Mutagenetix > Incidental Mutation

Incidental Mutation 'R4760:Tnks'

356809

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

041974-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35296333-35432844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35318937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 781 (D781E)

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: D781E

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: D781E

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

noncoding transcript
Transcript: ENSMUST00000209904

Meta Mutation Damage Score

0.1281

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530053G22Rik	A	G	6: 60,379,086 (GRCm39)		noncoding transcript	Het
Abcc2	A	T	19: 43,798,920 (GRCm39)	Y512F	probably benign	Het
Adgrb1	T	A	15: 74,443,312 (GRCm39)	I51N	probably damaging	Het
Adhfe1	A	G	1: 9,633,748 (GRCm39)	Y332C	probably damaging	Het
Ambn	C	T	5: 88,615,566 (GRCm39)	L317F	probably damaging	Het
Amn1	T	C	6: 149,086,611 (GRCm39)	Y17C	probably benign	Het
Apoa5	T	C	9: 46,181,593 (GRCm39)	V223A	probably damaging	Het
Best3	A	T	10: 116,860,699 (GRCm39)	H653L	probably benign	Het
Btnl2	C	A	17: 34,582,169 (GRCm39)	S245Y	probably damaging	Het
Camk1d	A	G	2: 5,366,867 (GRCm39)	L116P	probably damaging	Het
Catsperg2	T	A	7: 29,405,060 (GRCm39)	D698V	probably damaging	Het
Cd33	T	C	7: 43,178,919 (GRCm39)	T307A	probably benign	Het
Cdk8	C	T	5: 146,229,476 (GRCm39)	S230L	probably benign	Het
Cfap69	C	T	5: 5,696,939 (GRCm39)	C119Y	probably damaging	Het
Chat	T	C	14: 32,175,694 (GRCm39)	N122S	probably benign	Het
Col20a1	A	T	2: 180,626,196 (GRCm39)		probably benign	Het
Cyp2j9	A	T	4: 96,457,028 (GRCm39)	L481Q	probably damaging	Het
Dab1	A	C	4: 104,589,342 (GRCm39)	S550R	probably damaging	Het
Dlgap2	A	C	8: 14,823,380 (GRCm39)	Q533P	probably damaging	Het
Eif4g3	A	T	4: 137,811,629 (GRCm39)	Q31L	possibly damaging	Het
Ets2	G	A	16: 95,520,087 (GRCm39)	V438M	probably damaging	Het
Eva1c	G	A	16: 90,701,138 (GRCm39)	D258N	probably benign	Het
Fastkd2	A	G	1: 63,785,045 (GRCm39)	H477R	probably benign	Het
Fga	T	G	3: 82,938,821 (GRCm39)	S399A	probably benign	Het
Fmo4	T	A	1: 162,637,396 (GRCm39)	E32V	probably damaging	Het
Gm7204	T	A	16: 48,039,051 (GRCm39)		noncoding transcript	Het
Gpi-ps	G	A	8: 5,690,473 (GRCm39)		noncoding transcript	Het
Hhipl1	A	G	12: 108,286,336 (GRCm39)	I548V	probably damaging	Het
Hsfy2	T	C	1: 56,676,349 (GRCm39)	T63A	probably benign	Het
Igf2r	A	G	17: 12,922,352 (GRCm39)	V1254A	possibly damaging	Het
Ighv8-4	A	T	12: 114,987,667 (GRCm39)	D110E	probably damaging	Het
Igkv14-130	T	C	6: 67,768,446 (GRCm39)	S101P	probably benign	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Ipo5	T	C	14: 121,179,054 (GRCm39)	V779A	probably benign	Het
Itpr1	C	T	6: 108,326,593 (GRCm39)	T105I	probably benign	Het
Kalrn	T	C	16: 34,018,857 (GRCm39)	M670V	probably damaging	Het
Kdm8	T	A	7: 125,054,431 (GRCm39)		probably null	Het
Kics2	T	C	10: 121,575,912 (GRCm39)	V11A	probably damaging	Het
L3hypdh	T	C	12: 72,124,016 (GRCm39)	I281V	probably benign	Het
