Mutagenetix > Incidental Mutation

Incidental Mutation 'R4694:Tnks1bp1'

355534

Institutional Source

Beutler Lab

Gene Symbol

Tnks1bp1

Ensembl Gene

ENSMUSG00000033955

Gene Name

tankyrase 1 binding protein 1

Synonyms

TAB182

MMRRC Submission

041945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85048022-85073048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85071722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 992 (R992Q)

Ref Sequence

ENSEMBL: ENSMUSP00000045767 (fasta)

Gene Model

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

AlphaFold

P58871

Predicted Effect

probably damaging
Transcript: ENSMUST00000048400
AA Change: R992Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: R992Q

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: R1654Q

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

SMART Domains

Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: R1654Q

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: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,672,158 (GRCm38)	F258Y	probably damaging	Het
Adamtsl4	C	T	3: 95,679,745 (GRCm38)	R765H	probably damaging	Het
Bicd1	T	A	6: 149,409,553 (GRCm38)	L42Q	probably damaging	Het
Cacna1e	C	T	1: 154,437,266 (GRCm38)		probably null	Het
Capn1	T	A	19: 5,994,731 (GRCm38)	K504*	probably null	Het
Cdh15	G	A	8: 122,862,024 (GRCm38)	R279Q	probably damaging	Het
Cep350	T	C	1: 155,928,586 (GRCm38)	K917R	probably damaging	Het
Cp	A	T	3: 19,974,885 (GRCm38)	T509S	probably benign	Het
Cyp2d10	T	C	15: 82,404,483 (GRCm38)	D266G	probably damaging	Het
Dhodh	C	G	8: 109,606,416 (GRCm38)	R7P	probably damaging	Het
Dmxl2	A	G	9: 54,446,905 (GRCm38)	L419P	probably benign	Het
Epb41l4b	A	T	4: 57,019,875 (GRCm38)	M84K	probably benign	Het
Fbln7	A	G	2: 128,880,425 (GRCm38)		probably null	Het
Fbxw11	C	T	11: 32,642,820 (GRCm38)		probably benign	Het
Flnc	C	A	6: 29,443,448 (GRCm38)	P543T	probably damaging	Het
Gm13103	T	C	4: 143,852,960 (GRCm38)	S372P	probably damaging	Het
Grid1	T	C	14: 35,026,780 (GRCm38)	S186P	probably damaging	Het
Hcfc2	C	T	10: 82,723,700 (GRCm38)	T382M	probably damaging	Het
Hdac9	G	T	12: 34,437,247 (GRCm38)	L73I	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,464,183 (GRCm38)	D302E	probably damaging	Het
Ifi204	C	T	1: 173,749,259 (GRCm38)	C592Y	probably damaging	Het
Jph1	T	A	1: 16,997,505 (GRCm38)	I653F	probably damaging	Het
Kcnj3	A	G	2: 55,594,906 (GRCm38)	K339E	probably benign	Het
Kcp	G	A	6: 29,493,197 (GRCm38)	T838I	probably benign	Het
Krtap26-1	A	T	16: 88,647,220 (GRCm38)	V171E	possibly damaging	Het
