Incidental Mutation 'IGL01505:Kpna7'
ID 89014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kpna7
Ensembl Gene ENSMUSG00000038770
Gene Name karyopherin subunit alpha 7
Synonyms LOC381686, importin alpha 2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.322) question?
Stock # IGL01505
Quality Score
Status
Chromosome 5
Chromosomal Location 144920537-144946446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144929661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 388 (V388A)
Ref Sequence ENSEMBL: ENSMUSP00000112155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110672] [ENSMUST00000110673] [ENSMUST00000116454]
AlphaFold C0LLJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000110672
AA Change: V388A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106300
Gene: ENSMUSG00000038770
AA Change: V388A

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: V409A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106301
Gene: ENSMUSG00000038770
AA Change: V409A

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: V388A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112155
Gene: ENSMUSG00000038770
AA Change: V388A

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T C 18: 69,080,418 (GRCm39) probably null Het
A2m A G 6: 121,653,906 (GRCm39) N1413S possibly damaging Het
Aadacl4fm4 C T 4: 144,401,188 (GRCm39) V99M probably damaging Het
Arhgap45 A T 10: 79,862,376 (GRCm39) N488Y probably benign Het
Arid4a G A 12: 71,083,889 (GRCm39) D94N probably damaging Het
Atp7a A G X: 105,153,436 (GRCm39) K1114E probably damaging Het
Atp8a2 C T 14: 60,265,512 (GRCm39) V275M probably benign Het
Ceacam12 T C 7: 17,801,357 (GRCm39) V112A probably damaging Het
Cep295 T A 9: 15,229,345 (GRCm39) D2256V probably benign Het
Chid1 A T 7: 141,093,807 (GRCm39) probably null Het
Clcn5 A T X: 7,036,678 (GRCm39) L268* probably null Het
Cldn17 A G 16: 88,303,591 (GRCm39) I46T possibly damaging Het
Cnot1 A T 8: 96,455,346 (GRCm39) I2025N probably damaging Het
Cntn5 C T 9: 9,706,092 (GRCm39) V574M probably damaging Het
Col14a1 T A 15: 55,318,619 (GRCm39) C1373S unknown Het
Col9a1 A G 1: 24,224,205 (GRCm39) N129S unknown Het
Cp C T 3: 20,031,356 (GRCm39) P598S possibly damaging Het
Cpb1 G A 3: 20,320,410 (GRCm39) R150C probably damaging Het
Cyp2j7 T A 4: 96,115,917 (GRCm39) probably null Het
Dnajb7 T C 15: 81,291,692 (GRCm39) E215G possibly damaging Het
Dock1 G A 7: 134,760,239 (GRCm39) R1634Q possibly damaging Het
Dop1b A G 16: 93,554,004 (GRCm39) T313A possibly damaging Het
Fgd2 T A 17: 29,585,971 (GRCm39) V185E probably damaging Het
Flnb T C 14: 7,902,003 (GRCm38) probably null Het
Fzd7 A G 1: 59,523,062 (GRCm39) E315G probably benign Het
Gjd3 T A 11: 102,691,552 (GRCm39) K150N probably benign Het
Gpihbp1 C T 15: 75,469,977 (GRCm39) probably benign Het
Gpr160 T C 3: 30,950,002 (GRCm39) S25P possibly damaging Het
Grsf1 G A 5: 88,820,608 (GRCm39) R58* probably null Het
Ifit1 T A 19: 34,625,854 (GRCm39) M330K probably benign Het
Igkv1-122 T C 6: 67,994,178 (GRCm39) V22A probably benign Het
Ikbke A T 1: 131,183,048 (GRCm39) D692E probably benign Het
Il15ra T C 2: 11,737,956 (GRCm39) probably benign Het
Il18rap A G 1: 40,576,244 (GRCm39) I252V probably damaging Het
Klra10 C T 6: 130,249,680 (GRCm39) G202R probably damaging Het
L2hgdh A G 12: 69,768,175 (GRCm39) S108P probably damaging Het
