Incidental Mutation 'R4426:Eif4e1b'
ID 328196
Institutional Source Beutler Lab
Gene Symbol Eif4e1b
Ensembl Gene ENSMUSG00000074895
Gene Name eukaryotic translation initiation factor 4E family member 1B
Synonyms Eif4eloo
MMRRC Submission 041697-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4426 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 54931811-54936272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54932296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 49 (S49P)
Ref Sequence ENSEMBL: ENSMUSP00000116681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026993] [ENSMUST00000110003] [ENSMUST00000126525] [ENSMUST00000126785] [ENSMUST00000131692] [ENSMUST00000152204] [ENSMUST00000132005] [ENSMUST00000132728] [ENSMUST00000139184] [ENSMUST00000142158] [ENSMUST00000163796] [ENSMUST00000141398] [ENSMUST00000132415]
AlphaFold Q3UTA9
Predicted Effect probably benign
Transcript: ENSMUST00000026993
SMART Domains Protein: ENSMUSP00000026993
Gene: ENSMUSG00000025875

DomainStartEndE-ValueType
Pfam:Tetraspannin 16 263 6.9e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110003
AA Change: S44P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105630
Gene: ENSMUSG00000074895
AA Change: S44P

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Pfam:IF4E 66 227 2e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124055
Predicted Effect probably benign
Transcript: ENSMUST00000126525
SMART Domains Protein: ENSMUSP00000121625
Gene: ENSMUSG00000074895

DomainStartEndE-ValueType
Pfam:IF4E 63 111 3.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126785
AA Change: S50P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118697
Gene: ENSMUSG00000074895
AA Change: S50P

DomainStartEndE-ValueType
low complexity region 9 30 N/A INTRINSIC
Pfam:IF4E 72 234 1.7e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131692
SMART Domains Protein: ENSMUSP00000115287
Gene: ENSMUSG00000025875

DomainStartEndE-ValueType
Pfam:Tetraspannin 15 263 8.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152204
AA Change: S44P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120619
Gene: ENSMUSG00000074895
AA Change: S44P

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Pfam:IF4E 66 170 9.1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132005
AA Change: S49P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000116681
Gene: ENSMUSG00000074895
AA Change: S49P

DomainStartEndE-ValueType
low complexity region 8 29 N/A INTRINSIC
Pfam:IF4E 71 175 3e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132728
AA Change: S44P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123294
Gene: ENSMUSG00000074895
AA Change: S44P

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Pfam:IF4E 66 228 4.9e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139184
AA Change: S44P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119305
Gene: ENSMUSG00000074895
AA Change: S44P

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Pfam:IF4E 66 134 4.4e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142158
AA Change: S49P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117092
Gene: ENSMUSG00000074895
AA Change: S49P

DomainStartEndE-ValueType
low complexity region 8 29 N/A INTRINSIC
Pfam:IF4E 71 233 4.8e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163796
SMART Domains Protein: ENSMUSP00000131671
Gene: ENSMUSG00000025875

DomainStartEndE-ValueType
Pfam:Tetraspannin 13 193 4.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141398
SMART Domains Protein: ENSMUSP00000114217
Gene: ENSMUSG00000074895

DomainStartEndE-ValueType
Pfam:IF4E 1 90 6.6e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132415
SMART Domains Protein: ENSMUSP00000120733
Gene: ENSMUSG00000074895

