Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02554:Xpo4'

298443

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xpo4

Ensembl Gene

ENSMUSG00000021952

Gene Name

exportin 4

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.858) question?

Stock #

IGL02554

Quality Score

Status

Chromosome

Chromosomal Location

57577521-57665430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57590088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 884 (T884A)

Ref Sequence

ENSEMBL: ENSMUSP00000133280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089482] [ENSMUST00000174545]

AlphaFold

Q9ESJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000089482
AA Change: T884A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: T884A

Domain	Start	End	E-Value	Type
Blast:IBN_N	37	103	8e-19	BLAST
low complexity region	165	174	N/A	INTRINSIC
low complexity region	459	468	N/A	INTRINSIC
low complexity region	506	517	N/A	INTRINSIC
low complexity region	911	922	N/A	INTRINSIC
Pfam:CRM1_C	954	1144	6.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174545
AA Change: T884A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: T884A

Domain	Start	End	E-Value	Type
Blast:IBN_N	37	103	8e-19	BLAST
low complexity region	165	174	N/A	INTRINSIC
low complexity region	459	468	N/A	INTRINSIC
low complexity region	506	517	N/A	INTRINSIC
low complexity region	911	922	N/A	INTRINSIC
Pfam:CRM1_C	952	1143	5.2e-9	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] XPO4 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments (Lipowsky et al., 2000 [PubMed 10944119]).[supplied by OMIM, Mar 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele appear phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408B17Rik	A	G	18: 34,593,015	S112P	probably benign	Het
9930111J21Rik1	T	A	11: 48,948,003	M586L	probably damaging	Het
Abcg3	T	C	5: 104,969,452	D204G	possibly damaging	Het
Acox3	C	A	5: 35,608,366	L588I	probably damaging	Het
Adamts9	G	T	6: 92,880,847	L849I	probably benign	Het
Alkbh3	T	G	2: 93,996,347	T170P	probably damaging	Het
Anks1b	A	T	10: 90,921,378	H300L	probably damaging	Het
Arhgap29	T	C	3: 121,992,524		probably benign	Het
Cd86	C	T	16: 36,618,485	G181D	probably benign	Het
Cep68	A	T	11: 20,240,096	H305Q	possibly damaging	Het
Clptm1l	A	T	13: 73,607,760	D165V	probably benign	Het
Dctn1	T	C	6: 83,182,722	Y61H	probably damaging	Het
Dnah7a	A	T	1: 53,618,046	M857K	possibly damaging	Het
Gpr158	A	G	2: 21,826,596	M836V	probably benign	Het
Gria1	G	T	11: 57,289,488	A755S	possibly damaging	Het
Helb	G	A	10: 120,089,712	T920M	probably damaging	Het
Hr	T	C	14: 70,559,866		probably benign	Het
Igf2bp1	A	G	11: 95,974,168	S152P	probably damaging	Het
Iqsec1	T	C	6: 90,669,345	Y784C	probably damaging	Het
Ldah	T	A	12: 8,283,935	C275*	probably null	Het
Lpin3	T	C	2: 160,896,787	S220P	probably damaging	Het
Med23	T	C	10: 24,898,575		probably null	Het
Mllt1	T	C	17: 56,899,806	D346G	probably benign	Het
Myef2	A	C	2: 125,100,425		probably null	Het
Myh2	A	G	11: 67,189,165	S1095G	probably benign	Het
Nav1	A	G	1: 135,584,913		silent	Het
Olfr512	A	G	7: 108,713,742	M118V	possibly damaging	Het
Piwil2	G	A	14: 70,391,486		probably benign	Het
Pkhd1l1	T	A	15: 44,578,500	F3612I	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
S100pbp	A	T	4: 129,181,851		probably null	Het
Scnn1b	T	C	7: 121,917,523	I495T	probably damaging	Het
Sgo2b	A	C	8: 63,926,537	V1087G	probably damaging	Het
Sil1	A	T	18: 35,348,733	V91E	probably damaging	Het
Slc5a4b	A	G	10: 76,110,851	I29T	possibly damaging	Het
Spink5	A	T	18: 44,015,594	N908I	probably benign	Het
Svopl	A	C	6: 38,017,043	I351S	probably damaging	Het
Syngr3	A	G	17: 24,686,328	V198A	probably benign	Het
Tbck	C	A	3: 132,751,192	Y622*	probably null	Het
Tex33	A	G	15: 78,378,536	M245T	possibly damaging	Het
Tkt	T	A	14: 30,558,780	M56K	probably damaging	Het
Trip10	T	C	17: 57,263,135	V544A	probably damaging	Het
Txndc16	T	C	14: 45,172,538	E195G	probably damaging	Het
Vmn2r69	G	A	7: 85,409,806	P516S	probably damaging	Het
Vmn2r74	T	C	7: 85,957,373	N255S	probably benign	Het
Zdhhc2	A	G	8: 40,462,114	N167S	probably damaging	Het

