Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01944:Xpo4'

181192

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xpo4

Ensembl Gene

ENSMUSG00000021952

Gene Name

exportin 4

Synonyms

B430309A01Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.722) question?

Stock #

IGL01944

Quality Score

Status

Chromosome

Chromosomal Location

57814978-57902887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57841855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 487 (I487V)

Ref Sequence

ENSEMBL: ENSMUSP00000133280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089482] [ENSMUST00000174152] [ENSMUST00000174545]

AlphaFold

Q9ESJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000089482
AA Change: I487V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: I487V

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: ENSMUST00000174152

Predicted Effect

probably benign
Transcript: ENSMUST00000174545
AA Change: I487V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: I487V

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	T	A	5: 135,040,230 (GRCm39)	V202D	probably damaging	Het
Afdn	A	G	17: 14,030,743 (GRCm39)	N218S	probably damaging	Het
Arhgef1	G	A	7: 24,625,208 (GRCm39)		probably null	Het
Atp1a2	G	T	1: 172,103,754 (GRCm39)	T959K	probably damaging	Het
Atp6v0a2	A	G	5: 124,774,043 (GRCm39)	E96G	probably benign	Het
B9d1	A	T	11: 61,403,205 (GRCm39)	M52L	probably benign	Het
Col6a6	T	A	9: 105,661,108 (GRCm39)	I334F	probably damaging	Het
Drd3	T	C	16: 43,638,671 (GRCm39)	F259L	probably benign	Het
Drosha	T	G	15: 12,889,805 (GRCm39)	L891R	probably damaging	Het
Ecpas	G	T	4: 58,861,544 (GRCm39)	T345K	probably benign	Het
Garin5b	T	C	7: 4,773,694 (GRCm39)	N67S	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Greb1l	T	C	18: 10,557,280 (GRCm39)	V1760A	possibly damaging	Het
Il36b	T	A	2: 24,045,291 (GRCm39)	W48R	probably damaging	Het
Ipo9	C	A	1: 135,333,624 (GRCm39)	V353F	probably damaging	Het
Kmt2a	A	T	9: 44,761,064 (GRCm39)	F126I	probably damaging	Het
Mmrn1	T	C	6: 60,948,167 (GRCm39)		probably null	Het
Nup214	T	A	2: 31,924,971 (GRCm39)	C328*	probably null	Het
Or9g19	A	G	2: 85,600,384 (GRCm39)	I80V	probably damaging	Het
Pcdh17	G	T	14: 84,684,960 (GRCm39)	V476L	probably benign	Het
Pcdh17	T	A	14: 84,684,961 (GRCm39)	V476E	probably damaging	Het
Prpf38b	A	T	3: 108,811,991 (GRCm39)	S291R	probably benign	Het
Rap1gap	T	C	4: 137,452,931 (GRCm39)	S601P	probably damaging	Het
Rnf213	T	C	11: 119,307,283 (GRCm39)	Y648H	probably benign	Het
Slfn3	A	G	11: 83,103,974 (GRCm39)	T282A	possibly damaging	Het
Ttll3	C	T	6: 113,391,076 (GRCm39)	T887I	probably benign	Het
Vmn1r197	A	G	13: 22,512,508 (GRCm39)	N143S	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Xpo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02537:Xpo4	APN	14	57,831,290 (GRCm39)	missense	probably benign
IGL02554:Xpo4	APN	14	57,827,545 (GRCm39)	missense	probably benign	0.00
IGL02826:Xpo4	APN	14	57,866,877 (GRCm39)	missense	possibly damaging	0.50
IGL03071:Xpo4	APN	14	57,855,685 (GRCm39)	missense	possibly damaging	0.66
PIT4131001:Xpo4	UTSW	14	57,822,068 (GRCm39)	missense	probably null	0.98
R0245:Xpo4	UTSW	14	57,867,697 (GRCm39)	missense	probably damaging	1.00
R0546:Xpo4	UTSW	14	57,850,731 (GRCm39)	missense	probably benign	0.07
R0606:Xpo4	UTSW	14	57,875,665 (GRCm39)	unclassified	probably benign
