Mutagenetix > Incidental Mutation

Incidental Mutation 'R6593:Xpo7'

523484

Institutional Source

Beutler Lab

Gene Symbol

Xpo7

Ensembl Gene

ENSMUSG00000022100

Gene Name

exportin 7

Synonyms

4930506C02Rik, Ranbp16

MMRRC Submission

044717-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R6593 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70899566-71004075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70919802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 671 (A671V)

Ref Sequence

ENSEMBL: ENSMUSP00000153855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022696] [ENSMUST00000167242] [ENSMUST00000226448] [ENSMUST00000228346]

AlphaFold

Q9EPK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000022696
AA Change: A671V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: A671V

Domain	Start	End	E-Value	Type
IBN_N	30	96	3.52e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167242
AA Change: A672V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: A672V

Domain	Start	End	E-Value	Type
IBN_N	30	96	3.52e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000226448
AA Change: A671V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227550

Predicted Effect

probably damaging
Transcript: ENSMUST00000228346
AA Change: A672V

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.8%
3x: 99.2%
10x: 96.6%
20x: 89.6%

Validation Efficiency

100% (37/37)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,903,491 (GRCm39)	N1047K	probably benign	Het
AI597479	C	A	1: 43,150,408 (GRCm39)	Q173K	probably damaging	Het
Arhgef10	T	C	8: 15,012,522 (GRCm39)	L282P	probably damaging	Het
Arhgef10	T	C	8: 15,012,564 (GRCm39)	I296T	possibly damaging	Het
Atg2b	A	G	12: 105,611,107 (GRCm39)	S1275P	probably damaging	Het
Cep290	T	C	10: 100,344,638 (GRCm39)	M485T	probably benign	Het
Clca3a2	A	G	3: 144,514,338 (GRCm39)		probably null	Het
Clcn6	C	T	4: 148,095,226 (GRCm39)	S731N	probably benign	Het
Clic6	A	G	16: 92,325,005 (GRCm39)	I388V	possibly damaging	Het
Cpsf4l	G	T	11: 113,600,192 (GRCm39)		probably benign	Het
Dlg5	G	A	14: 24,200,720 (GRCm39)	H1350Y	probably benign	Het
Dnase2b	T	C	3: 146,292,666 (GRCm39)	Y169C	probably damaging	Het
Elavl3	C	T	9: 21,929,843 (GRCm39)	V354M	possibly damaging	Het
Farp2	A	C	1: 93,497,662 (GRCm39)	I231L	possibly damaging	Het
Gcc2	T	A	10: 58,107,329 (GRCm39)	M755K	probably damaging	Het
Gpr88	T	C	3: 116,046,273 (GRCm39)	T13A	unknown	Het
Gstm3	T	A	3: 107,875,511 (GRCm39)	N40Y	probably benign	Het
Krtap5-2	A	T	7: 141,728,697 (GRCm39)	C328S	unknown	Het
Lpar1	A	T	4: 58,486,605 (GRCm39)	V222E	probably damaging	Het
Neto2	A	G	8: 86,396,175 (GRCm39)	S192P	probably damaging	Het
Odad1	T	A	7: 45,596,808 (GRCm39)	D378E	probably damaging	Het
Or52n3	C	T	7: 104,530,640 (GRCm39)	T242I	probably damaging	Het
Pcdhgb1	G	T	18: 37,815,134 (GRCm39)	D542Y	probably damaging	Het
Phldb2	G	A	16: 45,645,790 (GRCm39)	Q264*	probably null	Het
Ptgs2	G	A	1: 149,976,784 (GRCm39)	D6N	possibly damaging	Het
Rasef	G	T	4: 73,663,327 (GRCm39)	H167N	probably damaging	Het
Rbbp4	A	G	4: 129,216,168 (GRCm39)	L193S	probably damaging	Het
Rigi	T	C	4: 40,226,651 (GRCm39)	I169V	probably benign	Het
Sec24d	T	C	3: 123,147,061 (GRCm39)	F673S	probably damaging	Het
Slc9b1	T	C	3: 135,063,219 (GRCm39)	M1T	probably null	Het
Stra6	A	G	9: 58,059,262 (GRCm39)	T542A	probably benign	Het
Stt3b	T	C	9: 115,081,579 (GRCm39)	Y569C	probably damaging	Het
Traf3ip1	A	G	1: 91,455,417 (GRCm39)	K626R	possibly damaging	Het
Washc2	T	A	6: 116,236,210 (GRCm39)	I1227N	probably damaging	Het
Zfp799	A	G	17: 33,038,764 (GRCm39)	Y501H	probably damaging	Het

