Incidental Mutation 'R6031:Ipo4'
ID 480422
Institutional Source Beutler Lab
Gene Symbol Ipo4
Ensembl Gene ENSMUSG00000002319
Gene Name importin 4
Synonyms 8430408O15Rik
MMRRC Submission 044203-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R6031 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 55862857-55873321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55869596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 355 (P355S)
Ref Sequence ENSEMBL: ENSMUSP00000123692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002391] [ENSMUST00000047131] [ENSMUST00000120041] [ENSMUST00000121791] [ENSMUST00000121937] [ENSMUST00000122358] [ENSMUST00000135221] [ENSMUST00000141499] [ENSMUST00000125133] [ENSMUST00000148351] [ENSMUST00000149726]
AlphaFold Q8VI75
Predicted Effect probably benign
Transcript: ENSMUST00000002391
SMART Domains Protein: ENSMUSP00000002391
Gene: ENSMUSG00000002320

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:EMP70 57 564 1.3e-187 PFAM
transmembrane domain 569 591 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000047131
AA Change: P355S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036555
Gene: ENSMUSG00000002319
AA Change: P355S

DomainStartEndE-ValueType
IBN_N 24 90 4.4e-7 SMART
Blast:IBN_N 101 170 4e-20 BLAST
Blast:IBN_N 224 293 4e-31 BLAST
low complexity region 307 321 N/A INTRINSIC
Pfam:HEAT 395 425 7.7e-7 PFAM
Blast:ARM 465 499 8e-13 BLAST
low complexity region 500 511 N/A INTRINSIC
low complexity region 636 660 N/A INTRINSIC
low complexity region 733 743 N/A INTRINSIC
low complexity region 811 830 N/A INTRINSIC
low complexity region 851 864 N/A INTRINSIC
Pfam:HEAT 901 931 1.9e-5 PFAM
Pfam:HEAT_EZ 914 969 2.3e-9 PFAM
low complexity region 1043 1053 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120041
SMART Domains Protein: ENSMUSP00000112893
Gene: ENSMUSG00000002320

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:EMP70 57 564 1.3e-187 PFAM
transmembrane domain 569 591 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121791
SMART Domains Protein: ENSMUSP00000112764
Gene: ENSMUSG00000002320

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:EMP70 57 564 1.3e-187 PFAM
transmembrane domain 569 591 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121937
SMART Domains Protein: ENSMUSP00000113143
Gene: ENSMUSG00000002320

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:EMP70 57 547 9e-169 PFAM
transmembrane domain 550 572 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122358
SMART Domains Protein: ENSMUSP00000113782
Gene: ENSMUSG00000002320

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:EMP70 58 563 2.3e-164 PFAM
transmembrane domain 569 591 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000135221
AA Change: P355S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123692
Gene: ENSMUSG00000002319
AA Change: P355S

DomainStartEndE-ValueType
IBN_N 24 90 4.4e-7 SMART
Blast:IBN_N 101 170 3e-20 BLAST
Blast:IBN_N 224 293 2e-31 BLAST
low complexity region 307 321 N/A INTRINSIC
Pfam:HEAT 395 425 7.4e-7 PFAM
Blast:ARM 465 499 7e-13 BLAST
low complexity region 500 511 N/A INTRINSIC
low complexity region 636 660 N/A INTRINSIC
low complexity region 733 743 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150951
Predicted Effect probably benign
Transcript: ENSMUST00000156420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127773
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126064
Predicted Effect probably benign
Transcript: ENSMUST00000141499
Predicted Effect probably benign
Transcript: ENSMUST00000125133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148942
Predicted Effect probably benign
Transcript: ENSMUST00000148351
SMART Domains Protein: ENSMUSP00000117543
Gene: ENSMUSG00000002319

DomainStartEndE-ValueType
IBN_N 24 90 4.4e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228754
Predicted Effect probably benign
Transcript: ENSMUST00000149726
SMART Domains Protein: ENSMUSP00000115403
Gene: ENSMUSG00000002320

