Mutagenetix > Incidental Mutation

Incidental Mutation 'R9674:Xpo6'

728233

Institutional Source

Beutler Lab

Gene Symbol

Xpo6

Ensembl Gene

ENSMUSG00000000131

Gene Name

exportin 6

Synonyms

Ranbp20, 2610005L19Rik, C230091E20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.807) question?

Stock #

R9674 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125700887-125799673 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125723700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 537 (H537L)

Ref Sequence

ENSEMBL: ENSMUSP00000130527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009344] [ENSMUST00000166538] [ENSMUST00000168189]

AlphaFold

Q924Z6

Predicted Effect

probably benign
Transcript: ENSMUST00000009344
AA Change: H536L

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000009344
Gene: ENSMUSG00000000131
AA Change: H536L

Domain	Start	End	E-Value	Type
IBN_N	31	97	4.04e-6	SMART
Pfam:Xpo1	103	290	1.4e-29	PFAM
low complexity region	469	484	N/A	INTRINSIC
low complexity region	672	684	N/A	INTRINSIC
low complexity region	1022	1034	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000166538

Predicted Effect

probably benign
Transcript: ENSMUST00000166540

Predicted Effect

probably benign
Transcript: ENSMUST00000168189
AA Change: H537L

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000130527
Gene: ENSMUSG00000000131
AA Change: H537L

