Incidental Mutation 'IGL02426:Eif4a2'
ID 292904
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif4a2
Ensembl Gene ENSMUSG00000022884
Gene Name eukaryotic translation initiation factor 4A2
Synonyms 4833432N07Rik, Ddx2b, Eif4, BM-010
Accession Numbers
Essential gene? Possibly essential (E-score: 0.580) question?
Stock # IGL02426
Quality Score
Status
Chromosome 16
Chromosomal Location 22926194-22932886 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22929399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 234 (I234V)
Ref Sequence ENSEMBL: ENSMUSP00000156170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023598] [ENSMUST00000023599] [ENSMUST00000077605] [ENSMUST00000115341] [ENSMUST00000123413] [ENSMUST00000131871] [ENSMUST00000133847] [ENSMUST00000115338] [ENSMUST00000168891] [ENSMUST00000187168] [ENSMUST00000147117] [ENSMUST00000232287]
AlphaFold P10630
Predicted Effect probably benign
Transcript: ENSMUST00000023598
SMART Domains Protein: ENSMUSP00000023598
Gene: ENSMUSG00000022881

DomainStartEndE-ValueType
AAA 70 202 5.8e-13 SMART
Pfam:Rep_fac_C 267 356 2.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000023599
AA Change: I233V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023599
Gene: ENSMUSG00000022884
AA Change: I233V

DomainStartEndE-ValueType
DEXDc 52 250 4.62e-58 SMART
HELICc 287 368 5.21e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077605
AA Change: I233V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000090876
Gene: ENSMUSG00000022884
AA Change: I233V

DomainStartEndE-ValueType
DEXDc 52 250 4.62e-58 SMART
HELICc 287 362 1.86e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083274
Predicted Effect probably benign
Transcript: ENSMUST00000115341
AA Change: I234V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110998
Gene: ENSMUSG00000022884
AA Change: I234V

DomainStartEndE-ValueType
DEXDc 53 251 4.62e-58 SMART
HELICc 288 369 5.21e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123413
AA Change: I233V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115649
Gene: ENSMUSG00000022884
AA Change: I233V

DomainStartEndE-ValueType
DEXDc 52 250 4.62e-58 SMART
HELICc 287 362 1.86e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125553
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130483
Predicted Effect probably benign
Transcript: ENSMUST00000131871
SMART Domains Protein: ENSMUSP00000118141
Gene: ENSMUSG00000022884

DomainStartEndE-ValueType
PDB:3EIQ|D 4 70 2e-33 PDB
Blast:DEXDc 17 73 3e-25 BLAST
SCOP:d1qdea_ 25 71 2e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133847
SMART Domains Protein: ENSMUSP00000115479
Gene: ENSMUSG00000022881

DomainStartEndE-ValueType
Pfam:Rad17 32 97 3.7e-9 PFAM
Pfam:AAA 74 98 2.4e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115338
SMART Domains Protein: ENSMUSP00000110995
Gene: ENSMUSG00000022881

DomainStartEndE-ValueType
AAA 70 202 5.8e-13 SMART
Pfam:Rep_fac_C 269 344 3.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168891
AA Change: I138V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127030
Gene: ENSMUSG00000022884
AA Change: I138V

DomainStartEndE-ValueType
DEXDc 1 155 1.92e-14 SMART
HELICc 192 273 5.21e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187168
AA Change: I233V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140809
Gene: ENSMUSG00000022884
AA Change: I233V

DomainStartEndE-ValueType
DEXDc 52 250 4.62e-58 SMART
HELICc 287 362 1.86e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147321
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149328
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157310
Predicted Effect probably benign
Transcript: ENSMUST00000147117
SMART Domains Protein: ENSMUSP00000121745
Gene: ENSMUSG00000022884

