Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02647:Xpo7'

301996

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xpo7

Ensembl Gene

ENSMUSG00000022100

Gene Name

exportin 7

Synonyms

4930506C02Rik, Ranbp16

Accession Numbers

Essential gene?

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

Stock #

IGL02647

Quality Score

Status

Chromosome

Chromosomal Location

70899566-71004075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70922905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 557 (F557S)

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: F557S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: F557S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167242
AA Change: F558S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: F558S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000226448
AA Change: F557S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227550

Predicted Effect

probably damaging
Transcript: ENSMUST00000228346
AA Change: F558S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	T	14: 29,712,847 (GRCm39)	R497W	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Bmx	T	C	X: 162,988,231 (GRCm39)	E495G	probably damaging	Het
Cbx5	T	C	15: 103,109,330 (GRCm39)		probably null	Het
Cenpj	C	T	14: 56,767,536 (GRCm39)	V1203M	probably damaging	Het
Ces1b	T	C	8: 93,783,672 (GRCm39)	H516R	probably benign	Het
D430041D05Rik	T	C	2: 104,078,611 (GRCm39)	N1235S	probably damaging	Het
Depdc1a	A	T	3: 159,228,503 (GRCm39)	K418N	probably damaging	Het
Dysf	G	A	6: 84,114,355 (GRCm39)	V1215M	probably damaging	Het
Flacc1	T	C	1: 58,709,613 (GRCm39)	T181A	probably benign	Het
Foxf2	A	T	13: 31,811,218 (GRCm39)	N386Y	probably damaging	Het
Frem1	A	T	4: 82,919,991 (GRCm39)	V455E	probably damaging	Het
Fzd7	C	A	1: 59,523,554 (GRCm39)	P479Q	probably damaging	Het
Hnmt	G	A	2: 23,904,319 (GRCm39)	S114F	possibly damaging	Het
Irf3	A	G	7: 44,649,800 (GRCm39)	N6S	probably benign	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Lrba	A	G	3: 86,267,038 (GRCm39)	D1576G	probably benign	Het
Lsg1	A	T	16: 30,404,370 (GRCm39)		probably null	Het
Mal2	T	C	15: 54,451,833 (GRCm39)	F85L	probably damaging	Het
Me2	A	C	18: 73,930,974 (GRCm39)	S106R	probably benign	Het
Med21	T	C	6: 146,550,731 (GRCm39)	S81P	probably benign	Het
Mos	T	C	4: 3,870,961 (GRCm39)	Y285C	probably damaging	Het
Mtmr1	A	G	X: 70,436,939 (GRCm39)	N256S	probably damaging	Het
Or7e174	T	A	9: 20,012,505 (GRCm39)	M150K	probably benign	Het
Prl3d2	A	C	13: 27,309,999 (GRCm39)	T155P	probably benign	Het
R3hdm2	C	T	10: 127,295,353 (GRCm39)	S240L	probably damaging	Het
Semp2l2a	T	C	8: 13,886,979 (GRCm39)	T371A	probably damaging	Het
Skint6	A	T	4: 112,985,088 (GRCm39)		probably benign	Het
Ubr5	A	G	15: 37,992,326 (GRCm39)	S1933P	probably damaging	Het
Veph1	A	T	3: 66,066,869 (GRCm39)		probably benign	Het
Zfp647	T	C	15: 76,801,915 (GRCm39)	E30G	probably damaging	Het
Zfp655	A	T	5: 145,179,816 (GRCm39)	I75L	probably benign	Het
Zfp981	C	A	4: 146,621,709 (GRCm39)	Y211*	probably null	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
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
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

Posted On

2015-04-16