Lck	G	T	4: 129,548,972 (GRCm38)	N452K	possibly damaging	Het
Madd	A	G	2: 91,160,328 (GRCm38)	L1134S	probably damaging	Het
Mafk	T	C	5: 139,800,493 (GRCm38)	S149P	probably damaging	Het
Man1c1	T	C	4: 134,703,189 (GRCm38)	D94G	probably benign	Het
Me2	T	A	18: 73,801,859 (GRCm38)	M38L	probably benign	Het
Muc2	A	C	7: 141,752,345 (GRCm38)	D257A	probably damaging	Het
Myh11	T	C	16: 14,200,702 (GRCm38)	K1927E	probably damaging	Het
Naaladl1	C	T	19: 6,108,890 (GRCm38)	P324S	probably damaging	Het
Ndufa10	T	C	1: 92,452,102 (GRCm38)	E303G	probably benign	Het
Nedd1	C	T	10: 92,719,582 (GRCm38)	V14I	probably benign	Het
Nwd1	T	G	8: 72,667,330 (GRCm38)	V407G	probably damaging	Het
Olfr1136	T	A	2: 87,693,760 (GRCm38)	T41S	probably benign	Het
Olfr132	A	C	17: 38,130,857 (GRCm38)	C112G	probably damaging	Het
Olfr32	T	A	2: 90,138,249 (GRCm38)	K297*	probably null	Het
Olfr726	T	C	14: 50,084,019 (GRCm38)	I221V	probably benign	Het
Olfr847	A	G	9: 19,375,398 (GRCm38)	L161P	probably damaging	Het
Pgrmc2	T	C	3: 41,070,405 (GRCm38)	D144G	probably damaging	Het
Ppp3cb	T	C	14: 20,501,515 (GRCm38)	N516S	probably benign	Het
Prelp	A	G	1: 133,914,747 (GRCm38)	M220T	probably damaging	Het
Prss36	A	G	7: 127,935,615 (GRCm38)	W465R	probably damaging	Het
Pth2r	C	A	1: 65,336,761 (GRCm38)	F59L	probably benign	Het
Rab20	C	T	8: 11,454,485 (GRCm38)	G72R	probably damaging	Het
Rab4a	G	T	8: 123,829,030 (GRCm38)	G49W	probably damaging	Het
Rad9a	G	A	19: 4,200,561 (GRCm38)	R85C	probably damaging	Het
Rhox2c	A	C	X: 37,453,698 (GRCm38)	Q4H	probably benign	Het
Rock1	A	T	18: 10,136,152 (GRCm38)	Y178*	probably null	Het
Scaf8	C	A	17: 3,197,404 (GRCm38)	L1001I	probably damaging	Het
Sema3b	G	A	9: 107,605,002 (GRCm38)	P26S	probably benign	Het
Slc23a1	A	G	18: 35,619,580 (GRCm38)	L548P	probably damaging	Het
Sncaip	A	C	18: 52,906,557 (GRCm38)	T548P	probably benign	Het
Stpg2	C	T	3: 139,317,416 (GRCm38)	P398S	possibly damaging	Het
Stpg3	A	C	2: 25,213,297 (GRCm38)	V260G	probably damaging	Het
Tbc1d9	T	A	8: 83,234,246 (GRCm38)	F242I	probably damaging	Het
Tom1l1	T	G	11: 90,646,849 (GRCm38)	H394P	possibly damaging	Het
Topors	T	G	4: 40,261,442 (GRCm38)	N614T	possibly damaging	Het
Trank1	A	T	9: 111,392,061 (GRCm38)	Q2622L	probably benign	Het
Trub2	A	G	2: 29,778,846 (GRCm38)	S186P	probably damaging	Het
Unc13c	T	A	9: 73,572,354 (GRCm38)	H1756L	probably benign	Het
Vmn1r9	A	T	6: 57,071,329 (GRCm38)	I130F	probably benign	Het
Wdr72	A	T	9: 74,179,555 (GRCm38)	I602F	probably damaging	Het
Zfand3	T	A	17: 30,135,388 (GRCm38)	F60I	possibly damaging	Het
Zfp946	G	A	17: 22,455,711 (GRCm38)	G482E	probably benign	Het

