Incidental Mutation 'IGL01896:Eif4b'
ID179404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif4b
Ensembl Gene ENSMUSG00000058655
Gene Nameeukaryotic translation initiation factor 4B
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.958) question?
Stock #IGL01896
Quality Score
Status
Chromosome15
Chromosomal Location102073773-102097173 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102095286 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 597 (S597P)
Ref Sequence ENSEMBL: ENSMUSP00000127774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169681] [ENSMUST00000229400]
Predicted Effect probably benign
Transcript: ENSMUST00000169681
AA Change: S597P

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000127774
Gene: ENSMUSG00000058655
AA Change: S597P

DomainStartEndE-ValueType
low complexity region 6 13 N/A INTRINSIC
RRM 97 169 1.54e-15 SMART
low complexity region 221 273 N/A INTRINSIC
low complexity region 282 327 N/A INTRINSIC
low complexity region 347 359 N/A INTRINSIC
low complexity region 372 391 N/A INTRINSIC
low complexity region 408 428 N/A INTRINSIC
low complexity region 574 581 N/A INTRINSIC
low complexity region 584 597 N/A INTRINSIC
low complexity region 599 608 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229254
Predicted Effect probably benign
Transcript: ENSMUST00000229400
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,225,158 F509Y possibly damaging Het
Acot11 T A 4: 106,771,367 I75F probably damaging Het
Atp1a2 T A 1: 172,286,011 N427Y probably damaging Het
Cd19 T C 7: 126,414,350 D89G possibly damaging Het
Clca1 T A 3: 145,015,677 T378S possibly damaging Het
Cltc A T 11: 86,725,133 C436S probably damaging Het
Def8 G A 8: 123,459,895 V429M probably benign Het
Dnah9 A T 11: 66,130,666 D311E possibly damaging Het
Dpy19l4 T C 4: 11,267,752 K396R possibly damaging Het
Ezh1 A T 11: 101,213,755 N155K probably benign Het
Glud1 A G 14: 34,319,905 S157G probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm5600 T C 7: 113,707,984 noncoding transcript Het
Hnf4g T A 3: 3,651,410 V298E probably damaging Het
Hspd1 C T 1: 55,079,109 R446Q probably benign Het
Lyst A G 13: 13,635,577 I611V probably benign Het
Map4k3 T C 17: 80,613,931 E524G probably benign Het
Mepe A G 5: 104,338,269 D425G possibly damaging Het
Myo1a G T 10: 127,719,904 V921L probably benign Het
Plxdc1 A T 11: 97,924,582 M470K probably damaging Het
Prim1 A G 10: 128,022,889 Y222C probably damaging Het
Ptpn13 A G 5: 103,501,523 N264S possibly damaging Het
Qrsl1 T C 10: 43,876,504 D441G probably benign Het
Samd9l G T 6: 3,375,120 Q714K probably benign Het
Scrib T C 15: 76,066,118 E293G possibly damaging Het
Slc12a2 T A 18: 57,896,308 N255K probably benign Het
Slc6a6 T C 6: 91,726,069 I141T probably damaging Het
Slc9a1 T C 4: 133,418,059 L485P probably damaging Het
Slfn8 A T 11: 83,003,696 Y706N probably damaging Het
Tlr5 T C 1: 182,974,879 F583L possibly damaging Het
Tmprss15 A G 16: 79,090,790 V43A probably benign Het
Ttc24 T C 3: 88,070,413 probably null Het
Ttc7 A G 17: 87,359,124 T606A probably damaging Het
Ubap2 G T 4: 41,202,362 P689T possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wfdc8 A T 2: 164,605,780 M120K probably damaging Het
Other mutations in Eif4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Eif4b APN 15 102091423 missense probably benign 0.23
IGL03348:Eif4b APN 15 102093031 unclassified probably benign
R1577:Eif4b UTSW 15 102089901 nonsense probably null
R1727:Eif4b UTSW 15 102090062 missense possibly damaging 0.71
R1931:Eif4b UTSW 15 102088976 missense unknown
R3927:Eif4b UTSW 15 102084310 missense probably damaging 1.00
R4051:Eif4b UTSW 15 102086604 missense probably benign 0.31
R4392:Eif4b UTSW 15 102086641 critical splice donor site probably null
R5105:Eif4b UTSW 15 102084196 missense probably benign 0.42
R5716:Eif4b UTSW 15 102082059 missense probably benign 0.36
R6488:Eif4b UTSW 15 102092987 unclassified probably benign
R7048:Eif4b UTSW 15 102093136 unclassified probably benign
R7647:Eif4b UTSW 15 102088694 missense unknown
R7648:Eif4b UTSW 15 102089000 missense unknown
Posted On2014-05-07