Mutagenetix > Incidental Mutation

Incidental Mutation 'R7250:Tnks'

563840

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

045350-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7250 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34826460-34965690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34851758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 790 (I790F)

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: I790F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: I790F

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 78,370,705 (GRCm38)	M345I	probably benign	Het
Actl7b	T	A	4: 56,741,035 (GRCm38)	M108L	probably benign	Het
Adgrf3	T	A	5: 30,195,682 (GRCm38)	I934L	probably damaging	Het
Adprm	A	G	11: 67,041,624 (GRCm38)	V153A	probably benign	Het
Aif1l	G	A	2: 31,969,752 (GRCm38)	V109M	probably damaging	Het
Asphd1	T	A	7: 126,946,770 (GRCm38)	E307V	probably damaging	Het
Ate1	T	A	7: 130,519,971 (GRCm38)		probably benign	Het
BC048403	T	C	10: 121,745,471 (GRCm38)	S126P	possibly damaging	Het
BC067074	T	G	13: 113,318,815 (GRCm38)	I465R		Het
Borcs7	A	G	19: 46,699,608 (GRCm38)	H64R	probably damaging	Het
C1qtnf1	A	G	11: 118,448,350 (GRCm38)	*282W	probably null	Het
Cacna1c	A	T	6: 118,696,451 (GRCm38)	V647E		Het
Cacna1c	A	G	6: 118,598,005 (GRCm38)	C1985R		Het
Cacna1d	A	G	14: 30,075,151 (GRCm38)	S1497P	probably damaging	Het
Cacna1e	T	A	1: 154,700,489 (GRCm38)	I133F	possibly damaging	Het
Ccdc63	A	T	5: 122,122,843 (GRCm38)	L206H	probably damaging	Het
Ccdc84	A	G	9: 44,412,451 (GRCm38)		probably null	Het
D430041D05Rik	T	C	2: 104,256,616 (GRCm38)	T672A	possibly damaging	Het
D630045J12Rik	G	T	6: 38,142,611 (GRCm38)	T1732K	possibly damaging	Het
D930020B18Rik	T	C	10: 121,671,831 (GRCm38)	I158T	probably damaging	Het
Ddx52	G	A	11: 83,944,566 (GRCm38)	G106D	probably benign	Het
Dock2	A	G	11: 34,695,205 (GRCm38)	V550A	probably benign	Het
Dock2	C	T	11: 34,695,293 (GRCm38)	D521N	probably damaging	Het
F13b	T	C	1: 139,516,489 (GRCm38)		probably null	Het
Fchsd2	A	G	7: 101,259,685 (GRCm38)	K431R	possibly damaging	Het
Fez1	C	T	9: 36,867,794 (GRCm38)	R256C	probably damaging	Het
Gjd4	T	A	18: 9,280,391 (GRCm38)	Q229L	probably benign	Het
Gpr45	T	A	1: 43,032,371 (GRCm38)	I58N	probably damaging	Het
Gstm1	T	A	3: 108,016,393 (GRCm38)	I99F	probably damaging	Het
Gtpbp8	T	A	16: 44,743,862 (GRCm38)	T149S	probably damaging	Het
H2-Ab1	A	G	17: 34,267,507 (GRCm38)	D180G	probably damaging	Het
Hdhd5	A	G	6: 120,517,055 (GRCm38)	I188T	possibly damaging	Het
Hfm1	T	C	5: 106,904,331 (GRCm38)	I300V	probably benign	Het
Hnrnpr	T	G	4: 136,332,435 (GRCm38)	D283E	probably benign	Het
Hsp90b1	T	C	10: 86,691,708 (GRCm38)	E768G	unknown	Het
Kcna4	C	A	2: 107,296,318 (GRCm38)	Q466K	possibly damaging	Het
Kcnk6	A	G	7: 29,232,194 (GRCm38)	L97P	probably benign	Het
Kdelc2	C	T	9: 53,390,521 (GRCm38)	Q158*	probably null	Het
Klf5	A	G	14: 99,299,019 (GRCm38)	S9G	probably benign	Het
Kmt2c	T	C	5: 25,309,807 (GRCm38)	T3013A	probably benign	Het
Kmt2c	C	A	5: 25,299,491 (GRCm38)	K3606N	probably damaging	Het
Lancl1	A	G	1: 67,009,299 (GRCm38)	Y207H	possibly damaging	Het
Lipe	G	C	7: 25,388,660 (GRCm38)		probably benign	Het
Lrrc66	T	A	5: 73,610,881 (GRCm38)	H239L	probably benign	Het
Ltbp2	C	T	12: 84,787,392 (GRCm38)	W1441*	probably null	Het
Man2a1	T	C	17: 64,636,588 (GRCm38)	S213P	probably benign	Het
