Mutagenetix > Incidental Mutation

Incidental Mutation 'R0707:Tnpo1'

218359

Institutional Source

Beutler Lab

Gene Symbol

Tnpo1

Ensembl Gene

ENSMUSG00000009470

Gene Name

transportin 1

Synonyms

D13Ertd688e, Kpnb2

MMRRC Submission

038890-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R0707 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

98975527-99062892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98991954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 641 (Y641H)

Ref Sequence

ENSEMBL: ENSMUSP00000105028 (fasta)

Gene Model

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

AlphaFold

Q8BFY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000109399
AA Change: Y633H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105026
Gene: ENSMUSG00000009470
AA Change: Y633H

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: Y641H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105028
Gene: ENSMUSG00000009470
AA Change: Y641H

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 damaging
Transcript: ENSMUST00000179301
AA Change: Y633H

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136917
Gene: ENSMUSG00000009470
AA Change: Y633H

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

0.0966

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (74/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	G	4: 106,617,329 (GRCm39)	F259S	probably damaging	Het
Aldh16a1	T	A	7: 44,793,931 (GRCm39)		probably benign	Het
Ankrd24	A	T	10: 81,478,547 (GRCm39)		probably benign	Het
Arhgap5	T	C	12: 52,564,951 (GRCm39)	S641P	probably damaging	Het
Arpp21	A	C	9: 111,986,824 (GRCm39)	S242R	probably benign	Het
Bpifb5	A	G	2: 154,070,820 (GRCm39)	T204A	probably benign	Het
Bud31	A	G	5: 145,083,265 (GRCm39)	Y77C	probably damaging	Het
Ccdc65	G	A	15: 98,607,095 (GRCm39)	V101I	possibly damaging	Het
Ccr7	T	A	11: 99,036,809 (GRCm39)	T38S	probably damaging	Het
Cdc14a	T	C	3: 116,087,362 (GRCm39)		probably benign	Het
Ces2f	C	T	8: 105,677,618 (GRCm39)	H208Y	possibly damaging	Het
Chst1	C	A	2: 92,443,964 (GRCm39)	N145K	possibly damaging	Het
Clock	A	G	5: 76,374,976 (GRCm39)	V731A	possibly damaging	Het
Cog6	C	T	3: 52,921,283 (GRCm39)	V108I	possibly damaging	Het
Cplane1	T	A	15: 8,287,805 (GRCm39)	N2881K	unknown	Het
Crtc2	T	A	3: 90,170,804 (GRCm39)	F626I	probably damaging	Het
Dicer1	A	T	12: 104,673,144 (GRCm39)	F792I	probably damaging	Het
Dnajc13	T	C	9: 104,049,781 (GRCm39)	K1780R	probably benign	Het
Dph5	A	C	3: 115,708,782 (GRCm39)	N155H	probably benign	Het
Dscam	T	C	16: 96,626,982 (GRCm39)		probably null	Het
Etl4	C	A	2: 20,810,382 (GRCm39)		probably benign	Het
Flt3l	T	C	7: 44,785,450 (GRCm39)	S9G	probably benign	Het
Fmnl2	A	G	2: 52,944,498 (GRCm39)	E159G	possibly damaging	Het
Fryl	A	G	5: 73,240,715 (GRCm39)	I1295T	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gatad2b	T	A	3: 90,263,489 (GRCm39)	S529T	probably benign	Het
