Mutagenetix > Incidental Mutation

Incidental Mutation 'R0077:Xpot'

19493

Institutional Source

Beutler Lab

Gene Symbol

Xpot

Ensembl Gene

ENSMUSG00000034667

Gene Name

exportin, tRNA (nuclear export receptor for tRNAs)

Synonyms

EXPORTIN-T, 1110004L07Rik, C79645

MMRRC Submission

038364-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R0077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121423285-121462237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121441544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 560 (N560K)

Ref Sequence

ENSEMBL: ENSMUSP00000151722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039810] [ENSMUST00000217865] [ENSMUST00000218004]

AlphaFold

Q9CRT8

Predicted Effect

probably benign
Transcript: ENSMUST00000039810
AA Change: N561K

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000043488
Gene: ENSMUSG00000034667
AA Change: N561K

Domain	Start	End	E-Value	Type
IBN_N	21	89	1.37e-3	SMART
Pfam:Xpo1	98	248	5.1e-42	PFAM
low complexity region	386	399	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217865

Predicted Effect

probably benign
Transcript: ENSMUST00000218004
AA Change: N560K

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218973

Predicted Effect

probably benign
Transcript: ENSMUST00000219334

Meta Mutation Damage Score

0.0765

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.4%
20x: 90.5%

Validation Efficiency

83% (159/192)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(22) : Targeted, other(2) Gene trapped(20)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,919,532 (GRCm39)		probably benign	Het
Adgrl4	A	G	3: 151,223,418 (GRCm39)	I624V	probably damaging	Het
AI661453	A	G	17: 47,780,287 (GRCm39)		probably benign	Het
Alg12	C	T	15: 88,700,181 (GRCm39)	E60K	probably damaging	Het
Angel2	A	T	1: 190,665,284 (GRCm39)	N72Y	possibly damaging	Het
Ank1	C	A	8: 23,630,183 (GRCm39)	P81Q	probably damaging	Het
Atp6v1c2	A	T	12: 17,371,613 (GRCm39)	D61E	probably damaging	Het
Bpi	T	A	2: 158,103,254 (GRCm39)	M83K	probably damaging	Het
Capn7	A	G	14: 31,090,072 (GRCm39)	I642V	probably benign	Het
Ccdc134	T	C	15: 82,015,938 (GRCm39)		probably benign	Het
Ccr3	C	T	9: 123,829,061 (GRCm39)	T132I	probably damaging	Het
Cfap65	C	A	1: 74,971,077 (GRCm39)	W80C	probably damaging	Het
Chaf1a	T	A	17: 56,354,384 (GRCm39)	I218K	unknown	Het
Ddx23	A	G	15: 98,554,481 (GRCm39)		probably null	Het
Dmkn	A	G	7: 30,464,719 (GRCm39)	S231G	probably benign	Het
Ep300	T	C	15: 81,525,514 (GRCm39)	I1446T	unknown	Het
Fmnl1	T	C	11: 103,080,795 (GRCm39)	F318S	probably damaging	Het
Grik5	A	T	7: 24,722,805 (GRCm39)	V497E	probably damaging	Het
Gtf2ird2	T	C	5: 134,242,925 (GRCm39)	Y380H	probably damaging	Het
Hecw2	C	T	1: 53,907,990 (GRCm39)		probably benign	Het
Hspb7	A	G	4: 141,151,358 (GRCm39)	I167V	probably damaging	Het
Kcnh2	T	A	5: 24,527,700 (GRCm39)	N884I	probably benign	Het
Krba1	T	C	6: 48,382,159 (GRCm39)		probably benign	Het
