Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2194 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84878366-84903392 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84893409 bp (GRCm39)

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]

AlphaFold

P58871

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: 16,773,505 (GRCm39)	T275A	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Fkbp5	T	C	17: 28,657,001 (GRCm39)	D72G	probably benign	Het
Gm8104	T	C	14: 42,959,017 (GRCm39)	M69T	possibly damaging	Het
Greb1	T	C	12: 16,740,909 (GRCm39)	E1391G	probably benign	Het
Hif1a	A	G	12: 73,977,521 (GRCm39)	N183S	probably damaging	Het
Hnrnpul1	A	G	7: 25,425,347 (GRCm39)		probably null	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Ighmbp2	T	C	19: 3,315,116 (GRCm39)	D768G	probably benign	Het
Kitl	T	G	10: 99,851,899 (GRCm39)		probably null	Het
Mfsd4b4	T	A	10: 39,768,919 (GRCm39)	N104I	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or2t49	T	C	11: 58,392,468 (GRCm39)	K305E	probably damaging	Het
Pcdhb4	T	C	18: 37,441,788 (GRCm39)	V366A	probably damaging	Het
Polb	C	T	8: 23,137,483 (GRCm39)	R89H	probably benign	Het
Rfc4	TTTGTTGTTGTTG	TTTGTTGTTG	16: 22,932,902 (GRCm39)		probably benign	Het
Rnf40	C	A	7: 127,196,407 (GRCm39)	A785D	probably damaging	Het
St7	A	G	6: 17,942,718 (GRCm39)	E494G	probably damaging	Het
Zfp607a	A	G	7: 27,578,805 (GRCm39)	E625G	possibly damaging	Het

