Mutagenetix > Incidental Mutation

Incidental Mutation 'R0505:Ipo5'

186153

Institutional Source

Beutler Lab

Gene Symbol

Ipo5

Ensembl Gene

ENSMUSG00000030662

Gene Name

importin 5

Synonyms

1110011C18Rik, RanBP5, Kpnb3, importin beta 3, IMB3, 5730478E03Rik

MMRRC Submission

038700-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R0505 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

121148636-121185411 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121180145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 860 (W860R)

Ref Sequence

ENSEMBL: ENSMUSP00000032898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032898]

AlphaFold

Q8BKC5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032898
AA Change: W860R

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032898
Gene: ENSMUSG00000030662
AA Change: W860R

Domain	Start	End	E-Value	Type
low complexity region	65	72	N/A	INTRINSIC
Pfam:HEAT_2	359	467	3.3e-13	PFAM
Pfam:HEAT_EZ	372	426	3.7e-10	PFAM
Pfam:Vac14_Fab1_bd	373	430	3.8e-9	PFAM
Pfam:HEAT	400	430	4.2e-7	PFAM
Pfam:HEAT	906	936	4.2e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228277

Meta Mutation Damage Score

0.1807

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (119/121)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(33) : Targeted, other(2) Gene trapped(31)

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,241,058 (GRCm39)	Y974H	probably benign	Het
Abca2	G	T	2: 25,324,906 (GRCm39)	G300V	probably benign	Het
Abi1	A	G	2: 22,852,516 (GRCm39)		probably benign	Het
Actr10	T	A	12: 71,006,738 (GRCm39)	Y332N	probably damaging	Het
Adam25	G	T	8: 41,208,261 (GRCm39)	C509F	probably damaging	Het
Adck1	A	T	12: 88,338,461 (GRCm39)		probably benign	Het
Adgra3	A	G	5: 50,166,676 (GRCm39)		probably null	Het
Adgrl1	G	T	8: 84,661,279 (GRCm39)		probably benign	Het
Akr1c21	A	G	13: 4,626,306 (GRCm39)	Y110C	probably damaging	Het
Arhgef25	T	C	10: 127,019,566 (GRCm39)	I463V	probably null	Het
Atp6v1e2	C	T	17: 87,252,006 (GRCm39)	V131M	probably benign	Het
Bdnf	A	G	2: 109,505,688 (GRCm39)		probably null	Het
Bltp3b	T	C	10: 89,627,305 (GRCm39)	S145P	probably damaging	Het
C7	A	T	15: 5,023,624 (GRCm39)		probably benign	Het
Cdc27	T	C	11: 104,419,114 (GRCm39)	T273A	probably benign	Het
Cdo1	T	A	18: 46,848,678 (GRCm39)	I187F	probably benign	Het
Cep104	A	T	4: 154,080,761 (GRCm39)	T742S	probably benign	Het
Ckm	A	T	7: 19,153,377 (GRCm39)	K223*	probably null	Het
Cmtr1	C	T	17: 29,895,259 (GRCm39)	P586L	probably benign	Het
Csmd1	C	T	8: 16,042,758 (GRCm39)	R2325Q	probably damaging	Het
Dcpp1	A	T	17: 24,101,568 (GRCm39)	I106L	possibly damaging	Het
Diaph3	A	C	14: 87,328,400 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 118,070,245 (GRCm39)	V1520A	probably damaging	Het
Dnajc25	T	A	4: 59,020,438 (GRCm39)	M168K		Het
