Mutagenetix > Incidental Mutation

Incidental Mutation 'R0465:Tnpo1'

41596

Institutional Source

Beutler Lab

Gene Symbol

Tnpo1

Ensembl Gene

ENSMUSG00000009470

Gene Name

transportin 1

Synonyms

D13Ertd688e, Kpnb2

MMRRC Submission

038665-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R0465 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98975527-99062892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99021142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 79 (I79T)

Ref Sequence

ENSEMBL: ENSMUSP00000105028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109399] [ENSMUST00000109401] [ENSMUST00000179271] [ENSMUST00000179301]

AlphaFold

Q8BFY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000109399
AA Change: I71T

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105026
Gene: ENSMUSG00000009470
AA Change: I71T

Domain	Start	End	E-Value	Type
IBN_N	33	101	1.53e-6	SMART
low complexity region	350	368	N/A	INTRINSIC
low complexity region	393	410	N/A	INTRINSIC
Pfam:HEAT_EZ	411	465	4.7e-12	PFAM
Pfam:HEAT	439	469	6.8e-5	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109401
AA Change: I79T

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105028
Gene: ENSMUSG00000009470
AA Change: I79T

Domain	Start	End	E-Value	Type
IBN_N	41	109	1.53e-6	SMART
low complexity region	358	376	N/A	INTRINSIC
low complexity region	401	418	N/A	INTRINSIC
Pfam:HEAT_EZ	419	473	6.6e-15	PFAM
Pfam:HEAT	447	477	1.3e-5	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179271
AA Change: I71T

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136496
Gene: ENSMUSG00000009470
AA Change: I71T

Domain	Start	End	E-Value	Type
IBN_N	33	101	1.53e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179301
AA Change: I71T

PolyPhen 2 Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136917
Gene: ENSMUSG00000009470
AA Change: I71T

Domain	Start	End	E-Value	Type
IBN_N	33	101	1.53e-6	SMART
low complexity region	350	368	N/A	INTRINSIC
low complexity region	393	410	N/A	INTRINSIC
Pfam:HEAT_EZ	411	465	4.2e-12	PFAM
Pfam:HEAT	439	469	6.1e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224022