DomainStartEndE-ValueType
PDB:3EIQ|D 4 69 4e-33 PDB
Blast:DEXDc 16 72 3e-25 BLAST
SCOP:d1qdea_ 24 70 2e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000232287
AA Change: I234V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,157,675 (GRCm39) T1294M probably damaging Het
Bad A G 19: 6,928,785 (GRCm39) S128G probably damaging Het
Casp9 T G 4: 141,539,515 (GRCm39) probably null Het
Ccdc39 T C 3: 33,879,547 (GRCm39) K507R possibly damaging Het
Cep76 A G 18: 67,767,987 (GRCm39) S182P probably benign Het
Cmklr2 T C 1: 63,222,827 (GRCm39) Y136C probably damaging Het
Cmtr2 A G 8: 110,948,322 (GRCm39) M211V possibly damaging Het
Cobl T A 11: 12,204,351 (GRCm39) K777* probably null Het
Cul9 T G 17: 46,834,184 (GRCm39) T1253P possibly damaging Het
Dmd T A X: 83,892,342 (GRCm39) L3002H probably damaging Het
Dnah9 C T 11: 66,015,979 (GRCm39) V421I probably benign Het
Epha4 T C 1: 77,421,514 (GRCm39) M323V probably benign Het
Fam47c A G X: 77,781,943 (GRCm39) D175G probably benign Het
Gm14178 T C 11: 99,638,341 (GRCm39) Het
Hes3 T C 4: 152,371,397 (GRCm39) N184S probably benign Het
Kdm6a A G X: 18,112,549 (GRCm39) E45G probably damaging Het
Kdr T C 5: 76,135,126 (GRCm39) K33E probably benign Het
Or2a52 A C 6: 43,144,022 (GRCm39) D10A probably benign Het
Or4k37 A T 2: 111,158,920 (GRCm39) D52V probably damaging Het
Or4k45 A T 2: 111,394,883 (GRCm39) I302K probably benign Het
Or52n4b A G 7: 108,144,187 (GRCm39) T150A probably benign Het
Or8h7 A G 2: 86,720,964 (GRCm39) L185S probably damaging Het
Pi4ka A T 16: 17,196,296 (GRCm39) probably benign Het
Pigk T A 3: 152,448,120 (GRCm39) probably null Het
Pikfyve A G 1: 65,290,771 (GRCm39) T1197A possibly damaging Het
Plppr4 T C 3: 117,115,944 (GRCm39) I638V probably benign Het
Pramel28 T C 4: 143,693,229 (GRCm39) D83G possibly damaging Het
Rtl9 T C X: 141,886,098 (GRCm39) V1170A probably damaging Het
Ryr3 A G 2: 112,731,250 (GRCm39) S687P possibly damaging Het
Skint5 T C 4: 113,797,981 (GRCm39) T201A probably benign Het
Socs5 G T 17: 87,442,320 (GRCm39) R420L probably damaging Het
Sos1 C T 17: 80,742,372 (GRCm39) S385N possibly damaging Het
Tomm34 A T 2: 163,906,875 (GRCm39) V106D probably damaging Het
Tubal3 T C 13: 3,982,750 (GRCm39) S177P probably damaging Het
Wbp2nl G A 15: 82,190,374 (GRCm39) A101T probably damaging Het
Other mutations in Eif4a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Eif4a2 APN 16 22,927,941 (GRCm39) missense probably benign 0.05
unflappable UTSW 16 22,929,390 (GRCm39) frame shift probably null
R3903:Eif4a2 UTSW 16 22,929,390 (GRCm39) frame shift probably null
R4880:Eif4a2 UTSW 16 22,927,650 (GRCm39) intron probably benign
R5623:Eif4a2 UTSW 16 22,928,969 (GRCm39) splice site probably benign
R7350:Eif4a2 UTSW 16 22,932,012 (GRCm39) missense possibly damaging 0.95
R7574:Eif4a2 UTSW 16 22,928,877 (GRCm39) missense probably benign 0.45
R8290:Eif4a2 UTSW 16 22,927,372 (GRCm39) missense probably damaging 1.00
R9072:Eif4a2 UTSW 16 22,929,403 (GRCm39) missense probably benign 0.00
R9073:Eif4a2 UTSW 16 22,929,403 (GRCm39) missense probably benign 0.00
RF006:Eif4a2 UTSW 16 22,929,028 (GRCm39) missense possibly damaging 0.93
Posted On 2015-04-16