Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00693:Ipo11'

10330

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ipo11

Ensembl Gene

ENSMUSG00000042590

Gene Name

importin 11

Synonyms

Ranbp11, 1700081H05Rik, 2510001A17Rik, E330021B14Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00693

Quality Score

Status

Chromosome

Chromosomal Location

106930947-107073466 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107033768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 238 (F238Y)

Ref Sequence

ENSEMBL: ENSMUSP00000140046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080856] [ENSMUST00000186033]

AlphaFold

Q8K2V6

Predicted Effect

probably damaging
Transcript: ENSMUST00000080856
AA Change: F238Y

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

SMART Domains

Protein: ENSMUSP00000079667
Gene: ENSMUSG00000042590
AA Change: F238Y

Domain	Start	End	E-Value	Type
IBN_N	28	100	7.71e-12	SMART
low complexity region	375	382	N/A	INTRINSIC
low complexity region	563	570	N/A	INTRINSIC
low complexity region	845	856	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186005

Predicted Effect

probably damaging
Transcript: ENSMUST00000186033
AA Change: F238Y

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

SMART Domains

Protein: ENSMUSP00000140046
Gene: ENSMUSG00000042590
AA Change: F238Y

Domain	Start	End	E-Value	Type
IBN_N	28	100	7.71e-12	SMART
low complexity region	375	382	N/A	INTRINSIC
low complexity region	563	570	N/A	INTRINSIC
low complexity region	854	865	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a7	G	A	19: 20,677,410 (GRCm39)	P404S	probably damaging	Het
Bltp1	A	G	3: 37,106,696 (GRCm39)		probably benign	Het
Ccng1	A	G	11: 40,644,885 (GRCm39)	V4A	probably benign	Het
Col4a3	T	C	1: 82,675,475 (GRCm39)	Y1176H	unknown	Het
Dyrk3	T	C	1: 131,064,074 (GRCm39)	I3V	possibly damaging	Het
Gpsm3	A	G	17: 34,810,247 (GRCm39)	E149G	probably damaging	Het
Hsd3b6	A	C	3: 98,713,594 (GRCm39)	L235R	probably damaging	Het
Kcnh7	C	T	2: 62,564,598 (GRCm39)	R887K	probably benign	Het
Lrrc8a	T	C	2: 30,145,327 (GRCm39)	V47A	probably benign	Het
Lsm14b	A	G	2: 179,674,419 (GRCm39)	N241D	probably damaging	Het
Mtss1	T	A	15: 58,815,973 (GRCm39)	D529V	probably damaging	Het
Nup58	A	T	14: 60,475,969 (GRCm39)	S283T	probably benign	Het
Odad2	C	T	18: 7,211,504 (GRCm39)	G790D	probably damaging	Het
Pno1	A	G	11: 17,161,317 (GRCm39)	L64P	probably benign	Het
Pramel28	G	T	4: 143,692,392 (GRCm39)	P203Q	possibly damaging	Het
Proc	A	G	18: 32,256,566 (GRCm39)	V367A	probably benign	Het
Sez6l	A	T	5: 112,569,879 (GRCm39)	I964N	probably damaging	Het
Speer2	A	T	16: 69,657,406 (GRCm39)	M79K	probably benign	Het
Tef	T	C	15: 81,699,384 (GRCm39)	S131P	probably benign	Het
Ubr2	T	C	17: 47,283,907 (GRCm39)	T581A	probably benign	Het
Unc13c	A	T	9: 73,665,884 (GRCm39)	D1045E	probably benign	Het
Vsig8	T	C	1: 172,389,156 (GRCm39)	V136A	probably damaging	Het
Wee1	A	T	7: 109,734,060 (GRCm39)		probably null	Het