Meta Mutation Damage Score

0.2111

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is a heterodimer of an alpha subunit which recognizes the nuclear localization signal and a beta subunit which docks the complex at nucleoporins. Alternate splicing of this gene results in two transcript variants encoding different proteins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	A	17: 56,092,137 (GRCm39)		probably benign	Het
Ankrd13a	T	A	5: 114,942,295 (GRCm39)	I526N	probably damaging	Het
Aox1	G	A	1: 58,101,366 (GRCm39)	V446I	probably damaging	Het
Arid1b	G	A	17: 5,046,535 (GRCm39)	G441D	possibly damaging	Het
Bdkrb2	A	T	12: 105,558,118 (GRCm39)	N120Y	possibly damaging	Het
Bud31	G	A	5: 145,083,396 (GRCm39)	V80I	probably damaging	Het
Camkmt	T	A	17: 85,738,950 (GRCm39)	F225L	probably damaging	Het
Carf	T	C	1: 60,171,142 (GRCm39)	M200T	probably damaging	Het
Carmil3	T	C	14: 55,737,318 (GRCm39)	L767P	probably damaging	Het
Cdk14	T	A	5: 5,143,019 (GRCm39)	R237S	probably damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Cfap65	G	A	1: 74,956,043 (GRCm39)	R1093C	possibly damaging	Het
Cnot8	T	A	11: 58,004,886 (GRCm39)	V195E	probably damaging	Het
Copa	T	C	1: 171,945,872 (GRCm39)	F936S	probably damaging	Het
Cstdc1	A	G	2: 148,625,345 (GRCm39)	N93S	probably benign	Het
Dnai1	T	A	4: 41,629,988 (GRCm39)		probably null	Het
Dsel	T	C	1: 111,789,992 (GRCm39)	N181S	probably benign	Het
Enpp7	A	G	11: 118,879,607 (GRCm39)	N87S	probably damaging	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gm12695	T	C	4: 96,673,312 (GRCm39)	Y29C	probably damaging	Het
Gm5592	T	A	7: 40,805,481 (GRCm39)		probably benign	Het
Gmnc	T	G	16: 26,781,702 (GRCm39)	N109T	probably damaging	Het
Gstcd	A	G	3: 132,688,905 (GRCm39)	I615T	probably benign	Het
Hal	A	C	10: 93,352,146 (GRCm39)	K646Q	probably benign	Het
Hbs1l	A	G	10: 21,227,940 (GRCm39)	I472V	probably null	Het
Ift27	A	T	15: 78,057,958 (GRCm39)		probably benign	Het
Iqub	A	T	6: 24,503,783 (GRCm39)	I163N	probably damaging	Het
Isg20l2	T	A	3: 87,838,987 (GRCm39)	V66E	probably benign	Het
Itgb4	T	C	11: 115,870,582 (GRCm39)	M137T	probably damaging	Het
Lca5	T	A	9: 83,277,920 (GRCm39)	K475*	probably null	Het
Lyve1	A	G	7: 110,452,034 (GRCm39)		probably null	Het
Map3k19	T	C	1: 127,766,264 (GRCm39)	D220G	probably damaging	Het
Mdn1	T	A	4: 32,699,204 (GRCm39)		probably benign	Het
Mmp15	T	C	8: 96,094,626 (GRCm39)	W167R	probably damaging	Het
Ms4a13	A	G	19: 11,149,957 (GRCm39)	C135R	probably benign	Het
Myh1	A	G	11: 67,101,243 (GRCm39)	H673R	possibly damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Oas2	A	G	5: 120,873,120 (GRCm39)	I645T	probably damaging	Het
Or52s6	A	T	7: 103,092,042 (GRCm39)	F96Y	possibly damaging	Het
Pard3b	T	G	1: 62,250,877 (GRCm39)		probably benign	Het
Patj	T	A	4: 98,423,744 (GRCm39)		probably null	Het
Pcare	A	G	17: 72,057,155 (GRCm39)	C841R	probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 110,350,295 (GRCm39)	S380N	probably benign	Het
Rab34	C	A	11: 78,081,337 (GRCm39)	C67*	probably null	Het
Rimbp3	T	C	16: 17,029,644 (GRCm39)	S1023P	possibly damaging	Het
Rnf148	T	C	6: 23,654,684 (GRCm39)	N104S	probably benign	Het
Rpa1	T	C	11: 75,203,921 (GRCm39)	T288A	probably damaging	Het
Scn9a	A	G	2: 66,357,340 (GRCm39)	L976P	probably damaging	Het
Serpina12	T	A	12: 104,004,104 (GRCm39)	D176V	probably benign	Het
Sik1	C	T	17: 32,073,996 (GRCm39)	V10I	possibly damaging	Het
Sntb1	C	A	15: 55,612,672 (GRCm39)	R302L	probably benign	Het
Stambp	A	G	6: 83,547,321 (GRCm39)	I56T	probably benign	Het
Tac2	A	G	10: 127,565,039 (GRCm39)		probably benign	Het
Tecta	A	T	9: 42,270,714 (GRCm39)	I1198K	possibly damaging	Het
Tfip11	C	T	5: 112,481,130 (GRCm39)	R369C	probably benign	Het
Ttll5	A	T	12: 85,980,100 (GRCm39)	N895Y	probably benign	Het
Ube2u	T	A	4: 100,389,293 (GRCm39)		probably benign	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Vmn2r1	T	C	3: 63,989,180 (GRCm39)	S40P	possibly damaging	Het
Vmn2r100	G	A	17: 19,751,792 (GRCm39)	V612I	probably damaging	Het
Vmn2r59	G	T	7: 41,696,332 (GRCm39)	H137N	probably benign	Het
Vsig10l	T	C	7: 43,116,866 (GRCm39)	V467A	probably damaging	Het
Vwde	A	G	6: 13,215,805 (GRCm39)		probably benign	Het
Xrra1	T	A	7: 99,528,578 (GRCm39)	D139E	probably benign	Het
Zc3h15	T	C	2: 83,494,159 (GRCm39)		probably benign	Het
Zfhx4	C	T	3: 5,310,716 (GRCm39)		probably benign	Het
Zscan18	A	G	7: 12,509,413 (GRCm39)		probably benign	Het

