Mutagenetix > Incidental Mutation

Incidental Mutation 'R7469:Xpo4'

579062

Institutional Source

Beutler Lab

Gene Symbol

Xpo4

Ensembl Gene

ENSMUSG00000021952

Gene Name

exportin 4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.869) question?

Stock #

R7469 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57577521-57665430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57597979 bp (GRCm38)

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: 94,368,188	L443P	probably damaging	Het
Abtb2	T	C	2: 103,566,947	V74A	probably benign	Het
Adam5	A	T	8: 24,815,525	F66I	probably benign	Het
Aff1	T	A	5: 103,833,547	D517E	probably benign	Het
Agbl3	A	G	6: 34,814,414	K559R	probably damaging	Het
Aldh1l2	A	C	10: 83,508,105	V482G	probably damaging	Het
Ankra2	C	T	13: 98,266,374	A43V	probably benign	Het
Ankrd50	C	A	3: 38,454,193	V419F	probably damaging	Het
Arhgef16	G	A	4: 154,291,306	T77M	probably damaging	Het
Best3	T	C	10: 117,004,385	V240A	probably damaging	Het
Btbd7	T	C	12: 102,812,768	Y413C	probably damaging	Het
Bzw2	A	T	12: 36,107,551	V305E	probably damaging	Het
Cacng8	G	A	7: 3,415,105	A258T	possibly damaging	Het
Cfap157	T	C	2: 32,780,684	Y184C	probably damaging	Het
Chmp3	T	A	6: 71,579,668	V184E	possibly damaging	Het
Cst10	C	T	2: 149,405,576	L71F	probably benign	Het
Ctdspl2	A	T	2: 122,006,881	E376D	possibly damaging	Het
Cyfip1	A	G	7: 55,877,720	D200G	possibly damaging	Het
Cylc2	T	A	4: 51,227,970		probably null	Het
Cyp2c66	T	A	19: 39,183,863	F407L	probably damaging	Het
Dcp2	T	C	18: 44,395,952	F45L	probably damaging	Het
Dhx34	C	T	7: 16,216,439	R268H	probably benign	Het
Dnajc7	A	T	11: 100,591,551	M205K	probably benign	Het
Dzip3	C	T	16: 48,944,879	V491M	probably benign	Het
Fam160a1	T	C	3: 85,672,762	D712G	probably benign	Het
Farp1	T	C	14: 121,275,421	L777P	probably damaging	Het
Fchsd2	T	G	7: 101,278,656		probably null	Het
Fer1l6	A	T	15: 58,590,570		probably null	Het
Fitm2	A	G	2: 163,469,822	F157S	probably damaging	Het
Flt1	G	T	5: 147,603,569	A770E	probably damaging	Het
Flt3	T	A	5: 147,331,274	E967V	probably benign	Het
Foxc1	G	C	13: 31,808,378	A391P	unknown	Het
Foxc1	C	T	13: 31,808,379	A391V	unknown	Het
Gimap6	T	A	6: 48,702,458	T215S	probably benign	Het
Gm2431	A	T	7: 142,257,781	C129S	unknown	Het
Itpr3	T	C	17: 27,121,054	S2636P	possibly damaging	Het
Lsg1	A	G	16: 30,561,817	Y601H	probably benign	Het
Map4	G	T	9: 110,027,797		probably null	Het
Mga	T	C	2: 119,903,046	M125T	probably damaging	Het
Mxi1	A	G	19: 53,371,660	D271G	probably damaging	Het
Ndst3	T	A	3: 123,671,661	T221S	possibly damaging	Het
Neto1	T	A	18: 86,498,688	S377T	probably benign	Het
Nkx6-2	T	C	7: 139,581,639	E210G	probably damaging	Het
Nos2	G	T	11: 78,952,971	V915F	possibly damaging	Het
Nrros	G	A	16: 32,144,212	A329V	probably benign	Het
Numb	T	C	12: 83,803,804	K211E	probably benign	Het
Nup210	T	A	6: 91,018,892	I1671F	probably benign	Het
Olfr1183	T	A	2: 88,461,347	H2Q	probably benign	Het
Olfr1204	T	A	2: 88,852,503	D184E	probably benign	Het
Olfr530	G	A	7: 140,373,137	L158F	possibly damaging	Het
Pcdh15	A	T	10: 74,645,980	M386L	probably benign	Het
Pcdhb3	C	A	18: 37,301,335	T118K	probably benign	Het
Pcdhb8	A	T	18: 37,355,958	I230F	probably damaging	Het
Peli2	G	A	14: 48,250,558	V120I	probably benign	Het
Pramef20	T	A	4: 144,373,103	Q364L	probably damaging	Het
Pramel7	T	A	2: 87,491,404	M96L	probably benign	Het
Prex2	T	A	1: 11,285,069	S1531R	probably damaging	Het
Prpf31	A	G	7: 3,633,393	T138A	possibly damaging	Het
Psme4	C	T	11: 30,802,837	T175I	probably benign	Het
Rasgrf2	A	G	13: 92,029,022		probably null	Het
Rps19	T	A	7: 24,889,765	*146K	probably null	Het
Rsu1	T	C	2: 13,077,560	N260S	probably benign	Het
Serpina3k	T	C	12: 104,345,335	C391R	not run	Het
Sipa1l1	T	G	12: 82,420,664		probably null	Het
Snd1	T	A	6: 28,626,127	Y394N	probably damaging	Het
Spaca4	A	T	7: 45,725,407	V57E	probably damaging	Het
Spata31d1b	A	G	13: 59,715,464	Y142C	probably benign	Het
Sptbn2	A	G	19: 4,745,118	K1535E	probably benign	Het
Srcin1	A	G	11: 97,534,609	S541P	probably damaging	Het
Tc2n	A	T	12: 101,665,675	F308I	probably damaging	Het
Tdrd5	T	C	1: 156,262,905	D857G	probably benign	Het
Timm22	A	G	11: 76,407,308	D35G	probably benign	Het
Tram1l1	C	A	3: 124,321,240	H16Q	probably benign	Het
Uggt1	T	C	1: 36,151,733	Y1382C	probably damaging	Het
Usp32	G	T	11: 84,988,553	D1443E	possibly damaging	Het
Uty	A	T	Y: 1,131,072	C1046S	possibly damaging	Het
Wdr31	T	A	4: 62,457,531	Q230L	probably damaging	Het
Wnt8b	C	A	19: 44,511,562	T196K	possibly damaging	Het
Zfp780b	C	T	7: 27,963,957	S391N	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
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
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'- GCATGTGAGGCCCTTAATCC -3'
(R):5'- GGACAACCCCACTGATGAAATTTTC -3'

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

Posted On

2019-10-07