Mutagenetix > Incidental Mutation

Incidental Mutation 'R0737:Tnks1bp1'

70499

Institutional Source

Beutler Lab

Gene Symbol

Tnks1bp1

Ensembl Gene

ENSMUSG00000033955

Gene Name

tankyrase 1 binding protein 1

Synonyms

TAB182

MMRRC Submission

038918-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0737 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85048022-85073048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85052536 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 236 (S236G)

Ref Sequence

ENSEMBL: ENSMUSP00000107232 (fasta)

Gene Model

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

AlphaFold

P58871

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111605
AA Change: S236G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: S236G

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: ENSMUST00000139915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151092

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	T	A	X: 70,394,207		probably benign	Het
4932429P05Rik	A	G	X: 89,754,320	H586R	probably benign	Het
9130409I23Rik	G	A	1: 181,055,379	M235I	probably benign	Het
Aff4	T	A	11: 53,410,953	L1043*	probably null	Het
Ankrd11	G	T	8: 122,895,836	R426S	probably damaging	Het
Atm	T	A	9: 53,456,566	N2422I	probably damaging	Het
Bahcc1	C	A	11: 120,272,841	P655Q	probably damaging	Het
Baz2a	A	G	10: 128,116,080	I556V	possibly damaging	Het
BC017643	C	T	11: 121,227,242		probably null	Het
Ccdc33	T	C	9: 58,082,048	D114G	probably damaging	Het
Cdk5rap2	T	C	4: 70,337,375	H424R	probably benign	Het
Cfap57	T	C	4: 118,581,102	E864G	possibly damaging	Het
Cit	T	A	5: 115,946,919	S836R	probably damaging	Het
Clip4	C	T	17: 71,837,699	Q95*	probably null	Het
Col17a1	C	T	19: 47,669,433	G433S	possibly damaging	Het
Col6a3	A	G	1: 90,828,298	F90L	probably damaging	Het
Dnah9	T	C	11: 66,107,898	H1108R	probably damaging	Het
Elac1	A	T	18: 73,739,039	M295K	probably damaging	Het
Epas1	G	T	17: 86,829,456	G816C	possibly damaging	Het
Ermap	C	A	4: 119,178,510	C427F	probably damaging	Het
Fbxo44	T	C	4: 148,158,809		probably benign	Het
Fmo4	T	A	1: 162,808,392	K14*	probably null	Het
Gadl1	G	A	9: 116,073,987	M461I	probably damaging	Het
Garnl3	T	A	2: 32,990,642	I868F	probably damaging	Het
Gm6614	G	T	6: 142,003,428	A74E	possibly damaging	Het
Gm7168	A	G	17: 13,948,983	D204G	probably damaging	Het
Hs6st3	T	C	14: 119,869,383	F401S	possibly damaging	Het
Kcnmb1	A	T	11: 33,964,701	M1L	probably benign	Het
Krt35	T	C	11: 100,093,794	T292A	probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lamb2	T	A	9: 108,483,794	W572R	probably benign	Het
Letmd1	A	G	15: 100,469,821	T87A	probably damaging	Het
Lrp2	A	G	2: 69,448,169	Y3947H	probably damaging	Het
Mocos	T	C	18: 24,688,987	F685L	probably damaging	Het
Nsun6	A	T	2: 14,996,474	F424I	probably damaging	Het
Nup88	A	G	11: 70,969,950	M1T	probably null	Het
Olfr1209	T	C	2: 88,910,273	N40S	probably damaging	Het
Olfr1339	C	T	4: 118,735,224	R232C	probably benign	Het
Olfr297	C	T	7: 86,526,987	P77S	probably damaging	Het
Pcdhb12	T	A	18: 37,437,709	V636D	probably damaging	Het
Pclo	C	A	5: 14,515,439	A73E	probably damaging	Het
Pdlim7	A	T	13: 55,504,880		probably null	Het
Phldb1	G	A	9: 44,699,636	P67S	possibly damaging	Het
Ppp2r2b	T	C	18: 43,059,192	T17A	probably benign	Het
Rab11fip4	T	C	11: 79,683,502	V241A	probably benign	Het
Slc41a1	T	C	1: 131,840,952	L216P	probably damaging	Het
Smg6	T	A	11: 75,159,836	D1352E	probably damaging	Het
Tbc1d9	A	T	8: 83,259,313	I816F	probably damaging	Het
Tex264	T	C	9: 106,659,299	T220A	probably benign	Het
Tmco6	G	A	18: 36,741,776	V439I	probably damaging	Het
Tmem64	A	G	4: 15,266,717	I256V	probably damaging	Het
Tsc1	A	G	2: 28,670,930	T267A	possibly damaging	Het
Txndc2	A	G	17: 65,639,553		probably null	Het
Vmn2r94	G	A	17: 18,277,433	Q26*	probably null	Het
Zan	T	C	5: 137,389,249	D4900G	unknown	Het
Zkscan3	T	C	13: 21,388,596	T122A	probably benign	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
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'- AGACGTTACCCAAGAGTCTGGGAAG -3'
(R):5'- ACTCCACCATTTGCTACAGAGATGC -3'

Sequencing Primer
(F):5'- CCACGGAAAGAGATCCTGGC -3'
(R):5'- CATTTGCTACAGAGATGCTCTGG -3'

Posted On

2013-09-30