Mutagenetix > Incidental Mutations

Incidental Mutation 'R6516:Tnks1bp1'

520658

Institutional Source

Beutler Lab

Gene Symbol

Tnks1bp1

Ensembl Gene

ENSMUSG00000033955

Gene Name

tankyrase 1 binding protein 1

Synonyms

TAB182

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6516 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85048022-85073048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85070727 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1593 (S1593P)

Ref Sequence

ENSEMBL: ENSMUSP00000107232 (fasta)

Gene Model

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

AlphaFold

P58871

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048400
AA Change: S931P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: S931P

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 damaging
Transcript: ENSMUST00000111605
AA Change: S1593P

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

SMART Domains

Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: S1593P

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: ENSMUST00000135659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151092

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	A	T	1: 161,952,666	V93E	probably benign	Het
Adam18	A	G	8: 24,674,687	L4P	probably damaging	Het
Adcy8	A	T	15: 64,699,387	Y1136N	probably damaging	Het
Adgrl3	A	G	5: 81,465,272	Y184C	probably damaging	Het
Ankrd6	G	A	4: 32,836,427	R43W	probably damaging	Het
Ano8	G	T	8: 71,481,780		probably null	Het
Arhgap31	A	G	16: 38,609,404	F370L	possibly damaging	Het
C7	A	G	15: 5,057,081	V26A	probably damaging	Het
Clec4a2	C	A	6: 123,139,406	Q153K	probably damaging	Het
Cyp2c67	T	A	19: 39,617,429	D341V	probably damaging	Het
Ddo	T	A	10: 40,631,745	V46E	probably damaging	Het
Deup1	A	C	9: 15,610,614	M85R	probably damaging	Het
Dmxl2	A	T	9: 54,416,676	S1141R	probably damaging	Het
Dnah2	A	G	11: 69,465,386	F2147L	probably benign	Het
Dock10	T	C	1: 80,540,461	E1298G	probably damaging	Het
Dock4	T	A	12: 40,731,899	V701E	possibly damaging	Het
Dthd1	A	T	5: 62,839,264	K447N	probably benign	Het
Eno2	G	T	6: 124,761,709		probably null	Het
Fastkd5	T	A	2: 130,614,301	T790S	possibly damaging	Het
Fer1l4	C	T	2: 156,035,199	V1139M	probably damaging	Het
Gm10020	A	G	15: 52,477,804		noncoding transcript	Het
Gpbp1	A	T	13: 111,453,102	H111Q	probably benign	Het
Grk3	A	T	5: 112,961,549		probably benign	Het
Itpr3	C	T	17: 27,091,370	A403V	probably benign	Het
Kcnc2	A	G	10: 112,462,000	T610A	probably benign	Het
Kcnh1	T	A	1: 192,418,781	D560E	possibly damaging	Het
Klc4	A	T	17: 46,642,255	N116K	probably damaging	Het
Krba1	C	T	6: 48,413,272	Q656*	probably null	Het
Mchr1	A	G	15: 81,237,868	Y273C	probably damaging	Het
Myh15	T	A	16: 49,137,633	C938S	probably benign	Het
Nutm1	T	C	2: 112,251,217	E367G	probably damaging	Het
Odf3	G	A	7: 140,848,805	G128S	probably damaging	Het
Olfr1143	A	T	2: 87,802,770	Y127F	possibly damaging	Het
Olfr1509	A	T	14: 52,451,129	T239S	probably damaging	Het
Olfr519	A	T	7: 108,893,765	I214K	probably damaging	Het
Olfr912	A	G	9: 38,581,472	N65S	probably damaging	Het
Pikfyve	G	T	1: 65,265,781	M1697I	probably benign	Het
Plcd1	A	G	9: 119,076,203	S147P	probably damaging	Het
Plin3	G	A	17: 56,286,223	P113L	probably damaging	Het
Pum3	C	A	19: 27,426,008	S31I	probably benign	Het
Robo1	T	C	16: 73,024,353	V1327A	probably benign	Het
Rpl34	G	A	3: 130,729,067	P50L	probably benign	Het
Scnn1b	T	C	7: 121,912,112	S341P	probably damaging	Het
Sh3bp5	A	T	14: 31,375,672	M362K	possibly damaging	Het
Slc24a5	A	G	2: 125,088,107	T443A	probably benign	Het
Slc25a12	T	C	2: 71,324,083	Y81C	probably damaging	Het
Slc43a3	A	G	2: 84,957,761	T496A	probably benign	Het
Smap2	C	T	4: 120,983,106		probably null	Het
Sptbn5	T	A	2: 120,047,950		probably benign	Het
Taar5	A	G	10: 23,971,666	S321G	possibly damaging	Het
Tbx21	T	C	11: 97,099,956	I299V	possibly damaging	Het
Tcerg1	T	C	18: 42,530,892		probably null	Het
Tenm3	G	C	8: 48,417,222	Q179E	probably benign	Het
Tmem176a	T	G	6: 48,844,068		probably null	Het
Tmem236	T	C	2: 14,195,980	S119P	probably benign	Het
Tmprss11a	C	T	5: 86,420,128	V247M	probably damaging	Het
Ttc9b	T	A	7: 27,655,987	D227E	probably benign	Het
Usp33	A	C	3: 152,373,416	Q435P	probably benign	Het
Vti1a	C	T	19: 55,380,958	A94V	probably damaging	Het
Wdr3	A	G	3: 100,145,676	Y587H	probably damaging	Het
Wwc1	G	A	11: 35,867,302	A739V	probably benign	Het
Zfp628	C	G	7: 4,920,202	Y474*	probably null	Het
Zfp820	A	T	17: 21,819,373	C325S	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
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
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
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'- AGCCATCAATCAGCTCCTG -3'
(R):5'- TGAGGCTCCTCTACAACCTC -3'

Sequencing Primer
(F):5'- CAATCAGCTCCTGGTTTATGTTGAG -3'
(R):5'- CTCTACAACCTCCTCATCTGAAG -3'

Posted On

2018-06-06