Lins1	T	G	7: 66,364,435 (GRCm39)		probably benign	Het
Map4k5	T	A	12: 69,871,372 (GRCm39)	I517L	possibly damaging	Het
Marchf2	G	T	17: 33,928,890 (GRCm39)	T2K	probably damaging	Het
Mlkl	C	G	8: 112,046,348 (GRCm39)		probably null	Het
Mllt1	A	G	17: 57,209,630 (GRCm39)	M160T	probably benign	Het
Mmp15	G	A	8: 96,094,824 (GRCm39)	A233T	possibly damaging	Het
Moxd2	C	A	6: 40,868,537 (GRCm39)	T23N	probably benign	Het
Nop53	C	A	7: 15,676,812 (GRCm39)	K100N	probably benign	Het
Nrg1	C	A	8: 32,408,228 (GRCm39)	E2*	probably null	Het
Or52u1	T	A	7: 104,237,696 (GRCm39)	H228Q	probably benign	Het
Pank4	A	G	4: 155,059,091 (GRCm39)	D408G	possibly damaging	Het
Pcdhb10	T	C	18: 37,544,995 (GRCm39)	W24R	probably benign	Het
Pcm1	C	T	8: 41,740,775 (GRCm39)	T968I	probably damaging	Het
Pkib	G	T	10: 57,584,246 (GRCm39)	M19I	probably benign	Het
Ppy	A	G	11: 101,991,345 (GRCm39)		probably null	Het
Pramel21	G	A	4: 143,343,801 (GRCm39)	R367K	probably benign	Het
Prdx3	A	C	19: 60,861,621 (GRCm39)	C39W	possibly damaging	Het
Qrfpr	T	G	3: 36,276,073 (GRCm39)	N106H	probably benign	Het
Rai14	G	A	15: 10,575,776 (GRCm39)	T394M	possibly damaging	Het
Ralgapa2	A	T	2: 146,188,669 (GRCm39)	L1371Q	probably benign	Het
Rbm12	A	G	2: 155,939,048 (GRCm39)	L408P	probably damaging	Het
Rdx	T	C	9: 51,977,174 (GRCm39)	I141T	probably benign	Het
Reep1	T	A	6: 71,684,985 (GRCm39)	V11E	possibly damaging	Het
Relch	T	A	1: 105,649,030 (GRCm39)	M723K	probably benign	Het
Sall4	A	G	2: 168,592,347 (GRCm39)	S936P	probably damaging	Het
Serac1	A	G	17: 6,102,065 (GRCm39)	M403T	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc35g2	T	G	9: 100,435,549 (GRCm39)	I41L	probably benign	Het
Slc39a12	G	A	2: 14,405,134 (GRCm39)	S242N	probably benign	Het
Slc9a2	T	A	1: 40,801,076 (GRCm39)	D535E	probably damaging	Het
Spata31d1a	G	T	13: 59,849,459 (GRCm39)	P890T	probably damaging	Het
Sync	A	G	4: 129,187,232 (GRCm39)	Q88R	probably benign	Het
Tdrp	A	G	8: 14,024,527 (GRCm39)		probably benign	Het
Tg	G	T	15: 66,565,168 (GRCm39)	C1170F	probably damaging	Het
Tnp2	T	A	16: 10,606,207 (GRCm39)	T87S	possibly damaging	Het
Tpp2	T	C	1: 44,010,875 (GRCm39)	V554A	probably benign	Het
Traf3ip2	T	C	10: 39,521,735 (GRCm39)	I431T	probably damaging	Het
Trav9d-4	A	T	14: 53,221,258 (GRCm39)	H84L	probably damaging	Het
Vmn2r42	T	A	7: 8,187,276 (GRCm39)	Y782F	probably damaging	Het
Vwf	T	C	6: 125,547,567 (GRCm39)	S231P	probably damaging	Het
Wdr83os	A	G	8: 85,808,496 (GRCm39)	S83G	probably damaging	Het
Wdr91	T	A	6: 34,885,234 (GRCm39)	Q109L	probably damaging	Het
Znrf4	A	G	17: 56,818,864 (GRCm39)	C148R	possibly 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
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
R9649:Tnks	UTSW	8	35,306,089 (GRCm39)	missense	probably damaging	0.96
Z1177:Tnks	UTSW	8	35,432,299 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGTGACACTTACCTGCCAGG -3'
(R):5'- CAAAAGTTCCCCAGTATCCTCTG -3'

Sequencing Primer
(F):5'- CAGGTGGAGAGGGGTTGAATTTC -3'
(R):5'- TAGGTTTCCTTCCAGCTG -3'

Posted On

2015-11-11