Domain	Start	End	E-Value	Type
IBN_N	31	97	4.04e-6	SMART
Pfam:Xpo1	103	290	1.1e-25	PFAM
low complexity region	469	485	N/A	INTRINSIC
low complexity region	673	685	N/A	INTRINSIC
low complexity region	1023	1035	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 59,914,472 (GRCm39)	D25V	possibly damaging	Het
Abca16	A	G	7: 120,074,668 (GRCm39)		probably null	Het
Adam9	T	A	8: 25,441,014 (GRCm39)	T820S	possibly damaging	Het
Adamts6	G	A	13: 104,563,448 (GRCm39)	V647I	probably benign	Het
Afap1l2	T	A	19: 56,922,195 (GRCm39)	R14S	probably damaging	Het
Aff3	C	T	1: 38,248,864 (GRCm39)	V748I	probably damaging	Het
Aldh5a1	T	C	13: 25,110,038 (GRCm39)	I166V	probably benign	Het
Alx4	G	T	2: 93,507,858 (GRCm39)	L384F	probably damaging	Het
Ank3	T	A	10: 69,824,549 (GRCm39)	S1073T		Het
Ankrd50	A	G	3: 38,506,574 (GRCm39)	C275R	unknown	Het
Apol11a	G	A	15: 77,401,347 (GRCm39)	S278N	possibly damaging	Het
Astn2	T	A	4: 65,460,963 (GRCm39)	D1057V	probably damaging	Het
Atp11a	T	C	8: 12,877,525 (GRCm39)	V317A	probably benign	Het
Cacna1i	A	G	15: 80,264,629 (GRCm39)	T1486A	probably damaging	Het
Cadps	A	G	14: 12,454,291 (GRCm38)	F1076L	probably damaging	Het
Cct6b	T	C	11: 82,645,838 (GRCm39)	T154A	probably damaging	Het
Cfap69	A	G	5: 5,697,021 (GRCm39)	F92L	possibly damaging	Het
Cyp19a1	A	T	9: 54,074,141 (GRCm39)	I471K	possibly damaging	Het
Cyp26a1	T	A	19: 37,689,726 (GRCm39)	M474K	probably damaging	Het
Cyp4a12a	T	C	4: 115,186,156 (GRCm39)	S439P	probably benign	Het
Cyp4f37	T	A	17: 32,846,841 (GRCm39)		probably null	Het
Dgki	A	G	6: 37,027,157 (GRCm39)	Y395H	probably damaging	Het
Dlg1	T	C	16: 31,610,580 (GRCm39)	V287A	probably damaging	Het
Dlx2	C	T	2: 71,376,496 (GRCm39)	G81S	possibly damaging	Het
Dnah8	G	T	17: 30,998,112 (GRCm39)	K3448N	possibly damaging	Het
Dnhd1	C	T	7: 105,363,429 (GRCm39)	P3997L	probably damaging	Het
Drosha	C	G	15: 12,890,170 (GRCm39)	D910E	probably damaging	Het
Dscam	A	G	16: 96,442,036 (GRCm39)	V1597A	probably benign	Het
Eif1b	A	G	9: 120,323,265 (GRCm39)	K42E	possibly damaging	Het
Enpp2	C	A	15: 54,816,135 (GRCm39)	G10W	unknown	Het
Exd2	A	G	12: 80,536,372 (GRCm39)	N334S	probably benign	Het
Glt6d1	T	A	2: 25,684,382 (GRCm39)	N208I	probably benign	Het
Grin2a	T	A	16: 9,471,265 (GRCm39)	K668*	probably null	Het
Grm1	A	G	10: 10,609,028 (GRCm39)	V535A	possibly damaging	Het
H2ac7	A	G	13: 23,758,862 (GRCm39)	D73G	possibly damaging	Het
Hey2	A	T	10: 30,710,413 (GRCm39)	D113E	probably benign	Het
Ighm	T	A	12: 113,385,139 (GRCm39)	I274F		Het
Ighv1-58	G	T	12: 115,275,847 (GRCm39)	T97K	probably damaging	Het
Igkv6-20	T	C	6: 70,312,852 (GRCm39)	H107R	possibly damaging	Het
Il15	C	T	8: 83,069,938 (GRCm39)	G42D	probably damaging	Het
Jakmip2	T	A	18: 43,704,961 (GRCm39)	M347L	probably benign	Het
Kcnh7	T	C	2: 62,595,060 (GRCm39)	Y670C	probably damaging	Het
Ktn1	G	C	14: 47,922,213 (GRCm39)	C458S	possibly damaging	Het
Lama5	C	T	2: 179,840,267 (GRCm39)		probably null	Het
Lce1i	T	C	3: 92,685,113 (GRCm39)	Q21R	unknown	Het
Lmo7	A	T	14: 102,078,340 (GRCm39)	E81D	probably damaging	Het
Lrrc4b	A	T	7: 44,111,852 (GRCm39)	I575F	probably damaging	Het
Mmrn1	C	T	6: 60,948,072 (GRCm39)	Q272*	probably null	Het
Nbea	A	T	3: 55,966,183 (GRCm39)	D426E	probably damaging	Het
Neto1	G	A	18: 86,491,827 (GRCm39)	V243M	probably damaging	Het
Notch1	G	A	2: 26,361,308 (GRCm39)	R1061C	probably damaging	Het
Or5g25	T	G	2: 85,478,593 (GRCm39)	Q24P	possibly damaging	Het
Or5p67	A	T	7: 107,922,271 (GRCm39)	I204N	probably benign	Het
Osgin1	A	G	8: 120,172,499 (GRCm39)	D431G	possibly damaging	Het
Ppp4r1	A	G	17: 66,140,127 (GRCm39)	D675G	probably damaging	Het
Pramel25	T	A	4: 143,520,162 (GRCm39)	H135Q	probably benign	Het
Prkdc	T	A	16: 15,533,819 (GRCm39)	H1552Q	probably damaging	Het
Rbfox1	T	C	16: 7,170,885 (GRCm39)	F282L	probably benign	Het
Ret	T	C	6: 118,130,830 (GRCm39)	D1111G	probably damaging	Het
Rnf224	A	T	2: 25,126,330 (GRCm39)	Y8N	probably benign	Het
Rtl1	G	T	12: 109,559,024 (GRCm39)	H938Q	possibly damaging	Het
Sec23ip	T	G	7: 128,380,187 (GRCm39)	D867E	probably damaging	Het
Sema3f	A	T	9: 107,566,947 (GRCm39)	L194Q	possibly damaging	Het
Sfmbt1	C	T	14: 30,495,851 (GRCm39)	R45C	probably damaging	Het
Slc7a4	T	C	16: 17,392,208 (GRCm39)	I409V	probably benign	Het
Slco6c1	T	A	1: 97,047,565 (GRCm39)	D246V	probably damaging	Het
Smap2	C	T	4: 120,826,745 (GRCm39)	M426I	probably benign	Het
Spata31h1	C	T	10: 82,120,030 (GRCm39)	V4327I	possibly damaging	Het
Tmem184b	T	A	15: 79,249,524 (GRCm39)	T315S	probably benign	Het
Trpm4	A	T	7: 44,982,811 (GRCm39)	D30E	possibly damaging	Het
Ttc7b	T	A	12: 100,432,553 (GRCm39)	K154N	probably benign	Het
Vps13b	T	A	15: 35,607,380 (GRCm39)	H1104Q	probably damaging	Het
Wnk4	T	A	11: 101,166,874 (GRCm39)	L1010Q	unknown	Het
Xrn1	A	T	9: 95,855,645 (GRCm39)	Y314F	probably damaging	Het
Xrn1	A	T	9: 95,855,647 (GRCm39)	I315F	possibly damaging	Het
Zap70	T	C	1: 36,810,150 (GRCm39)	Y87H	probably benign	Het
Zbtb4	T	C	11: 69,669,973 (GRCm39)	Y899H	probably damaging	Het
Zcchc7	T	A	4: 44,931,418 (GRCm39)	H202Q	possibly damaging	Het
Zeb2	A	G	2: 44,891,725 (GRCm39)	Y276H	probably damaging	Het
Zfp867	T	G	11: 59,355,850 (GRCm39)	Q68P	probably benign	Het

