Incidental Mutation 'R4206:Eif2d'
ID 318897
Institutional Source Beutler Lab
Gene Symbol Eif2d
Ensembl Gene ENSMUSG00000026427
Gene Name eukaryotic translation initiation factor 2D
Synonyms D1Ertd5e, Lgtn
MMRRC Submission 041035-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4206 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 131080918-131115395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131082100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 64 (Y64C)
Ref Sequence ENSEMBL: ENSMUSP00000138061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068791] [ENSMUST00000068805] [ENSMUST00000112446] [ENSMUST00000131855] [ENSMUST00000149119] [ENSMUST00000151874]
AlphaFold Q61211
Predicted Effect probably damaging
Transcript: ENSMUST00000068791
AA Change: Y64C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067461
Gene: ENSMUSG00000026427
AA Change: Y64C

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000068805
AA Change: Y64C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063894
Gene: ENSMUSG00000026427
AA Change: Y64C

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Pfam:SUI1 474 554 1.1e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112446
AA Change: Y64C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108065
Gene: ENSMUSG00000026427
AA Change: Y64C

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Pfam:SUI1 472 551 3.5e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131855
AA Change: Y64C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137678
Gene: ENSMUSG00000026427
AA Change: Y64C

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Pfam:SUI1 472 554 8.7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139468
Predicted Effect probably damaging
Transcript: ENSMUST00000149119
AA Change: Y64C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137887
Gene: ENSMUSG00000026427
AA Change: Y64C

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000151874
AA Change: Y64C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138061
Gene: ENSMUSG00000026427
AA Change: Y64C

