Mutagenetix > Incidental Mutation

Incidental Mutation 'R7490:Xpo4'

580707

Institutional Source

Beutler Lab

Gene Symbol

Xpo4

Ensembl Gene

ENSMUSG00000021952

Gene Name

exportin 4

Synonyms

B430309A01Rik

MMRRC Submission

045564-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.722) question?

Stock #

R7490 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

57814978-57902887 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GGTATTAGCGGAGT to GGT at 57840078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133280 (fasta)

Gene Model

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

AlphaFold

Q9ESJ0

Predicted Effect

probably null
Transcript: ENSMUST00000089482

SMART Domains

Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952

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 null
Transcript: ENSMUST00000174545

SMART Domains

Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952

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: 99.9%
10x: 99.6%
20x: 98.8%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,202,389 (GRCm39)	D132G	possibly damaging	Het
Abca5	T	C	11: 110,168,437 (GRCm39)	E1424G	possibly damaging	Het
Adamts4	C	T	1: 171,084,169 (GRCm39)	Q549*	probably null	Het
Adcy4	A	G	14: 56,007,890 (GRCm39)	I893T	possibly damaging	Het
Ago1	A	T	4: 126,333,298 (GRCm39)	*858R	probably null	Het
Ank2	T	A	3: 126,752,538 (GRCm39)	I393L	probably damaging	Het
Ankrd44	T	C	1: 54,687,459 (GRCm39)	T987A	probably benign	Het
Ap2a1	G	T	7: 44,552,213 (GRCm39)	N790K	probably benign	Het
Aqr	A	G	2: 113,989,349 (GRCm39)		probably null	Het
Arel1	G	T	12: 84,988,685 (GRCm39)	F21L	probably damaging	Het
Atp1a3	T	C	7: 24,686,895 (GRCm39)	D743G	probably damaging	Het
Atp9a	A	T	2: 168,517,272 (GRCm39)	F354I	probably benign	Het
Bag6	A	G	17: 35,359,818 (GRCm39)	H259R	unknown	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TGGTT	TGGTTCTGTGGTCACGGGTT	3: 95,795,498 (GRCm39)		probably benign	Het
BC028528	GTCACTGGTTCTGTG	GTCACTGGTTCTGTGTTCACTGGTTCTGTG	3: 95,795,478 (GRCm39)		probably benign	Het
Bckdk	T	A	7: 127,504,145 (GRCm39)	S15T	unknown	Het
C4b	G	T	17: 34,950,054 (GRCm39)	Y1405*	probably null	Het
Camk4	G	A	18: 33,072,598 (GRCm39)		probably null	Het
Car11	T	A	7: 45,349,742 (GRCm39)	W16R	probably benign	Het
Ccdc80	A	C	16: 44,916,763 (GRCm39)	E506D	probably damaging	Het
Chmp6	C	T	11: 119,806,269 (GRCm39)	Q32*	probably null	Het
Colq	G	A	14: 31,267,043 (GRCm39)	P166S	possibly damaging	Het
Ctxn3	T	C	18: 57,610,357 (GRCm39)	M58T	probably damaging	Het
Cxcl3	A	T	5: 90,934,516 (GRCm39)	I93L	unknown	Het
Dnaaf2	T	C	12: 69,244,380 (GRCm39)	Y227C	probably damaging	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dnmt3a	G	A	12: 3,954,204 (GRCm39)	G792D	probably damaging	Het
Dsg4	T	A	18: 20,584,993 (GRCm39)		probably null	Het
Ecm2	C	T	13: 49,683,818 (GRCm39)	Q599*	probably null	Het
Fbxl13	T	A	5: 21,728,058 (GRCm39)	R550*	probably null	Het
Gm4302	A	T	10: 100,177,445 (GRCm39)	Q243L	unknown	Het
Gm7168	A	T	17: 14,169,275 (GRCm39)	Y214F	probably benign	Het