Other mutations in Xpo7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Xpo7	APN	14	70,909,098 (GRCm39)	missense	probably benign	0.32
IGL01066:Xpo7	APN	14	70,939,195 (GRCm39)	missense	probably benign	0.01
IGL01610:Xpo7	APN	14	70,940,670 (GRCm39)	missense	probably damaging	1.00
IGL01716:Xpo7	APN	14	70,922,995 (GRCm39)	missense	probably damaging	1.00
IGL01885:Xpo7	APN	14	70,903,475 (GRCm39)	missense	probably benign	0.03
IGL02647:Xpo7	APN	14	70,922,905 (GRCm39)	missense	probably damaging	1.00
IGL03088:Xpo7	APN	14	70,918,702 (GRCm39)	missense	probably benign	0.09
IGL03245:Xpo7	APN	14	70,925,734 (GRCm39)	missense	probably damaging	1.00
BB010:Xpo7	UTSW	14	70,944,788 (GRCm39)	missense	probably benign	0.05
BB020:Xpo7	UTSW	14	70,944,788 (GRCm39)	missense	probably benign	0.05
G1patch:Xpo7	UTSW	14	70,914,253 (GRCm39)	missense	probably damaging	1.00
PIT4687001:Xpo7	UTSW	14	70,904,589 (GRCm39)	missense	probably benign	0.22
R0893:Xpo7	UTSW	14	70,903,537 (GRCm39)	splice site	probably benign
R1222:Xpo7	UTSW	14	70,904,524 (GRCm39)	missense	possibly damaging	0.55
R1474:Xpo7	UTSW	14	70,936,473 (GRCm39)	missense	probably benign	0.00
R1509:Xpo7	UTSW	14	70,915,582 (GRCm39)	missense	probably damaging	0.99
R1867:Xpo7	UTSW	14	70,931,431 (GRCm39)	missense	probably damaging	1.00
R1898:Xpo7	UTSW	14	70,933,064 (GRCm39)	missense	probably benign	0.20
R2105:Xpo7	UTSW	14	70,928,431 (GRCm39)	missense	probably benign	0.02
R2369:Xpo7	UTSW	14	70,925,171 (GRCm39)	nonsense	probably null
R2937:Xpo7	UTSW	14	70,909,130 (GRCm39)	missense	probably damaging	0.99
R2938:Xpo7	UTSW	14	70,909,130 (GRCm39)	missense	probably damaging	0.99
R2940:Xpo7	UTSW	14	70,904,577 (GRCm39)	missense	probably benign	0.38
R2940:Xpo7	UTSW	14	70,904,576 (GRCm39)	missense	probably damaging	1.00
R3001:Xpo7	UTSW	14	70,930,085 (GRCm39)	splice site	probably benign
R4436:Xpo7	UTSW	14	70,906,869 (GRCm39)	missense	probably damaging	1.00
R4529:Xpo7	UTSW	14	70,906,188 (GRCm39)	missense	probably damaging	1.00
R4873:Xpo7	UTSW	14	70,914,256 (GRCm39)	critical splice acceptor site	probably null
R4875:Xpo7	UTSW	14	70,914,256 (GRCm39)	critical splice acceptor site	probably null
R4907:Xpo7	UTSW	14	70,908,069 (GRCm39)	missense	probably benign	0.16
R5007:Xpo7	UTSW	14	70,925,704 (GRCm39)	missense	probably damaging	1.00
R5282:Xpo7	UTSW	14	70,921,171 (GRCm39)	missense	probably damaging	1.00
R5346:Xpo7	UTSW	14	70,921,117 (GRCm39)	missense	probably damaging	1.00