Herc6	G	A	6: 57,639,347 (GRCm39)	G905E	possibly damaging	Het
Hhip	T	A	8: 80,724,884 (GRCm39)	N296I	probably damaging	Het
Hmgcr	A	T	13: 96,787,151 (GRCm39)		probably benign	Het
Kalrn	T	G	16: 33,830,951 (GRCm39)	N723H	possibly damaging	Het
Mroh5	T	A	15: 73,662,588 (GRCm39)	Y242F	possibly damaging	Het
Msh3	T	A	13: 92,483,848 (GRCm39)	K258*	probably null	Het
Myo1a	T	C	10: 127,555,732 (GRCm39)		probably benign	Het
Nlrp4f	C	T	13: 65,342,317 (GRCm39)	E443K	probably benign	Het
Nupr2	A	G	5: 129,937,533 (GRCm39)	Y34C	probably damaging	Het
Ociad1	T	C	5: 73,452,255 (GRCm39)		probably benign	Het
Or1af1	A	T	2: 37,110,208 (GRCm39)	K236*	probably null	Het
Or5af2	T	A	11: 58,708,577 (GRCm39)	L248M	probably damaging	Het
Or5b3	A	T	19: 13,388,784 (GRCm39)	M284L	probably benign	Het
Or5p5	A	G	7: 107,414,331 (GRCm39)	D182G	probably damaging	Het
Or6ae1	T	C	7: 139,742,002 (GRCm39)	N287S	probably damaging	Het
P2ry12	C	A	3: 59,124,908 (GRCm39)	V256F	probably damaging	Het
Pcdhb22	T	A	18: 37,651,904 (GRCm39)	I124N	probably damaging	Het
Pcnt	A	G	10: 76,256,375 (GRCm39)	F622L	probably damaging	Het
Pfas	A	T	11: 68,888,863 (GRCm39)	N361K	probably benign	Het
Plod2	T	G	9: 92,487,480 (GRCm39)	L600V	possibly damaging	Het
Pole	T	C	5: 110,446,854 (GRCm39)	Y631H	probably damaging	Het
Proser1	T	C	3: 53,386,197 (GRCm39)	L693P	probably damaging	Het
Ptprd	A	G	4: 75,875,476 (GRCm39)	Y1195H	probably damaging	Het
Rbm27	T	A	18: 42,459,091 (GRCm39)		probably null	Het
Ric8a	A	G	7: 140,437,886 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rimkla	C	T	4: 119,335,177 (GRCm39)	V69M	probably damaging	Het
Scfd1	A	T	12: 51,459,360 (GRCm39)	K307M	probably damaging	Het
Sh2b2	A	G	5: 136,261,117 (GRCm39)	F33S	probably damaging	Het
Smg7	T	G	1: 152,746,508 (GRCm39)		probably null	Het
Srebf1	T	C	11: 60,094,942 (GRCm39)	T486A	probably benign	Het
Strn3	G	A	12: 51,657,187 (GRCm39)	T642I	probably damaging	Het
Syne2	T	C	12: 76,028,837 (GRCm39)		probably null	Het
Syne3	A	G	12: 104,935,619 (GRCm39)	L53P	probably damaging	Het
Tcea1	T	A	1: 4,950,569 (GRCm39)		probably benign	Het
Tmem30b	T	C	12: 73,592,942 (GRCm39)	N58D	probably benign	Het
Trim25	A	T	11: 88,890,564 (GRCm39)	T84S	probably benign	Het
Trip4	A	T	9: 65,746,286 (GRCm39)	F537I	possibly damaging	Het
Uaca	G	A	9: 60,755,900 (GRCm39)		probably benign	Het
Ugt2b34	T	A	5: 87,040,758 (GRCm39)	Y388F	possibly damaging	Het
Vmn2r71	T	C	7: 85,268,640 (GRCm39)	V281A	probably benign	Het
Vps13d	A	T	4: 144,882,502 (GRCm39)	D1030E	probably damaging	Het
Vps8	C	A	16: 21,261,107 (GRCm39)	F82L	probably damaging	Het
Zfp296	A	G	7: 19,313,661 (GRCm39)	D172G	probably benign	Het
Zfp977	C	A	7: 42,229,958 (GRCm39)	C189F	probably damaging	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
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'- CTAGCAATGCAAAAGAACTCTGCCG -3'
(R):5'- TGCTCTTATGCTCAGGTTACATGTCAC -3'

Sequencing Primer
(F):5'- GCTTCTTGTAACAACGAAGACG -3'
(R):5'- acacacaaactctacatgtcctc -3'

Posted On

2014-08-01