Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00800:Ipo13'

11480

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ipo13

Ensembl Gene

ENSMUSG00000033365

Gene Name

importin 13

Synonyms

Imp13, Kap13

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL00800

Quality Score

Status

Chromosome

Chromosomal Location

117751683-117772196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 117769505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 96 (D96N)

Ref Sequence

ENSEMBL: ENSMUSP00000035989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036156]

AlphaFold

Q8K0C1

Predicted Effect

probably benign
Transcript: ENSMUST00000036156
AA Change: D96N

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035989
Gene: ENSMUSG00000033365
AA Change: D96N

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
IBN_N	45	111	2.05e-7	SMART
Pfam:Xpo1	116	263	4.8e-29	PFAM
low complexity region	668	692	N/A	INTRINSIC
low complexity region	767	779	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.] This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is dependent on the Ras-related nuclear protein-GTPase system. The encoded protein is also involved in nuclear export of the eukaryotic translation initiation factor 1A.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a gene trap insertion die prior to genotyping age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,854,613 (GRCm39)	I926L	probably benign	Het
Adam6b	T	C	12: 113,454,062 (GRCm39)	V293A	probably benign	Het
Adamts14	T	A	10: 61,041,197 (GRCm39)	T838S	probably benign	Het
Cdk13	A	G	13: 17,902,727 (GRCm39)	V941A	probably damaging	Het
Cep128	T	C	12: 91,222,438 (GRCm39)	K762E	possibly damaging	Het
Dysf	A	G	6: 84,126,980 (GRCm39)	N1366S	probably damaging	Het
Gfra4	A	G	2: 130,882,203 (GRCm39)	S268P	possibly damaging	Het
Il7r	T	G	15: 9,525,195 (GRCm39)	T56P	probably damaging	Het
Kl	G	A	5: 150,904,233 (GRCm39)	W328*	probably null	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Ranbp2	T	A	10: 58,326,526 (GRCm39)	D2732E	probably benign	Het
Rpf2	G	A	10: 40,115,755 (GRCm39)	Q75*	probably null	Het
Scd2	T	C	19: 44,286,569 (GRCm39)	L133P	probably damaging	Het
Slc6a6	T	A	6: 91,718,151 (GRCm39)		probably benign	Het

Other mutations in Ipo13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Ipo13	APN	4	117,760,602 (GRCm39)	missense	probably benign	0.10
IGL00971:Ipo13	APN	4	117,771,564 (GRCm39)	missense	possibly damaging	0.83
IGL01552:Ipo13	APN	4	117,758,161 (GRCm39)	missense	probably benign	0.16
IGL01957:Ipo13	APN	4	117,761,078 (GRCm39)	missense	probably damaging	0.99
IGL02262:Ipo13	APN	4	117,761,010 (GRCm39)	missense	probably damaging	1.00
R0109:Ipo13	UTSW	4	117,762,213 (GRCm39)	missense	possibly damaging	0.92
R0142:Ipo13	UTSW	4	117,762,766 (GRCm39)	missense	probably damaging	1.00
R0771:Ipo13	UTSW	4	117,751,843 (GRCm39)	missense	possibly damaging	0.78
R1248:Ipo13	UTSW	4	117,758,228 (GRCm39)	missense	probably damaging	1.00
R1381:Ipo13	UTSW	4	117,761,592 (GRCm39)	missense	probably damaging	1.00
R1497:Ipo13	UTSW	4	117,761,856 (GRCm39)	missense	probably benign	0.04
R1614:Ipo13	UTSW	4	117,761,815 (GRCm39)	missense	probably benign	0.00
R1711:Ipo13	UTSW	4	117,761,719 (GRCm39)	missense	probably benign	0.38
R2037:Ipo13	UTSW	4	117,761,858 (GRCm39)	nonsense	probably null
R2200:Ipo13	UTSW	4	117,762,100 (GRCm39)	critical splice donor site	probably null
R3698:Ipo13	UTSW	4	117,757,890 (GRCm39)	missense	probably damaging	1.00
R3949:Ipo13	UTSW	4	117,758,239 (GRCm39)	missense	probably benign	0.10
R4687:Ipo13	UTSW	4	117,758,773 (GRCm39)	missense	probably benign	0.06
R4894:Ipo13	UTSW	4	117,761,687 (GRCm39)	missense	possibly damaging	0.84
R4894:Ipo13	UTSW	4	117,760,638 (GRCm39)	missense	probably damaging	0.99
R4956:Ipo13	UTSW	4	117,758,768 (GRCm39)	missense	probably benign	0.00
R5679:Ipo13	UTSW	4	117,752,029 (GRCm39)	missense	probably damaging	1.00
R5879:Ipo13	UTSW	4	117,760,400 (GRCm39)	missense	possibly damaging	0.67
R5921:Ipo13	UTSW	4	117,769,286 (GRCm39)	missense	probably benign	0.14
R6250:Ipo13	UTSW	4	117,769,351 (GRCm39)	missense	possibly damaging	0.93
R6875:Ipo13	UTSW	4	117,762,108 (GRCm39)	missense	possibly damaging	0.90
R7178:Ipo13	UTSW	4	117,761,081 (GRCm39)	missense	possibly damaging	0.83
R7412:Ipo13	UTSW	4	117,752,068 (GRCm39)	missense	probably benign
R7687:Ipo13	UTSW	4	117,769,088 (GRCm39)	missense	probably benign	0.01
R7774:Ipo13	UTSW	4	117,771,494 (GRCm39)	missense	probably benign	0.11
R8390:Ipo13	UTSW	4	117,769,534 (GRCm39)	missense	probably damaging	0.99
R8489:Ipo13	UTSW	4	117,758,219 (GRCm39)	missense	probably damaging	0.98
R8525:Ipo13	UTSW	4	117,762,126 (GRCm39)	missense	probably damaging	0.99
R9039:Ipo13	UTSW	4	117,758,185 (GRCm39)	missense	probably damaging	0.98
R9229:Ipo13	UTSW	4	117,758,801 (GRCm39)	missense	probably damaging	0.96
R9319:Ipo13	UTSW	4	117,769,585 (GRCm39)	missense	probably benign	0.00
R9760:Ipo13	UTSW	4	117,762,778 (GRCm39)	missense	probably benign	0.05
Z1088:Ipo13	UTSW	4	117,761,877 (GRCm39)	missense	probably benign	0.14
Z1176:Ipo13	UTSW	4	117,761,827 (GRCm39)	nonsense	probably null

Posted On

2012-12-06