Mutagenetix > Incidental Mutation

Incidental Mutation 'R2898:Tnks2'

261394

Institutional Source

Beutler Lab

Gene Symbol

Tnks2

Ensembl Gene

ENSMUSG00000024811

Gene Name

tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2

Synonyms

5430432P15Rik

MMRRC Submission

040486-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2898 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

36811632-36870877 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 36849990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025729] [ENSMUST00000164665] [ENSMUST00000167724]

AlphaFold

Q3UES3

Predicted Effect

probably null
Transcript: ENSMUST00000025729

SMART Domains

Protein: ENSMUSP00000025729
Gene: ENSMUSG00000024811

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
ANK	57	86	8.07e-5	SMART
ANK	90	119	1.78e-6	SMART
ANK	123	152	6.46e-4	SMART
ANK	210	239	1.76e-5	SMART
ANK	243	272	3.91e-3	SMART
ANK	276	305	3.23e-4	SMART
ANK	363	395	1.57e-2	SMART
ANK	399	428	4.5e-3	SMART
ANK	432	461	4.89e-4	SMART
ANK	525	554	1.43e-5	SMART
ANK	558	587	6.55e-5	SMART
ANK	591	620	1.24e-5	SMART
low complexity region	641	659	N/A	INTRINSIC
ANK	678	707	1.69e-7	SMART
ANK	711	740	3.65e-3	SMART
ANK	744	773	3.36e-2	SMART
low complexity region	822	863	N/A	INTRINSIC
SAM	870	936	1.03e-10	SMART
Pfam:PARP	952	1157	4.9e-28	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000164665

SMART Domains

Protein: ENSMUSP00000132440
Gene: ENSMUSG00000024811

Domain	Start	End	E-Value	Type
ANK	3	32	6.55e-5	SMART
ANK	36	65	1.24e-5	SMART
low complexity region	86	104	N/A	INTRINSIC
ANK	123	152	1.69e-7	SMART
ANK	156	185	9.05e2	SMART
low complexity region	204	245	N/A	INTRINSIC
SAM	252	318	1.03e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167724