Other mutations in Xpo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01944:Xpo4	APN	14	57604398	missense	probably benign
IGL02537:Xpo4	APN	14	57593833	missense	probably benign
IGL02826:Xpo4	APN	14	57629420	missense	possibly damaging	0.50
IGL03071:Xpo4	APN	14	57618228	missense	possibly damaging	0.66
PIT4131001:Xpo4	UTSW	14	57584611	missense	probably null	0.98
R0245:Xpo4	UTSW	14	57630240	missense	probably damaging	1.00
R0546:Xpo4	UTSW	14	57613274	missense	probably benign	0.07
R0606:Xpo4	UTSW	14	57638208	unclassified	probably benign
R0761:Xpo4	UTSW	14	57613383	missense	probably damaging	0.99
R1775:Xpo4	UTSW	14	57603672	missense	probably benign
R1853:Xpo4	UTSW	14	57585907	missense	possibly damaging	0.72
R1923:Xpo4	UTSW	14	57590871	missense	probably damaging	0.98
R2007:Xpo4	UTSW	14	57586644	missense	probably null	0.19
R2035:Xpo4	UTSW	14	57585926	missense	possibly damaging	0.57
R2174:Xpo4	UTSW	14	57590090	missense	probably damaging	1.00
R2421:Xpo4	UTSW	14	57629503	missense	probably benign	0.00
R2937:Xpo4	UTSW	14	57604440	missense	probably benign	0.03
R2938:Xpo4	UTSW	14	57604440	missense	probably benign	0.03
R4066:Xpo4	UTSW	14	57588054	missense	probably benign	0.07
R4086:Xpo4	UTSW	14	57643033	intron	probably benign
R4373:Xpo4	UTSW	14	57591022	nonsense	probably null
R4620:Xpo4	UTSW	14	57630325	missense	probably damaging	1.00
R4703:Xpo4	UTSW	14	57590108	missense	probably benign	0.01
R4755:Xpo4	UTSW	14	57618181	missense	probably benign	0.01
R4831:Xpo4	UTSW	14	57590102	missense	probably damaging	1.00
R4905:Xpo4	UTSW	14	57638289	missense	possibly damaging	0.70
R4943:Xpo4	UTSW	14	57638240	missense	possibly damaging	0.68
R5074:Xpo4	UTSW	14	57584641	missense	probably benign	0.02
R5279:Xpo4	UTSW	14	57613409	missense	probably benign	0.37
R5375:Xpo4	UTSW	14	57638307	missense	probably damaging	0.99
R5690:Xpo4	UTSW	14	57590989	missense	probably benign	0.03
R5936:Xpo4	UTSW	14	57643499	missense	probably benign
R6393:Xpo4	UTSW	14	57638313	missense	probably damaging	1.00
R6824:Xpo4	UTSW	14	57613403	missense	probably damaging	1.00
R6893:Xpo4	UTSW	14	57582310	missense	probably benign
R6923:Xpo4	UTSW	14	57603711	missense	probably benign	0.19
R7028:Xpo4	UTSW	14	57597051	missense	probably benign	0.22
R7442:Xpo4	UTSW	14	57630223	missense	probably benign	0.00
R7469:Xpo4	UTSW	14	57597979	missense	probably benign
R7490:Xpo4	UTSW	14	57602621	frame shift	probably null
R7622:Xpo4	UTSW	14	57597011	missense	possibly damaging	0.94
R7667:Xpo4	UTSW	14	57589959	missense	probably damaging	0.97
R7789:Xpo4	UTSW	14	57613349	missense	probably benign	0.00
R7895:Xpo4	UTSW	14	57602591	missense	probably benign	0.03
R8000:Xpo4	UTSW	14	57589946	missense	probably damaging	1.00
R8372:Xpo4	UTSW	14	57597884	critical splice donor site	probably null
R8395:Xpo4	UTSW	14	57648467	missense	probably benign	0.01
R8420:Xpo4	UTSW	14	57604456	missense	probably damaging	0.99
R8836:Xpo4	UTSW	14	57664910	missense	probably benign	0.03
R8841:Xpo4	UTSW	14	57597956	missense	probably damaging	0.97
R8989:Xpo4	UTSW	14	57591018	missense	probably benign	0.00
R9229:Xpo4	UTSW	14	57613699	missense	probably benign
R9374:Xpo4	UTSW	14	57591055	missense	possibly damaging	0.94
R9551:Xpo4	UTSW	14	57591055	missense	possibly damaging	0.94

Posted On

2015-04-16