Mutagenetix > Incidental Mutation

Incidental Mutation 'R0189:Tnks1bp1'

23089

Institutional Source

Beutler Lab

Gene Symbol

Tnks1bp1

Ensembl Gene

ENSMUSG00000033955

Gene Name

tankyrase 1 binding protein 1

Synonyms

TAB182

MMRRC Submission

038450-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0189 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

85048022-85073048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85070929 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 960 (S960G)

Ref Sequence

ENSEMBL: ENSMUSP00000045767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048400] [ENSMUST00000111605]

AlphaFold

P58871

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048400
AA Change: S960G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: S960G

Domain	Start	End	E-Value	Type
low complexity region	77	96	N/A	INTRINSIC
low complexity region	292	298	N/A	INTRINSIC
low complexity region	809	827	N/A	INTRINSIC
low complexity region	868	875	N/A	INTRINSIC
Tankyrase_bdg_C	883	1055	1.98e-79	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111605
AA Change: S1622G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: S1622G

Domain	Start	End	E-Value	Type
low complexity region	37	44	N/A	INTRINSIC
low complexity region	59	72	N/A	INTRINSIC
low complexity region	296	316	N/A	INTRINSIC
low complexity region	380	391	N/A	INTRINSIC
low complexity region	496	518	N/A	INTRINSIC
low complexity region	739	758	N/A	INTRINSIC
low complexity region	954	960	N/A	INTRINSIC
low complexity region	1471	1489	N/A	INTRINSIC
low complexity region	1530	1537	N/A	INTRINSIC
Tankyrase_bdg_C	1545	1717	1.98e-79	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151092

