Incidental Mutation 'IGL01614:Eif4e1b'
ID92329
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif4e1b
Ensembl Gene ENSMUSG00000074895
Gene Nameeukaryotic translation initiation factor 4E family member 1B
SynonymsEif4eloo
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01614
Quality Score
Status
Chromosome13
Chromosomal Location54783998-54788459 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 54786916 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 184 (I184N)
Ref Sequence ENSEMBL: ENSMUSP00000123294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026993] [ENSMUST00000099503] [ENSMUST00000110003] [ENSMUST00000126525] [ENSMUST00000126785] [ENSMUST00000131692] [ENSMUST00000132005] [ENSMUST00000132415] [ENSMUST00000132728] [ENSMUST00000139184] [ENSMUST00000141398] [ENSMUST00000142158] [ENSMUST00000152204] [ENSMUST00000163915] [ENSMUST00000163796]
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: ENSMUST00000099503
SMART Domains Protein: ENSMUSP00000097102
Gene: ENSMUSG00000025875

DomainStartEndE-ValueType
Pfam:Tetraspannin 16 266 1.3e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110003
AA Change: I184N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105630
Gene: ENSMUSG00000074895
AA Change: I184N

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 possibly damaging
Transcript: ENSMUST00000126785
AA Change: I190N

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118697
Gene: ENSMUSG00000074895
AA Change: I190N

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: ENSMUST00000132005
AA Change: H176Q

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000116681
Gene: ENSMUSG00000074895
AA Change: H176Q

DomainStartEndE-ValueType
low complexity region 8 29 N/A INTRINSIC
Pfam:IF4E 71 175 3e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132415
SMART Domains Protein: ENSMUSP00000120733
Gene: ENSMUSG00000074895

DomainStartEndE-ValueType
Pfam:IF4E 63 162 1.3e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132728
AA Change: I184N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123294
Gene: ENSMUSG00000074895
AA Change: I184N

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Pfam:IF4E 66 228 4.9e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139184
SMART Domains Protein: ENSMUSP00000119305
Gene: ENSMUSG00000074895

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Pfam:IF4E 66 134 4.4e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141398
AA Change: I46N

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114217
Gene: ENSMUSG00000074895
AA Change: I46N

DomainStartEndE-ValueType
Pfam:IF4E 1 90 6.6e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000142158
AA Change: I189N

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117092
Gene: ENSMUSG00000074895
AA Change: I189N

DomainStartEndE-ValueType
low complexity region 8 29 N/A INTRINSIC
Pfam:IF4E 71 233 4.8e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152204
AA Change: H171Q

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120619
Gene: ENSMUSG00000074895
AA Change: H171Q

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Pfam:IF4E 66 170 9.1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171859
SMART Domains Protein: ENSMUSP00000128568
Gene: ENSMUSG00000025875

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 79 3.6e-17 PFAM
Pfam:Tetraspannin 78 144 1.5e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163915
SMART Domains Protein: ENSMUSP00000130765
Gene: ENSMUSG00000025875

DomainStartEndE-ValueType
Pfam:Tetraspannin 13 143 5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163796
SMART Domains Protein: ENSMUSP00000131671
Gene: ENSMUSG00000025875

DomainStartEndE-ValueType
Pfam:Tetraspannin 13 193 4.3e-28 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 T A 17: 43,424,471 S143T possibly damaging Het
Arhgap32 G T 9: 32,260,505 S1527I probably damaging Het
Atp8a2 A G 14: 60,044,988 V128A probably damaging Het
Bpi T C 2: 158,271,946 F255L probably damaging Het
Clptm1 A T 7: 19,637,700 D269E probably benign Het
E2f7 T C 10: 110,759,978 V63A probably damaging Het
Fam49a T C 12: 12,361,573 probably null Het
Gal3st1 T A 11: 3,998,996 L401Q probably damaging Het
Gm7808 G A 9: 19,928,146 probably benign Het
Hdac5 G A 11: 102,200,028 T741I probably benign Het
Ipo5 A G 14: 120,935,095 T522A probably benign Het
Lama5 A C 2: 180,180,864 F2832V probably damaging Het
Ltk A C 2: 119,753,487 L230R probably damaging Het
Mettl14 A T 3: 123,373,960 probably benign Het
Myom1 T C 17: 71,126,178 F1507L possibly damaging Het
Nsd3 T A 8: 25,666,079 I554K possibly damaging Het
Olfr1044 A T 2: 86,171,397 I140N possibly damaging Het
Olfr107 G A 17: 37,405,638 C30Y probably benign Het
Olfr340 T G 2: 36,452,624 I13S probably benign Het
Olfr644 C T 7: 104,068,369 V221I probably benign Het
Prr14 T A 7: 127,475,133 L279H probably damaging Het
Rbm25 G T 12: 83,659,567 D229Y probably damaging Het
Sdk2 T C 11: 113,793,858 K1926E probably damaging Het
Slc25a23 C T 17: 57,045,579 R435Q probably null Het
Srebf2 A G 15: 82,178,853 N457S probably benign Het
Stac2 T C 11: 98,052,948 D12G probably benign Het
Tal1 A C 4: 115,063,128 probably null Het
Usp25 G A 16: 77,077,117 R527Q probably damaging Het
Other mutations in Eif4e1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1766:Eif4e1b UTSW 13 54786891 missense probably damaging 0.98
R1858:Eif4e1b UTSW 13 54787278 splice site probably null
R4130:Eif4e1b UTSW 13 54787317 missense probably benign 0.25
R4426:Eif4e1b UTSW 13 54784483 missense probably benign 0.01
R4702:Eif4e1b UTSW 13 54787325 missense probably damaging 0.99
R5367:Eif4e1b UTSW 13 54786944 missense probably damaging 0.99
R5595:Eif4e1b UTSW 13 54786716 missense possibly damaging 0.49
R5976:Eif4e1b UTSW 13 54784822 missense probably damaging 1.00
R6195:Eif4e1b UTSW 13 54784205 missense probably null 0.13
R6574:Eif4e1b UTSW 13 54784898 missense probably damaging 1.00
R6610:Eif4e1b UTSW 13 54784315 intron probably benign
R6980:Eif4e1b UTSW 13 54784103 critical splice donor site probably null
R7131:Eif4e1b UTSW 13 54784100 missense probably null 0.97
R7349:Eif4e1b UTSW 13 54784193 missense probably benign 0.33
Posted On2013-12-09