Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01455:Tnks'

84754

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnks

Ensembl Gene

ENSMUSG00000031529

Gene Name

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

Synonyms

mTNKS1, TANK1, tankyrase 1, 4930554K12Rik, D130072O21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01455

Quality Score

Status

Chromosome

Chromosomal Location

35296333-35432844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35408054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 225 (V225L)

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: V225L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033929
Gene: ENSMUSG00000031529
AA Change: V225L

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,214,131 (GRCm39)	D87G	possibly damaging	Het
Adgra3	G	A	5: 50,144,899 (GRCm39)	R565*	probably null	Het
Akap12	C	T	10: 4,306,886 (GRCm39)	T1232I	probably damaging	Het
Arb2a	A	T	13: 78,050,766 (GRCm39)		probably benign	Het
B3gnt2	A	T	11: 22,787,042 (GRCm39)	W49R	probably damaging	Het
Ccdc112	T	A	18: 46,426,511 (GRCm39)	K137N	possibly damaging	Het
Ccdc117	G	T	11: 5,484,297 (GRCm39)	T181K	possibly damaging	Het
Cfh	T	C	1: 140,033,277 (GRCm39)	K756E	possibly damaging	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cyp2c29	T	A	19: 39,317,561 (GRCm39)	I349K	possibly damaging	Het
Dcaf15	T	C	8: 84,825,219 (GRCm39)	T434A	probably benign	Het
Entpd5	T	C	12: 84,441,451 (GRCm39)	I106V	probably benign	Het
Eps8l1	T	A	7: 4,481,922 (GRCm39)		probably benign	Het
Erbin	G	T	13: 103,995,895 (GRCm39)	P269Q	probably damaging	Het
Fbxw22	C	T	9: 109,214,062 (GRCm39)	M251I	probably benign	Het
Fgd4	T	A	16: 16,308,354 (GRCm39)	T9S	probably benign	Het
Haus8	T	C	8: 71,705,875 (GRCm39)	I270V	probably benign	Het
Herc4	T	A	10: 63,121,922 (GRCm39)		probably null	Het
Hspg2	G	A	4: 137,281,128 (GRCm39)	V3367M	probably damaging	Het
Htr1f	A	T	16: 64,746,385 (GRCm39)	F302L	probably damaging	Het
Inpp5f	T	C	7: 128,279,773 (GRCm39)	C458R	probably damaging	Het
Klhl18	T	C	9: 110,261,511 (GRCm39)	E411G	probably damaging	Het
Krt20	A	T	11: 99,322,769 (GRCm39)	F289I	probably benign	Het
Mical1	T	C	10: 41,355,065 (GRCm39)		probably null	Het
Nav1	T	C	1: 135,397,373 (GRCm39)	D932G	probably benign	Het
Nme4	A	T	17: 26,311,036 (GRCm39)	D176E	probably benign	Het
Nox4	C	T	7: 87,025,424 (GRCm39)	S517L	possibly damaging	Het
Or1j13	A	T	2: 36,369,368 (GRCm39)	L258H	probably damaging	Het
Pate8	T	A	9: 36,492,659 (GRCm39)	H82L	probably benign	Het
Pip5k1a	T	C	3: 94,975,471 (GRCm39)	D333G	probably benign	Het
Polb	T	C	8: 23,143,088 (GRCm39)	Y36C	probably damaging	Het
Spta1	T	C	1: 174,030,877 (GRCm39)	I953T	possibly damaging	Het
Sptb	A	T	12: 76,659,686 (GRCm39)	D1071E	probably damaging	Het
Stxbp3-ps	T	C	19: 9,535,371 (GRCm39)		noncoding transcript	Het
Tmcc3	A	T	10: 94,422,617 (GRCm39)	I356F	probably damaging	Het
Tmem262	G	T	19: 6,130,189 (GRCm39)	R6L	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
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
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

Posted On

2013-11-11