Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01552:Ipo13'

90603

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ipo13

Ensembl Gene

ENSMUSG00000033365

Gene Name

importin 13

Synonyms

Kap13

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.951) question?

Stock #

IGL01552

Quality Score

Status

Chromosome

Chromosomal Location

117894486-117914999 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117900964 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 734 (M734T)

Ref Sequence

ENSEMBL: ENSMUSP00000035989 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036156
AA Change: M734T

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000035989
Gene: ENSMUSG00000033365
AA Change: M734T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153918

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	G	3: 108,481,312	W252R	possibly damaging	Het
Arl8a	T	C	1: 135,152,868		probably null	Het
Bivm	A	G	1: 44,126,773	N128D	probably benign	Het
Chil3	C	A	3: 106,148,848	G330V	probably damaging	Het
Dscaml1	A	G	9: 45,447,908	H155R	probably damaging	Het
Etl4	T	A	2: 20,778,189	V687D	probably damaging	Het
Fbxw10	A	T	11: 62,857,684		probably null	Het
Gfpt2	G	T	11: 49,805,005	E21*	probably null	Het
Gm10197	C	T	19: 53,371,691	V26I	possibly damaging	Het
Gm4788	A	G	1: 139,739,302	Y412H	probably damaging	Het
Gm6614	T	C	6: 141,987,706	K451R	possibly damaging	Het
Golim4	T	C	3: 75,956,195	E35G	probably damaging	Het
Igdcc4	A	G	9: 65,122,502		probably benign	Het
Ino80d	A	G	1: 63,057,977		probably benign	Het
Klk1b27	C	T	7: 44,054,615	L61F	probably damaging	Het
Lamtor5	T	C	3: 107,279,008	V31A	probably benign	Het
Lrp1	A	T	10: 127,588,510	L769*	probably null	Het
Nipsnap1	A	T	11: 4,889,124	S135C	probably damaging	Het
Olfr1277	C	A	2: 111,269,912	G152C	probably damaging	Het
Pparg	A	T	6: 115,490,122	H452L	probably benign	Het
Rab34	C	T	11: 78,191,438	A202V	probably damaging	Het
Ryr3	T	A	2: 112,825,883	T1923S	possibly damaging	Het
Sall4	A	G	2: 168,756,123	S266P	probably damaging	Het
Sh2d4b	T	C	14: 40,860,648	Q195R	probably benign	Het
Sik2	C	A	9: 50,917,522		probably benign	Het
Slc25a36	A	G	9: 97,079,233	V111A	probably benign	Het
Sptbn5	A	T	2: 120,054,422		probably benign	Het
Tac2	G	A	10: 127,726,101	E25K	possibly damaging	Het
Tnc	A	G	4: 63,970,408	V1807A	probably damaging	Het
Top3b	T	C	16: 16,887,823		probably benign	Het
Zfp827	A	G	8: 79,076,191	E464G	probably damaging	Het

Other mutations in Ipo13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Ipo13	APN	4	117903405	missense	probably benign	0.10
IGL00800:Ipo13	APN	4	117912308	missense	probably benign	0.31
IGL00971:Ipo13	APN	4	117914367	missense	possibly damaging	0.83
IGL01957:Ipo13	APN	4	117903881	missense	probably damaging	0.99
IGL02262:Ipo13	APN	4	117903813	missense	probably damaging	1.00
R0109:Ipo13	UTSW	4	117905016	missense	possibly damaging	0.92
R0142:Ipo13	UTSW	4	117905569	missense	probably damaging	1.00
R0771:Ipo13	UTSW	4	117894646	missense	possibly damaging	0.78
R1248:Ipo13	UTSW	4	117901031	missense	probably damaging	1.00
R1381:Ipo13	UTSW	4	117904395	missense	probably damaging	1.00
R1497:Ipo13	UTSW	4	117904659	missense	probably benign	0.04
R1614:Ipo13	UTSW	4	117904618	missense	probably benign	0.00
R1711:Ipo13	UTSW	4	117904522	missense	probably benign	0.38
R2037:Ipo13	UTSW	4	117904661	nonsense	probably null
R2200:Ipo13	UTSW	4	117904903	critical splice donor site	probably null
R3698:Ipo13	UTSW	4	117900693	missense	probably damaging	1.00
R3949:Ipo13	UTSW	4	117901042	missense	probably benign	0.10
R4687:Ipo13	UTSW	4	117901576	missense	probably benign	0.06
R4894:Ipo13	UTSW	4	117903441	missense	probably damaging	0.99
R4894:Ipo13	UTSW	4	117904490	missense	possibly damaging	0.84
R4956:Ipo13	UTSW	4	117901571	missense	probably benign	0.00
R5679:Ipo13	UTSW	4	117894832	missense	probably damaging	1.00
R5879:Ipo13	UTSW	4	117903203	missense	possibly damaging	0.67
R5921:Ipo13	UTSW	4	117912089	missense	probably benign	0.14
R6250:Ipo13	UTSW	4	117912154	missense	possibly damaging	0.93
R6875:Ipo13	UTSW	4	117904911	missense	possibly damaging	0.90
R7178:Ipo13	UTSW	4	117903884	missense	possibly damaging	0.83
R7412:Ipo13	UTSW	4	117894871	missense	probably benign
R7687:Ipo13	UTSW	4	117911891	missense	probably benign	0.01
R7774:Ipo13	UTSW	4	117914297	missense	probably benign	0.11
R8390:Ipo13	UTSW	4	117912337	missense	probably damaging	0.99
Z1088:Ipo13	UTSW	4	117904680	missense	probably benign	0.14
Z1176:Ipo13	UTSW	4	117904630	nonsense	probably null

Posted On

2013-12-09