Mapre2	C	T	18: 23,858,062 (GRCm38)	A171V	possibly damaging	Het
Mdn1	T	A	4: 32,695,427 (GRCm38)	D1155E	probably damaging	Het
Mki67	T	C	7: 135,699,324 (GRCm38)	D1327G	possibly damaging	Het
Mx2	T	C	16: 97,547,464 (GRCm38)	I279T	probably damaging	Het
Myo5c	A	G	9: 75,262,215 (GRCm38)	T441A	probably damaging	Het
Nlrp9a	T	G	7: 26,558,718 (GRCm38)	V587G	possibly damaging	Het
Npas2	A	T	1: 39,338,107 (GRCm38)	T517S	probably damaging	Het
Npy1r	T	C	8: 66,705,060 (GRCm38)	S341P	probably benign	Het
Ntm	A	G	9: 29,411,692 (GRCm38)	W11R	probably benign	Het
Nxpe2	A	T	9: 48,326,796 (GRCm38)	I53N	possibly damaging	Het
Olfr456	A	G	6: 42,486,755 (GRCm38)	V146A	probably benign	Het
Olfr655	A	T	7: 104,596,531 (GRCm38)	Y217N	probably damaging	Het
Olfr981	T	A	9: 40,022,754 (GRCm38)	Y120*	probably null	Het
Onecut2	T	C	18: 64,386,440 (GRCm38)	F443L	probably benign	Het
Parp2	T	A	14: 50,817,344 (GRCm38)	V248E	probably benign	Het
Pcdh12	C	A	18: 38,281,976 (GRCm38)	V699L	probably benign	Het
Pja2	G	A	17: 64,309,456 (GRCm38)	P148L	probably benign	Het
Ppip5k2	T	G	1: 97,745,462 (GRCm38)	D415A	probably benign	Het
Prss47	A	G	13: 65,052,541 (GRCm38)	S74P	probably benign	Het
Ptprg	G	T	14: 12,166,767 (GRCm38)	M723I	probably benign	Het
Qsox2	A	T	2: 26,228,432 (GRCm38)	I109N	probably damaging	Het
Ranbp3l	A	G	15: 9,011,980 (GRCm38)	E217G	probably benign	Het
Rgl2	C	T	17: 33,933,429 (GRCm38)	R367W	probably damaging	Het
Rgs12	T	A	5: 34,965,497 (GRCm38)	F208Y	probably damaging	Het
Rin3	C	T	12: 102,368,634 (GRCm38)	T268I	unknown	Het
Rttn	T	A	18: 88,989,523 (GRCm38)	D427E	probably benign	Het
Samd13	G	A	3: 146,646,324 (GRCm38)	P91S	probably benign	Het
Samd9l	T	C	6: 3,374,201 (GRCm38)	D1020G	possibly damaging	Het
Sec62	T	G	3: 30,812,347 (GRCm38)	L201V	possibly damaging	Het
Setdb1	C	T	3: 95,354,541 (GRCm38)		probably null	Het
Sf3a3	A	T	4: 124,722,915 (GRCm38)	T197S	probably benign	Het
Slc20a1	A	T	2: 129,209,924 (GRCm38)	I618F	possibly damaging	Het
Slc38a3	A	T	9: 107,656,666 (GRCm38)	M186K	probably benign	Het
Slc39a13	T	C	2: 91,063,158 (GRCm38)	T319A	probably benign	Het
Slc44a4	T	C	17: 34,918,544 (GRCm38)		probably null	Het
St3gal1	A	C	15: 67,106,729 (GRCm38)	D314E	possibly damaging	Het
Suclg1	A	G	6: 73,271,091 (GRCm38)	N265S	probably benign	Het
Sult2b1	A	T	7: 45,783,937 (GRCm38)	V2D	unknown	Het
Supv3l1	T	A	10: 62,445,067 (GRCm38)	I182F	probably damaging	Het
Tcp11l2	T	C	10: 84,587,241 (GRCm38)		probably null	Het
Tenm2	C	A	11: 36,072,798 (GRCm38)	L935F	probably damaging	Het
Top2b	C	T	14: 16,420,411 (GRCm38)	T1274I	probably benign	Het
Tpi1	A	T	6: 124,812,478 (GRCm38)	I178N	probably damaging	Het
Trav9d-1	A	T	14: 52,792,696 (GRCm38)	S86C	probably damaging	Het
Treml2	A	G	17: 48,309,127 (GRCm38)	E265G	probably benign	Het
Trpm7	A	T	2: 126,826,765 (GRCm38)	S744T	possibly damaging	Het
Usp33	T	A	3: 152,392,362 (GRCm38)	L909*	probably null	Het
Vcan	A	G	13: 89,721,686 (GRCm38)	I210T	probably damaging	Het
Vcan	A	T	13: 89,731,457 (GRCm38)		probably null	Het
Vsig10l	A	T	7: 43,463,675 (GRCm38)	D17V	probably benign	Het
Zbtb7b	T	A	3: 89,379,669 (GRCm38)	T498S	probably benign	Het
Zfp366	T	A	13: 99,229,568 (GRCm38)	H412Q	probably damaging	Het
Zfp53	C	A	17: 21,509,578 (GRCm38)	D624E	probably damaging	Het
Zfp827	A	T	8: 79,190,092 (GRCm38)	D432V		Het
Zic1	T	C	9: 91,364,975 (GRCm38)	T15A	probably damaging	Het
Zswim8	T	C	14: 20,719,968 (GRCm38)	C1368R	probably damaging	Het