SMART Domains

Protein: ENSMUSP00000126888
Gene: ENSMUSG00000024811

Domain	Start	End	E-Value	Type
ANK	84	113	4.89e-4	SMART
Blast:ANK	143	171	9e-10	BLAST
ANK	177	206	1.43e-5	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele are viable but display decreased body weight and abnormal adipocyte glucose uptake in response to insulin stimulation. Mice homozygous for a different null allele show partial postnatal lethality as well as decreased body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	C	T	X: 77,413,868 (GRCm39)	Q198*	probably null	Het
Acap3	C	T	4: 155,987,916 (GRCm39)	R547C	possibly damaging	Het
Acap3	G	C	4: 155,989,388 (GRCm39)		probably null	Het
Adcy6	A	G	15: 98,491,369 (GRCm39)	S1075P	probably damaging	Het
Ankk1	T	A	9: 49,333,122 (GRCm39)	T121S	probably benign	Het
Bnc2	T	C	4: 84,211,152 (GRCm39)	I406V	probably damaging	Het
Bnipl	T	A	3: 95,150,360 (GRCm39)	H219L	probably benign	Het
Brwd1	C	A	16: 95,867,300 (GRCm39)	M178I	probably damaging	Het
Cep192	T	A	18: 67,988,341 (GRCm39)		probably null	Het
Chd5	T	C	4: 152,456,572 (GRCm39)	F970L	probably damaging	Het
Cit	A	G	5: 116,012,037 (GRCm39)		probably null	Het
Coq9	T	C	8: 95,579,752 (GRCm39)	Y236H	probably damaging	Het
Cxcr2	T	C	1: 74,198,130 (GRCm39)	V208A	probably benign	Het
Dnah10	G	A	5: 124,894,734 (GRCm39)	R3433H	probably damaging	Het
Dnmt3b	G	T	2: 153,509,550 (GRCm39)	V268L	possibly damaging	Het
Fbxw21	T	C	9: 108,985,404 (GRCm39)	T125A	possibly damaging	Het
Fzd9	T	G	5: 135,278,700 (GRCm39)	D395A	probably damaging	Het
Gfm2	T	C	13: 97,309,469 (GRCm39)	V642A	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Hid1	A	G	11: 115,241,356 (GRCm39)	S645P	probably benign	Het
Hmgxb3	C	T	18: 61,288,368 (GRCm39)	V500M	probably benign	Het
Hnf1a	C	T	5: 115,098,106 (GRCm39)	W165*	probably null	Het
Hsd3b1	A	T	3: 98,760,623 (GRCm39)	C123S	probably benign	Het
Inpp4a	A	T	1: 37,405,675 (GRCm39)	H148L	probably benign	Het
Itpr2	C	T	6: 146,074,839 (GRCm39)	R2338Q	probably benign	Het
Itpr2	A	T	6: 146,224,667 (GRCm39)	I1441N	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Lmo7	A	G	14: 102,114,350 (GRCm39)	T31A	possibly damaging	Het
Lrrc15	C	T	16: 30,092,604 (GRCm39)	R245H	probably benign	Het
Lrriq1	T	C	10: 103,063,111 (GRCm39)	N65S	probably damaging	Het
Mpp4	T	C	1: 59,183,853 (GRCm39)	I296V	probably benign	Het
Myo6	T	A	9: 80,176,893 (GRCm39)		probably null	Het
Myo7a	G	T	7: 97,703,631 (GRCm39)	Y2003*	probably null	Het
Myo7a	T	C	7: 97,746,413 (GRCm39)	N246D	probably damaging	Het
Ndrg4	A	G	8: 96,405,014 (GRCm39)		probably null	Het
Neu2	A	G	1: 87,522,782 (GRCm39)	S72G	probably benign	Het
Or51g1	T	A	7: 102,634,084 (GRCm39)	I96F	probably benign	Het
Or8b1c	T	C	9: 38,384,271 (GRCm39)	V76A	probably damaging	Het
Pcdhb1	A	G	18: 37,399,516 (GRCm39)	Y489C	probably damaging	Het
Ppp1r10	A	G	17: 36,239,784 (GRCm39)	K501R	probably damaging	Het
Ppp1r9a	C	T	6: 4,906,558 (GRCm39)	T371I	probably benign	Het
Prpf8	A	T	11: 75,386,860 (GRCm39)	T1102S	probably benign	Het
Ric8b	T	G	10: 84,783,761 (GRCm39)	D206E	probably benign	Het
Sacm1l	T	C	9: 123,389,666 (GRCm39)		probably null	Het
Sema6c	C	A	3: 95,080,129 (GRCm39)	L776M	probably damaging	Het
Serpinb8	A	G	1: 107,534,776 (GRCm39)	T32A	unknown	Het
Sh2b3	A	T	5: 121,967,111 (GRCm39)	M1K	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Spty2d1	T	A	7: 46,643,100 (GRCm39)	M664L	unknown	Het
Stk36	T	A	1: 74,671,984 (GRCm39)	S895T	probably null	Het
Sycp3	G	A	10: 88,308,544 (GRCm39)	E205K	possibly damaging	Het
Taok3	A	G	5: 117,338,134 (GRCm39)		probably null	Het
Tasor2	T	C	13: 3,635,122 (GRCm39)	N562D	possibly damaging	Het
Tbc1d16	A	T	11: 119,048,654 (GRCm39)	I333N	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Thumpd2	C	T	17: 81,351,557 (GRCm39)	W288*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm1	T	C	9: 66,938,322 (GRCm39)	D254G	probably damaging	Het
Usp53	A	T	3: 122,751,223 (GRCm39)	L278*	probably null	Het
Zfp37	C	T	4: 62,110,014 (GRCm39)	G350D	probably damaging	Het
Zfp777	C	T	6: 48,002,594 (GRCm39)	E543K	probably damaging	Het
Zfp81	A	T	17: 33,553,274 (GRCm39)	C513*	probably null	Het

