTSW	8	35,318,790 (GRCm39)	missense	probably damaging	0.99
R7057:Tnks	UTSW	8	35,307,168 (GRCm39)	missense	probably damaging	1.00
R7167:Tnks	UTSW	8	35,316,458 (GRCm39)	missense	probably damaging	0.98
R7250:Tnks	UTSW	8	35,318,912 (GRCm39)	missense	probably damaging	0.98
R7475:Tnks	UTSW	8	35,298,866 (GRCm39)	missense	probably damaging	1.00
R7790:Tnks	UTSW	8	35,328,694 (GRCm39)	missense	probably benign	0.01
R7818:Tnks	UTSW	8	35,340,182 (GRCm39)	missense	probably benign	0.03
R7909:Tnks	UTSW	8	35,407,858 (GRCm39)	missense	probably damaging	1.00
R7970:Tnks	UTSW	8	35,323,080 (GRCm39)	critical splice donor site	probably null
R8341:Tnks	UTSW	8	35,340,199 (GRCm39)	missense	probably damaging	1.00
R8343:Tnks	UTSW	8	35,301,738 (GRCm39)	missense	probably benign	0.03
R8870:Tnks	UTSW	8	35,314,433 (GRCm39)	critical splice donor site	probably null
R8936:Tnks	UTSW	8	35,320,501 (GRCm39)	nonsense	probably null
R9049:Tnks	UTSW	8	35,308,932 (GRCm39)	missense	probably damaging	0.96
R9080:Tnks	UTSW	8	35,432,466 (GRCm39)	small deletion	probably benign
R9182:Tnks	UTSW	8	35,308,905 (GRCm39)	critical splice donor site	probably null
R9211:Tnks	UTSW	8	35,316,489 (GRCm39)	missense	probably damaging	1.00
R9425:Tnks	UTSW	8	35,340,819 (GRCm39)	missense	probably damaging	1.00
Z1177:Tnks	UTSW	8	35,432,299 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGGCACAGGTTTTGGGAAGC -3'
(R):5'- AACTGAATTCCACTGATAGGGTG -3'

Sequencing Primer
(F):5'- AGGTTTTGGGAAGCCTGTGC -3'
(R):5'- GAATTCCACTGATAGGGTGACTTAG -3'

Posted On

2022-10-06