Mutagenetix > Incidental Mutation

Incidental Mutation 'R0245:Xpo4'

36194

Institutional Source

Beutler Lab

Gene Symbol

Xpo4

Ensembl Gene

ENSMUSG00000021952

Gene Name

exportin 4

Synonyms

MMRRC Submission

038483-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.677) question?

Stock #

R0245 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57577521-57665430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 57630240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 183 (H183Q)

Ref Sequence

ENSEMBL: ENSMUSP00000086909 (fasta)

Gene Model

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

AlphaFold

Q9ESJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000089482
AA Change: H183Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: H183Q

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 damaging
Transcript: ENSMUST00000174545
AA Change: H183Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: H183Q

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.9%

Validation Efficiency

99% (73/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 124,651,429		probably benign	Het
Adgrg6	T	A	10: 14,458,066		probably benign	Het
Adra2a	G	C	19: 54,047,409	V399L	probably damaging	Het
Arpc1b	A	G	5: 145,126,860	D306G	probably damaging	Het
Asic3	C	A	5: 24,413,838	R43S	probably damaging	Het
Astn2	T	C	4: 65,794,558	D615G	probably damaging	Het
BC024978	T	A	7: 27,200,603	C98S	possibly damaging	Het
Btbd2	A	T	10: 80,647,806	Y178N	probably damaging	Het
Cacna1c	T	C	6: 118,604,454	N1647D	probably benign	Het
Cacna2d4	A	T	6: 119,308,721	D803V	probably damaging	Het
Ccdc129	A	G	6: 55,898,007	E314G	probably damaging	Het
Cdh26	C	T	2: 178,481,632	R675C	possibly damaging	Het
Cdx2	C	A	5: 147,306,473	K170N	possibly damaging	Het
Cmpk2	A	T	12: 26,469,518	D56V	probably benign	Het
Dnah7a	T	C	1: 53,501,526	Y2563C	probably damaging	Het
Dock7	T	C	4: 99,055,349	D552G	possibly damaging	Het
E2f7	C	A	10: 110,774,795	S427*	probably null	Het
Eps8	T	C	6: 137,479,128	D785G	probably benign	Het
Ereg	G	A	5: 91,074,800	C14Y	possibly damaging	Het
Fah	A	C	7: 84,595,498	H222Q	probably benign	Het
Fbxw16	T	A	9: 109,436,168	S432C	possibly damaging	Het
Fdps	A	G	3: 89,093,771	S334P	possibly damaging	Het
Fgf7	A	G	2: 126,035,955	K81E	probably benign	Het
Gfra1	T	C	19: 58,300,554	N153S	possibly damaging	Het
Gm12355	T	A	11: 98,625,241		probably benign	Het
Golga1	A	G	2: 39,035,259	V351A	probably benign	Het
Got1	A	T	19: 43,504,507		probably benign	Het
Greb1	T	C	12: 16,696,456	Y1271C	probably damaging	Het
Gtf3c4	A	G	2: 28,834,964	I252T	possibly damaging	Het
Gucy1a1	A	G	3: 82,108,787	I298T	possibly damaging	Het
Hivep1	A	G	13: 42,164,290	I2081V	possibly damaging	Het
Hps3	A	T	3: 20,012,796	C535*	probably null	Het
Hspg2	T	C	4: 137,514,722	F589S	probably damaging	Het
Itgb8	T	A	12: 119,190,555	N249I	probably damaging	Het
Kdm4a	T	C	4: 118,175,689	D60G	probably benign	Het
Kng2	A	T	16: 23,012,181		probably benign	Het
March4	A	T	1: 72,534,781	D119E	probably benign	Het
Mrpl34	T	C	8: 71,465,075		probably benign	Het
Ncoa6	C	T	2: 155,391,211	G2059D	probably benign	Het
Nhsl1	A	G	10: 18,525,108	K660R	probably damaging	Het
Nr2c2ap	T	C	8: 70,131,578	V6A	possibly damaging	Het
Olfr1209	C	A	2: 88,909,875	D173Y	possibly damaging	Het
Olfr1302	A	G	2: 111,780,335	N5S	probably damaging	Het
Olfr1404	T	A	1: 173,215,957	I102N	possibly damaging	Het
Olfr177	A	T	16: 58,872,866	Y95N	probably benign	Het
Olfr853	C	A	9: 19,537,112	V273L	probably benign	Het
Oscar	C	T	7: 3,611,574		probably benign	Het
Pkhd1	T	C	1: 20,540,400	S1046G	probably benign	Het
Ptk6	T	C	2: 181,202,491	D5G	probably benign	Het
Rgs12	A	G	5: 35,030,080	H486R	probably benign	Het
Rnf111	C	T	9: 70,453,831		probably benign	Het
Rnf17	A	G	14: 56,438,609	Y309C	probably damaging	Het
Rnf19a	A	T	15: 36,253,032	I387N	probably damaging	Het
Safb	C	T	17: 56,606,025	R914C	probably damaging	Het
Sdk1	A	G	5: 141,954,958	T494A	probably benign	Het
Serac1	G	T	17: 6,051,756	D384E	probably damaging	Het
Sez6l	T	C	5: 112,475,566	M40V	probably benign	Het
Slc17a5	A	G	9: 78,540,924	I416T	probably benign	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Spata32	C	T	11: 103,209,095	A195T	probably damaging	Het
Srrd	A	G	5: 112,337,528		probably benign	Het
Supt3	T	C	17: 45,036,775	V208A	probably benign	Het
Taok3	G	A	5: 117,252,679		probably benign	Het
Tbxas1	G	T	6: 39,027,768	R316S	probably benign	Het
Tgfbrap1	A	T	1: 43,075,592	I116N	possibly damaging	Het
Tm7sf3	T	C	6: 146,618,609	T260A	possibly damaging	Het
Top2a	T	C	11: 99,010,096	I556V	probably benign	Het
Uroc1	A	G	6: 90,344,197	M252V	probably damaging	Het
Zcchc17	T	A	4: 130,337,154	I81L	probably benign	Het
Zfp455	A	T	13: 67,207,835	Y389F	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGCGTAAGTCTTCAGGCATAAGC -3'
(R):5'- TGGGTTCCAGTCCTCCTAATGTCAG -3'

Sequencing Primer
(F):5'- GTCTTCAGGCATAAGCTACCAC -3'
(R):5'- GGAGAGCCAGTCTTCTTAGTCAC -3'

Posted On

2013-05-09