Meta Mutation Damage Score

0.0613

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.1%

Validation Efficiency

98% (96/98)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,096,947	V207A	possibly damaging	Het
Abca9	A	T	11: 110,108,653	W1459R	probably damaging	Het
Abca9	A	T	11: 110,141,662		probably benign	Het
Adam25	T	A	8: 40,755,430	C578S	probably damaging	Het
Adam32	T	A	8: 24,922,337		probably null	Het
Add1	T	C	5: 34,616,648	V67A	probably benign	Het
Aggf1	A	T	13: 95,356,480		probably benign	Het
Ahcyl2	A	T	6: 29,891,243	I449F	probably benign	Het
Ak6	A	G	13: 100,655,142	Y31C	probably damaging	Het
Akap6	T	C	12: 53,141,254	V1817A	probably benign	Het
Arhgef17	G	T	7: 100,928,850	P964T	probably damaging	Het
Atxn7l3b	A	T	10: 112,928,580	L48Q	possibly damaging	Het
Bbs10	T	G	10: 111,301,065	S680A	probably damaging	Het
Bcl7c	G	A	7: 127,705,764	T164I	probably damaging	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
Ccdc110	T	A	8: 45,935,082	D25E	probably damaging	Het
Ccdc83	T	A	7: 90,226,683	T327S	possibly damaging	Het
Coro1b	T	C	19: 4,153,251	Y364H	probably damaging	Het
Cstf3	A	G	2: 104,652,446	D313G	probably damaging	Het
Dlgap5	T	A	14: 47,412,975		probably null	Het
Dusp3	A	T	11: 101,981,721	I83N	probably damaging	Het
Eea1	A	T	10: 95,995,582	K178N	possibly damaging	Het
Efr3b	T	A	12: 3,982,925	D144V	probably damaging	Het
Gm1110	T	A	9: 26,883,218	E504V	probably null	Het
Got2	T	C	8: 95,888,253	H18R	probably benign	Het
Gprc5b	T	C	7: 118,983,633	M338V	probably benign	Het
Has2	A	T	15: 56,668,435	F295I	probably damaging	Het
Hcn3	T	C	3: 89,148,800	D519G	probably damaging	Het
Ino80	T	A	2: 119,379,679	D1377V	probably benign	Het
Iqsec3	A	T	6: 121,413,562		probably benign	Het
Kif3c	T	A	12: 3,365,989	S3R	probably benign	Het
Krt17	A	G	11: 100,260,619	I116T	possibly damaging	Het
Lrba	T	C	3: 86,368,509	V1728A	probably damaging	Het
Map3k6	G	T	4: 133,246,941	V550L	possibly damaging	Het
Mcph1	T	C	8: 18,788,471	V803A	probably damaging	Het
Med13	A	G	11: 86,319,876	V480A	probably benign	Het
Msh5	T	C	17: 35,029,654	E772G	probably null	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Ndfip2	T	C	14: 105,304,740	L308P	probably damaging	Het
Ndufb10	T	C	17: 24,724,235	T34A	probably benign	Het
Nipal3	A	T	4: 135,468,518	I258N	possibly damaging	Het
Nup54	A	G	5: 92,422,564	V328A	probably damaging	Het
Olfr1410	T	C	1: 92,607,893	F19L	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr615	G	T	7: 103,561,082	V202F	probably benign	Het
Olfr763	T	A	10: 129,011,322	F12L	possibly damaging	Het
Olfr923	T	A	9: 38,827,815	Y41*	probably null	Het
Oprm1	T	C	10: 6,789,071	V66A	possibly damaging	Het
Peg12	G	A	7: 62,463,548	T267I	unknown	Het
Phf20	A	G	2: 156,303,141	S890G	probably benign	Het
Plk2	C	T	13: 110,399,463	T567M	probably damaging	Het
Pola2	A	T	19: 5,942,342		probably benign	Het
Ppp1r12b	A	G	1: 134,865,776		probably null	Het
Prickle1	A	T	15: 93,503,019	L528*	probably null	Het
Prpf6	T	A	2: 181,655,457	N903K	probably benign	Het
Ptprc	G	A	1: 138,082,715	A601V	probably benign	Het
Ranbp1	A	T	16: 18,241,743		probably null	Het
Rapgef6	C	T	11: 54,691,249	S1334L	probably benign	Het
Rgs2	T	C	1: 144,002,284		probably null	Het
Ripk2	A	T	4: 16,129,125		probably null	Het
Rnf17	A	G	14: 56,482,193	S967G	probably null	Het
Rock2	T	A	12: 16,959,516		probably benign	Het
Rpusd3	C	T	6: 113,415,553		probably null	Het
Scgb1b20	G	T	7: 33,373,510	V48L	probably benign	Het
Sec16a	T	A	2: 26,424,414		probably null	Het
Serpina5	T	A	12: 104,103,330	L267H	probably damaging	Het
Slc12a3	C	T	8: 94,356,358	H875Y	probably benign	Het
Slc45a4	A	G	15: 73,581,914	S745P	probably benign	Het
Sucla2	T	C	14: 73,592,648	V375A	probably damaging	Het
Sun2	C	A	15: 79,737,076	V213F	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tac1	C	T	6: 7,562,424	R129C	probably damaging	Het
Taf6	T	C	5: 138,182,713	E202G	probably benign	Het
Tex21	T	A	12: 76,239,533	H64L	probably benign	Het
Tgs1	A	G	4: 3,593,620	S503G	probably benign	Het
Tmem184c	C	T	8: 77,597,812	V350I	possibly damaging	Het
Trbc2	T	C	6: 41,548,149		probably benign	Het
Tsta3	C	A	15: 75,926,978	D127Y	probably damaging	Het
Tubgcp2	A	T	7: 140,001,605		probably benign	Het
Vmn1r39	T	A	6: 66,805,197	T46S	probably benign	Het
Vmn1r61	T	C	7: 5,610,700	H205R	probably benign	Het
Zdhhc14	T	C	17: 5,725,264	S264P	possibly damaging	Het
Zfp101	T	A	17: 33,382,239	H181L	possibly damaging	Het