DomainStartEndE-ValueType
Pfam:IF4E 63 162 1.3e-35 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Albfm1 G T 5: 90,720,642 (GRCm39) C271F probably damaging Het
Arhgef39 C T 4: 43,497,112 (GRCm39) G293E possibly damaging Het
Atp8a1 A C 5: 67,932,171 (GRCm39) I206S probably benign Het
Cacnb2 A T 2: 14,980,026 (GRCm39) R290* probably null Het
Ccdc137 T C 11: 120,351,074 (GRCm39) S159P probably damaging Het
Chil5 A G 3: 105,926,943 (GRCm39) S231P probably damaging Het
Cic C T 7: 24,993,433 (GRCm39) probably benign Het
Csmd3 A G 15: 47,532,581 (GRCm39) V2434A possibly damaging Het
Csnk1a1 A G 18: 61,718,381 (GRCm39) probably benign Het
Far1 C A 7: 113,149,208 (GRCm39) P194Q probably benign Het
Fut4 T C 9: 14,662,677 (GRCm39) T206A possibly damaging Het
Galnt7 G T 8: 58,005,606 (GRCm39) S209* probably null Het
Gas2l1 A G 11: 5,013,908 (GRCm39) V184A probably benign Het
Herc1 T C 9: 66,403,287 (GRCm39) L4402P probably damaging Het
Hoxa13 C A 6: 52,237,714 (GRCm39) probably benign Het
Ighv1-9 T A 12: 114,547,416 (GRCm39) K42* probably null Het
Kif20a C T 18: 34,764,994 (GRCm39) R743W probably damaging Het
Lama2 G A 10: 27,298,554 (GRCm39) R181C probably damaging Het
Lrp2 G T 2: 69,336,692 (GRCm39) T1360K probably benign Het
Map4k1 G A 7: 28,688,020 (GRCm39) V177I probably damaging Het
Nbea G A 3: 55,989,800 (GRCm39) T352I probably damaging Het
Nde1 A G 16: 14,006,200 (GRCm39) T82A possibly damaging Het
Nes A G 3: 87,883,349 (GRCm39) E536G probably damaging Het
Nms C T 1: 38,978,377 (GRCm39) P4L probably benign Het
Nrip1 T C 16: 76,088,293 (GRCm39) Q1088R possibly damaging Het
Nwd1 A G 8: 73,393,423 (GRCm39) K229E probably damaging Het
Or51f1d T C 7: 102,701,018 (GRCm39) L171P probably damaging Het
Or52ad1 A G 7: 102,995,290 (GRCm39) Y282H probably damaging Het
Pcdhac2 T A 18: 37,277,796 (GRCm39) S259T probably benign Het
Pdcd5 T C 7: 35,345,605 (GRCm39) D102G possibly damaging Het
Pgm1 T C 4: 99,819,337 (GRCm39) V169A probably benign Het
Pitpnm2 C T 5: 124,280,186 (GRCm39) E121K probably benign Het
Plin3 T C 17: 56,593,555 (GRCm39) Y53C probably damaging Het
Poc1b T C 10: 98,991,001 (GRCm39) probably null Het
Polr2c A T 8: 95,590,090 (GRCm39) N232Y probably damaging Het
Ppp1r9b A T 11: 94,892,150 (GRCm39) R188S possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rab3gap2 G A 1: 184,967,539 (GRCm39) S141N probably damaging Het
Radx T C X: 138,381,645 (GRCm39) V134A possibly damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rnf166 A G 8: 123,196,979 (GRCm39) L91P probably damaging Het
Robo2 T A 16: 73,745,154 (GRCm39) M200L probably damaging Het
Rp1 A T 1: 4,418,147 (GRCm39) H988Q probably benign Het
Sbno2 T C 10: 79,908,192 (GRCm39) K69R probably null Het
Sgce G A 6: 4,691,459 (GRCm39) A295V probably damaging Het
Shc3 C G 13: 51,634,130 (GRCm39) probably null Het
Slc44a1 T C 4: 53,563,286 (GRCm39) V671A probably benign Het
Sptbn4 A C 7: 27,123,223 (GRCm39) L233R probably damaging Het
Stx5a A G 19: 8,727,104 (GRCm39) T252A probably benign Het
Timd6 T A 11: 46,475,247 (GRCm39) F147L probably benign Het
Tmem87b C T 2: 128,688,670 (GRCm39) A485V probably benign Het
Tns1 A G 1: 74,024,908 (GRCm39) I403T probably damaging Het
Ttll10 G C 4: 156,133,018 (GRCm39) T22R possibly damaging Het
Uevld A T 7: 46,589,890 (GRCm39) S293T probably benign Het
Utp18 T C 11: 93,757,264 (GRCm39) N467D probably damaging Het
Vmn1r39 A T 6: 66,782,345 (GRCm39) probably null Het
Vmn2r106 A G 17: 20,505,641 (GRCm39) S18P probably benign Het
Vmn2r61 A T 7: 41,950,157 (GRCm39) H859L probably benign Het
Vmn2r61 T C 7: 41,950,159 (GRCm39) S860P probably benign Het
Vmn2r72 G A 7: 85,387,036 (GRCm39) R843* probably null Het
Vwc2 A G 11: 11,104,235 (GRCm39) T256A probably damaging Het
Zfp715 T C 7: 42,960,516 (GRCm39) D25G probably damaging Het
Other mutations in Eif4e1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01614:Eif4e1b APN 13 54,934,729 (GRCm39) missense probably damaging 1.00
R1766:Eif4e1b UTSW 13 54,934,704 (GRCm39) missense probably damaging 0.98
R1858:Eif4e1b UTSW 13 54,935,091 (GRCm39) splice site probably null
R4130:Eif4e1b UTSW 13 54,935,130 (GRCm39) missense probably benign 0.25
R4702:Eif4e1b UTSW 13 54,935,138 (GRCm39) missense probably damaging 0.99
R5367:Eif4e1b UTSW 13 54,934,757 (GRCm39) missense probably damaging 0.99
R5595:Eif4e1b UTSW 13 54,934,529 (GRCm39) missense possibly damaging 0.49
R5976:Eif4e1b UTSW 13 54,932,635 (GRCm39) missense probably damaging 1.00
R6195:Eif4e1b UTSW 13 54,932,018 (GRCm39) missense probably null 0.13
R6574:Eif4e1b UTSW 13 54,932,711 (GRCm39) missense probably damaging 1.00
R6610:Eif4e1b UTSW 13 54,932,128 (GRCm39) intron probably benign
R6980:Eif4e1b UTSW 13 54,931,916 (GRCm39) critical splice donor site probably null
R7131:Eif4e1b UTSW 13 54,931,913 (GRCm39) missense probably null 0.97
R7349:Eif4e1b UTSW 13 54,932,006 (GRCm39) missense probably benign 0.33
R9311:Eif4e1b UTSW 13 54,932,332 (GRCm39) missense probably benign 0.06
R9540:Eif4e1b UTSW 13 54,933,338 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGTCAGCTAGAATCAGAGC -3'
(R):5'- TCCAGTCTCCACATGGATAAGTC -3'

Sequencing Primer
(F):5'- TGAACTCAAGAGATCTGCCTGTC -3'
(R):5'- TCCTCACCTGTACTGCAA -3'
Posted On 2015-07-07