Incidental Mutation 'R7077:Eif4a1'
ID 549287
Institutional Source Beutler Lab
Gene Symbol Eif4a1
Ensembl Gene ENSMUSG00000059796
Gene Name eukaryotic translation initiation factor 4A1
Synonyms initiation factor eIF-4A long form, Eif4
MMRRC Submission 045172-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R7077 (G1)
Quality Score 180.009
Status Validated
Chromosome 11
Chromosomal Location 69557762-69563249 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 69561490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 52 (F52L)
Ref Sequence ENSEMBL: ENSMUSP00000127034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005336] [ENSMUST00000018918] [ENSMUST00000066760] [ENSMUST00000102589] [ENSMUST00000108654] [ENSMUST00000163666]
AlphaFold P60843
Predicted Effect probably benign
Transcript: ENSMUST00000005336
SMART Domains Protein: ENSMUSP00000005336
Gene: ENSMUSG00000005204

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
low complexity region 42 53 N/A INTRINSIC
low complexity region 74 86 N/A INTRINSIC
low complexity region 118 131 N/A INTRINSIC
low complexity region 183 195 N/A INTRINSIC
Pfam:Peptidase_C48 394 566 4.9e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000018918
SMART Domains Protein: ENSMUSP00000018918
Gene: ENSMUSG00000018774

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Lamp 28 326 5.6e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066760
SMART Domains Protein: ENSMUSP00000066581
Gene: ENSMUSG00000005204

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
low complexity region 42 53 N/A INTRINSIC
low complexity region 74 86 N/A INTRINSIC
low complexity region 118 131 N/A INTRINSIC
low complexity region 183 195 N/A INTRINSIC
Pfam:Peptidase_C48 394 566 4.9e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102589
Predicted Effect probably benign
Transcript: ENSMUST00000108654
SMART Domains Protein: ENSMUSP00000104294
Gene: ENSMUSG00000018774

DomainStartEndE-ValueType
Pfam:Lamp 16 335 3.1e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134942
SMART Domains Protein: ENSMUSP00000114791
Gene: ENSMUSG00000005204

DomainStartEndE-ValueType
Pfam:Peptidase_C48 5 167 4.1e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163666
AA Change: F52L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127034
Gene: ENSMUSG00000059796
AA Change: F52L

