Mutagenetix > Incidental Mutation

Incidental Mutation 'R9118:Tnks1bp1'

692632

Institutional Source

Beutler Lab

Gene Symbol

Tnks1bp1

Ensembl Gene

ENSMUSG00000033955

Gene Name

tankyrase 1 binding protein 1

Synonyms

TAB182

MMRRC Submission

068921-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9118 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84878366-84903392 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84893720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 1216 (G1216W)

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: G554W

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

SMART Domains

Protein: ENSMUSP00000045767
Gene: ENSMUSG00000033955
AA Change: G554W

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: G1216W

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

SMART Domains

Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955
AA Change: G1216W

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: 99.7%
20x: 99.0%

Validation Efficiency

97% (31/32)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	A	T	9: 118,985,957 (GRCm39)	S36T	probably benign	Het
Aifm2	C	T	10: 61,561,681 (GRCm39)	T9I	probably benign	Het
Ano5	T	A	7: 51,220,122 (GRCm39)	F421I	probably damaging	Het
Cacna1a	G	A	8: 85,262,715 (GRCm39)	V372M	probably damaging	Het
Col6a5	A	T	9: 105,755,853 (GRCm39)		probably benign	Het
Colgalt2	A	G	1: 152,378,906 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,879,925 (GRCm39)	D421G	possibly damaging	Het
Dgat1	A	T	15: 76,386,718 (GRCm39)	W440R	probably damaging	Het
Dnah5	TGTCCGACTACAACATCGAGACGGCCAAGCGCGTC	TGTC	15: 28,401,994 (GRCm39)		probably null	Het
Dnai7	A	G	6: 145,120,900 (GRCm39)	Y691H	probably damaging	Het
Dnai7	A	G	6: 145,120,971 (GRCm39)	L667P	probably damaging	Het
Eif4h	C	A	5: 134,656,481 (GRCm39)	V70L	probably benign	Het
Gabrd	C	A	4: 155,470,475 (GRCm39)	V326L	possibly damaging	Het
Krt1c	C	T	15: 101,722,976 (GRCm39)	E341K	probably damaging	Het
Lrp4	C	T	2: 91,308,927 (GRCm39)	A538V	possibly damaging	Het
Mfap3l	G	A	8: 61,109,716 (GRCm39)	V31M	probably damaging	Het
Mroh2b	T	C	15: 4,991,573 (GRCm39)	I1557T	possibly damaging	Het
Or2y16	A	T	11: 49,335,409 (GRCm39)	I244F	probably benign	Het
Or5an11	T	C	19: 12,246,263 (GRCm39)	V223A	probably benign	Het
Pcyt2	G	A	11: 120,503,899 (GRCm39)	P183L		Het
Rapsn	A	G	2: 90,875,378 (GRCm39)	H387R	probably damaging	Het
Scaf11	G	A	15: 96,319,886 (GRCm39)	A259V	probably benign	Het
Septin9	A	G	11: 117,157,398 (GRCm39)	D11G	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc7a2	T	A	8: 41,351,994 (GRCm39)	I19N	possibly damaging	Het
Synpr	T	C	14: 13,608,673 (GRCm38)	V171A	probably damaging	Het
Tmed7	T	C	18: 46,726,338 (GRCm39)	N139S	probably benign	Het
Ush2a	T	A	1: 188,386,839 (GRCm39)	V2338E	probably damaging	Het
Vmn1r152	A	T	7: 22,222,992 (GRCm39)	I201F		Het
Vmn2r106	C	A	17: 20,505,667 (GRCm39)	W9L	probably benign	Het
Vmn2r9	A	G	5: 108,990,937 (GRCm39)	V808A	probably damaging	Het
Zfp646	A	G	7: 127,480,810 (GRCm39)	T996A		Het
Zng1	T	C	19: 24,920,048 (GRCm39)	R190G	probably 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
R2194:Tnks1bp1	UTSW	2	84,893,409 (GRCm39)	missense	probably benign	0.06
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
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'- AGGTCTCAGGAACTTGGAGG -3'
(R):5'- AGATCGTCACCCCAGTCTAC -3'

Sequencing Primer
(F):5'- CTCAGGAACTTGGAGGTGTCTAGC -3'
(R):5'- AGATCAGGTGTCCAATCTGC -3'

Posted On

2021-12-30