Other mutations in Tnks1bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00870:Tnks1bp1	APN	2	84,892,580 (GRCm39)	nonsense	probably null
IGL00974:Tnks1bp1	APN	2	84,893,226 (GRCm39)	missense	possibly damaging	0.86
IGL01874:Tnks1bp1	APN	2	84,888,791 (GRCm39)	missense	probably benign	0.01
IGL02419:Tnks1bp1	APN	2	84,902,125 (GRCm39)	missense	possibly damaging	0.60
IGL02441:Tnks1bp1	APN	2	84,902,143 (GRCm39)	missense	probably damaging	1.00
IGL02475:Tnks1bp1	APN	2	84,889,721 (GRCm39)	missense	probably damaging	1.00
IGL03181:Tnks1bp1	APN	2	84,893,058 (GRCm39)	missense	probably benign	0.00
K3955:Tnks1bp1	UTSW	2	84,892,755 (GRCm39)	missense	probably benign	0.01
P0038:Tnks1bp1	UTSW	2	84,892,755 (GRCm39)	missense	probably benign	0.01
PIT4791001:Tnks1bp1	UTSW	2	84,892,902 (GRCm39)	missense	probably benign	0.03
R0068:Tnks1bp1	UTSW	2	84,892,696 (GRCm39)	missense	probably benign	0.12
R0068:Tnks1bp1	UTSW	2	84,892,696 (GRCm39)	missense	probably benign	0.12
R0164:Tnks1bp1	UTSW	2	84,889,565 (GRCm39)	missense	possibly damaging	0.94
R0164:Tnks1bp1	UTSW	2	84,889,565 (GRCm39)	missense	possibly damaging	0.94
R0189:Tnks1bp1	UTSW	2	84,901,273 (GRCm39)	missense	possibly damaging	0.77
R0454:Tnks1bp1	UTSW	2	84,902,481 (GRCm39)	missense	probably damaging	1.00
R0650:Tnks1bp1	UTSW	2	84,892,974 (GRCm39)	missense	possibly damaging	0.68
R0737:Tnks1bp1	UTSW	2	84,882,880 (GRCm39)	missense	possibly damaging	0.93
R1718:Tnks1bp1	UTSW	2	84,902,082 (GRCm39)	missense	probably benign	0.44
R1749:Tnks1bp1	UTSW	2	84,893,411 (GRCm39)	missense	probably benign
R2314:Tnks1bp1	UTSW	2	84,889,259 (GRCm39)	missense	probably benign	0.01
R2379:Tnks1bp1	UTSW	2	84,894,182 (GRCm39)	missense	probably benign	0.16
R3056:Tnks1bp1	UTSW	2	84,900,344 (GRCm39)	nonsense	probably null
R3433:Tnks1bp1	UTSW	2	84,901,360 (GRCm39)	splice site	probably benign
R3751:Tnks1bp1	UTSW	2	84,889,066 (GRCm39)	start gained	probably benign
R4502:Tnks1bp1	UTSW	2	84,892,991 (GRCm39)	nonsense	probably null
R4694:Tnks1bp1	UTSW	2	84,902,066 (GRCm39)	missense	probably damaging	1.00
R4785:Tnks1bp1	UTSW	2	84,893,378 (GRCm39)	missense	probably damaging	1.00
R5079:Tnks1bp1	UTSW	2	84,892,970 (GRCm39)	missense	probably damaging	1.00
R5208:Tnks1bp1	UTSW	2	84,900,976 (GRCm39)	missense	probably damaging	0.96
R5265:Tnks1bp1	UTSW	2	84,893,098 (GRCm39)	missense	probably benign	0.01
R5512:Tnks1bp1	UTSW	2	84,893,178 (GRCm39)	missense	probably benign	0.00
R5557:Tnks1bp1	UTSW	2	84,894,144 (GRCm39)	missense	probably damaging	0.97
R6016:Tnks1bp1	UTSW	2	84,882,734 (GRCm39)	missense	probably damaging	1.00
R6177:Tnks1bp1	UTSW	2	84,889,624 (GRCm39)	start gained	probably benign
R6516:Tnks1bp1	UTSW	2	84,901,071 (GRCm39)	missense	probably damaging	0.97
R6517:Tnks1bp1	UTSW	2	84,889,689 (GRCm39)	missense	probably benign	0.00
R7032:Tnks1bp1	UTSW	2	84,892,297 (GRCm39)	missense	probably benign	0.00
R7120:Tnks1bp1	UTSW	2	84,902,441 (GRCm39)	missense	probably damaging	1.00
R7302:Tnks1bp1	UTSW	2	84,882,698 (GRCm39)	missense	probably benign	0.24
R7393:Tnks1bp1	UTSW	2	84,893,210 (GRCm39)	missense	probably benign
R7535:Tnks1bp1	UTSW	2	84,893,624 (GRCm39)	nonsense	probably null
R7596:Tnks1bp1	UTSW	2	84,893,057 (GRCm39)	missense	probably benign	0.14
R7680:Tnks1bp1	UTSW	2	84,889,585 (GRCm39)	missense	probably benign	0.36
R8345:Tnks1bp1	UTSW	2	84,893,226 (GRCm39)	missense	possibly damaging	0.86
R8413:Tnks1bp1	UTSW	2	84,892,622 (GRCm39)	missense	probably damaging	1.00
R8768:Tnks1bp1	UTSW	2	84,900,980 (GRCm39)	nonsense	probably null
R8936:Tnks1bp1	UTSW	2	84,894,320 (GRCm39)	missense	probably benign	0.00
R8991:Tnks1bp1	UTSW	2	84,894,290 (GRCm39)	missense	probably benign	0.00
R9007:Tnks1bp1	UTSW	2	84,901,048 (GRCm39)	missense	probably damaging	1.00
R9118:Tnks1bp1	UTSW	2	84,893,720 (GRCm39)	missense	probably damaging	1.00
R9709:Tnks1bp1	UTSW	2	84,902,125 (GRCm39)	missense	probably benign	0.00
R9732:Tnks1bp1	UTSW	2	84,889,727 (GRCm39)	missense	probably damaging	1.00
Z1176:Tnks1bp1	UTSW	2	84,893,874 (GRCm39)	missense	probably damaging	0.99
Z1177:Tnks1bp1	UTSW	2	84,889,347 (GRCm39)	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