Dpp3	T	C	19: 4,964,682 (GRCm39)	N542D	probably damaging	Het
Ebf2	A	T	14: 67,609,185 (GRCm39)	K199*	probably null	Het
Eeig2	T	C	3: 108,887,520 (GRCm39)	E248G	probably benign	Het
Efcab11	T	A	12: 99,685,294 (GRCm39)	Q160L	probably benign	Het
Eif2ak4	T	A	2: 118,261,517 (GRCm39)	S686T	probably benign	Het
Epha6	C	T	16: 60,026,095 (GRCm39)	S449N	possibly damaging	Het
Ercc4	T	C	16: 12,944,331 (GRCm39)	V329A	probably benign	Het
Faf1	T	C	4: 109,697,600 (GRCm39)	F309L	possibly damaging	Het
G6pd2	C	A	5: 61,966,910 (GRCm39)	D228E	probably benign	Het
Ggt1	T	G	10: 75,421,791 (GRCm39)	V546G	probably damaging	Het
Gpatch4	G	T	3: 87,958,524 (GRCm39)	V3F	probably damaging	Het
Gprin3	A	G	6: 59,330,372 (GRCm39)	L645P	probably damaging	Het
Hyal2	A	G	9: 107,449,270 (GRCm39)	Y342C	probably benign	Het
Igf2bp2	A	G	16: 21,907,849 (GRCm39)	I16T	possibly damaging	Het
Inca1	T	C	11: 70,581,025 (GRCm39)	Y61C	probably damaging	Het
Kcnj9	C	T	1: 172,150,591 (GRCm39)	A341T	probably benign	Het
Kdm5b	T	C	1: 134,530,309 (GRCm39)	V440A	probably damaging	Het
L3mbtl1	C	T	2: 162,789,255 (GRCm39)		probably benign	Het
Lin54	G	A	5: 100,600,152 (GRCm39)	T307I	probably damaging	Het
Lrrc18	C	A	14: 32,731,096 (GRCm39)	Q212K	probably benign	Het
Lrrc37a	A	G	11: 103,393,851 (GRCm39)	S525P	probably benign	Het
Lrrc71	T	A	3: 87,653,006 (GRCm39)	S137C	probably damaging	Het
Lrrk1	A	T	7: 65,940,656 (GRCm39)		probably null	Het
Man2b2	G	A	5: 36,973,542 (GRCm39)	S58L	probably benign	Het
Masp1	T	A	16: 23,276,888 (GRCm39)	H539L	probably benign	Het
Med1	G	A	11: 98,047,730 (GRCm39)	P1022L	probably damaging	Het
Meis1	T	A	11: 18,961,360 (GRCm39)	H171L	probably damaging	Het
Mier1	T	A	4: 103,012,820 (GRCm39)		probably benign	Het
Mmp13	A	T	9: 7,272,929 (GRCm39)	R96S	probably damaging	Het
Mms19	G	A	19: 41,942,173 (GRCm39)	T38I	probably damaging	Het
Mrc1	G	A	2: 14,314,843 (GRCm39)	C976Y	probably damaging	Het
Mrtfb	C	T	16: 13,230,390 (GRCm39)	T1025I	possibly damaging	Het
Naalad2	A	G	9: 18,297,191 (GRCm39)	Y32H	probably benign	Het
Ndufs1	A	G	1: 63,183,085 (GRCm39)		probably benign	Het
Nefm	C	T	14: 68,361,608 (GRCm39)	D219N	probably damaging	Het
Nwd1	C	T	8: 73,388,965 (GRCm39)	P172L	probably damaging	Het
Nwd2	T	A	5: 63,962,454 (GRCm39)	D679E	probably damaging	Het
Ogdh	T	A	11: 6,289,936 (GRCm39)		probably benign	Het
Olfm3	T	A	3: 114,916,330 (GRCm39)	S421T	possibly damaging	Het
Opn5	T	G	17: 42,903,844 (GRCm39)	T164P	possibly damaging	Het
Or4k37	A	T	2: 111,159,673 (GRCm39)	N303I	probably benign	Het
Or51a25	T	A	7: 102,373,236 (GRCm39)	I154F	probably damaging	Het
Or52a24	T	C	7: 103,381,583 (GRCm39)	V150A	probably benign	Het
Or5ak20	A	G	2: 85,184,093 (GRCm39)	M59T	possibly damaging	Het
Or5b12b	T	C	19: 12,861,443 (GRCm39)	L66P	probably damaging	Het
Or5b12b	A	G	19: 12,861,910 (GRCm39)	T222A	probably damaging	Het
