Incidental Mutation 'IGL01923:Eif4a1'
ID180180
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif4a1
Ensembl Gene ENSMUSG00000059796
Gene Nameeukaryotic translation initiation factor 4A1
Synonymsinitiation factor eIF-4A long form, Eif4
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.962) question?
Stock #IGL01923
Quality Score
Status
Chromosome11
Chromosomal Location69666936-69672423 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 69672303 bp
ZygosityHeterozygous
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]
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: ENSMUST00000127677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133067
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 noncoding transcript
Transcript: ENSMUST00000135372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140186
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142348
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158917
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T A 5: 129,178,079 S597T possibly damaging Het
Btnl9 T C 11: 49,180,582 D138G probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cep135 T A 5: 76,640,982 *1141K probably null Het
Ctnnd2 A T 15: 30,480,828 Q74L probably damaging Het
Cyp2j13 A T 4: 96,062,057 W236R probably benign Het
Dixdc1 A T 9: 50,695,503 I271N possibly damaging Het
Dlec1 A G 9: 119,128,114 probably null Het
Dnah9 C A 11: 66,125,235 probably benign Het
Dopey1 A T 9: 86,522,867 Y275F probably damaging Het
Dysf T A 6: 84,210,829 *2105R probably null Het
Fras1 T A 5: 96,735,280 I2557N probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm12253 G T 11: 58,434,901 probably null Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hsd17b7 A G 1: 169,959,466 V254A probably benign Het
Kif21a T A 15: 90,956,430 D143V probably damaging Het
Lrrc9 T C 12: 72,510,412 V1417A possibly damaging Het
Macf1 C T 4: 123,380,444 A4926T possibly damaging Het
Mef2a A C 7: 67,264,872 S91R probably damaging Het
Myh7 A G 14: 54,985,459 probably null Het
Olfr808 T A 10: 129,768,104 F203I probably benign Het
Pbx2 A G 17: 34,594,050 D160G probably damaging Het
Pcdhb17 T C 18: 37,486,737 F527L probably benign Het
Ppm1b T C 17: 84,994,061 L123P probably damaging Het
Ppm1k T A 6: 57,522,828 K154N probably benign Het
Ppp2r1a T G 17: 20,965,469 *590G probably null Het
Raver1 A T 9: 21,079,240 L589Q probably damaging Het
Rrbp1 A G 2: 143,990,161 S29P probably damaging Het
Senp5 A G 16: 31,965,816 Y673H probably damaging Het
Serpina3j T A 12: 104,315,214 probably benign Het
Serpinc1 A G 1: 160,989,546 E70G probably damaging Het
Stag3 A G 5: 138,289,230 Q139R probably damaging Het
Sva T A 6: 42,042,170 H91Q probably benign Het
Tmem263 C T 10: 85,114,431 Q29* probably null Het
Tpp1 T C 7: 105,751,650 N57D probably benign Het
Vmn2r27 T A 6: 124,200,525 I507L probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr11 A T 7: 129,632,322 probably null Het
Zfp236 C T 18: 82,682,219 E42K probably damaging Het
Other mutations in Eif4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:Eif4a1 APN 11 69669096 missense probably damaging 0.99
Tour UTSW 11 69670664 missense probably damaging 0.99
R0709:Eif4a1 UTSW 11 69670252 missense probably damaging 1.00
R3407:Eif4a1 UTSW 11 69670263 missense probably damaging 1.00
R4361:Eif4a1 UTSW 11 69667464 utr 3 prime probably benign
R4398:Eif4a1 UTSW 11 69669244 missense possibly damaging 0.62
R4896:Eif4a1 UTSW 11 69668597 intron probably benign
R4936:Eif4a1 UTSW 11 69672425 unclassified probably benign
R4941:Eif4a1 UTSW 11 69667814 intron probably benign
R6366:Eif4a1 UTSW 11 69670955 missense probably benign
R7077:Eif4a1 UTSW 11 69670664 missense probably damaging 0.99
Posted On2014-05-07