Other mutations in Tnks2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Tnks2	APN	19	36,849,033 (GRCm39)	missense	probably benign	0.00
IGL01977:Tnks2	APN	19	36,849,990 (GRCm39)	critical splice donor site	probably null
IGL02389:Tnks2	APN	19	36,861,503 (GRCm39)	missense	probably benign	0.32
IGL02653:Tnks2	APN	19	36,849,851 (GRCm39)	missense	probably damaging	1.00
IGL02678:Tnks2	APN	19	36,823,143 (GRCm39)	missense	possibly damaging	0.63
R0053:Tnks2	UTSW	19	36,852,765 (GRCm39)	missense	probably damaging	1.00
R0053:Tnks2	UTSW	19	36,852,765 (GRCm39)	missense	probably damaging	1.00
R0426:Tnks2	UTSW	19	36,830,221 (GRCm39)	missense	probably damaging	1.00
R0436:Tnks2	UTSW	19	36,826,758 (GRCm39)	missense	possibly damaging	0.51
R0591:Tnks2	UTSW	19	36,849,962 (GRCm39)	missense	probably damaging	0.99
R0648:Tnks2	UTSW	19	36,839,474 (GRCm39)	splice site	probably null
R0894:Tnks2	UTSW	19	36,867,450 (GRCm39)	critical splice donor site	probably null
R1397:Tnks2	UTSW	19	36,857,901 (GRCm39)	splice site	probably benign
R1459:Tnks2	UTSW	19	36,822,931 (GRCm39)	splice site	probably benign
R1674:Tnks2	UTSW	19	36,849,022 (GRCm39)	missense	probably benign	0.03
R1742:Tnks2	UTSW	19	36,853,661 (GRCm39)	missense	probably damaging	1.00
R1928:Tnks2	UTSW	19	36,823,068 (GRCm39)	nonsense	probably null
R2025:Tnks2	UTSW	19	36,843,466 (GRCm39)	missense	probably damaging	0.99
R4422:Tnks2	UTSW	19	36,823,053 (GRCm39)	missense	probably damaging	1.00
R4676:Tnks2	UTSW	19	36,852,671 (GRCm39)	nonsense	probably null
R5202:Tnks2	UTSW	19	36,866,252 (GRCm39)	missense	probably damaging	1.00
R5357:Tnks2	UTSW	19	36,826,690 (GRCm39)	splice site	silent
R5467:Tnks2	UTSW	19	36,859,176 (GRCm39)	missense	probably damaging	1.00
R5550:Tnks2	UTSW	19	36,839,746 (GRCm39)	missense	probably damaging	1.00
R6119:Tnks2	UTSW	19	36,856,752 (GRCm39)	missense	possibly damaging	0.79
R6219:Tnks2	UTSW	19	36,843,604 (GRCm39)	intron	probably benign
R7270:Tnks2	UTSW	19	36,836,545 (GRCm39)	missense
R7309:Tnks2	UTSW	19	36,829,936 (GRCm39)	missense	probably damaging	1.00
R7310:Tnks2	UTSW	19	36,856,839 (GRCm39)	missense	probably benign	0.12
R7516:Tnks2	UTSW	19	36,849,064 (GRCm39)	missense	possibly damaging	0.85
R7823:Tnks2	UTSW	19	36,829,954 (GRCm39)	critical splice donor site	probably null
R7951:Tnks2	UTSW	19	36,839,555 (GRCm39)	missense
R7961:Tnks2	UTSW	19	36,829,901 (GRCm39)	missense	probably benign	0.15
R8009:Tnks2	UTSW	19	36,829,901 (GRCm39)	missense	probably benign	0.15
R8193:Tnks2	UTSW	19	36,832,353 (GRCm39)	missense	possibly damaging	0.70
R8919:Tnks2	UTSW	19	36,823,088 (GRCm39)	missense	probably damaging	0.97
R9329:Tnks2	UTSW	19	36,835,284 (GRCm39)	missense	probably damaging	1.00
Z1177:Tnks2	UTSW	19	36,866,280 (GRCm39)	missense	probably benign	0.10
Z1177:Tnks2	UTSW	19	36,811,977 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- ACCAGAATACTCTATTGGGCAG -3'
(R):5'- AAGTTGGACAGCAACTATCACATG -3'

Sequencing Primer
(F):5'- CAGAATACTCTATTGGGCAGTTTAAG -3'
(R):5'- TCACATGATAGGTGGCTATA -3'

Posted On

2015-01-23