Mutagenetix > Incidental Mutation

Incidental Mutation 'R7516:Tnks2'

582497

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

045589-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36811632-36870877 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36849064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 179 (S179T)

Ref Sequence

ENSEMBL: ENSMUSP00000126888 (fasta)

Gene Model

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

AlphaFold

Q3UES3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025729
AA Change: S527T

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025729
Gene: ENSMUSG00000024811
AA Change: S527T

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 benign
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

possibly damaging
Transcript: ENSMUST00000167724
AA Change: S179T

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126888
Gene: ENSMUSG00000024811
AA Change: S179T

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	A	14: 68,868,125 (GRCm39)	I407F	probably damaging	Het
Agbl1	A	G	7: 76,075,669 (GRCm39)	Y437C	probably damaging	Het
Alkbh5	T	C	11: 60,429,979 (GRCm39)	V244A	probably damaging	Het
Arap1	T	C	7: 101,058,538 (GRCm39)	F1390L	probably benign	Het
Asph	T	C	4: 9,630,940 (GRCm39)	D136G	possibly damaging	Het
Atp8a2	A	T	14: 60,094,516 (GRCm39)	Y841N	probably damaging	Het
Cald1	A	T	6: 34,686,492 (GRCm39)		probably benign	Het
Capn11	A	G	17: 45,949,766 (GRCm39)	I400T	possibly damaging	Het
Cdh18	T	A	15: 23,259,684 (GRCm39)		probably null	Het
Ces2h	T	A	8: 105,743,458 (GRCm39)	L204Q	probably damaging	Het
Chrna3	G	A	9: 54,922,653 (GRCm39)	A385V	probably benign	Het
Clca4a	A	T	3: 144,672,009 (GRCm39)	L311Q	probably damaging	Het
Clip1	A	G	5: 123,721,448 (GRCm39)	V1149A	probably benign	Het
Clip3	T	A	7: 29,998,268 (GRCm39)	V238D	possibly damaging	Het
Col12a1	A	G	9: 79,520,192 (GRCm39)		probably null	Het
Coro2a	A	G	4: 46,562,992 (GRCm39)	V54A	probably benign	Het
Crem	T	C	18: 3,299,141 (GRCm39)		probably null	Het
Dennd5b	T	C	6: 148,969,878 (GRCm39)	I192V	probably benign	Het
Dst	A	G	1: 34,209,560 (GRCm39)	N1209S	probably benign	Het
Ero1a	T	A	14: 45,525,480 (GRCm39)	M385L	probably benign	Het
Fam13a	A	T	6: 58,932,248 (GRCm39)	V375D	probably damaging	Het
Fgfbp3	T	A	19: 36,896,324 (GRCm39)	Y98F	possibly damaging	Het
Frem3	T	C	8: 81,338,712 (GRCm39)	V335A	probably damaging	Het
Gm19410	T	A	8: 36,263,433 (GRCm39)	D951E	probably benign	Het
Gpatch1	T	C	7: 35,007,625 (GRCm39)	D145G	probably benign	Het
H60c	G	T	10: 3,209,746 (GRCm39)	C180*	probably null	Het
Hmcn1	T	C	1: 150,498,718 (GRCm39)	T4054A	probably benign	Het
Hrg	A	G	16: 22,780,048 (GRCm39)	Y442C	unknown	Het
Hspg2	C	T	4: 137,269,931 (GRCm39)	R2327C	possibly damaging	Het
Klhl31	G	T	9: 77,558,429 (GRCm39)	A382S	probably damaging	Het
Knl1	T	C	2: 118,901,179 (GRCm39)	V960A	probably damaging	Het
Lztr1	C	T	16: 17,327,525 (GRCm39)	A76V	possibly damaging	Het
