Incidental Mutation 'R4401:Eef1d'
ID 326646
Institutional Source Beutler Lab
Gene Symbol Eef1d
Ensembl Gene ENSMUSG00000055762
Gene Name eukaryotic translation elongation factor 1 delta
Synonyms 1700026P12Rik, 5730529A16Rik
MMRRC Submission 041132-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.328) question?
Stock # R4401 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 75766643-75781425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75774769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 213 (V213I)
Ref Sequence ENSEMBL: ENSMUSP00000114753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023235] [ENSMUST00000089680] [ENSMUST00000089681] [ENSMUST00000109972] [ENSMUST00000109975] [ENSMUST00000116440] [ENSMUST00000137426] [ENSMUST00000141268] [ENSMUST00000123712] [ENSMUST00000151066] [ENSMUST00000154584] [ENSMUST00000144614] [ENSMUST00000141475] [ENSMUST00000145764] [ENSMUST00000127550]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023235
SMART Domains Protein: ENSMUSP00000023235
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 62 75 N/A INTRINSIC
coiled coil region 82 120 N/A INTRINSIC
EF-1_beta_acid 159 186 2.53e-4 SMART
Pfam:EF1_GNE 195 245 3.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000055220
Predicted Effect probably benign
Transcript: ENSMUST00000089680
SMART Domains Protein: ENSMUSP00000087109
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 54 70 N/A INTRINSIC
coiled coil region 77 115 N/A INTRINSIC
EF-1_beta_acid 154 181 2.53e-4 SMART
EF1_GNE 190 276 4.87e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000089681
AA Change: V297I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087110
Gene: ENSMUSG00000055762
AA Change: V297I

DomainStartEndE-ValueType
low complexity region 32 52 N/A INTRINSIC
low complexity region 66 76 N/A INTRINSIC
internal_repeat_2 108 136 2.92e-5 PROSPERO
low complexity region 137 156 N/A INTRINSIC
internal_repeat_2 231 259 2.92e-5 PROSPERO
internal_repeat_1 244 263 2.02e-6 PROSPERO
internal_repeat_1 389 408 2.02e-6 PROSPERO
low complexity region 441 454 N/A INTRINSIC
coiled coil region 461 499 N/A INTRINSIC
EF-1_beta_acid 538 565 2.53e-4 SMART
EF1_GNE 574 660 4.87e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109972
SMART Domains Protein: ENSMUSP00000105599
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 35 51 N/A INTRINSIC
coiled coil region 58 96 N/A INTRINSIC
EF-1_beta_acid 135 162 2.53e-4 SMART
EF1_GNE 171 257 4.87e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109975
AA Change: V297I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105602
Gene: ENSMUSG00000055762
AA Change: V297I

DomainStartEndE-ValueType
low complexity region 32 52 N/A INTRINSIC
low complexity region 66 76 N/A INTRINSIC
internal_repeat_2 108 136 2.92e-5 PROSPERO
low complexity region 137 156 N/A INTRINSIC
internal_repeat_2 231 259 2.92e-5 PROSPERO
internal_repeat_1 244 263 2.02e-6 PROSPERO
internal_repeat_1 389 408 2.02e-6 PROSPERO
low complexity region 441 454 N/A INTRINSIC
coiled coil region 461 499 N/A INTRINSIC
EF-1_beta_acid 538 565 2.53e-4 SMART
EF1_GNE 574 660 4.87e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116440
SMART Domains Protein: ENSMUSP00000112141
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 35 51 N/A INTRINSIC
coiled coil region 58 96 N/A INTRINSIC
EF-1_beta_acid 135 162 2.53e-4 SMART
EF1_GNE 171 257 4.87e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137426
