Mutagenetix > Incidental Mutation

Incidental Mutation 'R2369:Xpo7'

246442

Institutional Source

Beutler Lab

Gene Symbol

Xpo7

Ensembl Gene

ENSMUSG00000022100

Gene Name

exportin 7

Synonyms

4930506C02Rik, Ranbp16

MMRRC Submission

040349-MU

Accession Numbers

Essential gene?

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

Stock #

R2369 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70899566-71004075 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 70925171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 493 (R493*)

Ref Sequence

ENSEMBL: ENSMUSP00000154350 (fasta)

Gene Model

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

AlphaFold

Q9EPK7

Predicted Effect

probably null
Transcript: ENSMUST00000022696
AA Change: R492*

SMART Domains

Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: R492*

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

Predicted Effect

probably null
Transcript: ENSMUST00000167242
AA Change: R493*

SMART Domains

Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: R493*

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

Predicted Effect

probably null
Transcript: ENSMUST00000226448
AA Change: R492*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227550

Predicted Effect

probably null
Transcript: ENSMUST00000228346
AA Change: R493*

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,421,950 (GRCm39)	N109Y	possibly damaging	Het
9230112D13Rik	A	T	14: 34,233,913 (GRCm39)	I126N	unknown	Het
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Ahcyl1	T	C	3: 107,577,556 (GRCm39)	D288G	probably damaging	Het
Atxn7l1	T	C	12: 33,408,849 (GRCm39)		probably null	Het
Ccdc33	A	T	9: 57,983,913 (GRCm39)	S220T	probably benign	Het
Celsr3	G	A	9: 108,719,751 (GRCm39)	R2450H	probably benign	Het
Cubn	T	A	2: 13,496,028 (GRCm39)	K69N	probably damaging	Het
Dclk3	A	G	9: 111,317,610 (GRCm39)	R749G	probably benign	Het
Dip2a	T	C	10: 76,149,030 (GRCm39)	N207S	probably benign	Het
Dok6	G	C	18: 89,432,988 (GRCm39)	R274G	probably null	Het
Esco2	G	A	14: 66,059,189 (GRCm39)	A496V	probably damaging	Het
Gbp5	A	T	3: 142,206,480 (GRCm39)	M55L	possibly damaging	Het
Grik5	T	C	7: 24,757,962 (GRCm39)	Y373C	probably damaging	Het
Hbs1l	T	A	10: 21,183,644 (GRCm39)	S128R	probably benign	Het
Ing3	A	G	6: 21,950,090 (GRCm39)	M28V	probably damaging	Het
Lmtk3	A	T	7: 45,444,512 (GRCm39)		probably benign	Het
Met	G	A	6: 17,531,527 (GRCm39)	V602I	probably benign	Het
Ndufaf7	C	A	17: 79,252,461 (GRCm39)	A290E	probably damaging	Het
Notch4	A	G	17: 34,804,924 (GRCm39)	Q1593R	probably benign	Het
Npl	A	G	1: 153,394,623 (GRCm39)		probably null	Het
Paqr6	T	C	3: 88,273,260 (GRCm39)	L84P	probably damaging	Het
Pros1	A	G	16: 62,748,432 (GRCm39)	Y635C	probably damaging	Het
Rad1	C	A	15: 10,486,745 (GRCm39)	N47K	probably damaging	Het
Rassf4	A	G	6: 116,615,258 (GRCm39)	F304L	probably damaging	Het
Tmem232	A	T	17: 65,709,992 (GRCm39)	V432E	probably damaging	Het
Wdr72	A	G	9: 74,117,457 (GRCm39)	K723R	possibly damaging	Het
Zfp11	G	A	5: 129,733,529 (GRCm39)	P644L	probably benign	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
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
R6593:Xpo7	UTSW	14	70,919,802 (GRCm39)	missense	probably damaging	0.99
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'- GTGTAAGTAGGGCCCTAACG -3'
(R):5'- ATGAACAAGTGCCACCGAGG -3'

Sequencing Primer
(F):5'- CCTAACGGGTACTCAGTAGTCAG -3'
(R):5'- CAAGTGCCACCGAGGACTAG -3'

Posted On

2014-10-30