Gtf3c1	C	T	7: 125,246,663 (GRCm39)	D1549N	probably damaging	Het
Gtf3c5	A	T	2: 28,461,153 (GRCm39)	D320E	probably damaging	Het
Hivep1	T	A	13: 42,311,126 (GRCm39)	V1122D	probably damaging	Het
Ibtk	T	C	9: 85,600,987 (GRCm39)		probably null	Het
Irs1	T	A	1: 82,264,985 (GRCm39)	Q1077L	probably damaging	Het
Ivd	A	T	2: 118,707,373 (GRCm39)	M296L	possibly damaging	Het
Katnal1	T	C	5: 148,828,492 (GRCm39)	D318G	probably null	Het
L3mbtl3	C	T	10: 26,215,129 (GRCm39)	V194I	unknown	Het
Malt1	C	A	18: 65,581,282 (GRCm39)	Q237K	probably benign	Het
Marchf11	C	T	15: 26,311,187 (GRCm39)	A221V	possibly damaging	Het
Nfe2l3	A	G	6: 51,434,524 (GRCm39)	I361M	possibly damaging	Het
Nrg1	G	A	8: 32,308,682 (GRCm39)	R493C	probably damaging	Het
Oga	G	A	19: 45,755,886 (GRCm39)	R586*	probably null	Het
Or10g9b	T	A	9: 39,917,720 (GRCm39)	H175L	probably damaging	Het
Or2f1	T	C	6: 42,721,739 (GRCm39)	I256T	probably damaging	Het
Or4c107	A	C	2: 88,789,392 (GRCm39)	Y194S	probably benign	Het
Or51g2	G	A	7: 102,623,017 (GRCm39)	P61S	probably damaging	Het
Or5ar1	A	T	2: 85,671,307 (GRCm39)	V276E	probably damaging	Het
Or7g16	A	T	9: 18,727,229 (GRCm39)	Y120*	probably null	Het
Orai3	C	T	7: 127,372,799 (GRCm39)	A100V	possibly damaging	Het
Oxsm	T	A	14: 16,241,066 (GRCm38)	M328L	probably benign	Het
Pan2	T	C	10: 128,144,309 (GRCm39)	V186A	probably benign	Het
Pkd1l1	T	A	11: 8,866,265 (GRCm39)	D980V		Het
Ppp1r16b	T	C	2: 158,603,388 (GRCm39)	Y438H	probably damaging	Het
Ppp4c	A	T	7: 126,386,504 (GRCm39)	H164Q	probably damaging	Het
Prl8a2	C	A	13: 27,536,753 (GRCm39)	T125K	possibly damaging	Het
Rasa2	T	C	9: 96,448,175 (GRCm39)	N494S	possibly damaging	Het
Rpl18a	T	C	8: 71,348,150 (GRCm39)	D147G	probably benign	Het
Scg3	T	C	9: 75,576,559 (GRCm39)	D272G	possibly damaging	Het
Serpinb6c	T	A	13: 34,077,818 (GRCm39)	D184V	probably benign	Het
Simc1	T	G	13: 54,672,162 (GRCm39)	L170R	possibly damaging	Het
Slx4	T	C	16: 3,797,995 (GRCm39)	E1463G	possibly damaging	Het
Stk31	T	A	6: 49,416,166 (GRCm39)		probably null	Het
Tas1r3	A	G	4: 155,946,480 (GRCm39)	I375T	probably damaging	Het
Tbc1d24	T	C	17: 24,401,494 (GRCm39)	D405G	probably damaging	Het
Tcerg1l	G	A	7: 137,861,557 (GRCm39)	P391S	probably damaging	Het
Tiam1	T	C	16: 89,695,083 (GRCm39)	S125G	probably benign	Het
Trim16	C	A	11: 62,724,949 (GRCm39)	H246N	probably damaging	Het
Tti1	T	A	2: 157,837,392 (GRCm39)	N896I	probably damaging	Het
Ubash3a	A	G	17: 31,451,286 (GRCm39)	N395S	probably damaging	Het
Uggt1	T	C	1: 36,203,589 (GRCm39)	I1014V	probably benign	Het
Vmn1r30	T	A	6: 58,412,214 (GRCm39)	Q206L	possibly damaging	Het
Washc5	T	A	15: 59,209,053 (GRCm39)	N1057I	probably benign	Het
Zcchc14	A	T	8: 122,331,756 (GRCm39)	S536T	unknown	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
R7469:Xpo4	UTSW	14	57,835,436 (GRCm39)	missense	probably benign
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'- ACCCATCAACTCAGAGGTTATG -3'
(R):5'- ACAGTTGCTGCACTTCATCTTG -3'

Sequencing Primer
(F):5'- TATGAGACAATAAATTACAAGAGCGC -3'
(R):5'- CTGCACTTCATCTTGAAATTAGCAGG -3'

Posted On

2019-10-17