Mutagenetix > Incidental Mutation

Incidental Mutation 'R0068:Tnks1bp1'

64407

Institutional Source

Beutler Lab

Gene Symbol

Tnks1bp1

Ensembl Gene

ENSMUSG00000033955

Gene Name

tankyrase 1 binding protein 1

Synonyms

TAB182

MMRRC Submission

038359-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0068 (G1)

Quality Score

121

Status

Validated

Chromosome

Chromosomal Location

85048022-85073048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85062352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 212 (D212E)

Ref Sequence

ENSEMBL: ENSMUSP00000045767 (fasta)

Gene Model

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

AlphaFold

P58871

Predicted Effect

probably benign
Transcript: ENSMUST00000048400
AA Change: D212E

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: D212E

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

probably benign
Transcript: ENSMUST00000111605
AA Change: D874E

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: D874E

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: ENSMUST00000148682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151092

Meta Mutation Damage Score

0.1727

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 92.6%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,952,221	T1675A	probably benign	Het
Abca6	T	C	11: 110,182,882	T1448A	probably damaging	Het
Aldoart2	G	T	12: 55,565,448	E53*	probably null	Het
Ankra2	C	T	13: 98,273,383	Q137*	probably null	Het
Arpc1a	C	T	5: 145,091,244	T21I	possibly damaging	Het
Arvcf	T	C	16: 18,396,954		probably benign	Het
Ash1l	C	A	3: 89,007,317	S1751R	probably benign	Het
Bsn	C	A	9: 108,112,137	G2139C	probably damaging	Het
Ccdc148	T	C	2: 58,827,617	E530G	probably benign	Het
Cct3	A	G	3: 88,318,465	D365G	probably benign	Het
Chd2	A	T	7: 73,484,534	S688R	probably damaging	Het
Crispld1	A	G	1: 17,752,988	T398A	possibly damaging	Het
Ctbp2	A	C	7: 132,990,059	V906G	possibly damaging	Het
Cwf19l1	A	T	19: 44,131,499	Y68N	probably damaging	Het
Dlc1	T	A	8: 36,937,721	M305L	probably benign	Het
Dnm1l	C	A	16: 16,324,019	G288C	probably damaging	Het
Fignl2	A	T	15: 101,054,248	I51N	probably damaging	Het
Flnb	A	G	14: 7,915,290	N1474D	possibly damaging	Het
Ghrhr	C	T	6: 55,380,864		probably benign	Het
Gm11639	T	C	11: 104,720,822	S497P	probably benign	Het
Hltf	G	A	3: 20,059,090	R9H	probably damaging	Het
Hps5	A	G	7: 46,777,042		probably benign	Het
Itpr3	T	C	17: 27,104,060		probably benign	Het
Kansl1l	A	G	1: 66,720,888	V911A	probably benign	Het
Kdm3b	C	T	18: 34,824,774	T1064I	probably benign	Het
Lrriq1	T	A	10: 103,063,418	Q1654L	probably benign	Het
Ltbp1	A	G	17: 75,359,409	T1366A	probably damaging	Het
Mroh1	A	G	15: 76,446,692		probably benign	Het
Mroh2a	GT	GTT	1: 88,256,166		probably null	Het
Napb	G	A	2: 148,698,923		probably benign	Het
Npc1	G	C	18: 12,208,367	P532A	probably benign	Het
Nrp2	G	T	1: 62,745,377	K228N	possibly damaging	Het
Olfr275	T	A	4: 52,825,503	Y35*	probably null	Het
Plekhg1	A	T	10: 3,940,504	K241*	probably null	Het
Poln	T	C	5: 34,077,088		probably benign	Het
Ppil1	A	T	17: 29,252,256	F92I	probably damaging	Het
Ppp1r9b	T	G	11: 95,001,220	F154V	probably damaging	Het
Ptchd3	T	G	11: 121,842,972	L896R	probably damaging	Het
Rev3l	A	G	10: 39,824,831	N1775D	possibly damaging	Het
Rusc2	T	C	4: 43,424,100		probably benign	Het
Selenbp2	T	C	3: 94,703,509	V294A	probably benign	Het
Slc25a48	T	C	13: 56,451,211	V118A	probably damaging	Het
Slc38a10	T	C	11: 120,134,853	D219G	probably damaging	Het
Slc38a2	C	T	15: 96,691,292		probably null	Het
Slc39a12	A	G	2: 14,435,678	E480G	probably benign	Het
Tab2	C	A	10: 7,919,677	R347L	probably damaging	Het
Tas2r123	T	C	6: 132,847,992	I284T	possibly damaging	Het
Trim67	T	C	8: 124,794,568	V223A	probably damaging	Het
Ugcg	A	G	4: 59,217,130	D218G	probably benign	Het
Vmn2r59	A	G	7: 42,046,301	L229S	probably damaging	Het
Zfp451	A	T	1: 33,777,625	L198I	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
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
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'- CACACCACAGCAGTTTTGGTTCTTC -3'
(R):5'- CAGAATCTCGCTTCTCAAACTCCCG -3'

Sequencing Primer
(F):5'- AGCTGGTCTCAAGACACTTC -3'
(R):5'- CAAACTCCCGGTCCTGC -3'

Posted On

2013-08-06