Mutagenetix > Incidental Mutation

Incidental Mutation 'R7469:Xpo4'

579062

Institutional Source

Beutler Lab

Gene Symbol

Xpo4

Ensembl Gene

ENSMUSG00000021952

Gene Name

exportin 4

Synonyms

B430309A01Rik

MMRRC Submission

045543-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.722) question?

Stock #

R7469 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57814978-57902887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57835436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 628 (H628Q)

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: H628Q

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

SMART Domains

Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: H628Q

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: H628Q

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

SMART Domains

Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: H628Q

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (77/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,259,014 (GRCm39)	L443P	probably damaging	Het
Abtb2	T	C	2: 103,397,292 (GRCm39)	V74A	probably benign	Het
Adam5	A	T	8: 25,305,541 (GRCm39)	F66I	probably benign	Het
Aff1	T	A	5: 103,981,413 (GRCm39)	D517E	probably benign	Het
Agbl3	A	G	6: 34,791,349 (GRCm39)	K559R	probably damaging	Het
Aldh1l2	A	C	10: 83,343,969 (GRCm39)	V482G	probably damaging	Het
Ankra2	C	T	13: 98,402,882 (GRCm39)	A43V	probably benign	Het
Ankrd50	C	A	3: 38,508,342 (GRCm39)	V419F	probably damaging	Het
Arhgef16	G	A	4: 154,375,763 (GRCm39)	T77M	probably damaging	Het
Best3	T	C	10: 116,840,290 (GRCm39)	V240A	probably damaging	Het
Btbd7	T	C	12: 102,779,027 (GRCm39)	Y413C	probably damaging	Het
Bzw2	A	T	12: 36,157,550 (GRCm39)	V305E	probably damaging	Het
Cacng8	G	A	7: 3,463,621 (GRCm39)	A258T	possibly damaging	Het
Cfap157	T	C	2: 32,670,696 (GRCm39)	Y184C	probably damaging	Het
Chmp3	T	A	6: 71,556,652 (GRCm39)	V184E	possibly damaging	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Ctdspl2	A	T	2: 121,837,362 (GRCm39)	E376D	possibly damaging	Het
Cyfip1	A	G	7: 55,527,468 (GRCm39)	D200G	possibly damaging	Het
Cylc2	T	A	4: 51,227,970 (GRCm39)		probably null	Het
Cyp2c66	T	A	19: 39,172,307 (GRCm39)	F407L	probably damaging	Het
Dcp2	T	C	18: 44,529,019 (GRCm39)	F45L	probably damaging	Het
Dhx34	C	T	7: 15,950,364 (GRCm39)	R268H	probably benign	Het
Dnajc7	A	T	11: 100,482,377 (GRCm39)	M205K	probably benign	Het
Dzip3	C	T	16: 48,765,242 (GRCm39)	V491M	probably benign	Het
Farp1	T	C	14: 121,512,833 (GRCm39)	L777P	probably damaging	Het
Fchsd2	T	G	7: 100,927,863 (GRCm39)		probably null	Het
Fer1l6	A	T	15: 58,462,419 (GRCm39)		probably null	Het
Fhip1a	T	C	3: 85,580,069 (GRCm39)	D712G	probably benign	Het
Fitm2	A	G	2: 163,311,742 (GRCm39)	F157S	probably damaging	Het
Flt1	G	T	5: 147,540,379 (GRCm39)	A770E	probably damaging	Het
Flt3	T	A	5: 147,268,084 (GRCm39)	E967V	probably benign	Het
Foxc1	G	C	13: 31,992,361 (GRCm39)	A391P	unknown	Het
Foxc1	C	T	13: 31,992,362 (GRCm39)	A391V	unknown	Het
Gimap6	T	A	6: 48,679,392 (GRCm39)	T215S	probably benign	Het
