Mutagenetix > Incidental Mutation

Incidental Mutation 'R8413:Tnks1bp1'

652770

Institutional Source

Beutler Lab

Gene Symbol

Tnks1bp1

Ensembl Gene

ENSMUSG00000033955

Gene Name

tankyrase 1 binding protein 1

Synonyms

TAB182

MMRRC Submission

067767-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8413 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85048022-85073048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85062278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 850 (S850P)

Ref Sequence

ENSEMBL: ENSMUSP00000107232 (fasta)

Gene Model

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

AlphaFold

P58871

Predicted Effect

probably damaging
Transcript: ENSMUST00000048400
AA Change: S188P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: S188P

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: S850P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: S850P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,423,900	D86E	probably benign	Het
Adamts5	A	G	16: 85,866,618		probably null	Het
Arhgap31	T	C	16: 38,602,921	R928G	possibly damaging	Het
Birc6	T	C	17: 74,546,393	V164A	possibly damaging	Het
Cdh26	T	A	2: 178,468,229	H438Q	probably damaging	Het
Cfap65	T	A	1: 74,917,169	K1084*	probably null	Het
Csmd1	T	C	8: 15,900,676	H3511R	probably damaging	Het
Ebf1	T	A	11: 44,643,447	S178T	possibly damaging	Het
Eln	A	G	5: 134,726,521	V226A	unknown	Het
Fat4	A	T	3: 39,008,979		probably null	Het
Gcn1l1	C	T	5: 115,579,639	T222I	probably benign	Het
Gm11639	A	C	11: 104,920,309	K3192N	unknown	Het
Gm5624	T	G	14: 44,561,890	N70T		Het
Gpc6	T	A	14: 117,892,349	V387E	possibly damaging	Het
Gyg	C	T	3: 20,125,455	V255M	probably damaging	Het
Henmt1	T	A	3: 108,957,649	F146I	probably damaging	Het
Itpr3	T	A	17: 27,111,926	L1736Q	probably damaging	Het
Kcnh4	A	G	11: 100,749,793	V469A	possibly damaging	Het
Mybpc2	A	G	7: 44,508,305	L750P	probably damaging	Het
Naalad2	A	G	9: 18,330,643	V655A	probably damaging	Het
Nme8	C	T	13: 19,674,519	D289N	probably benign	Het
Olfr1109	T	C	2: 87,093,158	K80E	probably benign	Het
Olfr1199	T	A	2: 88,756,680		probably benign	Het
Olfr358	T	G	2: 37,005,390	T75P	probably damaging	Het
Olfr720	A	G	14: 14,175,416	V222A	probably benign	Het
Olfr727	C	G	14: 50,127,370	S264R	probably benign	Het
Olfr948	T	A	9: 39,319,105	K170*	probably null	Het
Phf24	T	A	4: 42,937,906	C173*	probably null	Het
Plcb2	A	G	2: 118,718,823	F353L	probably damaging	Het
Prss33	C	A	17: 23,833,956	W248L	probably damaging	Het
Rgs3	T	G	4: 62,626,017	L350R	possibly damaging	Het
Samd11	C	T	4: 156,249,273	G200D	probably damaging	Het
Sh3tc2	G	C	18: 62,015,071	G1284A	probably benign	Het
Sh3tc2	T	A	18: 61,990,802	V878E	probably damaging	Het
Skint5	A	G	4: 113,715,703	S780P	unknown	Het
Slc8a3	T	C	12: 81,314,678	K456E	probably damaging	Het
Smok2a	T	A	17: 13,225,612	H25Q	probably benign	Het
Srrt	A	G	5: 137,300,327	L225P	possibly damaging	Het
Stox1	C	T	10: 62,664,975	R602Q	probably damaging	Het
Tmem30a	A	T	9: 79,776,225	C157S	probably damaging	Het
Trpm6	A	G	19: 18,832,485	I1082V	probably benign	Het
Ttll5	T	A	12: 85,919,121	N646K	probably benign	Het
Vmn1r179	A	T	7: 23,928,852	Y156F	probably benign	Het
Vmn1r54	T	A	6: 90,269,431	L109H	probably damaging	Het
Wdr17	T	C	8: 54,662,918	I617V	probably benign	Het
Zeb2	T	A	2: 44,996,171	Q958L	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
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
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'- TCAGAACTATAGCCTCGGGG -3'
(R):5'- AGCCACGAGAGAGGTTCTTC -3'

Sequencing Primer
(F):5'- CCGTTGGAGACACAGGTC -3'
(R):5'- ACGAGAGAGGTTCTTCATCCC -3'

Posted On

2020-10-20