Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03071:Xpo4'

417513

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xpo4

Ensembl Gene

ENSMUSG00000021952

Gene Name

exportin 4

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.677) question?

Stock #

IGL03071

Quality Score

Status

Chromosome

Chromosomal Location

57577521-57665430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57618228 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 248 (I248T)

Ref Sequence

ENSEMBL: ENSMUSP00000133280 (fasta)

Gene Model

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

AlphaFold

Q9ESJ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089482
AA Change: I248T

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: I248T

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

possibly damaging
Transcript: ENSMUST00000174545
AA Change: I248T

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: I248T

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	A	8: 40,825,067	L165H	probably benign	Het
Ahnak	T	C	19: 9,011,918	I3522T	possibly damaging	Het
Anks1	G	A	17: 28,008,199	A609T	probably benign	Het
Apaf1	T	C	10: 90,997,255	D1138G	possibly damaging	Het
Appl2	T	C	10: 83,641,106		probably null	Het
Arhgef19	A	T	4: 141,249,002	I385F	possibly damaging	Het
Cby3	A	G	11: 50,359,516	D183G	probably damaging	Het
Ccdc134	G	A	15: 82,134,625	V119M	possibly damaging	Het
Ccdc180	G	T	4: 45,903,840		probably benign	Het
Clec2d	T	C	6: 129,183,202	S60P	probably benign	Het
Cts6	A	T	13: 61,202,250	F6I	probably damaging	Het
Cyyr1	G	A	16: 85,465,561	H103Y	probably damaging	Het
Dopey1	T	A	9: 86,489,615	S120T	possibly damaging	Het
Dot1l	T	C	10: 80,788,679	S994P	probably benign	Het
Eya4	T	G	10: 23,323,073	D3A	probably benign	Het
Fam160b2	A	G	14: 70,586,209	C574R	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gria1	A	T	11: 57,012,110		probably null	Het
Hectd1	T	C	12: 51,769,174	T1377A	probably benign	Het
Magi3	T	G	3: 104,015,886	K1172Q	possibly damaging	Het
Map3k1	A	C	13: 111,755,525	D1065E	possibly damaging	Het
Mindy4b-ps	A	T	3: 58,809,737	V242D	probably damaging	Het
Mrgpra3	T	C	7: 47,589,181		probably benign	Het
Mroh9	C	A	1: 163,039,197	G657C	probably damaging	Het
Ogfod1	T	C	8: 94,057,767	W318R	probably damaging	Het
Olfr16	A	G	1: 172,956,935	T47A	probably benign	Het
Pacsin3	G	A	2: 91,260,492	R48H	probably damaging	Het
Plcb1	A	G	2: 135,387,802	E1114G	probably damaging	Het
Prkdc	T	G	16: 15,799,984	D3226E	probably benign	Het
Prl4a1	A	T	13: 28,020,263	E96V	probably benign	Het
Robo4	T	C	9: 37,404,284		probably benign	Het
Scn7a	G	A	2: 66,699,947	L685F	possibly damaging	Het
Spata1	A	G	3: 146,475,334	Y290H	possibly damaging	Het
Tex10	T	C	4: 48,452,946	D671G	probably benign	Het
Tifa	T	G	3: 127,797,079	Y166*	probably null	Het
Tnfsf10	G	A	3: 27,335,620	D277N	probably damaging	Het
Tram1	A	T	1: 13,579,774	Y75*	probably null	Het
Vmn1r60	T	A	7: 5,544,369	N244I	probably damaging	Het
Zc2hc1a	A	G	3: 7,524,122		probably benign	Het
Zfp386	T	A	12: 116,059,140	H124Q	probably benign	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
IGL02554:Xpo4	APN	14	57590088	missense	probably benign	0.00
IGL02826:Xpo4	APN	14	57629420	missense	possibly damaging	0.50
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
R9628:Xpo4	UTSW	14	57605173	missense	probably damaging	1.00

Posted On

2016-08-02