Mutagenetix > Incidental Mutations

Incidental Mutation 'R2194:Tnks1bp1'

238285

Institutional Source

Beutler Lab

Gene Symbol

Tnks1bp1

Ensembl Gene

ENSMUSG00000033955

Gene Name

tankyrase 1 binding protein 1

Synonyms

TAB182

MMRRC Submission

040196-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2194 (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 85063065 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1112 (E1112G)

Ref Sequence

ENSEMBL: ENSMUSP00000107232 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048400
AA Change: E450G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: E450G

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: E1112G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: E1112G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdh2	T	C	18: 16,640,448	T275A	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Fkbp5	T	C	17: 28,438,027	D72G	probably benign	Het
Gm8104	T	C	14: 43,101,560	M69T	possibly damaging	Het
Greb1	T	C	12: 16,690,908	E1391G	probably benign	Het
Hif1a	A	G	12: 73,930,747	N183S	probably damaging	Het
Hnrnpul1	A	G	7: 25,725,922		probably null	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Ighmbp2	T	C	19: 3,265,116	D768G	probably benign	Het
Kitl	T	G	10: 100,016,037		probably null	Het
Mfsd4b4	T	A	10: 39,892,923	N104I	probably damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr331	T	C	11: 58,501,642	K305E	probably damaging	Het
Pcdhb4	T	C	18: 37,308,735	V366A	probably damaging	Het
Polb	C	T	8: 22,647,467	R89H	probably benign	Het
Rfc4	TTTGTTGTTGTTG	TTTGTTGTTG	16: 23,114,152		probably benign	Het
Rnf40	C	A	7: 127,597,235	A785D	probably damaging	Het
St7	A	G	6: 17,942,719	E494G	probably damaging	Het
Zfp607a	A	G	7: 27,879,380	E625G	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
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
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
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'- AGCTGGCAAGATGGTGACTC -3'
(R):5'- TTGGGCCTTCAGAACTCAC -3'

Sequencing Primer
(F):5'- CCAGGAGATCACAAGGCTGC -3'
(R):5'- GCCTTCAGAACTCACACAGCTAG -3'

Posted On

2014-10-02