Me3	G	T	7: 89,497,183 (GRCm39)	E395*	probably null	Het
Morc2b	G	A	17: 33,356,435 (GRCm39)	H446Y	probably benign	Het
Mroh7	A	T	4: 106,548,316 (GRCm39)	M1054K	probably benign	Het
Ms4a6b	T	C	19: 11,506,907 (GRCm39)	V232A	probably benign	Het
Nmt2	C	A	2: 3,313,767 (GRCm39)	D224E	probably damaging	Het
Nox4	C	A	7: 86,970,905 (GRCm39)	R261S	probably benign	Het
Obscn	T	A	11: 59,015,416 (GRCm39)	K1019*	probably null	Het
Or4a15	T	A	2: 89,193,719 (GRCm39)	N18I	probably benign	Het
Or4g7	T	A	2: 111,309,282 (GRCm39)	V51D	probably benign	Het
Or5p67	G	A	7: 107,922,223 (GRCm39)	S220F	probably damaging	Het
Or8k24	C	T	2: 86,216,328 (GRCm39)	V145I	probably benign	Het
Pcdha11	A	T	18: 37,144,671 (GRCm39)	N254I	probably damaging	Het
Pck2	T	A	14: 55,779,913 (GRCm39)	I54N	probably benign	Het
Pkd1l3	T	A	8: 110,361,861 (GRCm39)	W978R	probably damaging	Het
Plxna4	T	C	6: 32,214,703 (GRCm39)	T593A	probably benign	Het
Podn	G	A	4: 107,879,321 (GRCm39)	R266W	probably damaging	Het
Ptpn22	A	G	3: 103,792,854 (GRCm39)	D335G	probably benign	Het
Pxn	A	G	5: 115,644,922 (GRCm39)	D3G	unknown	Het
Rapgefl1	T	G	11: 98,736,960 (GRCm39)	V320G	probably benign	Het
Rel	A	G	11: 23,692,785 (GRCm39)	I416T	probably benign	Het
Sema5b	A	G	16: 35,471,540 (GRCm39)	N378D	probably benign	Het
Sh3bp4	C	A	1: 89,073,368 (GRCm39)	L739M	probably damaging	Het
Skint2	A	T	4: 112,483,168 (GRCm39)	D191V	probably damaging	Het
Slc3a1	T	C	17: 85,371,190 (GRCm39)	Y581H	probably damaging	Het
Smcr8	G	T	11: 60,670,814 (GRCm39)	C654F	probably benign	Het
Spta1	A	C	1: 174,025,349 (GRCm39)	Q738P	probably damaging	Het
Sptlc3	C	A	2: 139,431,438 (GRCm39)	A320D	probably benign	Het
Thnsl2	T	A	6: 71,108,990 (GRCm39)	K274*	probably null	Het
Tmed2	T	A	5: 124,685,055 (GRCm39)	I68K	possibly damaging	Het
Tmtc4	G	A	14: 123,180,735 (GRCm39)	A326V	possibly damaging	Het
Trim34b	G	T	7: 103,978,918 (GRCm39)	C55F	probably damaging	Het
Trpm4	T	A	7: 44,954,444 (GRCm39)	E1129V	probably damaging	Het
Tvp23b	T	C	11: 62,782,867 (GRCm39)	S188P	possibly damaging	Het
Usp1	A	G	4: 98,822,356 (GRCm39)	T557A	probably damaging	Het
Vmn2r66	C	T	7: 84,661,176 (GRCm39)	C18Y	possibly damaging	Het
Vmn2r85	T	A	10: 130,254,852 (GRCm39)	T611S	probably damaging	Het
Vps13c	T	C	9: 67,862,289 (GRCm39)	S2969P	possibly damaging	Het
Wdr74	T	A	19: 8,713,554 (GRCm39)	C62*	probably null	Het
Wfikkn1	A	T	17: 26,097,020 (GRCm39)	C435S	probably damaging	Het
Zbtb45	A	T	7: 12,740,269 (GRCm39)	F449I	probably damaging	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
R2898:Tnks2	UTSW	19	36,849,990 (GRCm39)	critical splice donor site	probably null
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
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'- CTTAGTACTTGAAGGAAGGGTATCAG -3'
(R):5'- AGCTATCACTGAACCAATTTTAGGAAG -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCAGGAGG -3'
(R):5'- AGGCAGGATCTCTTTCTC -3'

Posted On

2019-10-17