Other mutations in Tnpo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Tnpo1	APN	13	98,986,612 (GRCm39)	splice site	probably benign
IGL02572:Tnpo1	APN	13	98,985,667 (GRCm39)	missense	probably damaging	1.00
IGL03040:Tnpo1	APN	13	98,996,463 (GRCm39)	missense	probably damaging	0.99
IGL03237:Tnpo1	APN	13	99,000,348 (GRCm39)	missense	probably damaging	0.98
IGL03379:Tnpo1	APN	13	99,000,348 (GRCm39)	missense	probably damaging	0.98
IGL03393:Tnpo1	APN	13	99,024,981 (GRCm39)	missense	probably damaging	0.99
IGL03405:Tnpo1	APN	13	99,000,348 (GRCm39)	missense	probably damaging	0.98
IGL03407:Tnpo1	APN	13	99,000,348 (GRCm39)	missense	probably damaging	0.98
Domineight	UTSW	13	99,003,637 (GRCm39)	frame shift	probably null
invert	UTSW	13	98,991,954 (GRCm39)	missense	probably damaging	1.00
R0308:Tnpo1	UTSW	13	98,983,011 (GRCm39)	missense	probably damaging	0.97
R0492:Tnpo1	UTSW	13	98,991,954 (GRCm39)	missense	probably damaging	1.00
R0707:Tnpo1	UTSW	13	98,991,954 (GRCm39)	missense	probably damaging	1.00
R0732:Tnpo1	UTSW	13	99,000,320 (GRCm39)	missense	probably damaging	0.99
R1314:Tnpo1	UTSW	13	98,997,230 (GRCm39)	missense	probably damaging	0.99
R1449:Tnpo1	UTSW	13	99,015,220 (GRCm39)	missense	probably damaging	0.99
R1468:Tnpo1	UTSW	13	98,986,665 (GRCm39)	missense	probably benign	0.25
R1468:Tnpo1	UTSW	13	98,986,665 (GRCm39)	missense	probably benign	0.25
R1488:Tnpo1	UTSW	13	98,993,415 (GRCm39)	missense	probably damaging	0.98
R1961:Tnpo1	UTSW	13	98,989,440 (GRCm39)	missense	probably damaging	1.00
R3123:Tnpo1	UTSW	13	99,003,637 (GRCm39)	frame shift	probably null
R3124:Tnpo1	UTSW	13	99,003,637 (GRCm39)	frame shift	probably null
R4151:Tnpo1	UTSW	13	98,989,407 (GRCm39)	missense	probably damaging	1.00
R4272:Tnpo1	UTSW	13	99,003,637 (GRCm39)	frame shift	probably null
R4274:Tnpo1	UTSW	13	99,003,637 (GRCm39)	frame shift	probably null
R5154:Tnpo1	UTSW	13	99,006,813 (GRCm39)	missense	possibly damaging	0.84
R5763:Tnpo1	UTSW	13	98,996,445 (GRCm39)	missense	possibly damaging	0.54
R5765:Tnpo1	UTSW	13	98,996,349 (GRCm39)	missense	probably benign	0.08
R5827:Tnpo1	UTSW	13	98,993,416 (GRCm39)	missense	probably damaging	1.00
R6240:Tnpo1	UTSW	13	99,000,337 (GRCm39)	missense	probably damaging	1.00
R6279:Tnpo1	UTSW	13	99,027,216 (GRCm39)	missense	possibly damaging	0.90
R6294:Tnpo1	UTSW	13	99,027,282 (GRCm39)	missense	probably benign	0.03
R7055:Tnpo1	UTSW	13	98,991,987 (GRCm39)	missense	possibly damaging	0.85
R7509:Tnpo1	UTSW	13	99,006,751 (GRCm39)	missense	probably benign	0.00
R7707:Tnpo1	UTSW	13	99,027,295 (GRCm39)	missense	probably benign	0.00
R8314:Tnpo1	UTSW	13	99,021,133 (GRCm39)	missense	possibly damaging	0.87
R8730:Tnpo1	UTSW	13	98,989,916 (GRCm39)	missense	probably benign	0.00
R9488:Tnpo1	UTSW	13	98,990,003 (GRCm39)	missense	probably damaging	1.00
R9511:Tnpo1	UTSW	13	99,003,621 (GRCm39)	missense	possibly damaging	0.94
Z1088:Tnpo1	UTSW	13	98,997,178 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGCTATGCTGTCCATCCCAACTG -3'
(R):5'- AAAGTGGTCCTCTCTTTATCTTTGCTGG -3'

Sequencing Primer
(F):5'- TGTCCATCCCAACTGAAGTTAG -3'
(R):5'- tgagcagtgccctactcc -3'

Posted On

2013-05-23