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:EMP70 57 390 1.7e-103 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 96.7%
  • 20x: 88.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,214,084 (GRCm39) Y304H possibly damaging Het
Add2 A G 6: 86,075,655 (GRCm39) E268G probably damaging Het
Akr1b1 A C 6: 34,289,609 (GRCm39) V67G probably benign Het
Alms1 A T 6: 85,599,937 (GRCm39) N1588Y probably damaging Het
Arhgap23 A T 11: 97,366,965 (GRCm39) D1082V probably damaging Het
Asb6 A G 2: 30,714,207 (GRCm39) V301A probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Atg7 T A 6: 114,648,194 (GRCm39) C31S probably benign Het
Camsap2 A T 1: 136,208,176 (GRCm39) N1105K possibly damaging Het
Ccdc125 C T 13: 100,820,877 (GRCm39) probably null Het
Ccdc63 T C 5: 122,267,799 (GRCm39) I56V possibly damaging Het
Cpd T C 11: 76,681,714 (GRCm39) E1143G probably benign Het
Cpt1a T A 19: 3,421,556 (GRCm39) probably null Het
Creb3l2 A T 6: 37,311,369 (GRCm39) D473E probably benign Het
Crocc A T 4: 140,761,668 (GRCm39) probably null Het
Ctsd A T 7: 141,930,451 (GRCm39) C364S probably damaging Het
Disp2 G T 2: 118,620,275 (GRCm39) V336L probably benign Het
Efr3b A G 12: 4,017,106 (GRCm39) I782T possibly damaging Het
Fam98a A G 17: 75,846,427 (GRCm39) V230A probably damaging Het
Fat3 T A 9: 15,899,788 (GRCm39) T3082S probably benign Het
Frmd3 T C 4: 74,105,688 (GRCm39) Y445H probably damaging Het
Galt G A 4: 41,757,202 (GRCm39) R185Q probably benign Het
Gatb T C 3: 85,520,818 (GRCm39) I309T possibly damaging Het
Gfi1b G A 2: 28,503,820 (GRCm39) Q127* probably null Het
Gfpt1 C A 6: 87,063,302 (GRCm39) T563N probably damaging Het
Gria1 A G 11: 57,108,608 (GRCm39) D237G probably damaging Het
Hspbp1 A T 7: 4,666,465 (GRCm39) V305D probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Iars1 T C 13: 49,859,307 (GRCm39) V9A probably damaging Het
Jade2 G T 11: 51,717,413 (GRCm39) C314* probably null Het
Kri1 T C 9: 21,186,565 (GRCm39) E597G probably benign Het
Mcub A G 3: 129,720,038 (GRCm39) Y152H probably damaging Het
Med23 C T 10: 24,779,646 (GRCm39) R542* probably null Het
Ndc80 T C 17: 71,818,483 (GRCm39) N291S probably benign Het
Nop2 T C 6: 125,110,529 (GRCm39) probably null Het
Nrxn1 T C 17: 90,896,218 (GRCm39) N984S probably damaging Het
Ntm A C 9: 28,920,671 (GRCm39) L86R probably damaging Het
Numa1 T A 7: 101,661,219 (GRCm39) D1847E possibly damaging Het
Odf2l A G 3: 144,845,624 (GRCm39) Q334R probably damaging Het
Or10ak11 A T 4: 118,687,588 (GRCm39) probably null Het
Or2ag2 C T 7: 106,485,134 (GRCm39) V297I possibly damaging Het
Or4a39 T A 2: 89,237,316 (GRCm39) T36S probably damaging Het
Or5ac17 T C 16: 59,036,296 (GRCm39) R227G probably benign Het
Or6ae1 A T 7: 139,742,722 (GRCm39) V47E possibly damaging Het
Or6c203 A G 10: 129,010,224 (GRCm39) V222A probably benign Het
Pacc1 A G 1: 191,073,037 (GRCm39) R153G probably benign Het
Pcdhb19 A T 18: 37,630,776 (GRCm39) K190N probably damaging Het
Pdik1l A G 4: 134,006,352 (GRCm39) F197L probably damaging Het
Rnf113a2 T C 12: 84,464,764 (GRCm39) F219L probably damaging Het
Rnf208 A C 2: 25,133,776 (GRCm39) T157P probably damaging Het
Scn8a A T 15: 100,881,865 (GRCm39) D644V probably damaging Het
