Incidental Mutation 'IGL02947:Kpna7'
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ID364784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kpna7
Ensembl Gene ENSMUSG00000038770
Gene Namekaryopherin alpha 7 (importin alpha 8)
SynonymsLOC381686
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.362) question?
Stock #IGL02947
Quality Score
Status
Chromosome5
Chromosomal Location144983519-145084030 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 144994074 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 320 (I320M)
Ref Sequence ENSEMBL: ENSMUSP00000106301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110672] [ENSMUST00000110673] [ENSMUST00000116454]
Predicted Effect probably damaging
Transcript: ENSMUST00000110672
AA Change: I299M

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106300
Gene: ENSMUSG00000038770
AA Change: I299M

DomainStartEndE-ValueType
Pfam:IBB 2 91 1.7e-14 PFAM
ARM 100 141 1.4e-8 SMART
ARM 143 183 6.18e-10 SMART
ARM 185 226 1.78e-1 SMART
ARM 229 268 4.28e-4 SMART
ARM 270 310 1.19e-2 SMART
ARM 312 352 5.27e-4 SMART
ARM 354 393 2.85e0 SMART
ARM 396 436 8.17e-1 SMART
low complexity region 486 497 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110673
AA Change: I320M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106301
Gene: ENSMUSG00000038770
AA Change: I320M

DomainStartEndE-ValueType
Pfam:IBB 6 90 2.7e-19 PFAM
ARM 100 141 1.4e-8 SMART
ARM 143 183 3.31e-10 SMART
ARM 206 247 1.78e-1 SMART
ARM 250 289 4.28e-4 SMART
ARM 291 331 1.19e-2 SMART
ARM 333 373 5.27e-4 SMART
ARM 375 414 2.85e0 SMART
ARM 417 457 8.17e-1 SMART
Pfam:Arm_3 466 517 8.9e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000116454
AA Change: I299M

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112155
Gene: ENSMUSG00000038770
AA Change: I299M

