Mutagenetix > Incidental Mutations

Incidental Mutation 'R4502:Tnks1bp1'

331837

Institutional Source

Beutler Lab

Gene Symbol

Tnks1bp1

Ensembl Gene

ENSMUSG00000033955

Gene Name

tankyrase 1 binding protein 1

Synonyms

TAB182

MMRRC Submission

041754-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4502 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85048022-85073048 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 85062647 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 973 (R973*)

Ref Sequence

ENSEMBL: ENSMUSP00000107232 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000048400
AA Change: R311*

SMART Domains

Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: R311*

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 null
Transcript: ENSMUST00000111605
AA Change: R973*

SMART Domains

Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: R973*

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: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	A	C	3: 20,315,798	Y215D	probably damaging	Het
Arf5	T	C	6: 28,425,776	V123A	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Atm	A	G	9: 53,495,946	V1164A	possibly damaging	Het
Atp6v0d1	A	G	8: 105,565,798	C39R	probably damaging	Het
Bmp8a	T	A	4: 123,342,399	S104C	probably damaging	Het
Cand1	T	C	10: 119,216,667	T185A	probably benign	Het
Ccdc171	A	G	4: 83,864,323	E1284G	probably damaging	Het
Chodl	A	G	16: 78,931,444	S26G	possibly damaging	Het
Cic	C	T	7: 25,288,467	P620S	probably damaging	Het
Col3a1	T	C	1: 45,348,677		probably benign	Het
Dirc2	T	C	16: 35,719,417	M345V	probably benign	Het
Dpyd	G	T	3: 118,797,537	G225C	probably damaging	Het
Dst	G	A	1: 34,247,691	V5560M	probably damaging	Het
Eea1	G	A	10: 96,039,565	E1233K	probably benign	Het
Fryl	T	C	5: 73,088,397	D1139G	probably damaging	Het
Gpr39	G	A	1: 125,677,991	V219I	probably benign	Het
Hc	T	C	2: 35,006,252	D1173G	probably benign	Het
Htr2a	T	A	14: 74,641,988	M19K	probably benign	Het
Kank4	G	A	4: 98,777,098	S653L	possibly damaging	Het
Kcnt2	G	T	1: 140,507,747	C484F	probably damaging	Het
Kdm1b	C	T	13: 47,063,077	R308W	probably damaging	Het
Klhl1	A	G	14: 96,517,846	S158P	probably benign	Het
Ldb2	T	C	5: 44,669,407	D62G	probably damaging	Het
Ldhb	T	C	6: 142,490,457	K329E	possibly damaging	Het
Mtmr7	T	C	8: 40,558,162	E285G	possibly damaging	Het
Olfr1370	A	T	13: 21,072,746	I185N	probably damaging	Het
Olfr178	T	C	16: 58,890,176	I15V	probably benign	Het
Olfr303	T	A	7: 86,395,277	T74S	possibly damaging	Het
Pi4kb	T	A	3: 94,996,607	H501Q	probably benign	Het
Ppargc1b	T	C	18: 61,302,679	K910R	probably benign	Het
Ppp1r12a	G	T	10: 108,249,478	R428I	probably benign	Het
Rbbp8nl	G	T	2: 180,279,196	T465N	possibly damaging	Het
Rpl5	T	C	5: 107,904,857	F223S	possibly damaging	Het
Scpep1	T	C	11: 88,944,385	K154R	probably benign	Het
Sil1	T	C	18: 35,317,875	Y249C	probably benign	Het
Slc12a1	T	A	2: 125,226,044	L1017Q	probably damaging	Het
Slc2a9	T	C	5: 38,398,811	N264S	probably benign	Het
Tdrd5	T	A	1: 156,300,764	M141L	probably benign	Het
Tdrd9	T	C	12: 111,993,825	C182R	probably damaging	Het
Thap4	T	C	1: 93,750,987		probably null	Het
Tmem131	T	C	1: 36,825,479	T558A	probably benign	Het
Ulk3	A	G	9: 57,593,229	Y307C	probably damaging	Het
Usp25	T	C	16: 77,115,396	L1001P	probably damaging	Het
Vmn2r80	A	T	10: 79,148,930	T39S	probably benign	Het
Vps33b	G	A	7: 80,287,907	A468T	possibly damaging	Het
Wnt9a	T	C	11: 59,328,537	S130P	probably damaging	Het
Zfp236	T	C	18: 82,636,954	E730G	probably benign	Het
Zfp689	C	A	7: 127,448,753	V36L	probably benign	Het
Zfp938	A	G	10: 82,226,271	S172P	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	0.92
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
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
Z1176:Tnks1bp1	UTSW	2	85063530	missense	not run
Z1177:Tnks1bp1	UTSW	2	85059003	missense	not run

Predicted Primers

PCR Primer
(F):5'- AACTGGGGATGAAGAACCTCTC -3'
(R):5'- GCAGCTCCATCTCGAGAATGAG -3'

Sequencing Primer
(F):5'- GATGAAGAACCTCTCTCGTGGCTAC -3'
(R):5'- ATCTCGAGAATGAGGTGTGC -3'

Posted On

2015-07-21