Mutagenetix > Incidental Mutation

Incidental Mutation 'R6085:Xpo7'

482444

Institutional Source

Beutler Lab

Gene Symbol

Xpo7

Ensembl Gene

ENSMUSG00000022100

Gene Name

exportin 7

Synonyms

4930506C02Rik, Ranbp16

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R6085 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70899566-71004075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70934051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 236 (S236T)

Ref Sequence

ENSEMBL: ENSMUSP00000154350 (fasta)

Gene Model

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

AlphaFold

Q9EPK7

Predicted Effect

probably benign
Transcript: ENSMUST00000022696
AA Change: S235T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: S235T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167242
AA Change: S235T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: S235T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226448
AA Change: S235T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226607

Predicted Effect

probably benign
Transcript: ENSMUST00000228346
AA Change: S236T

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Boc	G	T	16: 44,308,970 (GRCm39)	D847E	probably damaging	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cdk12	T	C	11: 98,134,255 (GRCm39)	I1051T	unknown	Het
Ciita	A	G	16: 10,330,029 (GRCm39)	E771G	probably benign	Het
Cul2	T	C	18: 3,431,508 (GRCm39)	F638L	probably benign	Het
Ddx21	A	G	10: 62,429,866 (GRCm39)	Y293H	probably damaging	Het
Dhx8	C	T	11: 101,655,139 (GRCm39)	R1050W	probably damaging	Het
Etv1	G	A	12: 38,904,194 (GRCm39)	D285N	probably damaging	Het
Hs3st3a1	G	A	11: 64,327,004 (GRCm39)	V38I	possibly damaging	Het
Ifit1bl2	A	C	19: 34,597,217 (GRCm39)	F133C	possibly damaging	Het
Lama3	C	T	18: 12,615,156 (GRCm39)	T1360I	probably benign	Het
Mgrn1	A	G	16: 4,738,240 (GRCm39)	T265A	probably benign	Het
Nup155	T	C	15: 8,177,842 (GRCm39)	V1075A	probably damaging	Het
Or1ad6	A	G	11: 50,859,950 (GRCm39)	Y35C		Het
Pld4	A	G	12: 112,733,320 (GRCm39)	T299A	probably benign	Het
Prr5	T	A	15: 84,572,106 (GRCm39)	I38N	probably damaging	Het
Slc25a47	A	G	12: 108,820,254 (GRCm39)	Y86C	probably benign	Het
Spata31e5	T	C	1: 28,817,308 (GRCm39)	I241M	possibly damaging	Het
Synrg	A	T	11: 83,930,487 (GRCm39)	E1276D	possibly damaging	Het
Taar7e	T	C	10: 23,913,761 (GRCm39)	F84L	probably benign	Het
Tssk1	G	A	16: 17,712,848 (GRCm39)	C211Y	possibly damaging	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		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
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
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'- ACTCCATTAACCCTTAGCATGTTG -3'
(R):5'- CAAGTACAGTTTTCCTTTTGCGGC -3'

Sequencing Primer
(F):5'- CCTTAGCATGTTGTAAACAAACGC -3'
(R):5'- GCTTAATAGCCTACTTCTGAACCTAG -3'

Posted On

2017-07-14