Mutagenetix > Incidental Mutation

Incidental Mutation 'R5557:Tnks1bp1'

435433

Institutional Source

Beutler Lab

Gene Symbol

Tnks1bp1

Ensembl Gene

ENSMUSG00000033955

Gene Name

tankyrase 1 binding protein 1

Synonyms

TAB182

MMRRC Submission

043114-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85048022-85073048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85063800 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 695 (V695A)

Ref Sequence

ENSEMBL: ENSMUSP00000045767 (fasta)

Gene Model

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

AlphaFold

P58871

Predicted Effect

probably damaging
Transcript: ENSMUST00000048400
AA Change: V695A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: V695A

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: V1357A

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: V1357A

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: ENSMUST00000151092

Meta Mutation Damage Score

0.0691

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	A	19: 3,717,501	F363I	possibly damaging	Het
Abcb1a	T	A	5: 8,714,949	N646K	probably benign	Het
Abi2	C	A	1: 60,438,912		probably benign	Het
Adamts13	T	C	2: 26,973,639	S35P	probably benign	Het
B4galt3	A	G	1: 171,272,519		probably null	Het
Bag5	T	C	12: 111,710,090	N433S	probably benign	Het
Birc7	T	A	2: 180,932,979	V218D	probably benign	Het
Catsperg1	T	G	7: 29,195,871	N332T	possibly damaging	Het
Ccdc191	A	C	16: 43,908,613	T179P	probably damaging	Het
Col4a3	C	T	1: 82,715,247		probably benign	Het
Crlf1	A	G	8: 70,498,667	I65M	probably benign	Het
Dennd4a	T	G	9: 64,904,227	D1376E	probably benign	Het
Dennd4b	G	A	3: 90,268,368	R148Q	probably damaging	Het
Dlg4	C	T	11: 70,042,280	P504L	probably damaging	Het
Dopey2	A	G	16: 93,763,931	T886A	probably damaging	Het
Dst	T	A	1: 34,282,586	V4394E	probably damaging	Het
Endov	T	C	11: 119,502,360	M112T	possibly damaging	Het
Eps8	T	C	6: 137,479,096	M796V	possibly damaging	Het
Fam107b	T	A	2: 3,770,754	Y7*	probably null	Het
Farsb	C	T	1: 78,469,251		probably null	Het
Fasn	A	G	11: 120,812,426	M1591T	probably benign	Het
Fbn2	C	T	18: 58,115,659	A384T	probably benign	Het
Fnta	T	C	8: 25,999,536	D349G	probably damaging	Het
Glis3	G	T	19: 28,264,009	H842N	probably benign	Het
Gm17067	G	A	7: 42,708,521	P186S	probably damaging	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Hk3	A	T	13: 55,012,075	L362*	probably null	Het
Ing3	A	G	6: 21,968,909	H130R	possibly damaging	Het
Inpp4b	A	T	8: 81,952,259	Q306L	probably damaging	Het
Kcnq2	T	C	2: 181,134,897	K66E	probably benign	Het
Kif21b	C	A	1: 136,170,059	N1352K	probably damaging	Het
Lrig3	A	T	10: 125,972,134	N84Y	probably damaging	Het
Mill2	T	A	7: 18,855,959	Y55*	probably null	Het
Mmachc	T	C	4: 116,705,900	H86R	probably damaging	Het
Ncbp1	T	C	4: 46,165,259	V524A	probably benign	Het
Olfr1116	A	T	2: 87,269,392	T204S	possibly damaging	Het
Olfr1189	G	A	2: 88,592,553	V250M	probably damaging	Het
Olfr1453	C	A	19: 13,027,640	A230S	probably benign	Het
Olfr312	G	A	11: 58,831,987	V278I	probably benign	Het
Olfr357	T	A	2: 36,997,346	C179S	probably damaging	Het
Olfr832	T	C	9: 18,945,170	I174T	possibly damaging	Het
Pigu	G	T	2: 155,278,629	Y404*	probably null	Het
Plaa	A	T	4: 94,584,007		probably null	Het
Plcg2	A	T	8: 117,586,557	I487F	probably damaging	Het
Plekhh2	T	C	17: 84,560,152	I162T	probably benign	Het
Ptprz1	T	A	6: 23,001,001	V1030D	probably benign	Het
Raver2	C	A	4: 101,136,139	S505R	probably benign	Het
Samd7	A	T	3: 30,756,620	Q262L	probably benign	Het
Scn9a	T	A	2: 66,547,103	N412Y	probably damaging	Het
Sytl1	C	A	4: 133,259,356	R91M	probably damaging	Het
Tead3	A	T	17: 28,336,270		probably benign	Het
Tgm1	A	G	14: 55,705,643	M580T	probably benign	Het
Themis	A	T	10: 28,781,886	Q150L	possibly damaging	Het
Tmem213	T	C	6: 38,109,531	S41P	possibly damaging	Het
Trim23	A	T	13: 104,187,509	T159S	probably damaging	Het
Trim66	T	C	7: 109,483,737	Y166C	probably benign	Het
Troap	A	T	15: 99,075,794	T111S	possibly damaging	Het
Ttn	T	C	2: 76,890,390		probably null	Het
Tub	T	G	7: 109,025,718	S180A	probably damaging	Het
Vcan	A	G	13: 89,703,112	V1243A	possibly damaging	Het
Zfp608	T	C	18: 54,987,870	D215G	possibly damaging	Het
Zfp638	T	A	6: 83,967,363	V1021E	probably damaging	Het
Zim1	T	A	7: 6,677,711	I318F	probably 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
R0189:Tnks1bp1	UTSW	2	85070929	missense	possibly damaging	0.77
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
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'- TTGAGAAACATGGCCCCAGG -3'
(R):5'- TCTTCAGAAGGAGTCTCAAAGGAAG -3'

Sequencing Primer
(F):5'- AACATGGCCCCAGGAGCAG -3'
(R):5'- AAGGTGACGAGCTGTCTTCAC -3'

Posted On

2016-10-24