Other mutations in Ipo11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Ipo11	APN	13	106,983,952 (GRCm39)	missense	possibly damaging	0.81
IGL00971:Ipo11	APN	13	106,993,277 (GRCm39)	missense	probably damaging	1.00
IGL01023:Ipo11	APN	13	107,033,767 (GRCm39)	missense	probably benign	0.44
IGL01331:Ipo11	APN	13	106,932,254 (GRCm39)	missense	possibly damaging	0.92
IGL01608:Ipo11	APN	13	106,971,002 (GRCm39)	intron	probably benign
IGL02021:Ipo11	APN	13	106,993,745 (GRCm39)	missense	probably damaging	1.00
IGL02620:Ipo11	APN	13	107,012,789 (GRCm39)	critical splice acceptor site	probably null
IGL02651:Ipo11	APN	13	107,012,114 (GRCm39)	missense	probably damaging	1.00
IGL02699:Ipo11	APN	13	107,025,905 (GRCm39)	missense	possibly damaging	0.94
IGL02928:Ipo11	APN	13	107,025,863 (GRCm39)	splice site	probably benign
R0017:Ipo11	UTSW	13	107,023,238 (GRCm39)	missense	probably benign	0.00
R0017:Ipo11	UTSW	13	107,023,238 (GRCm39)	missense	probably benign	0.00
R0032:Ipo11	UTSW	13	106,970,971 (GRCm39)	intron	probably benign
R0164:Ipo11	UTSW	13	107,046,702 (GRCm39)	splice site	probably benign
R0333:Ipo11	UTSW	13	107,007,271 (GRCm39)	missense	probably benign	0.00
R0499:Ipo11	UTSW	13	107,061,595 (GRCm39)	missense	probably benign	0.00
R0555:Ipo11	UTSW	13	107,028,969 (GRCm39)	missense	probably damaging	1.00
R0718:Ipo11	UTSW	13	107,056,119 (GRCm39)	missense	possibly damaging	0.91
R0899:Ipo11	UTSW	13	107,037,324 (GRCm39)	nonsense	probably null
R1590:Ipo11	UTSW	13	107,023,225 (GRCm39)	missense	probably damaging	1.00
R1700:Ipo11	UTSW	13	106,932,170 (GRCm39)	missense	probably benign
R1851:Ipo11	UTSW	13	106,948,765 (GRCm39)	missense	possibly damaging	0.73
R1852:Ipo11	UTSW	13	106,948,765 (GRCm39)	missense	possibly damaging	0.73
R1853:Ipo11	UTSW	13	106,997,395 (GRCm39)	missense	probably benign	0.19
R2012:Ipo11	UTSW	13	107,056,130 (GRCm39)	missense	probably benign	0.01
R2168:Ipo11	UTSW	13	107,016,118 (GRCm39)	splice site	probably null
R2183:Ipo11	UTSW	13	107,061,595 (GRCm39)	missense	probably benign	0.00
R4254:Ipo11	UTSW	13	107,029,017 (GRCm39)	missense	probably benign	0.00
R4607:Ipo11	UTSW	13	107,037,319 (GRCm39)	missense	probably damaging	0.98
R4610:Ipo11	UTSW	13	107,016,245 (GRCm39)	missense	probably benign	0.06
R4654:Ipo11	UTSW	13	106,970,692 (GRCm39)	intron	probably benign
R4792:Ipo11	UTSW	13	106,970,668 (GRCm39)	intron	probably benign
R4990:Ipo11	UTSW	13	106,997,395 (GRCm39)	missense	probably benign	0.19
R5309:Ipo11	UTSW	13	106,970,481 (GRCm39)	intron	probably benign
R5580:Ipo11	UTSW	13	107,037,255 (GRCm39)	missense	probably benign
R5822:Ipo11	UTSW	13	106,984,926 (GRCm39)	unclassified	probably benign
R6459:Ipo11	UTSW	13	107,002,277 (GRCm39)	splice site	probably null
R6597:Ipo11	UTSW	13	107,002,371 (GRCm39)	critical splice donor site	probably null
R6803:Ipo11	UTSW	13	106,993,766 (GRCm39)	missense	probably benign
R6882:Ipo11	UTSW	13	107,037,190 (GRCm39)	splice site	probably null
R7071:Ipo11	UTSW	13	107,061,604 (GRCm39)	missense	probably damaging	1.00
R7202:Ipo11	UTSW	13	107,012,078 (GRCm39)	missense	probably damaging	1.00
R7214:Ipo11	UTSW	13	107,032,365 (GRCm39)	missense	probably null
R7221:Ipo11	UTSW	13	107,029,065 (GRCm39)	missense	probably damaging	1.00
R7392:Ipo11	UTSW	13	107,028,199 (GRCm39)	nonsense	probably null
R7871:Ipo11	UTSW	13	107,028,976 (GRCm39)	missense	probably benign	0.01
R8189:Ipo11	UTSW	13	107,061,604 (GRCm39)	missense	probably damaging	1.00
R8426:Ipo11	UTSW	13	106,978,678 (GRCm39)	missense	possibly damaging	0.92
R8951:Ipo11	UTSW	13	106,978,690 (GRCm39)	missense	possibly damaging	0.80
R8981:Ipo11	UTSW	13	107,061,633 (GRCm39)	missense	probably benign	0.18
R9272:Ipo11	UTSW	13	107,046,713 (GRCm39)	missense	probably benign	0.00
R9765:Ipo11	UTSW	13	107,061,556 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06