Incidental Mutation 'IGL02826:Xpo4'
List |< first << previous [record 43 of 46] next >> last >|
ID361216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xpo4
Ensembl Gene ENSMUSG00000021952
Gene Nameexportin 4
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.784) question?
Stock #IGL02826
Quality Score
Status
Chromosome14
Chromosomal Location57577521-57665430 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 57629420 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 222 (V222L)
Ref Sequence ENSEMBL: ENSMUSP00000133280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089482] [ENSMUST00000174152] [ENSMUST00000174545]
Predicted Effect probably benign
Transcript: ENSMUST00000089482
AA Change: V222L

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: V222L

DomainStartEndE-ValueType
Blast:IBN_N 37 103 8e-19 BLAST
low complexity region 165 174 N/A INTRINSIC
low complexity region 459 468 N/A INTRINSIC
low complexity region 506 517 N/A INTRINSIC
low complexity region 911 922 N/A INTRINSIC
Pfam:CRM1_C 954 1144 6.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174152
Predicted Effect possibly damaging
Transcript: ENSMUST00000174545
AA Change: V222L

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: V222L

DomainStartEndE-ValueType
Blast:IBN_N 37 103 8e-19 BLAST
low complexity region 165 174 N/A INTRINSIC
low complexity region 459 468 N/A INTRINSIC
low complexity region 506 517 N/A INTRINSIC
low complexity region 911 922 N/A INTRINSIC
Pfam:CRM1_C 952 1143 5.2e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] XPO4 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments (Lipowsky et al., 2000 [PubMed 10944119]).[supplied by OMIM, Mar 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele appear phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik A C 16: 90,926,062 D261E probably benign Het
1810041L15Rik A G 15: 84,420,129 probably benign Het
4930404N11Rik A G 10: 81,364,736 probably benign Het
A3galt2 T C 4: 128,761,509 probably benign Het
Alk C T 17: 71,869,536 G1591D probably damaging Het
Angptl2 T C 2: 33,228,315 S34P probably benign Het
Atp2a2 A G 5: 122,489,291 V137A probably benign Het
Atp8b5 A G 4: 43,366,770 M845V probably damaging Het
Camk1d A G 2: 5,565,760 V30A possibly damaging Het
Ceacam19 G A 7: 19,882,610 T193I probably benign Het
Chst15 T A 7: 132,266,746 D315V probably damaging Het
Cux1 G T 5: 136,308,003 P885Q probably damaging Het
Cyth1 C T 11: 118,185,481 E88K possibly damaging Het
Dido1 A G 2: 180,683,958 V479A probably benign Het
Dlc1 G T 8: 36,570,275 probably benign Het
H2-Ab1 G A 17: 34,264,911 R82Q probably damaging Het
Hps6 T A 19: 46,006,041 *806K probably null Het
Ilf3 T C 9: 21,398,044 S486P probably benign Het
Kdm1b C A 13: 47,080,467 T759K probably damaging Het
Kirrel C A 3: 87,088,485 V381F probably damaging Het
Kmt2b A T 7: 30,577,144 V1701E probably damaging Het
Lrmda T C 14: 22,828,737 Y100H probably damaging Het
Mastl T C 2: 23,145,409 I169V probably damaging Het
Mroh2b A G 15: 4,962,148 E1576G probably damaging Het
Nek3 A T 8: 22,160,368 probably null Het
Nipal3 G T 4: 135,468,550 Y247* probably null Het
Nt5e A C 9: 88,355,705 K229N probably damaging Het
Olfr237-ps1 A G 6: 43,153,577 I91V possibly damaging Het
Olfr974 G T 9: 39,942,958 G233C probably damaging Het
Opa1 A G 16: 29,610,887 M290V probably null Het
Parp2 T A 14: 50,815,415 I155K probably benign Het
Pde4dip G T 3: 97,767,087 A171E probably damaging Het
Prom2 C T 2: 127,531,116 E678K probably benign Het
Rab12 A G 17: 66,498,116 probably benign Het