Thbs3 T A 3: 89,125,401 (GRCm39) C204S probably damaging Het
Tlr3 A G 8: 45,851,565 (GRCm39) I444T probably damaging Het
Trpm8 A T 1: 88,282,191 (GRCm39) I696F possibly damaging Het
Ttn A T 2: 76,660,941 (GRCm39) V7422D possibly damaging Het
Ufl1 A G 4: 25,278,038 (GRCm39) V139A probably benign Het
Uggt2 A T 14: 119,308,238 (GRCm39) V381D probably benign Het
Vgll3 T A 16: 65,636,367 (GRCm39) Y173N probably damaging Het
Vmn1r9 A G 6: 57,048,158 (GRCm39) T78A probably benign Het
Vps13b T A 15: 35,472,114 (GRCm39) L806M probably damaging Het
Vps13d A C 4: 144,895,079 (GRCm39) H394Q probably benign Het
Wdr53 T A 16: 32,075,536 (GRCm39) V247D probably damaging Het
Wdr81 A T 11: 75,338,695 (GRCm39) L1488Q probably damaging Het
Zc3h6 A G 2: 128,809,732 (GRCm39) D3G possibly damaging Het
Zfp93 G T 7: 23,975,725 (GRCm39) C570F probably damaging Het
Zfp943 C T 17: 22,212,357 (GRCm39) T481I probably benign Het
Other mutations in Ipo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0268:Ipo4 UTSW 14 55,863,399 (GRCm39) missense possibly damaging 0.92
R0277:Ipo4 UTSW 14 55,869,572 (GRCm39) missense probably benign 0.03
R0344:Ipo4 UTSW 14 55,863,399 (GRCm39) missense possibly damaging 0.92
R0467:Ipo4 UTSW 14 55,872,983 (GRCm39) start codon destroyed probably null
R1167:Ipo4 UTSW 14 55,872,477 (GRCm39) missense probably damaging 1.00
R1217:Ipo4 UTSW 14 55,871,816 (GRCm39) missense probably damaging 0.98
R1804:Ipo4 UTSW 14 55,866,913 (GRCm39) missense probably damaging 1.00
R2270:Ipo4 UTSW 14 55,871,557 (GRCm39) missense probably damaging 1.00
R3551:Ipo4 UTSW 14 55,870,560 (GRCm39) missense probably benign 0.10
R4561:Ipo4 UTSW 14 55,867,546 (GRCm39) splice site probably benign
R4801:Ipo4 UTSW 14 55,868,671 (GRCm39) missense probably damaging 1.00
R4802:Ipo4 UTSW 14 55,868,671 (GRCm39) missense probably damaging 1.00
R4804:Ipo4 UTSW 14 55,868,313 (GRCm39) missense possibly damaging 0.80
R5384:Ipo4 UTSW 14 55,863,653 (GRCm39) missense probably benign 0.28
R5493:Ipo4 UTSW 14 55,868,327 (GRCm39) missense probably benign 0.00
R5527:Ipo4 UTSW 14 55,869,507 (GRCm39) splice site probably null
R5631:Ipo4 UTSW 14 55,870,838 (GRCm39) missense probably benign 0.08
R5631:Ipo4 UTSW 14 55,869,526 (GRCm39) missense probably damaging 1.00
R5788:Ipo4 UTSW 14 55,866,277 (GRCm39) missense probably benign 0.02
R5929:Ipo4 UTSW 14 55,868,646 (GRCm39) missense probably benign 0.03
R6018:Ipo4 UTSW 14 55,863,609 (GRCm39) critical splice donor site probably null
R6031:Ipo4 UTSW 14 55,869,596 (GRCm39) missense probably damaging 1.00
R6707:Ipo4 UTSW 14 55,866,361 (GRCm39) missense possibly damaging 0.82
R7344:Ipo4 UTSW 14 55,872,988 (GRCm39) missense probably benign 0.00
R7345:Ipo4 UTSW 14 55,872,988 (GRCm39) missense probably benign 0.00
R7702:Ipo4 UTSW 14 55,869,787 (GRCm39) missense probably damaging 1.00
R9028:Ipo4 UTSW 14 55,866,408 (GRCm39) missense probably damaging 1.00
R9197:Ipo4 UTSW 14 55,870,840 (GRCm39) missense probably damaging 1.00
R9202:Ipo4 UTSW 14 55,868,597 (GRCm39) critical splice donor site probably null
R9244:Ipo4 UTSW 14 55,871,799 (GRCm39) missense probably damaging 1.00
R9547:Ipo4 UTSW 14 55,870,789 (GRCm39) critical splice donor site probably null
Predicted Primers
Posted On 2017-06-26