AA Change: V213I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114753
Gene: ENSMUSG00000055762
AA Change: V213I

DomainStartEndE-ValueType
low complexity region 53 72 N/A INTRINSIC
internal_repeat_1 160 179 9.48e-6 PROSPERO
internal_repeat_1 305 324 9.48e-6 PROSPERO
low complexity region 330 346 N/A INTRINSIC
coiled coil region 353 391 N/A INTRINSIC
EF-1_beta_acid 430 457 2.53e-4 SMART
EF1_GNE 466 552 4.87e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129800
Predicted Effect probably benign
Transcript: ENSMUST00000141268
SMART Domains Protein: ENSMUSP00000115553
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 78 94 N/A INTRINSIC
coiled coil region 101 139 N/A INTRINSIC
EF-1_beta_acid 178 205 2.53e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123712
SMART Domains Protein: ENSMUSP00000122155
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 35 51 N/A INTRINSIC
coiled coil region 58 96 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151066
SMART Domains Protein: ENSMUSP00000118889
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
EF-1_beta_acid 68 95 2.53e-4 SMART
EF1_GNE 104 190 4.87e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154584
SMART Domains Protein: ENSMUSP00000116360
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 62 75 N/A INTRINSIC
coiled coil region 82 120 N/A INTRINSIC
EF-1_beta_acid 159 186 1.2e-8 SMART
EF1_GNE 195 280 4.9e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144614
SMART Domains Protein: ENSMUSP00000123005
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 62 75 N/A INTRINSIC
coiled coil region 82 120 N/A INTRINSIC
EF-1_beta_acid 159 186 2.53e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141475
SMART Domains Protein: ENSMUSP00000123388
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 32 52 N/A INTRINSIC
low complexity region 66 76 N/A INTRINSIC
internal_repeat_1 122 136 7.17e-5 PROSPERO
low complexity region 137 156 N/A INTRINSIC
internal_repeat_1 174 188 7.17e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000145764
SMART Domains Protein: ENSMUSP00000117782
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 32 52 N/A INTRINSIC
low complexity region 66 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127550
SMART Domains Protein: ENSMUSP00000120735
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 32 52 N/A INTRINSIC
low complexity region 66 76 N/A INTRINSIC
low complexity region 137 156 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,752,390 (GRCm39) I454V possibly damaging Het
Acvr2a A G 2: 48,789,714 (GRCm39) T486A probably benign Het
Ap3b1 C A 13: 94,554,607 (GRCm39) L248I probably damaging Het
Atad2b T A 12: 4,990,145 (GRCm39) C157S probably damaging Het
Cage1 T A 13: 38,207,078 (GRCm39) I256F probably damaging Het
Cct2 A G 10: 116,893,714 (GRCm39) I287T possibly damaging Het
Cntn4 A G 6: 106,466,625 (GRCm39) T176A possibly damaging Het
Cracd G A 5: 76,996,763 (GRCm39) V74I probably damaging Het
Cyp2c54 T C 19: 40,060,615 (GRCm39) N122S probably benign Het
Cytip T C 2: 58,023,947 (GRCm39) D291G probably benign Het
Fnbp4 A G 2: 90,577,102 (GRCm39) T145A possibly damaging Het
Fras1 C A 5: 96,790,479 (GRCm39) T951K probably damaging Het
Gm11937 C T 11: 99,500,901 (GRCm39) V39M probably damaging Het
Gm6712 C T 17: 17,538,366 (GRCm39) noncoding transcript Het