Rgs8 A T 1: 153,670,799 T13S probably damaging Het
Setd3 A G 12: 108,112,124 probably benign Het
Slx4ip G A 2: 137,004,973 V53I probably damaging Het
Stil A G 4: 115,024,098 D613G probably benign Het
Tjp3 T A 10: 81,273,689 S858C probably damaging Het
Tmem215 A G 4: 40,474,632 *236W probably null Het
Ttbk1 A G 17: 46,470,660 V389A probably benign Het
Wdfy4 A G 14: 32,971,750 F2706S possibly damaging Het
Zfc3h1 A G 10: 115,400,904 S428G probably benign Het
Zfp286 T C 11: 62,787,960 Q47R probably damaging Het
Zfp318 A G 17: 46,398,754 K468E probably damaging Het
Other mutations in Xpo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01944:Xpo4 APN 14 57604398 missense probably benign
IGL02537:Xpo4 APN 14 57593833 missense probably benign
IGL02554:Xpo4 APN 14 57590088 missense probably benign 0.00
IGL03071:Xpo4 APN 14 57618228 missense possibly damaging 0.66
PIT4131001:Xpo4 UTSW 14 57584611 missense probably null 0.98
R0245:Xpo4 UTSW 14 57630240 missense probably damaging 1.00
R0546:Xpo4 UTSW 14 57613274 missense probably benign 0.07
R0606:Xpo4 UTSW 14 57638208 unclassified probably benign
R0761:Xpo4 UTSW 14 57613383 missense probably damaging 0.99
R1775:Xpo4 UTSW 14 57603672 missense probably benign
R1853:Xpo4 UTSW 14 57585907 missense possibly damaging 0.72
R1923:Xpo4 UTSW 14 57590871 missense probably damaging 0.98
R2007:Xpo4 UTSW 14 57586644 missense probably null 0.19
R2035:Xpo4 UTSW 14 57585926 missense possibly damaging 0.57
R2174:Xpo4 UTSW 14 57590090 missense probably damaging 1.00
R2421:Xpo4 UTSW 14 57629503 missense probably benign 0.00
R2937:Xpo4 UTSW 14 57604440 missense probably benign 0.03
R2938:Xpo4 UTSW 14 57604440 missense probably benign 0.03
R4066:Xpo4 UTSW 14 57588054 missense probably benign 0.07
R4086:Xpo4 UTSW 14 57643033 intron probably benign
R4373:Xpo4 UTSW 14 57591022 nonsense probably null
R4620:Xpo4 UTSW 14 57630325 missense probably damaging 1.00
R4703:Xpo4 UTSW 14 57590108 missense probably benign 0.01
R4755:Xpo4 UTSW 14 57618181 missense probably benign 0.01
R4831:Xpo4 UTSW 14 57590102 missense probably damaging 1.00
R4905:Xpo4 UTSW 14 57638289 missense possibly damaging 0.70
R4943:Xpo4 UTSW 14 57638240 missense possibly damaging 0.68
R5074:Xpo4 UTSW 14 57584641 missense probably benign 0.02
R5279:Xpo4 UTSW 14 57613409 missense probably benign 0.37
R5375:Xpo4 UTSW 14 57638307 missense probably damaging 0.99
R5690:Xpo4 UTSW 14 57590989 missense probably benign 0.03
R5936:Xpo4 UTSW 14 57643499 missense probably benign
R6393:Xpo4 UTSW 14 57638313 missense probably damaging 1.00
R6824:Xpo4 UTSW 14 57613403 missense probably damaging 1.00
R6893:Xpo4 UTSW 14 57582310 missense probably benign
R6923:Xpo4 UTSW 14 57603711 missense probably benign 0.19
R7028:Xpo4 UTSW 14 57597051 missense probably benign 0.22
R7442:Xpo4 UTSW 14 57630223 missense probably benign 0.00
R7469:Xpo4 UTSW 14 57597979 missense probably benign
R7490:Xpo4 UTSW 14 57602621 frame shift probably null
R7622:Xpo4 UTSW 14 57597011 missense possibly damaging 0.94
R7667:Xpo4 UTSW 14 57589959 missense probably damaging 0.97
R7789:Xpo4 UTSW 14 57613349 missense probably benign 0.00
R7895:Xpo4 UTSW 14 57602591 missense probably benign 0.03
R8000:Xpo4 UTSW 14 57589946 missense probably damaging 1.00
R8372:Xpo4 UTSW 14 57597884 critical splice donor site probably null
R8395:Xpo4 UTSW 14 57648467 missense probably benign 0.01
R8420:Xpo4 UTSW 14 57604456 missense probably damaging 0.99
R8836:Xpo4 UTSW 14 57664910 missense probably benign 0.03
R8841:Xpo4 UTSW 14 57597956 missense probably damaging 0.97
Posted On2015-12-18