Pde7b	C	T	10: 20,314,492 (GRCm39)	V166M	probably damaging	Het
Peds1	A	T	2: 167,486,907 (GRCm39)		probably benign	Het
Pik3ap1	T	C	19: 41,313,003 (GRCm39)	N370S	probably damaging	Het
Pkhd1l1	A	T	15: 44,452,814 (GRCm39)	D3913V	probably damaging	Het
Pld1	A	G	3: 28,174,971 (GRCm39)	I90V	possibly damaging	Het
Plxna2	A	G	1: 194,326,656 (GRCm39)	T197A	possibly damaging	Het
Plxna4	A	T	6: 32,179,054 (GRCm39)	M987K	probably benign	Het
Pmch	A	G	10: 87,927,221 (GRCm39)	N75D	probably benign	Het
Prom2	T	A	2: 127,374,787 (GRCm39)	Q583L	possibly damaging	Het
Pyroxd1	T	A	6: 142,299,288 (GRCm39)	M148K	possibly damaging	Het
R3hdm2	C	T	10: 127,293,569 (GRCm39)	L158F	probably damaging	Het
Rapgef6	A	T	11: 54,516,789 (GRCm39)	T349S	probably benign	Het
Rfx5	C	T	3: 94,863,666 (GRCm39)	T105I	probably damaging	Het
Rif1	C	A	2: 52,000,749 (GRCm39)	P1401Q	probably damaging	Het
Robo3	G	A	9: 37,328,055 (GRCm39)		probably benign	Het
Rpn1	T	A	6: 88,067,224 (GRCm39)	S195T	probably benign	Het
Rslcan18	C	A	13: 67,250,183 (GRCm39)	K17N	probably benign	Het
Rsph3b	A	T	17: 7,209,126 (GRCm39)	I48N	probably damaging	Het
Sbf2	A	T	7: 109,998,550 (GRCm39)	Y628N	probably damaging	Het
Sis	T	C	3: 72,867,629 (GRCm39)	T139A	probably benign	Het
Slc22a14	A	G	9: 119,001,100 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Smarcb1	T	C	10: 75,732,900 (GRCm39)	T372A	probably damaging	Het
Spidr	T	A	16: 15,855,531 (GRCm39)	H328L	probably damaging	Het
Sun5	T	A	2: 153,712,872 (GRCm39)	D16V	probably damaging	Het
Syde2	G	A	3: 145,720,135 (GRCm39)	E1053K	possibly damaging	Het
Syne2	T	C	12: 76,146,238 (GRCm39)	S6419P	probably damaging	Het
Tenm3	G	A	8: 48,794,195 (GRCm39)		probably benign	Het
Timm44	C	A	8: 4,310,532 (GRCm39)	E407*	probably null	Het
Tnpo2	A	G	8: 85,773,991 (GRCm39)	T342A	probably benign	Het
Trio	A	G	15: 27,767,993 (GRCm39)	C1964R	probably benign	Het
Trip11	A	C	12: 101,851,931 (GRCm39)	L711R	probably damaging	Het
Trp53bp1	A	T	2: 121,100,450 (GRCm39)	H101Q	probably damaging	Het
Trpm6	A	G	19: 18,851,266 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,680,335 (GRCm39)		probably benign	Het
Ucp1	T	A	8: 84,021,936 (GRCm39)	M256K	possibly damaging	Het
Unc5a	T	A	13: 55,152,767 (GRCm39)	S838T	probably damaging	Het
Uxs1	T	C	1: 43,804,046 (GRCm39)		probably null	Het
Vmn2r108	A	T	17: 20,683,096 (GRCm39)	C703S	possibly damaging	Het
Zc3hav1	C	T	6: 38,309,599 (GRCm39)	G408R	probably damaging	Het
Zfp1004	T	A	2: 150,035,000 (GRCm39)	C471*	probably null	Het
Zfp609	G	A	9: 65,610,744 (GRCm39)	L740F	possibly damaging	Het
Zfp69	T	C	4: 120,788,292 (GRCm39)	E341G	probably damaging	Het
Zfp707	A	T	15: 75,847,105 (GRCm39)	H312L	probably damaging	Het
Zfp773	T	C	7: 7,136,023 (GRCm39)	D191G	probably benign	Het
Zgrf1	C	A	3: 127,366,887 (GRCm39)	D755E	probably benign	Het
Zscan5b	T	A	7: 6,242,074 (GRCm39)	I431N	probably damaging	Het