DomainStartEndE-ValueType
DEXDc 51 249 3.61e-60 SMART
HELICc 286 367 1.04e-33 SMART
Meta Mutation Damage Score 0.9411 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 C T 12: 81,605,893 (GRCm39) C623Y probably damaging Het
Ago3 T C 4: 126,265,325 (GRCm39) K322R probably null Het
Ankrd17 T C 5: 90,433,723 (GRCm39) H682R possibly damaging Het
Aoah A G 13: 21,094,276 (GRCm39) D187G probably damaging Het
Arhgap17 T C 7: 122,879,231 (GRCm39) D840G unknown Het
AW551984 C T 9: 39,502,723 (GRCm39) V650I probably benign Het
Bok T A 1: 93,616,911 (GRCm39) Y86N probably damaging Het
Ccdc146 T A 5: 21,510,272 (GRCm39) N580I possibly damaging Het
Ccng2 T C 5: 93,417,199 (GRCm39) S72P possibly damaging Het
Cfap74 T G 4: 155,540,134 (GRCm39) I977S unknown Het
Cobl T C 11: 12,203,441 (GRCm39) N1087S probably benign Het
Cyp21a1 C A 17: 35,021,333 (GRCm39) R346L probably damaging Het
Eif4ebp2 A C 10: 61,269,580 (GRCm39) I120S probably damaging Het
Enpp2 A C 15: 54,764,787 (GRCm39) D146E probably benign Het
Exosc9 T C 3: 36,607,205 (GRCm39) Y30H probably damaging Het
Fam117a G A 11: 95,268,498 (GRCm39) G300S probably benign Het
Focad C A 4: 88,328,914 (GRCm39) A1709E unknown Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Fsip2 T C 2: 82,813,496 (GRCm39) F3272L probably benign Het
Gcnt2 G A 13: 41,013,896 (GRCm39) M22I probably benign Het
Gjd4 T C 18: 9,280,928 (GRCm39) E50G probably damaging Het
Gm10375 G T 14: 43,840,427 (GRCm39) T162K probably benign Het
Gm10837 C G 14: 122,728,142 (GRCm39) A6G unknown Het
Gm4924 T C 10: 82,215,057 (GRCm39) F952L unknown Het
Heatr1 T C 13: 12,433,045 (GRCm39) F1132L possibly damaging Het
Hnrnpu A G 1: 178,159,756 (GRCm39) Y442H unknown Het
Hp1bp3 C A 4: 137,966,929 (GRCm39) T408N probably damaging Het
Htra3 A G 5: 35,825,660 (GRCm39) V198A probably damaging Het
Katnal1 T C 5: 148,828,547 (GRCm39) T300A probably benign Het
Lipo5 G T 19: 33,445,170 (GRCm39) P133Q Het
Lrp1b A T 2: 41,660,858 (GRCm39) H197Q Het
Mdc1 C A 17: 36,156,839 (GRCm39) A82D probably damaging Het
Mstn A T 1: 53,103,408 (GRCm39) D248V probably benign Het
Myo1d C T 11: 80,565,460 (GRCm39) E426K probably damaging Het
Ola1 G A 2: 72,972,308 (GRCm39) T221I probably damaging Het
Or52z1 A G 7: 103,436,593 (GRCm39) I297T probably damaging Het
Or5t7 T C 2: 86,507,236 (GRCm39) Y147C possibly damaging Het
Or7e166 T A 9: 19,624,428 (GRCm39) S102T probably benign Het
Or8c20 T A 9: 38,261,266 (GRCm39) Y290N probably damaging Het
Phldb1 T C 9: 44,623,201 (GRCm39) T618A possibly damaging Het
Pkd1 T G 17: 24,810,093 (GRCm39) W3565G probably damaging Het
Prl3a1 A T 13: 27,460,086 (GRCm39) N190I probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Ptpn11 C T 5: 121,281,633 (GRCm39) R484Q probably benign Het
Rapgef4 T C 2: 72,071,820 (GRCm39) M900T probably damaging Het
Slc1a2 A T 2: 102,607,855 (GRCm39) D501V probably benign Het
Smarcd3 G T 5: 24,799,960 (GRCm39) A270D probably damaging Het
Srgap2 A G 1: 131,272,187 (GRCm39) M33T Het
Tle1 G C 4: 72,076,612 (GRCm39) P139A probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tsbp1 C A 17: 34,659,856 (GRCm39) T93N possibly damaging Het
Zfp658 T A 7: 43,223,413 (GRCm39) S563T probably benign Het
Zswim9 G A 7: 12,993,679 (GRCm39) R826C probably damaging Het
Other mutations in Eif4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:Eif4a1 APN 11 69,559,922 (GRCm39) missense probably damaging 0.99
IGL01923:Eif4a1 APN 11 69,563,129 (GRCm39) missense possibly damaging 0.81
Tour UTSW 11 69,561,490 (GRCm39) missense probably damaging 0.99
R0709:Eif4a1 UTSW 11 69,561,078 (GRCm39) missense probably damaging 1.00
R3407:Eif4a1 UTSW 11 69,561,089 (GRCm39) missense probably damaging 1.00
R4361:Eif4a1 UTSW 11 69,558,290 (GRCm39) utr 3 prime probably benign
R4398:Eif4a1 UTSW 11 69,560,070 (GRCm39) missense possibly damaging 0.62
R4896:Eif4a1 UTSW 11 69,559,423 (GRCm39) intron probably benign
R4936:Eif4a1 UTSW 11 69,563,251 (GRCm39) unclassified probably benign
R4941:Eif4a1 UTSW 11 69,558,640 (GRCm39) intron probably benign
R6366:Eif4a1 UTSW 11 69,561,781 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCTTGTTAGACTAGATGTAGAGC -3'
(R):5'- GCAACCTGTAGGATGAGGTG -3'

Sequencing Primer
(F):5'- TGCATCCAAGGCATGACC -3'
(R):5'- ACTGGAACGAGATTGTGG -3'
Posted On 2019-05-15