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Pfam:SUI1 472 556 1e-13 PFAM
Meta Mutation Damage Score 0.9676 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a translation initiation factor involved in the recruitment and delivery of aminoacyl-tRNAs to the P-site of the eukaryotic ribosome in a GTP-independent manner. This gene was previously referred to as ligatin, but is now known to localize to the cytoplasm and localize and function with translation factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,315,435 (GRCm39) K81R probably benign Het
Acacb T C 5: 114,351,712 (GRCm39) F1150L probably benign Het
Acat3 A G 17: 13,146,273 (GRCm39) Y237H possibly damaging Het
Arfgap3 T C 15: 83,206,869 (GRCm39) T240A probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Cabin1 T C 10: 75,590,675 (GRCm39) S23G possibly damaging Het
Cemip2 G T 19: 21,819,479 (GRCm39) R1090L probably damaging Het
Clasp1 A G 1: 118,506,636 (GRCm39) N949S probably damaging Het
Csrp1 T G 1: 135,673,065 (GRCm39) C61G probably damaging Het
Dgka A T 10: 128,557,064 (GRCm39) L637Q probably damaging Het
Dst G A 1: 34,251,328 (GRCm39) R1801H probably damaging Het
Edil3 T C 13: 89,328,397 (GRCm39) S284P probably damaging Het
Ell2 A G 13: 75,910,067 (GRCm39) D139G probably damaging Het
Fam187a A G 11: 102,777,038 (GRCm39) R281G probably damaging Het
Gin1 A G 1: 97,720,145 (GRCm39) D380G possibly damaging Het
Gpr149 T G 3: 62,511,924 (GRCm39) D25A possibly damaging Het
Gyg1 A G 3: 20,206,901 (GRCm39) S90P probably benign Het
Hpx C T 7: 105,244,354 (GRCm39) M190I probably null Het
Irf2bpl C T 12: 86,929,810 (GRCm39) V288I probably benign Het
Lyst A G 13: 13,810,574 (GRCm39) H748R probably benign Het
Mmrn1 G A 6: 60,935,164 (GRCm39) G220D probably damaging Het
Mpdz A T 4: 81,299,999 (GRCm39) M333K probably benign Het
Muc5ac C T 7: 141,370,847 (GRCm39) S2556F possibly damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Ntsr1 A G 2: 180,142,545 (GRCm39) D112G probably damaging Het
Or56b1 T A 7: 104,285,356 (GRCm39) N158K possibly damaging Het
Or7a42 T C 10: 78,791,117 (GRCm39) F26S probably benign Het
Or9s14 A C 1: 92,536,317 (GRCm39) T253P possibly damaging Het
Parg A G 14: 31,976,493 (GRCm39) K178R probably benign Het
Pde8b C A 13: 95,359,053 (GRCm39) C90F probably benign Het
Pld1 G A 3: 28,174,932 (GRCm39) V857I probably benign Het
Rad54l2 A C 9: 106,594,994 (GRCm39) V321G probably damaging Het
Rcn2 A G 9: 55,952,491 (GRCm39) Y112C possibly damaging Het
Rnf123 A T 9: 107,941,162 (GRCm39) D639E probably benign Het
Rufy2 C T 10: 62,840,551 (GRCm39) Q441* probably null Het
Scgb2b12 T C 7: 32,026,063 (GRCm39) Y43C probably damaging Het
Scrn3 T A 2: 73,149,845 (GRCm39) probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc22a8 T C 19: 8,585,597 (GRCm39) S321P probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tex2 A G 11: 106,458,398 (GRCm39) probably benign Het
Trip13 A G 13: 74,081,009 (GRCm39) I119T probably benign Het
Tsku C T 7: 98,002,205 (GRCm39) R42H probably damaging Het
Ttn A G 2: 76,602,911 (GRCm39) I16691T possibly damaging Het
Tyr A G 7: 87,078,276 (GRCm39) L528P possibly damaging Het
Ubxn2b T C 4: 6,204,565 (GRCm39) V142A probably damaging Het
Uggt2 C T 14: 119,286,674 (GRCm39) D221N probably damaging Het
Wnt4 A G 4: 137,023,654 (GRCm39) K207R possibly damaging Het
Zfp608 T C 18: 55,121,267 (GRCm39) R107G probably damaging Het
Other mutations in Eif2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Eif2d APN 1 131,094,089 (GRCm39) missense probably benign 0.06
IGL00848:Eif2d APN 1 131,092,173 (GRCm39) nonsense probably null
IGL02250:Eif2d APN 1 131,088,166 (GRCm39) missense probably benign 0.34
IGL02423:Eif2d APN 1 131,081,097 (GRCm39) utr 5 prime probably benign
IGL02877:Eif2d APN 1 131,092,854 (GRCm39) splice site probably benign
R0001:Eif2d UTSW 1 131,095,864 (GRCm39) nonsense probably null
R0593:Eif2d UTSW 1 131,083,465 (GRCm39) splice site probably benign
R0739:Eif2d UTSW 1 131,082,100 (GRCm39) missense probably damaging 1.00
R1842:Eif2d UTSW 1 131,098,797 (GRCm39) missense probably damaging 1.00
R2088:Eif2d UTSW 1 131,092,464 (GRCm39) missense probably damaging 0.98
R4732:Eif2d UTSW 1 131,092,464 (GRCm39) missense probably damaging 0.98
R4733:Eif2d UTSW 1 131,092,464 (GRCm39) missense probably damaging 0.98
R4734:Eif2d UTSW 1 131,092,889 (GRCm39) missense probably damaging 1.00
R4931:Eif2d UTSW 1 131,082,128 (GRCm39) missense probably damaging 1.00
R5281:Eif2d UTSW 1 131,101,080 (GRCm39) missense probably damaging 1.00
R5419:Eif2d UTSW 1 131,086,035 (GRCm39) makesense probably null
R5773:Eif2d UTSW 1 131,086,040 (GRCm39) splice site probably null
R6074:Eif2d UTSW 1 131,094,079 (GRCm39) missense probably damaging 1.00
R6947:Eif2d UTSW 1 131,092,404 (GRCm39) missense probably benign 0.00
R7396:Eif2d UTSW 1 131,094,111 (GRCm39) missense probably benign 0.13
R7419:Eif2d UTSW 1 131,098,793 (GRCm39) missense probably benign 0.00
R7630:Eif2d UTSW 1 131,082,103 (GRCm39) missense probably benign 0.01
R7910:Eif2d UTSW 1 131,082,950 (GRCm39) missense probably damaging 1.00
R8295:Eif2d UTSW 1 131,085,988 (GRCm39) missense probably benign 0.37
R8471:Eif2d UTSW 1 131,092,155 (GRCm39) missense probably benign 0.25
R9217:Eif2d UTSW 1 131,085,972 (GRCm39) missense possibly damaging 0.52
R9488:Eif2d UTSW 1 131,082,962 (GRCm39) missense probably damaging 1.00
R9722:Eif2d UTSW 1 131,092,948 (GRCm39) critical splice donor site probably null
Z1176:Eif2d UTSW 1 131,092,239 (GRCm39) missense probably damaging 0.98
Z1176:Eif2d UTSW 1 131,092,202 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CGAACCAGGCAGTCTTTCTTC -3'
(R):5'- ACTAGGTCCCAGAAGATCCTTAGG -3'

Sequencing Primer
(F):5'- AGGCAGTCTTTCTTCAGTCTTTATG -3'
(R):5'- GTCCCAGAAGATCCTTAGGAATAG -3'
Posted On 2015-06-10