Krt18	G	T	15: 101,939,409 (GRCm39)	R294L	probably benign	Het
Lctl	T	A	9: 64,029,389 (GRCm39)	M1K	probably null	Het
Lingo2	G	A	4: 35,708,375 (GRCm39)	S535F	possibly damaging	Het
Lrba	A	C	3: 86,449,995 (GRCm39)	N2105H	probably damaging	Het
Lrrc10	A	G	10: 116,881,419 (GRCm39)	D31G	probably damaging	Het
Lrrtm1	T	A	6: 77,220,855 (GRCm39)	V104E	probably damaging	Het
Mgat3	C	T	15: 80,096,778 (GRCm39)	T535I	probably benign	Het
Nav3	T	C	10: 109,552,503 (GRCm39)	I1780V	possibly damaging	Het
Nlrc4	A	G	17: 74,753,826 (GRCm39)	W186R	probably damaging	Het
Nr2c1	T	A	10: 94,024,117 (GRCm39)	F441I	probably benign	Het
Obscn	A	G	11: 58,942,347 (GRCm39)		probably benign	Het
Or1p1	T	C	11: 74,179,501 (GRCm39)	F10L	probably benign	Het
Or2a56	T	C	6: 42,932,707 (GRCm39)	S92P	probably benign	Het
Or56b34	T	C	7: 104,937,726 (GRCm39)	V142A	probably damaging	Het
Or5au1	T	C	14: 52,273,442 (GRCm39)	N42S	possibly damaging	Het
Osr1	A	T	12: 9,629,691 (GRCm39)	Y188F	probably damaging	Het
Pak2	A	T	16: 31,852,661 (GRCm39)	N293K	possibly damaging	Het
Pappa	A	T	4: 65,226,049 (GRCm39)	T1301S	probably damaging	Het
Pde4dip	G	A	3: 97,660,442 (GRCm39)	Q679*	probably null	Het
Pik3r5	T	A	11: 68,377,448 (GRCm39)		probably null	Het
Plbd2	C	T	5: 120,624,104 (GRCm39)		probably null	Het
Ppp1r3a	G	T	6: 14,754,516 (GRCm39)	P244T	possibly damaging	Het
Pum1	C	A	4: 130,499,985 (GRCm39)	R960S	probably benign	Het
Ralgapb	T	C	2: 158,315,169 (GRCm39)	Y845H	probably damaging	Het
Rbms1	A	T	2: 60,589,179 (GRCm39)	M287K	possibly damaging	Het
Rdh1	A	T	10: 127,595,906 (GRCm39)	I34F	probably damaging	Het
Rgl3	T	A	9: 21,885,398 (GRCm39)	Q644L	probably benign	Het
Rpap2	T	C	5: 107,768,340 (GRCm39)	S393P	probably damaging	Het
Rsad2	T	C	12: 26,506,376 (GRCm39)	S15G	probably damaging	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
S100a11	A	C	3: 93,431,509 (GRCm39)		probably null	Het
Septin4	T	C	11: 87,472,022 (GRCm39)	S11P	probably benign	Het
Serpina1c	T	C	12: 103,862,350 (GRCm39)	S322G	probably benign	Het
Setdb1	A	T	3: 95,248,762 (GRCm39)	C385S	probably damaging	Het
Shank2	A	T	7: 143,746,204 (GRCm39)	I193F	possibly damaging	Het
Slc4a11	G	T	2: 130,528,221 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tbcd	C	A	11: 121,485,100 (GRCm39)	Q761K	probably benign	Het
Tmed6	C	T	8: 107,792,198 (GRCm39)	V16M	probably damaging	Het
Tmem229a	T	C	6: 24,955,701 (GRCm39)	T18A	probably benign	Het
Tsc1	T	A	2: 28,568,955 (GRCm39)		probably benign	Het
Ube2m	T	C	7: 12,769,657 (GRCm39)	N49D	probably damaging	Het
Ubqlnl	T	C	7: 103,799,254 (GRCm39)	D81G	probably damaging	Het
Vmn2r56	A	G	7: 12,449,332 (GRCm39)	V302A	probably benign	Het
Vmn2r73	T	A	7: 85,525,075 (GRCm39)	R24S	probably benign	Het
Wfs1	C	A	5: 37,130,538 (GRCm39)	S236I	probably damaging	Het
Yipf3	A	G	17: 46,562,503 (GRCm39)	T303A	probably benign	Het
Zfp790	T	C	7: 29,524,300 (GRCm39)	W19R	probably damaging	Het
Zfp846	T	C	9: 20,505,303 (GRCm39)	C388R	probably benign	Het
Zpr1	T	A	9: 46,184,634 (GRCm39)	I47N	probably damaging	Het

