Incidental Mutation 'IGL01923:Eif4a1'
ID 180180
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif4a1
Ensembl Gene ENSMUSG00000059796
Gene Name eukaryotic translation initiation factor 4A1
Synonyms initiation factor eIF-4A long form, Eif4
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # IGL01923
Quality Score
Status
Chromosome 11
Chromosomal Location 69557762-69563249 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69563129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 25 (D25E)
Ref Sequence ENSEMBL: ENSMUSP00000099649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005336] [ENSMUST00000066760] [ENSMUST00000102589] [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: 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 noncoding transcript
Transcript: ENSMUST00000083928
Predicted Effect possibly damaging
Transcript: ENSMUST00000102589
AA Change: D25E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140186
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135372
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 benign
Transcript: ENSMUST00000163666
SMART Domains Protein: ENSMUSP00000127034
Gene: ENSMUSG00000059796

DomainStartEndE-ValueType
DEXDc 51 249 3.61e-60 SMART
HELICc 286 367 1.04e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142348
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T A 5: 129,255,143 (GRCm39) S597T possibly damaging Het
Btnl9 T C 11: 49,071,409 (GRCm39) D138G probably benign Het
Cep135 T A 5: 76,788,829 (GRCm39) *1141K probably null Het
Ctnnd2 A T 15: 30,480,974 (GRCm39) Q74L probably damaging Het
Cyp2j13 A T 4: 95,950,294 (GRCm39) W236R probably benign Het
Dixdc1 A T 9: 50,606,803 (GRCm39) I271N possibly damaging Het
Dlec1 A G 9: 118,957,182 (GRCm39) probably null Het
Dnah9 C A 11: 66,016,061 (GRCm39) probably benign Het
Dop1a A T 9: 86,404,920 (GRCm39) Y275F probably damaging Het
Dysf T A 6: 84,187,811 (GRCm39) *2105R probably null Het
Fras1 T A 5: 96,883,139 (GRCm39) I2557N probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm12253 G T 11: 58,325,727 (GRCm39) probably null Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hsd17b7 A G 1: 169,787,035 (GRCm39) V254A probably benign Het
Kif21a T A 15: 90,840,633 (GRCm39) D143V probably damaging Het
Lrrc9 T C 12: 72,557,186 (GRCm39) V1417A possibly damaging Het
Macf1 C T 4: 123,274,237 (GRCm39) A4926T possibly damaging Het
Mef2a A C 7: 66,914,620 (GRCm39) S91R probably damaging Het
Myh7 A G 14: 55,222,916 (GRCm39) probably null Het
Or6c65 T A 10: 129,603,973 (GRCm39) F203I probably benign Het
Pbx2 A G 17: 34,813,024 (GRCm39) D160G probably damaging Het
Pcdhb17 T C 18: 37,619,790 (GRCm39) F527L probably benign Het
Ppm1b T C 17: 85,301,489 (GRCm39) L123P probably damaging Het
Ppm1k T A 6: 57,499,813 (GRCm39) K154N probably benign Het
Ppp2r1a T G 17: 21,185,731 (GRCm39) *590G probably null Het
Raver1 A T 9: 20,990,536 (GRCm39) L589Q probably damaging Het
Rrbp1 A G 2: 143,832,081 (GRCm39) S29P probably damaging Het
Senp5 A G 16: 31,784,634 (GRCm39) Y673H probably damaging Het
Serpina3j T A 12: 104,281,473 (GRCm39) probably benign Het
Serpinc1 A G 1: 160,817,116 (GRCm39) E70G probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stag3 A G 5: 138,287,492 (GRCm39) Q139R probably damaging Het
Sva T A 6: 42,019,104 (GRCm39) H91Q probably benign Het
Tmem263 C T 10: 84,950,295 (GRCm39) Q29* probably null Het
Tpp1 T C 7: 105,400,857 (GRCm39) N57D probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r27 T A 6: 124,177,484 (GRCm39) I507L probably benign Het
Wdr11 A T 7: 129,234,046 (GRCm39) probably null Het
Zfp236 C T 18: 82,700,344 (GRCm39) E42K probably damaging Het
Other mutations in Eif4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:Eif4a1 APN 11 69,559,922 (GRCm39) missense probably damaging 0.99
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
R7077:Eif4a1 UTSW 11 69,561,490 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07