Gm2431	A	T	7: 141,811,518 (GRCm39)	C129S	unknown	Het
Itpr3	T	C	17: 27,340,028 (GRCm39)	S2636P	possibly damaging	Het
Lsg1	A	G	16: 30,380,635 (GRCm39)	Y601H	probably benign	Het
Map4	G	T	9: 109,856,865 (GRCm39)		probably null	Het
Mga	T	C	2: 119,733,527 (GRCm39)	M125T	probably damaging	Het
Mxi1	A	G	19: 53,360,091 (GRCm39)	D271G	probably damaging	Het
Ndst3	T	A	3: 123,465,310 (GRCm39)	T221S	possibly damaging	Het
Neto1	T	A	18: 86,516,813 (GRCm39)	S377T	probably benign	Het
Nkx6-2	T	C	7: 139,161,555 (GRCm39)	E210G	probably damaging	Het
Nos2	G	T	11: 78,843,797 (GRCm39)	V915F	possibly damaging	Het
Nrros	G	A	16: 31,963,030 (GRCm39)	A329V	probably benign	Het
Numb	T	C	12: 83,850,578 (GRCm39)	K211E	probably benign	Het
Nup210	T	A	6: 90,995,874 (GRCm39)	I1671F	probably benign	Het
Or12j3	G	A	7: 139,953,050 (GRCm39)	L158F	possibly damaging	Het
Or4c106	T	A	2: 88,682,847 (GRCm39)	D184E	probably benign	Het
Or4c31	T	A	2: 88,291,691 (GRCm39)	H2Q	probably benign	Het
Pcdh15	A	T	10: 74,481,812 (GRCm39)	M386L	probably benign	Het
Pcdhb3	C	A	18: 37,434,388 (GRCm39)	T118K	probably benign	Het
Pcdhb8	A	T	18: 37,489,011 (GRCm39)	I230F	probably damaging	Het
Peli2	G	A	14: 48,488,015 (GRCm39)	V120I	probably benign	Het
Pramel15	T	A	4: 144,099,673 (GRCm39)	Q364L	probably damaging	Het
Pramel7	T	A	2: 87,321,748 (GRCm39)	M96L	probably benign	Het
Prex2	T	A	1: 11,355,293 (GRCm39)	S1531R	probably damaging	Het
Prpf31	A	G	7: 3,636,392 (GRCm39)	T138A	possibly damaging	Het
Psme4	C	T	11: 30,752,837 (GRCm39)	T175I	probably benign	Het
Rasgrf2	A	G	13: 92,165,530 (GRCm39)		probably null	Het
Rps19	T	A	7: 24,589,190 (GRCm39)	*146K	probably null	Het
Rsu1	T	C	2: 13,082,371 (GRCm39)	N260S	probably benign	Het
Serpina3k	T	C	12: 104,311,594 (GRCm39)	C391R	not run	Het
Sipa1l1	T	G	12: 82,467,438 (GRCm39)		probably null	Het
Snd1	T	A	6: 28,626,126 (GRCm39)	Y394N	probably damaging	Het
Spaca4	A	T	7: 45,374,831 (GRCm39)	V57E	probably damaging	Het
Spata31d1b	A	G	13: 59,863,278 (GRCm39)	Y142C	probably benign	Het
Sptbn2	A	G	19: 4,795,146 (GRCm39)	K1535E	probably benign	Het
Srcin1	A	G	11: 97,425,435 (GRCm39)	S541P	probably damaging	Het
Tc2n	A	T	12: 101,631,934 (GRCm39)	F308I	probably damaging	Het
Tdrd5	T	C	1: 156,090,475 (GRCm39)	D857G	probably benign	Het
Timm22	A	G	11: 76,298,134 (GRCm39)	D35G	probably benign	Het
Tram1l1	C	A	3: 124,114,889 (GRCm39)	H16Q	probably benign	Het
Uggt1	T	C	1: 36,190,814 (GRCm39)	Y1382C	probably damaging	Het
Usp32	G	T	11: 84,879,379 (GRCm39)	D1443E	possibly damaging	Het
Uty	A	T	Y: 1,131,072 (GRCm39)	C1046S	possibly damaging	Het
Wdr31	T	A	4: 62,375,768 (GRCm39)	Q230L	probably damaging	Het
Wnt8b	C	A	19: 44,500,001 (GRCm39)	T196K	possibly damaging	Het
Zfp780b	C	T	7: 27,663,382 (GRCm39)	S391N	probably benign	Het

Other mutations in Xpo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01944:Xpo4	APN	14	57,841,855 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCATGTGAGGCCCTTAATCC -3'
(R):5'- GGACAACCCCACTGATGAAATTTTC -3'

Sequencing Primer
(F):5'- GCTATGGCTGTCCTAGAACTCAATG -3'
(R):5'- CTGATGAAATTTTCACACAGCCTGG -3'

Posted On

2019-10-07