DomainStartEndE-ValueType
Pfam:IBB 2 91 1.7e-14 PFAM
ARM 100 141 1.4e-8 SMART
ARM 143 183 6.18e-10 SMART
ARM 185 226 1.78e-1 SMART
ARM 229 268 4.28e-4 SMART
ARM 270 310 1.19e-2 SMART
ARM 312 352 5.27e-4 SMART
ARM 354 393 2.85e0 SMART
ARM 396 436 8.17e-1 SMART
low complexity region 486 497 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142866
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 molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous or heterozygous for a null mutation display smaller litter sizes with preferential loss of females and accelerated cell cycles post fertilization resulting in loss of embryos. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001L19Rik T A 13: 68,611,193 F95L probably benign Het
Aasdh A G 5: 76,902,110 V13A probably benign Het
Atp8b5 T A 4: 43,305,774 I106K possibly damaging Het
Cdh15 T C 8: 122,865,372 S633P probably benign Het
Celsr3 A G 9: 108,845,935 T228A probably benign Het
Chrng A G 1: 87,209,884 probably null Het
Coprs T C 8: 13,885,782 E79G probably damaging Het
Cpb2 A C 14: 75,283,318 Y391S probably damaging Het
Cyp2j8 A T 4: 96,470,578 I368N probably damaging Het
Ddah1 T C 3: 145,759,087 F76L probably benign Het
Eif2ak4 A G 2: 118,431,033 T573A probably benign Het
Exoc6b T A 6: 84,858,429 M375L probably benign Het
Fasn T C 11: 120,815,676 E994G probably damaging Het
Fem1a T A 17: 56,258,640 C578S probably benign Het
Garnl3 A G 2: 33,046,594 S188P probably damaging Het
Gpn3 T C 5: 122,378,488 V60A possibly damaging Het
Hnrnpr A G 4: 136,316,379 D59G probably damaging Het
Hydin A T 8: 110,418,462 E815V probably damaging Het
Itga9 C T 9: 118,658,533 T228M probably damaging Het
Lnpep T C 17: 17,570,972 T437A probably damaging Het
Ltf C T 9: 111,038,947 T48I probably benign Het
Masp1 T G 16: 23,494,726 D153A probably damaging Het
Mcpt9 T A 14: 56,026,916 R241* probably null Het
Msantd4 T A 9: 4,384,787 S171T probably damaging Het
Nos1 G A 5: 117,943,317 V1229M probably damaging Het
Npc1l1 A G 11: 6,229,246 S55P probably benign Het
Oc90 T C 15: 65,888,134 K212R probably benign Het
Olfr1095 C T 2: 86,850,786 R304K probably benign Het
Olfr446 A G 6: 42,927,896 I222V probably benign Het
Olfr771 C A 10: 129,160,570 C138F probably damaging Het
Prr12 T A 7: 45,048,556 Q645L unknown Het
Psmd9 A G 5: 123,246,215 I145V probably benign Het
Rbks T C 5: 31,660,063 I121V probably benign Het
Rnase2b A T 14: 51,162,807 Y115F probably damaging Het
Sarnp A G 10: 128,839,854 E78G probably benign Het
Sltm A G 9: 70,591,664 S1007G probably benign Het
Spata31d1c T A 13: 65,034,945 Y100* probably null Het
Srrm2 T C 17: 23,810,746 S222P probably benign Het
Sult3a1 G A 10: 33,864,050 R35Q possibly damaging Het
Tfap4 T C 16: 4,551,360 D132G probably damaging Het
Tmem53 C T 4: 117,268,088 Q111* probably null Het
Togaram1 T A 12: 65,021,500 V1709D probably damaging Het
Trpm3 A T 19: 22,901,119 D628V probably damaging Het
Ttn T A 2: 76,714,494 K31009* probably null Het
Vldlr A G 19: 27,239,720 I58V probably benign Het
Vmn1r4 T C 6: 56,957,246 F245S probably benign Het
Vrtn T A 12: 84,648,484 S3T probably damaging Het
Vwa7 A G 17: 35,023,500 probably null Het
Wrnip1 T A 13: 32,822,070 Y632N probably damaging Het
Other mutations in Kpna7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00659:Kpna7 APN 5 145007246 missense probably damaging 1.00
IGL01505:Kpna7 APN 5 144992851 missense probably damaging 1.00
IGL02009:Kpna7 APN 5 144994078 critical splice acceptor site probably null
IGL02365:Kpna7 APN 5 144985733 missense possibly damaging 0.49
IGL03195:Kpna7 APN 5 144997037 missense probably damaging 1.00
IGL03236:Kpna7 APN 5 144985694 missense unknown
IGL03333:Kpna7 APN 5 145005955 missense possibly damaging 0.48
PIT4515001:Kpna7 UTSW 5 145005052 missense probably benign 0.17
R0027:Kpna7 UTSW 5 144989697 missense probably damaging 0.99
R0421:Kpna7 UTSW 5 144989741 missense possibly damaging 0.82
R0463:Kpna7 UTSW 5 145007994 missense possibly damaging 0.66
R2229:Kpna7 UTSW 5 144989697 missense probably damaging 0.99
R2871:Kpna7 UTSW 5 144993935 missense probably benign 0.06
R2871:Kpna7 UTSW 5 144993935 missense probably benign 0.06
R2873:Kpna7 UTSW 5 144993935 missense probably benign 0.06
R2874:Kpna7 UTSW 5 144993935 missense probably benign 0.06
R4079:Kpna7 UTSW 5 145005927 missense possibly damaging 0.82
R5841:Kpna7 UTSW 5 144993956 missense possibly damaging 0.73
R5888:Kpna7 UTSW 5 144989795 missense probably damaging 0.98
R6188:Kpna7 UTSW 5 144992844 missense probably damaging 1.00
R7163:Kpna7 UTSW 5 145002396 missense unknown
R7502:Kpna7 UTSW 5 145005921 missense probably benign 0.07
R7727:Kpna7 UTSW 5 145005045 missense probably benign 0.19
X0021:Kpna7 UTSW 5 145007233 missense probably benign 0.12
Posted On2015-12-18