Incidental Mutation 'R7702:Ipo4'
ID 594087
Institutional Source Beutler Lab
Gene Symbol Ipo4
Ensembl Gene ENSMUSG00000002319
Gene Name importin 4
Synonyms 8430408O15Rik
MMRRC Submission 045763-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R7702 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55862857-55873321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 55869787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 343 (H343Q)
Ref Sequence ENSEMBL: ENSMUSP00000036555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002391] [ENSMUST00000047131] [ENSMUST00000120041] [ENSMUST00000121791] [ENSMUST00000121937] [ENSMUST00000122358] [ENSMUST00000125133] [ENSMUST00000135221] [ENSMUST00000141499] [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: H343Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036555
Gene: ENSMUSG00000002319
AA Change: H343Q

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 benign
Transcript: ENSMUST00000125133
Predicted Effect probably damaging
Transcript: ENSMUST00000135221
AA Change: H343Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123692
Gene: ENSMUSG00000002319
AA Change: H343Q

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 probably benign
Transcript: ENSMUST00000141499
Predicted Effect probably benign
Transcript: ENSMUST00000148351
SMART Domains Protein: ENSMUSP00000117543
Gene: ENSMUSG00000002319

DomainStartEndE-ValueType
IBN_N 24 90 4.4e-7 SMART
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
Predicted Effect probably benign
Transcript: ENSMUST00000156420
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,167,278 (GRCm39) probably null Het
AU040320 T A 4: 126,708,166 (GRCm39) S261T probably benign Het
Banp T A 8: 122,705,326 (GRCm39) C65* probably null Het
Bloc1s5 T C 13: 38,787,850 (GRCm39) D178G probably benign Het
Cacna1c A G 6: 118,575,727 (GRCm39) F1941L Het
Ccdc121rt3 T C 5: 112,503,063 (GRCm39) K214E probably benign Het
Cd48 A G 1: 171,523,348 (GRCm39) I64V probably damaging Het
Cela3a A G 4: 137,135,501 (GRCm39) S21P probably benign Het
Cidec A G 6: 113,411,415 (GRCm39) Y12H possibly damaging Het
Col12a1 C G 9: 79,588,803 (GRCm39) R1104T probably damaging Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cux2 T C 5: 122,006,648 (GRCm39) D874G possibly damaging Het
Dbnl C T 11: 5,748,048 (GRCm39) L298F probably benign Het
Dnah1 C A 14: 31,032,866 (GRCm39) V390F probably benign Het
Dnah17 T C 11: 118,012,304 (GRCm39) D486G possibly damaging Het
Dnah17 T C 11: 117,916,466 (GRCm39) I4236V probably benign Het
Dpp6 T A 5: 27,857,274 (GRCm39) D406E probably benign Het
Dsp C T 13: 38,359,183 (GRCm39) A318V possibly damaging Het
Duox1 T C 2: 122,160,120 (GRCm39) L745P possibly damaging Het
Ell C A 8: 70,992,364 (GRCm39) A3E possibly damaging Het
Fer1l5 T A 1: 36,459,775 (GRCm39) L1832* probably null Het
Filip1 G T 9: 79,727,931 (GRCm39) N229K probably benign Het
Flg A T 3: 93,200,089 (GRCm39) H195L unknown Het
Fndc7 G T 3: 108,770,129 (GRCm39) P685H probably damaging Het
Ggt1 A G 10: 75,412,116 (GRCm39) N120S probably benign Het
Gm4952 A T 19: 12,604,428 (GRCm39) H280L probably benign Het
Golim4 A T 3: 75,794,091 (GRCm39) D551E probably damaging Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Hmbs A C 9: 44,248,147 (GRCm39) probably null Het
Ino80 T C 2: 119,273,054 (GRCm39) D474G probably benign Het
Jade2 C T 11: 51,707,744 (GRCm39) R823H probably damaging Het
Jakmip1 C T 5: 37,274,841 (GRCm39) T453I probably damaging Het
Klk6 T C 7: 43,478,689 (GRCm39) S199P probably damaging Het
Ltn1 A T 16: 87,223,166 (GRCm39) Y105N probably damaging Het
Map3k19 G T 1: 127,756,827 (GRCm39) T394N probably damaging Het
Megf6 G A 4: 154,354,927 (GRCm39) D1445N probably benign Het
Mmp21 A G 7: 133,280,791 (GRCm39) Y60H probably damaging Het
Mylk4 C T 13: 32,904,585 (GRCm39) probably null Het
Nckipsd A T 9: 108,691,216 (GRCm39) R38* probably null Het
Nob1 G A 8: 108,139,737 (GRCm39) R341* probably null Het
Or11g25 A G 14: 50,723,751 (GRCm39) T279A possibly damaging Het
Or1e19 T A 11: 73,324,175 (GRCm39) probably benign Het
Or5ac22 A G 16: 59,134,997 (GRCm39) Y258H probably damaging Het
Pcdh1 A G 18: 38,336,569 (GRCm39) L22P unknown Het
Pebp4 T A 14: 70,297,056 (GRCm39) N198K probably benign Het
Pkp4 T C 2: 59,138,757 (GRCm39) S336P probably damaging Het
Prr5l T A 2: 101,547,442 (GRCm39) D361V probably benign Het
Ralgapa1 C G 12: 55,756,340 (GRCm39) V1086L probably damaging Het
Ralgapa1 T A 12: 55,756,341 (GRCm39) Q1085H probably damaging Het
Ryr2 T C 13: 11,705,219 (GRCm39) N2849S probably damaging Het
Slc6a18 A T 13: 73,820,915 (GRCm39) L223H probably damaging Het
Sqstm1 T G 11: 50,096,932 (GRCm39) probably null Het
Syne1 T C 10: 5,195,835 (GRCm39) E3945G probably damaging Het
Syne2 A G 12: 76,037,161 (GRCm39) Y3780C probably benign Het
Tecpr1 A G 5: 144,140,236 (GRCm39) Y840H probably damaging Het
Tmem183a T C 1: 134,288,539 (GRCm39) Q108R probably benign Het
Tmtc1 A T 6: 148,345,415 (GRCm39) C95S probably benign Het
Trappc8 C T 18: 20,958,119 (GRCm39) V1250I probably damaging Het
Tshz1 A G 18: 84,032,461 (GRCm39) V649A probably damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vmn1r123 A C 7: 20,896,302 (GRCm39) T65P probably damaging Het
Vmn2r63 A T 7: 42,577,553 (GRCm39) H328Q possibly damaging Het
Zeb1 T C 18: 5,766,802 (GRCm39) S438P probably damaging 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
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
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 PCR Primer
(F):5'- AACATTCTTGAGAGCCCAGC -3'
(R):5'- TCCTCCTAGTGACTGGCATTAG -3'

Sequencing Primer
(F):5'- ATTCTTGAGAGCCCAGCACGAG -3'
(R):5'- AACTCATCTTGAGGTCAGAGCTC -3'
Posted On 2019-11-12