Mutagenetix > Incidental Mutation

Incidental Mutation 'R5763:Tnpo1'

446141

Institutional Source

Beutler Lab

Gene Symbol

Tnpo1

Ensembl Gene

ENSMUSG00000009470

Gene Name

transportin 1

Synonyms

D13Ertd688e, Kpnb2

MMRRC Submission

043364-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R5763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98975527-99062892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 98996445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 452 (I452S)

Ref Sequence

ENSEMBL: ENSMUSP00000105028 (fasta)

Gene Model

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

AlphaFold

Q8BFY9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109399
AA Change: I444S

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105026
Gene: ENSMUSG00000009470
AA Change: I444S

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

possibly damaging
Transcript: ENSMUST00000109401
AA Change: I452S

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105028
Gene: ENSMUSG00000009470
AA Change: I452S

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

probably benign
Transcript: ENSMUST00000179301
AA Change: I444S

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136917
Gene: ENSMUSG00000009470
AA Change: I444S

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: ENSMUST00000224099

Meta Mutation Damage Score

0.5837

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (70/72)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,670,768 (GRCm39)	H330R	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Actl6b	T	A	5: 137,565,063 (GRCm39)	L314Q	possibly damaging	Het
Adam22	A	T	5: 8,184,544 (GRCm39)	C483S	probably damaging	Het
Adamts7	T	A	9: 90,070,462 (GRCm39)	L601H	probably damaging	Het
Agl	A	T	3: 116,547,009 (GRCm39)	D1280E	probably damaging	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,419,882 (GRCm39)		probably null	Het
Astn2	T	A	4: 65,647,568 (GRCm39)	M757L	probably benign	Het
Atr	A	G	9: 95,827,176 (GRCm39)	M2407V	probably benign	Het
Brca2	T	C	5: 150,471,471 (GRCm39)	F2283L	possibly damaging	Het
Brwd1	A	T	16: 95,835,043 (GRCm39)	Y940*	probably null	Het
Camk2g	A	T	14: 20,789,415 (GRCm39)	N218K	probably damaging	Het
Ces2a	C	T	8: 105,462,756 (GRCm39)	P115L	probably benign	Het
Col11a1	T	C	3: 113,888,245 (GRCm39)		probably benign	Het
Col1a2	T	A	6: 4,515,682 (GRCm39)	D150E	unknown	Het
Crybg3	A	G	16: 59,374,973 (GRCm39)	S2094P	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,298 (GRCm39)	N916D	probably benign	Het
Ddx24	A	G	12: 103,383,673 (GRCm39)	F593L	probably damaging	Het
Dhx16	G	A	17: 36,192,580 (GRCm39)	E171K	possibly damaging	Het
Dnah5	T	C	15: 28,311,298 (GRCm39)	I1759T	probably damaging	Het
Dnah9	C	A	11: 65,846,065 (GRCm39)	S2991I	probably damaging	Het
Entpd7	G	T	19: 43,692,705 (GRCm39)	V87L	probably damaging	Het
Fam221a	T	G	6: 49,355,518 (GRCm39)	L207V	probably damaging	Het
Foxm1	T	A	6: 128,343,071 (GRCm39)	I135N	probably benign	Het
Gabpa	C	A	16: 84,657,297 (GRCm39)	Q391K	possibly damaging	Het
Gipr	T	A	7: 18,897,475 (GRCm39)	H111L	probably damaging	Het
Gmip	A	G	8: 70,270,501 (GRCm39)	D737G	probably damaging	Het
Herc6	T	A	6: 57,639,872 (GRCm39)	N995K	probably damaging	Het
Ldha	G	A	7: 46,497,213 (GRCm39)		probably benign	Het
Lrrc37	G	A	11: 103,504,469 (GRCm39)	P324S	probably damaging	Het
Masp1	T	C	16: 23,314,997 (GRCm39)	E88G	probably damaging	Het
Mical2	G	A	7: 111,973,861 (GRCm39)		probably null	Het
Mill1	T	A	7: 17,979,587 (GRCm39)	V18E	probably benign	Het
Mrgpra3	A	T	7: 47,239,355 (GRCm39)	C190*	probably null	Het
Nog	C	T	11: 89,192,291 (GRCm39)	V186M	probably damaging	Het
Nrxn2	T	C	19: 6,581,369 (GRCm39)	F392L	probably benign	Het
Or11h7	T	C	14: 50,891,525 (GRCm39)	I277T	possibly damaging	Het
Or12j3	T	A	7: 139,953,568 (GRCm39)		probably null	Het
Or1e33	T	A	11: 73,738,693 (GRCm39)	Q86L	probably benign	Het
Or4a79	T	A	2: 89,552,372 (GRCm39)	M28L	probably benign	Het
Or7c74	T	C	2: 37,161,025 (GRCm39)		noncoding transcript	Het
Phyhd1	T	A	2: 30,169,983 (GRCm39)	D158E	probably damaging	Het
Pik3r4	G	T	9: 105,546,974 (GRCm39)	K917N	probably benign	Het
Pnma1	A	G	12: 84,194,124 (GRCm39)	V193A	possibly damaging	Het
Podxl2	T	C	6: 88,826,805 (GRCm39)	E167G	probably damaging	Het
Prss50	A	T	9: 110,691,517 (GRCm39)	K82*	probably null	Het
Qsox1	A	G	1: 155,655,625 (GRCm39)	S513P	probably benign	Het
Rheb	A	G	5: 25,012,785 (GRCm39)	V98A	probably benign	Het
Rhoj	A	G	12: 75,438,606 (GRCm39)	I131V	probably benign	Het
Rsph4a	A	T	10: 33,781,684 (GRCm39)	D178V	probably damaging	Het
Setd2	T	G	9: 110,385,343 (GRCm39)		probably null	Het
Siglecf	A	T	7: 43,005,744 (GRCm39)	K434*	probably null	Het
Slc14a1	T	C	18: 78,159,629 (GRCm39)	Y88C	probably benign	Het
Snx15	T	C	19: 6,172,140 (GRCm39)	E89G	probably damaging	Het
Son	C	T	16: 91,454,378 (GRCm39)	R1042C	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Suz12	C	A	11: 79,916,134 (GRCm39)	Y457*	probably null	Het
Tet1	T	A	10: 62,675,847 (GRCm39)	N743I	probably damaging	Het
Tmc6	A	G	11: 117,660,259 (GRCm39)	F660L	possibly damaging	Het
Trav4-3	G	T	14: 53,836,844 (GRCm39)	G103V	probably damaging	Het
Ubap2	T	C	4: 41,195,809 (GRCm39)	K994E	probably damaging	Het
Vmn2r14	T	C	5: 109,363,724 (GRCm39)	T731A	possibly damaging	Het
Vmn2r52	T	A	7: 9,905,231 (GRCm39)	I203L	probably benign	Het
Zfp663	G	T	2: 165,200,355 (GRCm39)	S75*	probably null	Het
Zik1	G	T	7: 10,226,293 (GRCm39)	H25N	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
R0465:Tnpo1	UTSW	13	99,021,142 (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
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'- TGCAAGCTGCTTCCTGTAC -3'
(R):5'- CTTAACCTCCTTTAAGACACCTAGG -3'

Sequencing Primer
(F):5'- ACTCTCTTGTTGCTATCGAGGATACG -3'
(R):5'- GACACCTAGGAACAATTAACTCTG -3'

Posted On

2016-11-21