Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01885:Xpo7'

179120

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 #

IGL01885

Quality Score

Status

Chromosome

Chromosomal Location

70899566-71004075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70903475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1078 (T1078I)

Ref Sequence

ENSEMBL: ENSMUSP00000129504 (fasta)

Gene Model

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

AlphaFold

Q9EPK7

Predicted Effect

probably benign
Transcript: ENSMUST00000022696
AA Change: T1077I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: T1077I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167242
AA Change: T1078I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: T1078I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226448

Predicted Effect

probably benign
Transcript: ENSMUST00000228346
AA Change: T1078I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	C	8: 111,774,575 (GRCm39)	V568A	possibly damaging	Het
Abcb11	T	A	2: 69,117,971 (GRCm39)	Q469L	probably damaging	Het
Ahsg	G	A	16: 22,717,731 (GRCm39)	G264E	probably damaging	Het
Ankar	T	C	1: 72,697,862 (GRCm39)	Y788C	probably damaging	Het
Birc6	T	A	17: 74,911,511 (GRCm39)	F1508I	possibly damaging	Het
Cd6	C	A	19: 10,776,601 (GRCm39)	Q141H	probably benign	Het
Cercam	A	C	2: 29,771,015 (GRCm39)	T471P	probably damaging	Het
Cux1	T	C	5: 136,337,301 (GRCm39)	D729G	possibly damaging	Het
Dglucy	T	A	12: 100,816,540 (GRCm39)	F394Y	probably damaging	Het
E130308A19Rik	A	G	4: 59,720,004 (GRCm39)	N512S	probably benign	Het
Ephb4	T	C	5: 137,356,059 (GRCm39)	C223R	probably damaging	Het
Gcn1	T	A	5: 115,714,174 (GRCm39)		probably null	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hirip3	T	A	7: 126,463,381 (GRCm39)	S446T	probably benign	Het
Hoxa5	A	T	6: 52,179,647 (GRCm39)	F243I	probably damaging	Het
Iars1	T	C	13: 49,844,975 (GRCm39)	V162A	probably benign	Het
Lama2	G	A	10: 26,981,135 (GRCm39)	R1840*	probably null	Het
Lbp	T	A	2: 158,166,493 (GRCm39)	L349Q	probably damaging	Het
Lrp4	T	C	2: 91,331,452 (GRCm39)	I1604T	probably benign	Het
Mapk10	T	C	5: 103,144,455 (GRCm39)	K121E	probably damaging	Het
Nav3	T	A	10: 109,578,521 (GRCm39)	R1579*	probably null	Het
Obscn	T	C	11: 58,965,794 (GRCm39)	D652G	possibly damaging	Het
Or10x1	A	G	1: 174,196,967 (GRCm39)	I161M	probably damaging	Het
Or5b117	G	A	19: 13,431,449 (GRCm39)	T144I	probably benign	Het
Or7g30	A	G	9: 19,352,760 (GRCm39)	I184V	probably benign	Het
Ostm1	C	T	10: 42,574,147 (GRCm39)	S280L	possibly damaging	Het
Peak1	C	T	9: 56,167,388 (GRCm39)	R180K	probably damaging	Het
Plcz1	T	C	6: 139,947,837 (GRCm39)	Y515C	probably benign	Het
Postn	T	C	3: 54,283,455 (GRCm39)		probably benign	Het
Ptchd4	C	T	17: 42,814,493 (GRCm39)	T798I	probably damaging	Het
Rnf41	A	T	10: 128,271,344 (GRCm39)	N85Y	probably damaging	Het
Shisa7	A	T	7: 4,833,825 (GRCm39)	H323Q	probably damaging	Het
Slco2a1	T	A	9: 102,951,629 (GRCm39)	M386K	probably damaging	Het
St18	G	A	1: 6,914,596 (GRCm39)		probably null	Het
Stra6	T	A	9: 58,048,431 (GRCm39)	L175M	probably damaging	Het
Tmem67	A	G	4: 12,057,389 (GRCm39)	L600P	probably damaging	Het
Try5	G	T	6: 41,288,672 (GRCm39)	N182K	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zan	G	A	5: 137,462,386 (GRCm39)	T931I	unknown	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
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
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

2014-05-07