Other mutations in Tnks1bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00870:Tnks1bp1	APN	2	85,062,236 (GRCm38)	nonsense	probably null
IGL00974:Tnks1bp1	APN	2	85,062,882 (GRCm38)	missense	possibly damaging	0.86
IGL01874:Tnks1bp1	APN	2	85,058,447 (GRCm38)	missense	probably benign	0.01
IGL02419:Tnks1bp1	APN	2	85,071,781 (GRCm38)	missense	possibly damaging	0.60
IGL02441:Tnks1bp1	APN	2	85,071,799 (GRCm38)	missense	probably damaging	1.00
IGL02475:Tnks1bp1	APN	2	85,059,377 (GRCm38)	missense	probably damaging	1.00
IGL03181:Tnks1bp1	APN	2	85,062,714 (GRCm38)	missense	probably benign	0.00
K3955:Tnks1bp1	UTSW	2	85,062,411 (GRCm38)	missense	probably benign	0.01
P0038:Tnks1bp1	UTSW	2	85,062,411 (GRCm38)	missense	probably benign	0.01
PIT4791001:Tnks1bp1	UTSW	2	85,062,558 (GRCm38)	missense	probably benign	0.03
R0068:Tnks1bp1	UTSW	2	85,062,352 (GRCm38)	missense	probably benign	0.12
R0068:Tnks1bp1	UTSW	2	85,062,352 (GRCm38)	missense	probably benign	0.12
R0164:Tnks1bp1	UTSW	2	85,059,221 (GRCm38)	missense	possibly damaging	0.94
R0164:Tnks1bp1	UTSW	2	85,059,221 (GRCm38)	missense	possibly damaging	0.94
R0189:Tnks1bp1	UTSW	2	85,070,929 (GRCm38)	missense	possibly damaging	0.77
R0454:Tnks1bp1	UTSW	2	85,072,137 (GRCm38)	missense	probably damaging	1.00
R0650:Tnks1bp1	UTSW	2	85,062,630 (GRCm38)	missense	possibly damaging	0.68
R0737:Tnks1bp1	UTSW	2	85,052,536 (GRCm38)	missense	possibly damaging	0.93
R1718:Tnks1bp1	UTSW	2	85,071,738 (GRCm38)	missense	probably benign	0.44
R1749:Tnks1bp1	UTSW	2	85,063,067 (GRCm38)	missense	probably benign
R2194:Tnks1bp1	UTSW	2	85,063,065 (GRCm38)	missense	probably benign	0.06
R2314:Tnks1bp1	UTSW	2	85,058,915 (GRCm38)	missense	probably benign	0.01
R2379:Tnks1bp1	UTSW	2	85,063,838 (GRCm38)	missense	probably benign	0.16
R3056:Tnks1bp1	UTSW	2	85,070,000 (GRCm38)	nonsense	probably null
R3433:Tnks1bp1	UTSW	2	85,071,016 (GRCm38)	splice site	probably benign
R3751:Tnks1bp1	UTSW	2	85,058,722 (GRCm38)	start gained	probably benign
R4502:Tnks1bp1	UTSW	2	85,062,647 (GRCm38)	nonsense	probably null
R4785:Tnks1bp1	UTSW	2	85,063,034 (GRCm38)	missense	probably damaging	1.00
R5079:Tnks1bp1	UTSW	2	85,062,626 (GRCm38)	missense	probably damaging	1.00
R5208:Tnks1bp1	UTSW	2	85,070,632 (GRCm38)	missense	probably damaging	0.96
R5265:Tnks1bp1	UTSW	2	85,062,754 (GRCm38)	missense	probably benign	0.01
R5512:Tnks1bp1	UTSW	2	85,062,834 (GRCm38)	missense	probably benign	0.00
R5557:Tnks1bp1	UTSW	2	85,063,800 (GRCm38)	missense	probably damaging	0.97
R6016:Tnks1bp1	UTSW	2	85,052,390 (GRCm38)	missense	probably damaging	1.00
R6177:Tnks1bp1	UTSW	2	85,059,280 (GRCm38)	start gained	probably benign
R6516:Tnks1bp1	UTSW	2	85,070,727 (GRCm38)	missense	probably damaging	0.97
R6517:Tnks1bp1	UTSW	2	85,059,345 (GRCm38)	missense	probably benign	0.00
R7032:Tnks1bp1	UTSW	2	85,061,953 (GRCm38)	missense	probably benign	0.00
R7120:Tnks1bp1	UTSW	2	85,072,097 (GRCm38)	missense	probably damaging	1.00
R7302:Tnks1bp1	UTSW	2	85,052,354 (GRCm38)	missense	probably benign	0.24
R7393:Tnks1bp1	UTSW	2	85,062,866 (GRCm38)	missense	probably benign
R7535:Tnks1bp1	UTSW	2	85,063,280 (GRCm38)	nonsense	probably null
R7596:Tnks1bp1	UTSW	2	85,062,713 (GRCm38)	missense	probably benign	0.14
R7680:Tnks1bp1	UTSW	2	85,059,241 (GRCm38)	missense	probably benign	0.36
R8345:Tnks1bp1	UTSW	2	85,062,882 (GRCm38)	missense	possibly damaging	0.86
R8413:Tnks1bp1	UTSW	2	85,062,278 (GRCm38)	missense	probably damaging	1.00
R8768:Tnks1bp1	UTSW	2	85,070,636 (GRCm38)	nonsense	probably null
R8936:Tnks1bp1	UTSW	2	85,063,976 (GRCm38)	missense	probably benign	0.00
R8991:Tnks1bp1	UTSW	2	85,063,946 (GRCm38)	missense	probably benign	0.00
R9007:Tnks1bp1	UTSW	2	85,070,704 (GRCm38)	missense	probably damaging	1.00
R9118:Tnks1bp1	UTSW	2	85,063,376 (GRCm38)	missense	probably damaging	1.00
R9709:Tnks1bp1	UTSW	2	85,071,781 (GRCm38)	missense	probably benign	0.00
R9732:Tnks1bp1	UTSW	2	85,059,383 (GRCm38)	missense	probably damaging	1.00
Z1176:Tnks1bp1	UTSW	2	85,063,530 (GRCm38)	missense	probably damaging	0.99
Z1177:Tnks1bp1	UTSW	2	85,059,003 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGAGAAGTCACCCCTCTTTG -3'
(R):5'- TTCTGAGGATAATACCCGAACCAC -3'

Sequencing Primer
(F):5'- GAGAAGTCACCCCTCTTTGTTCAG -3'
(R):5'- TAATGTAAGGGGCTTCCC -3'

Posted On

2015-10-21