Other mutations in Xpo6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Xpo6	APN	7	125,728,740 (GRCm39)	missense	probably benign	0.03
IGL01432:Xpo6	APN	7	125,723,553 (GRCm39)	missense	probably benign	0.31
IGL01627:Xpo6	APN	7	125,748,506 (GRCm39)	missense	probably damaging	1.00
IGL01878:Xpo6	APN	7	125,773,365 (GRCm39)	missense	probably benign	0.35
IGL02185:Xpo6	APN	7	125,712,980 (GRCm39)	splice site	probably benign
IGL02744:Xpo6	APN	7	125,707,620 (GRCm39)	unclassified	probably benign
IGL02927:Xpo6	APN	7	125,755,901 (GRCm39)	missense	possibly damaging	0.86
IGL03216:Xpo6	APN	7	125,703,985 (GRCm39)	missense	probably damaging	1.00
Anthracite	UTSW	7	125,701,505 (GRCm39)	nonsense	probably null
Bituminous	UTSW	7	125,712,127 (GRCm39)	splice site	probably benign
Cerise	UTSW	7	125,708,016 (GRCm39)	missense	probably damaging	1.00
Crayola	UTSW	7	125,706,250 (GRCm39)	missense	probably damaging	0.98
pastel	UTSW	7	125,707,791 (GRCm39)	missense	probably damaging	1.00
R0845:Xpo6	UTSW	7	125,728,715 (GRCm39)	splice site	probably benign
R1671:Xpo6	UTSW	7	125,707,715 (GRCm39)	missense	possibly damaging	0.92
R2349:Xpo6	UTSW	7	125,712,875 (GRCm39)	missense	probably benign	0.18
R3051:Xpo6	UTSW	7	125,703,893 (GRCm39)	missense	probably damaging	1.00
R3052:Xpo6	UTSW	7	125,703,893 (GRCm39)	missense	probably damaging	1.00
R3053:Xpo6	UTSW	7	125,703,893 (GRCm39)	missense	probably damaging	1.00
R3902:Xpo6	UTSW	7	125,719,581 (GRCm39)	missense	probably damaging	1.00
R4011:Xpo6	UTSW	7	125,739,780 (GRCm39)	missense	probably benign	0.13
R4231:Xpo6	UTSW	7	125,773,354 (GRCm39)	missense	possibly damaging	0.66
R4569:Xpo6	UTSW	7	125,727,427 (GRCm39)	missense	probably damaging	1.00
R4604:Xpo6	UTSW	7	125,712,924 (GRCm39)	missense	possibly damaging	0.52
R4736:Xpo6	UTSW	7	125,739,755 (GRCm39)	missense	probably benign
R4919:Xpo6	UTSW	7	125,752,115 (GRCm39)	missense	probably benign	0.01
R4953:Xpo6	UTSW	7	125,768,443 (GRCm39)	missense	probably damaging	1.00
R5017:Xpo6	UTSW	7	125,703,919 (GRCm39)	missense	probably benign	0.31
R5590:Xpo6	UTSW	7	125,706,250 (GRCm39)	missense	probably damaging	0.98
R5856:Xpo6	UTSW	7	125,748,674 (GRCm39)	intron	probably benign
R6077:Xpo6	UTSW	7	125,709,124 (GRCm39)	missense	possibly damaging	0.67
R6156:Xpo6	UTSW	7	125,708,016 (GRCm39)	missense	probably damaging	1.00
R6256:Xpo6	UTSW	7	125,707,791 (GRCm39)	missense	probably damaging	1.00
R6481:Xpo6	UTSW	7	125,712,057 (GRCm39)	missense	probably damaging	1.00
R6500:Xpo6	UTSW	7	125,770,262 (GRCm39)	intron	probably benign
R7407:Xpo6	UTSW	7	125,770,224 (GRCm39)	missense	probably damaging	0.99
R7480:Xpo6	UTSW	7	125,701,505 (GRCm39)	nonsense	probably null
R7630:Xpo6	UTSW	7	125,739,561 (GRCm39)	splice site	probably null
R7794:Xpo6	UTSW	7	125,760,035 (GRCm39)	missense	probably damaging	0.98
R7984:Xpo6	UTSW	7	125,719,616 (GRCm39)	missense	probably benign
R8022:Xpo6	UTSW	7	125,768,426 (GRCm39)	missense	probably benign	0.04
R8283:Xpo6	UTSW	7	125,727,421 (GRCm39)	missense	possibly damaging	0.90
R8438:Xpo6	UTSW	7	125,760,054 (GRCm39)	missense	possibly damaging	0.71
R8786:Xpo6	UTSW	7	125,712,127 (GRCm39)	splice site	probably benign
R9427:Xpo6	UTSW	7	125,748,418 (GRCm39)	nonsense	probably null
R9711:Xpo6	UTSW	7	125,712,873 (GRCm39)	missense	probably benign	0.00
X0012:Xpo6	UTSW	7	125,768,399 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCTGAAGGAGAGGTGCATGACTC -3'
(R):5'- ACCAGGCTGTGTCTTTGTCC -3'

Sequencing Primer
(F):5'- GAGGTGCATGACTCAGCCAAC -3'
(R):5'- TCCCTGGAGCAGCACAGATAAAG -3'

Posted On

2022-10-06