Other mutations in Tnks

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Tnks	APN	8	34,861,689 (GRCm38)	splice site	probably benign
IGL00901:Tnks	APN	8	34,838,395 (GRCm38)	nonsense	probably null
IGL01448:Tnks	APN	8	34,839,982 (GRCm38)	missense	probably damaging	1.00
IGL01455:Tnks	APN	8	34,940,900 (GRCm38)	missense	probably damaging	0.99
IGL01962:Tnks	APN	8	34,869,524 (GRCm38)	missense	probably damaging	1.00
IGL02088:Tnks	APN	8	34,839,994 (GRCm38)	missense	possibly damaging	0.50
IGL02260:Tnks	APN	8	34,842,983 (GRCm38)	missense	probably damaging	0.99
IGL02454:Tnks	APN	8	34,831,728 (GRCm38)	unclassified	probably benign
IGL02486:Tnks	APN	8	34,851,198 (GRCm38)	missense	probably damaging	1.00
IGL02612:Tnks	APN	8	34,849,299 (GRCm38)	missense	possibly damaging	0.48
IGL03179:Tnks	APN	8	34,848,670 (GRCm38)	missense	probably benign	0.38
IGL03404:Tnks	APN	8	34,940,704 (GRCm38)	missense	probably damaging	1.00
R0256:Tnks	UTSW	8	34,861,547 (GRCm38)	missense	probably benign	0.07
R0265:Tnks	UTSW	8	34,839,970 (GRCm38)	nonsense	probably null
R0334:Tnks	UTSW	8	34,853,259 (GRCm38)	nonsense	probably null
R0414:Tnks	UTSW	8	34,853,309 (GRCm38)	missense	probably damaging	1.00
R0526:Tnks	UTSW	8	34,853,303 (GRCm38)	missense	probably benign	0.23
R0622:Tnks	UTSW	8	34,940,822 (GRCm38)	missense	probably damaging	1.00
R1445:Tnks	UTSW	8	34,834,603 (GRCm38)	splice site	probably benign
R1618:Tnks	UTSW	8	34,875,276 (GRCm38)	missense	probably damaging	1.00
R1779:Tnks	UTSW	8	34,857,518 (GRCm38)	missense	probably benign	0.18
R1919:Tnks	UTSW	8	34,875,232 (GRCm38)	missense	probably damaging	1.00
R1938:Tnks	UTSW	8	34,838,530 (GRCm38)	missense	probably damaging	1.00
R2018:Tnks	UTSW	8	34,851,106 (GRCm38)	missense	probably damaging	1.00
R2198:Tnks	UTSW	8	34,873,067 (GRCm38)	missense	probably benign	0.29
R2198:Tnks	UTSW	8	34,848,649 (GRCm38)	missense	probably benign
R2925:Tnks	UTSW	8	34,965,661 (GRCm38)	missense	unknown
R3828:Tnks	UTSW	8	34,873,178 (GRCm38)	missense	probably damaging	1.00
R3913:Tnks	UTSW	8	34,873,074 (GRCm38)	missense	probably damaging	0.99
R3916:Tnks	UTSW	8	34,853,361 (GRCm38)	missense	probably damaging	1.00
R3917:Tnks	UTSW	8	34,853,361 (GRCm38)	missense	probably damaging	1.00
R3930:Tnks	UTSW	8	34,940,812 (GRCm38)	missense	probably damaging	1.00
R4659:Tnks	UTSW	8	34,849,311 (GRCm38)	missense	possibly damaging	0.53