Msto1 G A 3: 88,818,050 (GRCm39) T388M probably benign Het
Naip1 T C 13: 100,562,441 (GRCm39) E908G probably damaging Het
Neto1 C A 18: 86,491,814 (GRCm39) D238E possibly damaging Het
Nlrp5 T A 7: 23,117,159 (GRCm39) D294E probably benign Het
Nr3c2 T C 8: 77,635,816 (GRCm39) S306P probably damaging Het
Or8b41 T A 9: 38,055,167 (GRCm39) C240* probably null Het
Pard3 T A 8: 128,050,544 (GRCm39) L202H probably damaging Het
Pdzd2 T C 15: 12,458,293 (GRCm39) N190S probably damaging Het
Pi4ka T C 16: 17,127,222 (GRCm39) D1077G probably benign Het
Pmfbp1 A C 8: 110,240,543 (GRCm39) L208F probably damaging Het
Pms1 C T 1: 53,246,130 (GRCm39) D470N probably benign Het
Prdm10 T C 9: 31,238,578 (GRCm39) F108L probably benign Het
Rab11fip1 A T 8: 27,644,804 (GRCm39) M327K possibly damaging Het
Slc37a4 T A 9: 44,311,261 (GRCm39) L184Q probably damaging Het
Smdt1 T C 15: 82,232,094 (GRCm39) probably benign Het
Smg6 A G 11: 75,047,117 (GRCm39) Y1270C probably damaging Het
Speer4f2 T A 5: 17,581,565 (GRCm39) V169E possibly damaging Het
Stpg2 C T 3: 139,023,214 (GRCm39) A410V probably benign Het
Tnrc6b T A 15: 80,764,164 (GRCm39) D555E probably benign Het
Tsg101 A G 7: 46,558,808 (GRCm39) Y46H probably damaging Het
Vmn2r111 G A 17: 22,767,553 (GRCm39) S648L probably benign Het
Vmn2r73 T A 7: 85,507,267 (GRCm39) R682* probably null Het
Xkr5 A T 8: 18,983,514 (GRCm39) I676N probably damaging Het
Other mutations in Kpna7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00659:Kpna7 APN 5 144,944,056 (GRCm39) missense probably damaging 1.00
IGL02009:Kpna7 APN 5 144,930,888 (GRCm39) critical splice acceptor site probably null
IGL02365:Kpna7 APN 5 144,922,543 (GRCm39) missense possibly damaging 0.49
IGL02947:Kpna7 APN 5 144,930,884 (GRCm39) missense probably damaging 1.00
IGL03195:Kpna7 APN 5 144,933,847 (GRCm39) missense probably damaging 1.00
IGL03236:Kpna7 APN 5 144,922,504 (GRCm39) missense unknown
IGL03333:Kpna7 APN 5 144,942,765 (GRCm39) missense possibly damaging 0.48
PIT4515001:Kpna7 UTSW 5 144,941,862 (GRCm39) missense probably benign 0.17
R0027:Kpna7 UTSW 5 144,926,507 (GRCm39) missense probably damaging 0.99
R0421:Kpna7 UTSW 5 144,926,551 (GRCm39) missense possibly damaging 0.82
R0463:Kpna7 UTSW 5 144,944,804 (GRCm39) missense possibly damaging 0.66
R2229:Kpna7 UTSW 5 144,926,507 (GRCm39) missense probably damaging 0.99
R2871:Kpna7 UTSW 5 144,930,745 (GRCm39) missense probably benign 0.06
R2871:Kpna7 UTSW 5 144,930,745 (GRCm39) missense probably benign 0.06
R2873:Kpna7 UTSW 5 144,930,745 (GRCm39) missense probably benign 0.06
R2874:Kpna7 UTSW 5 144,930,745 (GRCm39) missense probably benign 0.06
R4079:Kpna7 UTSW 5 144,942,737 (GRCm39) missense possibly damaging 0.82
R5841:Kpna7 UTSW 5 144,930,766 (GRCm39) missense possibly damaging 0.73
R5888:Kpna7 UTSW 5 144,926,605 (GRCm39) missense probably damaging 0.98
R6188:Kpna7 UTSW 5 144,929,654 (GRCm39) missense probably damaging 1.00
R7163:Kpna7 UTSW 5 144,939,206 (GRCm39) missense unknown
R7502:Kpna7 UTSW 5 144,942,731 (GRCm39) missense probably benign 0.07
R7727:Kpna7 UTSW 5 144,941,855 (GRCm39) missense probably benign 0.19
R8921:Kpna7 UTSW 5 144,941,840 (GRCm39) missense probably damaging 1.00
R9672:Kpna7 UTSW 5 144,944,776 (GRCm39) missense probably benign 0.31
X0021:Kpna7 UTSW 5 144,944,043 (GRCm39) missense probably benign 0.12
Posted On 2013-12-03