Other mutations in Ipo5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01461:Ipo5	APN	14	121,165,945 (GRCm39)	missense	probably damaging	0.98
IGL01614:Ipo5	APN	14	121,172,507 (GRCm39)	missense	probably benign	0.01
IGL01835:Ipo5	APN	14	121,163,650 (GRCm39)	missense	probably benign	0.24
IGL02010:Ipo5	APN	14	121,170,789 (GRCm39)	missense	probably benign	0.20
IGL02303:Ipo5	APN	14	121,154,795 (GRCm39)	missense	probably benign
IGL02344:Ipo5	APN	14	121,180,191 (GRCm39)	splice site	probably benign
IGL02657:Ipo5	APN	14	121,181,212 (GRCm39)	missense	possibly damaging	0.47
IGL03094:Ipo5	APN	14	121,181,089 (GRCm39)	splice site	probably benign
IGL03158:Ipo5	APN	14	121,179,303 (GRCm39)	splice site	probably benign
IGL03309:Ipo5	APN	14	121,157,416 (GRCm39)	missense	probably benign
IGL03392:Ipo5	APN	14	121,180,099 (GRCm39)	missense	probably damaging	0.99
3-1:Ipo5	UTSW	14	121,170,348 (GRCm39)	missense	probably benign	0.41
PIT4544001:Ipo5	UTSW	14	121,165,949 (GRCm39)	missense	probably damaging	0.99
R0326:Ipo5	UTSW	14	121,159,635 (GRCm39)	missense	probably benign	0.19
R0559:Ipo5	UTSW	14	121,176,053 (GRCm39)	missense	probably damaging	1.00
R0590:Ipo5	UTSW	14	121,181,769 (GRCm39)	missense	possibly damaging	0.76
R0969:Ipo5	UTSW	14	121,181,937 (GRCm39)	missense	possibly damaging	0.64
R1450:Ipo5	UTSW	14	121,181,805 (GRCm39)	missense	probably benign	0.04
R1672:Ipo5	UTSW	14	121,170,714 (GRCm39)	missense	probably damaging	1.00
R2471:Ipo5	UTSW	14	121,159,574 (GRCm39)	missense	probably benign	0.12
R3508:Ipo5	UTSW	14	121,176,956 (GRCm39)	missense	probably damaging	1.00
R3696:Ipo5	UTSW	14	121,159,574 (GRCm39)	missense	probably benign	0.12
R4118:Ipo5	UTSW	14	121,176,073 (GRCm39)	missense	probably benign	0.04
R4418:Ipo5	UTSW	14	121,181,305 (GRCm39)	missense	possibly damaging	0.81
R4760:Ipo5	UTSW	14	121,179,054 (GRCm39)	missense	probably benign	0.02
R4839:Ipo5	UTSW	14	121,157,450 (GRCm39)	missense	probably benign	0.00
R4913:Ipo5	UTSW	14	121,172,498 (GRCm39)	missense	probably damaging	1.00
R5326:Ipo5	UTSW	14	121,163,683 (GRCm39)	missense	probably benign
R5339:Ipo5	UTSW	14	121,181,122 (GRCm39)	missense	probably damaging	1.00
R5483:Ipo5	UTSW	14	121,157,450 (GRCm39)	missense	probably benign	0.06
R5542:Ipo5	UTSW	14	121,163,683 (GRCm39)	missense	probably benign
R5579:Ipo5	UTSW	14	121,176,025 (GRCm39)	missense	probably benign	0.26
R5954:Ipo5	UTSW	14	121,157,396 (GRCm39)	missense	probably damaging	1.00
R6948:Ipo5	UTSW	14	121,160,527 (GRCm39)	missense	probably benign	0.00
R7365:Ipo5	UTSW	14	121,157,497 (GRCm39)	missense	probably benign
R7563:Ipo5	UTSW	14	121,183,567 (GRCm39)	missense	probably benign	0.00
R7782:Ipo5	UTSW	14	121,170,537 (GRCm39)	missense	possibly damaging	0.95
R7911:Ipo5	UTSW	14	121,167,051 (GRCm39)	splice site	probably null
R8222:Ipo5	UTSW	14	121,157,414 (GRCm39)	missense	probably benign	0.00
R8238:Ipo5	UTSW	14	121,172,652 (GRCm39)	missense	probably damaging	1.00
R8483:Ipo5	UTSW	14	121,183,560 (GRCm39)	missense	probably benign
R8826:Ipo5	UTSW	14	121,157,366 (GRCm39)	missense	probably damaging	1.00
R9042:Ipo5	UTSW	14	121,160,547 (GRCm39)	missense	probably benign	0.01
W0251:Ipo5	UTSW	14	121,176,197 (GRCm39)	missense	probably benign	0.17
X0062:Ipo5	UTSW	14	121,179,083 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCAGGGATACTTCAGCCTCCATGTC -3'
(R):5'- ACGCAAAGTCTTGGGTTCTGCAC -3'

Sequencing Primer
(F):5'- GCCTCCATGTCCTCAATAGAG -3'
(R):5'- cacacacacacacacacacaG -3'

Posted On

2014-05-08