Mutagenetix > Incidental Mutation

Incidental Mutation 'BB020:Xpo7'

643138

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 #

BB020

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70899566-71004075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70944788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 35 (V35A)

Ref Sequence

ENSEMBL: ENSMUSP00000022696 (fasta)

Gene Model

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

AlphaFold

Q9EPK7

Predicted Effect

probably benign
Transcript: ENSMUST00000022696
AA Change: V35A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: V35A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167242
AA Change: V35A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: V35A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226448
AA Change: V35A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000228346
AA Change: V36A

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	G	11: 50,833,227 (GRCm39)	V125A	unknown	Het
Adam34	T	A	8: 44,103,911 (GRCm39)	H578L	probably damaging	Het
Ago4	A	T	4: 126,400,811 (GRCm39)	M678K	probably benign	Het
Atosb	A	T	4: 43,035,919 (GRCm39)	C271S	probably benign	Het
Atrn	T	C	2: 130,836,986 (GRCm39)	L1150P	probably damaging	Het
Camta1	C	T	4: 151,168,214 (GRCm39)	E279K	probably damaging	Het
Ccdc88c	T	C	12: 100,911,749 (GRCm39)	D695G	possibly damaging	Het
Col11a2	A	T	17: 34,275,029 (GRCm39)	K400*	probably null	Het
Cpsf4	T	A	5: 145,104,168 (GRCm39)	M1K	probably null	Het
Dnah12	A	T	14: 26,488,072 (GRCm39)	Q992L	probably benign	Het
Dnajc7	T	C	11: 100,487,038 (GRCm39)	Y145C	probably damaging	Het
Eml5	A	T	12: 98,810,279 (GRCm39)	D892E	possibly damaging	Het
Fam193a	A	G	5: 34,623,539 (GRCm39)	K23E	possibly damaging	Het
Filip1	T	G	9: 79,727,329 (GRCm39)	K430T	possibly damaging	Het
Gm5089	T	C	14: 122,673,403 (GRCm39)	D106G	unknown	Het
Hip1	A	T	5: 135,489,310 (GRCm39)	N45K	probably damaging	Het
Hivep2	T	C	10: 14,003,581 (GRCm39)	S60P	probably damaging	Het
Ighv1-53	A	T	12: 115,122,029 (GRCm39)	C115*	probably null	Het
Macf1	T	C	4: 123,303,444 (GRCm39)	T353A	probably benign	Het
Mast3	A	T	8: 71,239,279 (GRCm39)	V433E	probably damaging	Het
Mast4	A	T	13: 102,909,071 (GRCm39)	M660K	probably damaging	Het
Nr2e1	T	C	10: 42,439,379 (GRCm39)	Y380C	probably damaging	Het
Or5b111	T	A	19: 13,291,569 (GRCm39)	M27L	probably benign	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
Slc6a1	T	A	6: 114,288,859 (GRCm39)	W473R	probably damaging	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Spata31d1e	A	G	13: 59,891,565 (GRCm39)	L85P	probably damaging	Het
Sprr3	T	C	3: 92,364,515 (GRCm39)	I110V	possibly damaging	Het
Ston1	A	G	17: 88,943,572 (GRCm39)	E326G	probably benign	Het
Tapbpl	T	G	6: 125,207,233 (GRCm39)	Q152P	probably damaging	Het
Tectb	C	T	19: 55,183,105 (GRCm39)	L319F	possibly damaging	Het
Tpp2	G	A	1: 44,000,121 (GRCm39)	G413D	probably damaging	Het
Tpsg1	A	G	17: 25,592,178 (GRCm39)	H84R	probably damaging	Het
Usp24	A	G	4: 106,285,686 (GRCm39)	N2437S	probably benign	Het
Usp32	T	C	11: 84,897,885 (GRCm39)	Q1152R	probably damaging	Het
Vmn2r6	T	C	3: 64,467,224 (GRCm39)	T92A	probably benign	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zfp169	A	G	13: 48,643,957 (GRCm39)	V390A	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGGAGGCCATCGTTAACC -3'
(R):5'- TTCACTGAGCATGGTTGGC -3'

Sequencing Primer
(F):5'- TAACCTGGCTATGACAGTGC -3'
(R):5'- CACTGAGCATGGTTGGCTTTGTC -3'

Posted On

2020-08-01