Hira A G 16: 18,744,470 (GRCm39) I352V probably damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Lpcat2 T C 8: 93,599,683 (GRCm39) V217A possibly damaging Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Or2a25 G T 6: 42,889,260 (GRCm39) E268* probably null Het
Or4k35 A G 2: 111,100,178 (GRCm39) F178S probably damaging Het
Or51f5 C T 7: 102,424,006 (GRCm39) R92* probably null Het
Pla2g1b T A 5: 115,608,947 (GRCm39) Y47* probably null Het
Rfng A T 11: 120,673,306 (GRCm39) V245E possibly damaging Het
Rpf2 A G 10: 40,112,124 (GRCm39) V104A possibly damaging Het
Rps6kc1 G T 1: 190,532,155 (GRCm39) H616N probably benign Het
Slc66a1 T C 4: 139,033,854 (GRCm39) I22V probably benign Het
Slc9b2 T C 3: 135,042,305 (GRCm39) V528A probably benign Het
Srgap1 T C 10: 121,640,826 (GRCm39) probably null Het
Trrap A G 5: 144,780,128 (GRCm39) T3240A possibly damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Zfhx4 C A 3: 5,468,405 (GRCm39) Y2854* probably null Het
Zfp986 C T 4: 145,625,513 (GRCm39) R58C probably benign Het
Other mutations in Eef1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02066:Eef1d APN 15 75,768,704 (GRCm39) missense probably benign 0.10
IGL02265:Eef1d APN 15 75,775,283 (GRCm39) missense probably benign 0.00
IGL02609:Eef1d APN 15 75,768,162 (GRCm39) missense probably null 1.00
IGL02671:Eef1d APN 15 75,767,654 (GRCm39) missense probably damaging 1.00
IGL02728:Eef1d APN 15 75,774,945 (GRCm39) missense probably damaging 1.00
PIT4131001:Eef1d UTSW 15 75,775,581 (GRCm39) missense probably benign 0.01
R0034:Eef1d UTSW 15 75,774,808 (GRCm39) missense probably benign
R0523:Eef1d UTSW 15 75,775,005 (GRCm39) missense probably benign
R0831:Eef1d UTSW 15 75,768,655 (GRCm39) unclassified probably benign
R1164:Eef1d UTSW 15 75,774,526 (GRCm39) critical splice donor site probably null
R1467:Eef1d UTSW 15 75,767,770 (GRCm39) missense probably damaging 1.00
R1467:Eef1d UTSW 15 75,767,770 (GRCm39) missense probably damaging 1.00
R1594:Eef1d UTSW 15 75,768,195 (GRCm39) missense probably damaging 1.00
R1796:Eef1d UTSW 15 75,773,024 (GRCm39) missense probably damaging 1.00
R2039:Eef1d UTSW 15 75,767,618 (GRCm39) missense probably damaging 1.00
R2093:Eef1d UTSW 15 75,774,550 (GRCm39) missense probably benign 0.00
R2119:Eef1d UTSW 15 75,775,062 (GRCm39) missense probably benign 0.43
R2372:Eef1d UTSW 15 75,768,166 (GRCm39) missense probably damaging 1.00
R4403:Eef1d UTSW 15 75,774,769 (GRCm39) missense probably benign
R4425:Eef1d UTSW 15 75,774,648 (GRCm39) missense possibly damaging 0.92
R4614:Eef1d UTSW 15 75,775,425 (GRCm39) missense probably benign 0.00
R4791:Eef1d UTSW 15 75,775,531 (GRCm39) missense possibly damaging 0.85
R4864:Eef1d UTSW 15 75,775,255 (GRCm39) missense possibly damaging 0.73
R5376:Eef1d UTSW 15 75,775,038 (GRCm39) missense probably benign 0.25
R5377:Eef1d UTSW 15 75,775,038 (GRCm39) missense probably benign 0.25
R5415:Eef1d UTSW 15 75,775,030 (GRCm39) missense probably benign 0.00
R6966:Eef1d UTSW 15 75,775,558 (GRCm39) missense probably benign 0.06
R7640:Eef1d UTSW 15 75,774,556 (GRCm39) missense probably damaging 1.00
R8210:Eef1d UTSW 15 75,768,309 (GRCm39) missense probably damaging 1.00
R8988:Eef1d UTSW 15 75,768,160 (GRCm39) missense probably damaging 1.00
R9316:Eef1d UTSW 15 75,781,130 (GRCm39) unclassified probably benign
Z1177:Eef1d UTSW 15 75,774,727 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- TTCCTACTTGGGTCTCAGGC -3'
(R):5'- AGTGGTCTCAGTCCTTGCTG -3'

Sequencing Primer
(F):5'- CTCAGGCTGGACATGGATG -3'
(R):5'- AGGCTGTCACTCCTGACCTG -3'
Posted On 2015-07-07