Incidental Mutation 'IGL03235:Eefsec'
ID414030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eefsec
Ensembl Gene ENSMUSG00000033216
Gene Nameeukaryotic elongation factor, selenocysteine-tRNA-specific
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.887) question?
Stock #IGL03235
Quality Score
Status
Chromosome6
Chromosomal Location88257334-88446539 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88376375 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 104 (D104G)
Ref Sequence ENSEMBL: ENSMUSP00000144839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165242] [ENSMUST00000203213] [ENSMUST00000203886] [ENSMUST00000204459] [ENSMUST00000205014] [ENSMUST00000205179]
Predicted Effect probably damaging
Transcript: ENSMUST00000165242
AA Change: D104G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131207
Gene: ENSMUSG00000033216
AA Change: D104G

DomainStartEndE-ValueType
Pfam:GTP_EFTU 5 284 1.7e-27 PFAM
Pfam:SRPRB 6 161 9e-7 PFAM
Pfam:MMR_HSR1 9 133 6.2e-6 PFAM
Pfam:GTP_EFTU_D2 224 290 4.7e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203213
AA Change: D6G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145480
Gene: ENSMUSG00000033216
AA Change: D6G

DomainStartEndE-ValueType
Pfam:GTP_EFTU 1 157 1.4e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203886
AA Change: D6G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145017
Gene: ENSMUSG00000033216
AA Change: D6G

DomainStartEndE-ValueType
Pfam:GTP_EFTU 1 205 1e-6 PFAM
Pfam:GTP_EFTU_D2 126 192 1e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204459
AA Change: D104G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144824
Gene: ENSMUSG00000033216
AA Change: D104G

DomainStartEndE-ValueType
Pfam:GTP_EFTU 5 203 1.5e-26 PFAM
Pfam:SRPRB 6 161 1.8e-5 PFAM
Pfam:MMR_HSR1 9 133 2.4e-5 PFAM
Pfam:cobW 74 161 1.3e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205014
SMART Domains Protein: ENSMUSP00000145448
Gene: ENSMUSG00000033216

DomainStartEndE-ValueType
Pfam:GTP_EFTU 5 93 2.4e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205179
AA Change: D104G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144839
Gene: ENSMUSG00000033216
AA Change: D104G

DomainStartEndE-ValueType
Pfam:GTP_EFTU 5 285 6e-26 PFAM
Pfam:SRPRB 6 161 8e-5 PFAM
Pfam:MMR_HSR1 9 133 1e-4 PFAM
Pfam:GTP_EFTU_D2 224 290 3.3e-7 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 A G 11: 83,341,384 N461S probably benign Het
Baz1a A T 12: 54,898,535 V1345E probably damaging Het
Ccdc60 T A 5: 116,131,146 M472L probably benign Het
Cenpf C T 1: 189,683,927 R67K probably damaging Het
Cfap45 A T 1: 172,538,493 R304S possibly damaging Het
D5Ertd579e T A 5: 36,618,828 probably benign Het
Eif2ak4 A G 2: 118,443,140 S849G probably damaging Het
Frem1 G A 4: 83,020,755 T30I possibly damaging Het
Glt28d2 A T 3: 85,871,802 H121Q possibly damaging Het
Hacl1 C T 14: 31,631,038 W106* probably null Het
March6 A G 15: 31,485,995 S376P probably damaging Het
Mkrn1 T C 6: 39,401,330 Y289C probably damaging Het
Msl2 A G 9: 101,100,768 T114A probably benign Het
Ntrk3 C A 7: 78,192,592 K829N probably damaging Het
Olfr32 A T 2: 90,139,070 V23E possibly damaging Het
Pcdhgc5 A T 18: 37,820,098 I142F probably damaging Het
Pip5kl1 A G 2: 32,578,154 R153G probably damaging Het
Rgs19 T C 2: 181,689,732 K93R probably benign Het
Slc36a4 T A 9: 15,723,549 V129E probably damaging Het
Spata13 T C 14: 60,751,792 L299P probably damaging Het
Tle2 T C 10: 81,586,251 S353P probably benign Het
Trav13-4-dv7 T C 14: 53,757,841 V84A probably benign Het
Vmn1r8 A T 6: 57,036,761 K266* probably null Het
Wwtr1 C A 3: 57,477,533 V255F probably benign Het
Other mutations in Eefsec
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Eefsec APN 6 88376279 missense possibly damaging 0.82
IGL02055:Eefsec APN 6 88376403 missense probably damaging 1.00
IGL03068:Eefsec APN 6 88258227 missense probably benign 0.00
R0137:Eefsec UTSW 6 88297649 missense probably benign 0.17
R0384:Eefsec UTSW 6 88281650 splice site probably null
R0456:Eefsec UTSW 6 88297888 missense probably benign 0.01
R0571:Eefsec UTSW 6 88297899 missense probably benign 0.00
R1051:Eefsec UTSW 6 88297847 missense probably benign 0.00
R1464:Eefsec UTSW 6 88376200 splice site probably benign
R1552:Eefsec UTSW 6 88376200 splice site probably benign
R1739:Eefsec UTSW 6 88376205 nonsense probably null
R2887:Eefsec UTSW 6 88258359 missense probably benign 0.01
R3944:Eefsec UTSW 6 88298094 missense probably benign 0.04
R4027:Eefsec UTSW 6 88376250 missense probably benign 0.22
R5113:Eefsec UTSW 6 88281575 missense probably damaging 1.00
R5924:Eefsec UTSW 6 88355547 missense probably damaging 0.99
R6062:Eefsec UTSW 6 88355629 missense probably benign 0.04
R6233:Eefsec UTSW 6 88358544 critical splice donor site probably null
R6484:Eefsec UTSW 6 88297788 missense probably damaging 0.99
R6524:Eefsec UTSW 6 88297920 splice site probably null
R6903:Eefsec UTSW 6 88446283 missense probably benign 0.45
R7614:Eefsec UTSW 6 88281594 missense possibly damaging 0.64
R7733:Eefsec UTSW 6 88376220 missense possibly damaging 0.80
R8110:Eefsec UTSW 6 88376330 missense probably damaging 1.00
Posted On2016-08-02