Other mutations in Xpot

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Xpot	APN	10	121,441,549 (GRCm39)	missense	probably benign
IGL01286:Xpot	APN	10	121,438,243 (GRCm39)	missense	probably benign	0.03
IGL01364:Xpot	APN	10	121,440,399 (GRCm39)	missense	probably benign	0.08
IGL01370:Xpot	APN	10	121,440,399 (GRCm39)	missense	probably benign	0.08
IGL01516:Xpot	APN	10	121,426,127 (GRCm39)	splice site	probably null
IGL01530:Xpot	APN	10	121,447,433 (GRCm39)	missense	probably damaging	0.99
IGL02047:Xpot	APN	10	121,437,267 (GRCm39)	unclassified	probably benign
IGL02207:Xpot	APN	10	121,449,485 (GRCm39)	missense	probably damaging	1.00
IGL02340:Xpot	APN	10	121,451,109 (GRCm39)	missense	probably damaging	1.00
IGL02408:Xpot	APN	10	121,439,070 (GRCm39)	missense	probably damaging	1.00
IGL03150:Xpot	APN	10	121,445,091 (GRCm39)	missense	probably benign	0.00
IGL03210:Xpot	APN	10	121,451,132 (GRCm39)	splice site	probably benign
3-1:Xpot	UTSW	10	121,449,264 (GRCm39)	missense	probably benign	0.00
R1750:Xpot	UTSW	10	121,438,932 (GRCm39)	critical splice donor site	probably null
R1806:Xpot	UTSW	10	121,443,543 (GRCm39)	splice site	probably benign
R1950:Xpot	UTSW	10	121,455,053 (GRCm39)	missense	probably benign
R2227:Xpot	UTSW	10	121,458,765 (GRCm39)	missense	probably damaging	0.98
R2304:Xpot	UTSW	10	121,447,488 (GRCm39)	missense	probably benign	0.02
R3914:Xpot	UTSW	10	121,440,443 (GRCm39)	missense	possibly damaging	0.72
R4784:Xpot	UTSW	10	121,450,968 (GRCm39)	splice site	probably null
R4884:Xpot	UTSW	10	121,442,713 (GRCm39)	missense	probably damaging	1.00
R4904:Xpot	UTSW	10	121,453,083 (GRCm39)	missense	probably benign	0.00
R5218:Xpot	UTSW	10	121,455,043 (GRCm39)	missense	probably damaging	0.99
R5361:Xpot	UTSW	10	121,436,765 (GRCm39)	missense	possibly damaging	0.71
R5651:Xpot	UTSW	10	121,440,454 (GRCm39)	missense	probably damaging	0.99
R5894:Xpot	UTSW	10	121,449,551 (GRCm39)	missense	probably damaging	1.00
R5915:Xpot	UTSW	10	121,450,998 (GRCm39)	missense	probably damaging	0.97
R6139:Xpot	UTSW	10	121,447,613 (GRCm39)	missense	probably benign	0.41
R6182:Xpot	UTSW	10	121,442,163 (GRCm39)	missense	probably damaging	1.00
R6896:Xpot	UTSW	10	121,449,390 (GRCm39)	critical splice donor site	probably null
R7024:Xpot	UTSW	10	121,438,304 (GRCm39)	missense	probably benign	0.35
R7146:Xpot	UTSW	10	121,442,678 (GRCm39)	missense	probably damaging	1.00
R7272:Xpot	UTSW	10	121,453,094 (GRCm39)	critical splice acceptor site	probably null
R7556:Xpot	UTSW	10	121,449,411 (GRCm39)	missense	probably benign	0.01
R7882:Xpot	UTSW	10	121,454,996 (GRCm39)	critical splice donor site	probably null
R7916:Xpot	UTSW	10	121,458,848 (GRCm39)	start gained	probably benign
R8087:Xpot	UTSW	10	121,437,232 (GRCm39)	missense	probably benign
R8224:Xpot	UTSW	10	121,443,513 (GRCm39)	missense	probably damaging	1.00
R8303:Xpot	UTSW	10	121,447,405 (GRCm39)	nonsense	probably null
R9036:Xpot	UTSW	10	121,447,580 (GRCm39)	missense	probably damaging	1.00
R9046:Xpot	UTSW	10	121,432,149 (GRCm39)	nonsense	probably null
R9393:Xpot	UTSW	10	121,445,600 (GRCm39)	critical splice donor site	probably null
R9716:Xpot	UTSW	10	121,447,392 (GRCm39)	missense	probably benign
Z1088:Xpot	UTSW	10	121,437,228 (GRCm39)	missense	probably damaging	0.99
Z1176:Xpot	UTSW	10	121,453,079 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACAAGCTGGCAAACGGATCTC -3'
(R):5'- ACACAGCCTGCTGTACATAGTGTTC -3'

Sequencing Primer
(F):5'- ACGGATCTCAGTAAACTCTGC -3'
(R):5'- TGCCTTGACAGTGCATCG -3'

Posted On

2013-04-11