R4760:Tnks	UTSW	8	34,851,783 (GRCm38)	missense	probably benign	0.38
R5091:Tnks	UTSW	8	34,841,809 (GRCm38)	missense	probably benign	0.40
R5419:Tnks	UTSW	8	34,965,566 (GRCm38)	missense	unknown
R5558:Tnks	UTSW	8	34,965,665 (GRCm38)	start codon destroyed	probably null
R5582:Tnks	UTSW	8	34,940,861 (GRCm38)	missense	probably benign	0.14
R6035:Tnks	UTSW	8	34,918,461 (GRCm38)	missense	possibly damaging	0.93
R6035:Tnks	UTSW	8	34,918,461 (GRCm38)	missense	possibly damaging	0.93
R6495:Tnks	UTSW	8	34,839,966 (GRCm38)	critical splice donor site	probably null
R6527:Tnks	UTSW	8	34,873,093 (GRCm38)	missense	probably benign	0.36
R6991:Tnks	UTSW	8	34,834,493 (GRCm38)	missense	probably damaging	1.00
R7015:Tnks	UTSW	8	34,838,547 (GRCm38)	missense	probably benign	0.04
R7038:Tnks	UTSW	8	34,851,636 (GRCm38)	missense	probably damaging	0.99
R7057:Tnks	UTSW	8	34,840,014 (GRCm38)	missense	probably damaging	1.00
R7167:Tnks	UTSW	8	34,849,304 (GRCm38)	missense	probably damaging	0.98
R7475:Tnks	UTSW	8	34,831,712 (GRCm38)	missense	probably damaging	1.00
R7790:Tnks	UTSW	8	34,861,540 (GRCm38)	missense	probably benign	0.01
R7818:Tnks	UTSW	8	34,873,028 (GRCm38)	missense	probably benign	0.03
R7909:Tnks	UTSW	8	34,940,704 (GRCm38)	missense	probably damaging	1.00
R7970:Tnks	UTSW	8	34,855,926 (GRCm38)	critical splice donor site	probably null
R8341:Tnks	UTSW	8	34,873,045 (GRCm38)	missense	probably damaging	1.00
R8343:Tnks	UTSW	8	34,834,584 (GRCm38)	missense	probably benign	0.03
R8870:Tnks	UTSW	8	34,847,279 (GRCm38)	critical splice donor site	probably null
R8936:Tnks	UTSW	8	34,853,347 (GRCm38)	nonsense	probably null
R9049:Tnks	UTSW	8	34,841,778 (GRCm38)	missense	probably damaging	0.96
R9080:Tnks	UTSW	8	34,965,312 (GRCm38)	small deletion	probably benign
R9182:Tnks	UTSW	8	34,841,751 (GRCm38)	critical splice donor site	probably null
R9211:Tnks	UTSW	8	34,849,335 (GRCm38)	missense	probably damaging	1.00
R9425:Tnks	UTSW	8	34,873,665 (GRCm38)	missense	probably damaging	1.00
R9649:Tnks	UTSW	8	34,838,935 (GRCm38)	missense	probably damaging	0.96
Z1177:Tnks	UTSW	8	34,965,145 (GRCm38)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGCCTGGCACACAGTATATTG -3'
(R):5'- ATATAGGATAGGTTTCCTTCCAGC -3'

Sequencing Primer
(F):5'- GCCTGGCACACAGTATATTGTTATC -3'
(R):5'- TCCTTCCAGCTGAATGTAGTACCAAG -3'

Posted On

2019-06-26