R5522:Xpo7	UTSW	14	70,909,090 (GRCm39)	nonsense	probably null
R5533:Xpo7	UTSW	14	70,931,407 (GRCm39)	missense	probably damaging	1.00
R5668:Xpo7	UTSW	14	70,920,286 (GRCm39)	missense	possibly damaging	0.52
R6042:Xpo7	UTSW	14	70,933,103 (GRCm39)	missense	possibly damaging	0.47
R6052:Xpo7	UTSW	14	70,921,159 (GRCm39)	missense	possibly damaging	0.68
R6066:Xpo7	UTSW	14	70,919,778 (GRCm39)	missense	probably null	0.99
R6085:Xpo7	UTSW	14	70,934,051 (GRCm39)	missense	probably benign	0.38
R6180:Xpo7	UTSW	14	70,920,243 (GRCm39)	missense	probably benign	0.14
R6291:Xpo7	UTSW	14	70,942,130 (GRCm39)	nonsense	probably null
R6401:Xpo7	UTSW	14	70,919,787 (GRCm39)	missense	probably damaging	1.00
R6725:Xpo7	UTSW	14	70,914,253 (GRCm39)	missense	probably damaging	1.00
R6938:Xpo7	UTSW	14	70,903,464 (GRCm39)	missense	probably benign	0.00
R6996:Xpo7	UTSW	14	70,906,888 (GRCm39)	missense	probably benign
R7020:Xpo7	UTSW	14	70,903,463 (GRCm39)	missense	probably benign	0.00
R7053:Xpo7	UTSW	14	70,922,298 (GRCm39)	critical splice donor site	probably null
R7061:Xpo7	UTSW	14	70,908,512 (GRCm39)	missense	probably benign	0.04
R7095:Xpo7	UTSW	14	70,942,146 (GRCm39)	missense	probably damaging	1.00
R7604:Xpo7	UTSW	14	70,909,110 (GRCm39)	missense	probably damaging	1.00
R7933:Xpo7	UTSW	14	70,944,788 (GRCm39)	missense	probably benign	0.05
R8044:Xpo7	UTSW	14	70,922,366 (GRCm39)	missense	probably benign	0.18
R8438:Xpo7	UTSW	14	70,940,672 (GRCm39)	missense	probably benign	0.02
R8495:Xpo7	UTSW	14	70,907,989 (GRCm39)	critical splice donor site	probably null
R8518:Xpo7	UTSW	14	70,944,837 (GRCm39)	missense	probably damaging	1.00
R9018:Xpo7	UTSW	14	70,944,864 (GRCm39)	nonsense	probably null
R9129:Xpo7	UTSW	14	70,909,113 (GRCm39)	missense	probably benign	0.00
R9385:Xpo7	UTSW	14	70,925,733 (GRCm39)	missense	probably damaging	1.00
R9567:Xpo7	UTSW	14	70,903,466 (GRCm39)	missense	probably benign	0.00
R9569:Xpo7	UTSW	14	70,906,140 (GRCm39)	missense	possibly damaging	0.80
R9610:Xpo7	UTSW	14	70,925,617 (GRCm39)	missense	probably benign	0.32
R9611:Xpo7	UTSW	14	70,925,617 (GRCm39)	missense	probably benign	0.32
X0062:Xpo7	UTSW	14	70,922,968 (GRCm39)	missense	probably damaging	1.00
Z1176:Xpo7	UTSW	14	70,930,150 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TTCCAGTAGAGGAAGCATGGC -3'
(R):5'- CCATGGGGCTAGTGTGTAAG -3'

Sequencing Primer
(F):5'- GGAAGCATGGCAGTTTAATGC -3'
(R):5'- GAGCGAGCACTTTTCATTT -3'

Posted On

2018-06-22