R0761:Xpo4	UTSW	14	57,850,840 (GRCm39)	missense	probably damaging	0.99
R1775:Xpo4	UTSW	14	57,841,129 (GRCm39)	missense	probably benign
R1853:Xpo4	UTSW	14	57,823,364 (GRCm39)	missense	possibly damaging	0.72
R1923:Xpo4	UTSW	14	57,828,328 (GRCm39)	missense	probably damaging	0.98
R2007:Xpo4	UTSW	14	57,824,101 (GRCm39)	missense	probably null	0.19
R2035:Xpo4	UTSW	14	57,823,383 (GRCm39)	missense	possibly damaging	0.57
R2174:Xpo4	UTSW	14	57,827,547 (GRCm39)	missense	probably damaging	1.00
R2421:Xpo4	UTSW	14	57,866,960 (GRCm39)	missense	probably benign	0.00
R2937:Xpo4	UTSW	14	57,841,897 (GRCm39)	missense	probably benign	0.03
R2938:Xpo4	UTSW	14	57,841,897 (GRCm39)	missense	probably benign	0.03
R4066:Xpo4	UTSW	14	57,825,511 (GRCm39)	missense	probably benign	0.07
R4086:Xpo4	UTSW	14	57,880,490 (GRCm39)	intron	probably benign
R4373:Xpo4	UTSW	14	57,828,479 (GRCm39)	nonsense	probably null
R4620:Xpo4	UTSW	14	57,867,782 (GRCm39)	missense	probably damaging	1.00
R4703:Xpo4	UTSW	14	57,827,565 (GRCm39)	missense	probably benign	0.01
R4755:Xpo4	UTSW	14	57,855,638 (GRCm39)	missense	probably benign	0.01
R4831:Xpo4	UTSW	14	57,827,559 (GRCm39)	missense	probably damaging	1.00
R4905:Xpo4	UTSW	14	57,875,746 (GRCm39)	missense	possibly damaging	0.70
R4943:Xpo4	UTSW	14	57,875,697 (GRCm39)	missense	possibly damaging	0.68
R5074:Xpo4	UTSW	14	57,822,098 (GRCm39)	missense	probably benign	0.02
R5279:Xpo4	UTSW	14	57,850,866 (GRCm39)	missense	probably benign	0.37
R5375:Xpo4	UTSW	14	57,875,764 (GRCm39)	missense	probably damaging	0.99
R5690:Xpo4	UTSW	14	57,828,446 (GRCm39)	missense	probably benign	0.03
R5936:Xpo4	UTSW	14	57,880,956 (GRCm39)	missense	probably benign
R6393:Xpo4	UTSW	14	57,875,770 (GRCm39)	missense	probably damaging	1.00
R6824:Xpo4	UTSW	14	57,850,860 (GRCm39)	missense	probably damaging	1.00
R6893:Xpo4	UTSW	14	57,819,767 (GRCm39)	missense	probably benign
R6923:Xpo4	UTSW	14	57,841,168 (GRCm39)	missense	probably benign	0.19
R7028:Xpo4	UTSW	14	57,834,508 (GRCm39)	missense	probably benign	0.22
R7442:Xpo4	UTSW	14	57,867,680 (GRCm39)	missense	probably benign	0.00
R7469:Xpo4	UTSW	14	57,835,436 (GRCm39)	missense	probably benign
R7490:Xpo4	UTSW	14	57,840,078 (GRCm39)	frame shift	probably null
R7622:Xpo4	UTSW	14	57,834,468 (GRCm39)	missense	possibly damaging	0.94
R7667:Xpo4	UTSW	14	57,827,416 (GRCm39)	missense	probably damaging	0.97
R7789:Xpo4	UTSW	14	57,850,806 (GRCm39)	missense	probably benign	0.00
R7895:Xpo4	UTSW	14	57,840,048 (GRCm39)	missense	probably benign	0.03
R8000:Xpo4	UTSW	14	57,827,403 (GRCm39)	missense	probably damaging	1.00
R8372:Xpo4	UTSW	14	57,835,341 (GRCm39)	critical splice donor site	probably null
R8395:Xpo4	UTSW	14	57,885,924 (GRCm39)	missense	probably benign	0.01
R8420:Xpo4	UTSW	14	57,841,913 (GRCm39)	missense	probably damaging	0.99
R8836:Xpo4	UTSW	14	57,902,367 (GRCm39)	missense	probably benign	0.03
R8841:Xpo4	UTSW	14	57,835,413 (GRCm39)	missense	probably damaging	0.97
R8989:Xpo4	UTSW	14	57,828,475 (GRCm39)	missense	probably benign	0.00
R9229:Xpo4	UTSW	14	57,851,156 (GRCm39)	missense	probably benign
R9374:Xpo4	UTSW	14	57,828,512 (GRCm39)	missense	possibly damaging	0.94
R9551:Xpo4	UTSW	14	57,828,512 (GRCm39)	missense	possibly damaging	0.94
R9628:Xpo4	UTSW	14	57,842,630 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07