Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02537:Xpo4'

297554

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 #

IGL02537

Quality Score

Status

Chromosome

Chromosomal Location

57577521-57665430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57593833 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 773 (T773A)

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: T773A

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

SMART Domains

Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: T773A

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: T773A

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

SMART Domains

Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: T773A

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,229,377	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,229,382	P402L	probably damaging	Het
Alx3	T	A	3: 107,604,859	M271K	possibly damaging	Het
Ank2	T	C	3: 126,955,916	E488G	probably damaging	Het
Arsk	T	A	13: 76,074,906	R191*	probably null	Het
B230217C12Rik	T	C	11: 97,842,185	S111P	possibly damaging	Het
Bckdhb	A	G	9: 83,989,141	I158V	probably benign	Het
Bub1	G	A	2: 127,801,347	Q1026*	probably null	Het
C8a	A	G	4: 104,845,951	M303T	probably damaging	Het
Cftr	A	G	6: 18,274,597	T905A	probably benign	Het
Col14a1	A	T	15: 55,344,914	K132*	probably null	Het
Depdc5	T	A	5: 32,967,787	L531Q	probably damaging	Het
Dzip1	G	A	14: 118,909,576		probably benign	Het
F5	C	A	1: 164,193,117	L1054I	probably benign	Het
Gm4353	A	T	7: 116,083,752	I198N	probably damaging	Het
Il1a	T	A	2: 129,309,076	E9V	probably damaging	Het
Kif15	A	G	9: 122,993,849	T432A	probably benign	Het
Kndc1	T	C	7: 139,910,410	V276A	probably benign	Het
Mrvi1	A	T	7: 110,871,473	Y678*	probably null	Het
Narfl	C	T	17: 25,778,942		probably benign	Het
Olfr1247	A	C	2: 89,609,395	S236A	possibly damaging	Het
Olfr170	A	T	16: 19,605,799	Y290N	probably damaging	Het
Olfr430	A	T	1: 174,069,454	D52V	possibly damaging	Het
Palld	T	C	8: 61,684,934	S596G	probably benign	Het
Pdc	A	T	1: 150,333,009	D81V	possibly damaging	Het
Plcd4	A	G	1: 74,556,050	K361R	possibly damaging	Het
Plekhm1	T	A	11: 103,397,192	D43V	probably damaging	Het
Prpf31	G	T	7: 3,638,751	G356C	probably damaging	Het
Rbpj	T	A	5: 53,642,143	I100K	probably damaging	Het
Rufy3	A	G	5: 88,640,662		probably benign	Het
Slc40a1	C	T	1: 45,911,393	V300I	probably benign	Het
Slc6a12	A	T	6: 121,360,514	I386F	probably benign	Het
Strip1	C	T	3: 107,616,894	R569H	possibly damaging	Het
Tep1	A	T	14: 50,836,113	D1996E	probably damaging	Het
Tmem68	A	G	4: 3,569,649	S14P	possibly damaging	Het
Trav12-1	C	A	14: 53,538,523	C44*	probably null	Het
Uba1	G	A	X: 20,678,663	R693H	possibly damaging	Het
Ugt2b38	T	C	5: 87,421,731	T246A	possibly damaging	Het
Usp24	A	G	4: 106,392,367	Y1427C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,288	Y558F	probably damaging	Het
Wdr54	A	G	6: 83,153,391	W221R	possibly damaging	Het
Zfp518a	T	A	19: 40,915,430	S1268T	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Znfx1	T	C	2: 167,056,167	D279G	probably benign	Het

Other mutations in Xpo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01944:Xpo4	APN	14	57604398	missense	probably benign
IGL02554:Xpo4	APN	14	57590088	missense	probably benign	0.00
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
R9628:Xpo4	UTSW	14	57605173	missense	probably damaging	1.00

Posted On

2015-04-16