Other mutations in Tnks1bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00870:Tnks1bp1	APN	2	85062236	nonsense	probably null
IGL00974:Tnks1bp1	APN	2	85062882	missense	possibly damaging	0.86
IGL01874:Tnks1bp1	APN	2	85058447	missense	probably benign	0.01
IGL02419:Tnks1bp1	APN	2	85071781	missense	possibly damaging	0.60
IGL02441:Tnks1bp1	APN	2	85071799	missense	probably damaging	1.00
IGL02475:Tnks1bp1	APN	2	85059377	missense	probably damaging	1.00
IGL03181:Tnks1bp1	APN	2	85062714	missense	probably benign	0.00
K3955:Tnks1bp1	UTSW	2	85062411	missense	probably benign	0.01
P0038:Tnks1bp1	UTSW	2	85062411	missense	probably benign	0.01
PIT4791001:Tnks1bp1	UTSW	2	85062558	missense	probably benign	0.03
R0068:Tnks1bp1	UTSW	2	85062352	missense	probably benign	0.12
R0068:Tnks1bp1	UTSW	2	85062352	missense	probably benign	0.12
R0164:Tnks1bp1	UTSW	2	85059221	missense	possibly damaging	0.94
R0164:Tnks1bp1	UTSW	2	85059221	missense	possibly damaging	0.94
R0454:Tnks1bp1	UTSW	2	85072137	missense	probably damaging	1.00
R0650:Tnks1bp1	UTSW	2	85062630	missense	possibly damaging	0.68
R0737:Tnks1bp1	UTSW	2	85052536	missense	possibly damaging	0.93
R1718:Tnks1bp1	UTSW	2	85071738	missense	probably benign	0.44
R1749:Tnks1bp1	UTSW	2	85063067	missense	probably benign
R2194:Tnks1bp1	UTSW	2	85063065	missense	probably benign	0.06
R2314:Tnks1bp1	UTSW	2	85058915	missense	probably benign	0.01
R2379:Tnks1bp1	UTSW	2	85063838	missense	probably benign	0.16
R3056:Tnks1bp1	UTSW	2	85070000	nonsense	probably null
R3433:Tnks1bp1	UTSW	2	85071016	splice site	probably benign
R3751:Tnks1bp1	UTSW	2	85058722	start gained	probably benign
R4502:Tnks1bp1	UTSW	2	85062647	nonsense	probably null
R4694:Tnks1bp1	UTSW	2	85071722	missense	probably damaging	1.00
R4785:Tnks1bp1	UTSW	2	85063034	missense	probably damaging	1.00
R5079:Tnks1bp1	UTSW	2	85062626	missense	probably damaging	1.00
R5208:Tnks1bp1	UTSW	2	85070632	missense	probably damaging	0.96
R5265:Tnks1bp1	UTSW	2	85062754	missense	probably benign	0.01
R5512:Tnks1bp1	UTSW	2	85062834	missense	probably benign	0.00
R5557:Tnks1bp1	UTSW	2	85063800	missense	probably damaging	0.97
R6016:Tnks1bp1	UTSW	2	85052390	missense	probably damaging	1.00
R6177:Tnks1bp1	UTSW	2	85059280	start gained	probably benign
R6516:Tnks1bp1	UTSW	2	85070727	missense	probably damaging	0.97
R6517:Tnks1bp1	UTSW	2	85059345	missense	probably benign	0.00
R7032:Tnks1bp1	UTSW	2	85061953	missense	probably benign	0.00
R7120:Tnks1bp1	UTSW	2	85072097	missense	probably damaging	1.00
R7302:Tnks1bp1	UTSW	2	85052354	missense	probably benign	0.24
R7393:Tnks1bp1	UTSW	2	85062866	missense	probably benign
R7535:Tnks1bp1	UTSW	2	85063280	nonsense	probably null
R7596:Tnks1bp1	UTSW	2	85062713	missense	probably benign	0.14
R7680:Tnks1bp1	UTSW	2	85059241	missense	probably benign	0.36
R8345:Tnks1bp1	UTSW	2	85062882	missense	possibly damaging	0.86
R8413:Tnks1bp1	UTSW	2	85062278	missense	probably damaging	1.00
R8768:Tnks1bp1	UTSW	2	85070636	nonsense	probably null
R8936:Tnks1bp1	UTSW	2	85063976	missense	probably benign	0.00
R8991:Tnks1bp1	UTSW	2	85063946	missense	probably benign	0.00
R9007:Tnks1bp1	UTSW	2	85070704	missense	probably damaging	1.00
R9118:Tnks1bp1	UTSW	2	85063376	missense	probably damaging	1.00
R9709:Tnks1bp1	UTSW	2	85071781	missense	probably benign	0.00
R9732:Tnks1bp1	UTSW	2	85059383	missense	probably damaging	1.00
Z1176:Tnks1bp1	UTSW	2	85063530	missense	probably damaging	0.99
Z1177:Tnks1bp1	UTSW	2	85059003	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTCAGAGACAGCAGACTCGGATAC -3'
(R):5'- CACACTGCATAGAGTCGAGCAAGG -3'

Sequencing Primer
(F):5'- GGCTGTTCCAAGATTCAACCG -3'
(R):5'- ACTATAAGGTGCATGGCTGTATG -3'

Posted On

2013-04-16