Mutagenetix > Incidental Mutation

Incidental Mutation 'R5375:Xpo4'

429035

Institutional Source

Beutler Lab

Gene Symbol

Xpo4

Ensembl Gene

ENSMUSG00000021952

Gene Name

exportin 4

Synonyms

MMRRC Submission

042951-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.677) question?

Stock #

R5375 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57577521-57665430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57638307 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 123 (V123A)

Ref Sequence

ENSEMBL: ENSMUSP00000133280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089482] [ENSMUST00000172524] [ENSMUST00000174152] [ENSMUST00000174545] [ENSMUST00000174694]

AlphaFold

Q9ESJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000089482
AA Change: V123A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: V123A

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: ENSMUST00000172524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173940

Predicted Effect

probably benign
Transcript: ENSMUST00000174152

Predicted Effect

probably damaging
Transcript: ENSMUST00000174545
AA Change: V123A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: V123A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174694

SMART Domains

Protein: ENSMUSP00000133680
Gene: ENSMUSG00000114942

Domain	Start	End	E-Value	Type
PDB:2COS\|A	91	138	7e-22	PDB
low complexity region	210	223	N/A	INTRINSIC
low complexity region	401	408	N/A	INTRINSIC
low complexity region	437	444	N/A	INTRINSIC
low complexity region	471	482	N/A	INTRINSIC
low complexity region	517	529	N/A	INTRINSIC
Pfam:Pkinase	626	792	2.2e-38	PFAM
Pfam:Pkinase_Tyr	626	795	2.8e-21	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	T	A	12: 4,210,870	N995K	probably damaging	Het
AI314180	T	A	4: 58,809,401	K1658*	probably null	Het
Aldh4a1	T	C	4: 139,633,922	M60T	probably benign	Het
Alpk2	A	T	18: 65,372,738	H70Q	probably damaging	Het
Babam2	T	A	5: 31,701,863	I5N	possibly damaging	Het
Blm	T	C	7: 80,513,229	T125A	probably benign	Het
Bloc1s1	T	C	10: 128,923,957		probably benign	Het
Calcr	G	T	6: 3,714,651	Q160K	probably benign	Het
Ccdc43	C	T	11: 102,690,232	A131T	probably damaging	Het
Cdh15	A	T	8: 122,865,100	N575Y	probably damaging	Het
Chd8	T	C	14: 52,204,154	D827G	probably damaging	Het
Col3a1	A	G	1: 45,347,899		probably null	Het
Creb5	A	T	6: 53,681,017	M255L	possibly damaging	Het
Cst8	A	G	2: 148,804,583	I78V	probably benign	Het
Cyld	A	G	8: 88,733,036	E440G	possibly damaging	Het
Cyp2b9	A	C	7: 26,187,742	D192A	probably damaging	Het
Dclre1b	C	T	3: 103,803,974	R207H	probably damaging	Het
Dnah6	A	T	6: 73,123,855	F1936L	probably damaging	Het
Dpp9	A	C	17: 56,189,424	Y761*	probably null	Het
Drc1	A	T	5: 30,356,401	M434L	probably benign	Het
Dtx3l	A	T	16: 35,933,027	I403N	probably damaging	Het
Efcab9	A	G	11: 32,527,484	Y13H	probably damaging	Het
Efhb	T	A	17: 53,401,626	N672I	possibly damaging	Het
Eif5b	T	C	1: 38,045,754	V894A	possibly damaging	Het
Elovl3	T	C	19: 46,134,696	F237S	probably benign	Het
Emc1	T	A	4: 139,366,491	D637E	probably damaging	Het
Erbb2	C	A	11: 98,433,412	P742Q	probably damaging	Het
Fam234b	C	A	6: 135,233,357	L584M	probably damaging	Het
Fancd2	A	T	6: 113,568,712	D14V	possibly damaging	Het
Fat2	T	C	11: 55,262,820	H3522R	probably benign	Het
Fgfr2	T	C	7: 130,241,215	N147D	possibly damaging	Het
Gm26657	A	G	4: 56,741,180		probably benign	Het
Hcrtr1	C	T	4: 130,135,725	V188M	probably benign	Het
Herc1	T	C	9: 66,467,887	V3331A	probably damaging	Het
Hmcn2	T	C	2: 31,430,441	V3978A	possibly damaging	Het
Invs	G	A	4: 48,385,262	R202K	probably benign	Het
Lgr5	C	T	10: 115,478,564	S156N	probably benign	Het
Mras	T	G	9: 99,394,616	D67A	probably damaging	Het
Mrpl39	A	G	16: 84,723,902	L283P	probably damaging	Het
Ncoa6	A	T	2: 155,433,995	I110N	probably benign	Het
Neb	T	C	2: 52,212,584	D544G	possibly damaging	Het
Nlrc3	A	G	16: 3,964,753	I264T	possibly damaging	Het
Olfr180	T	C	16: 58,915,885	Y252C	possibly damaging	Het
Olfr341	A	G	2: 36,479,297	Y278H	probably damaging	Het
Olfr714	T	A	7: 107,073,873	M15K	probably benign	Het
Olfr830	A	G	9: 18,876,146	K273R	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Phf11d	T	C	14: 59,352,671	D234G	probably null	Het
Polq	A	T	16: 37,082,784	D1980V	probably damaging	Het
Rasa1	A	T	13: 85,288,903		probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sec23a	A	G	12: 59,007,005	V69A	probably benign	Het
Sipa1	A	G	19: 5,659,612	I260T	probably damaging	Het
Smarcc1	T	A	9: 110,190,949	L628H	probably damaging	Het
Snx31	A	G	15: 36,525,584	V323A	probably damaging	Het
Sun2	A	G	15: 79,727,522	S565P	probably damaging	Het
Tmem74	C	T	15: 43,867,168	D160N	possibly damaging	Het
Tnik	T	C	3: 28,594,092	M431T	probably benign	Het
Trp53inp1	A	G	4: 11,165,305	T110A	probably benign	Het
Ttll9	G	T	2: 152,984,224	C118F	probably benign	Het
Vps4b	A	G	1: 106,791,692	L42P	probably benign	Het
Xirp2	A	T	2: 67,511,906	N1497I	probably damaging	Het
Zfhx4	A	T	3: 5,412,425	T3367S	probably damaging	Het
Zfp236	T	C	18: 82,597,688	E1782G	possibly damaging	Het
Zfp35	T	A	18: 24,002,916	C106S	possibly damaging	Het
Zfpm1	A	G	8: 122,336,073	T624A	probably benign	Het
Zmiz2	C	T	11: 6,397,519	Q276*	probably null	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
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'- TTGGCACATTAGTTTGCATGCC -3'
(R):5'- CAGCTGACCAAGTGTCTGAG -3'

Sequencing Primer
(F):5'- GTTTGCATGCCTTTCTTTTATACTAC -3'
(R):5'- AGCTGACCAAGTGTCTGAGTCTTTC -3'

Posted On

2016-09-06