Incidental Mutation 'R4931:Eif2d'
ID 380537
Institutional Source Beutler Lab
Gene Symbol Eif2d
Ensembl Gene ENSMUSG00000026427
Gene Name eukaryotic translation initiation factor 2D
Synonyms D1Ertd5e, Lgtn
MMRRC Submission 042532-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4931 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 131080918-131115395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131082128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 73 (F73L)
Ref Sequence ENSEMBL: ENSMUSP00000137678 (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: F73L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067461
Gene: ENSMUSG00000026427
AA Change: F73L

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: F73L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063894
Gene: ENSMUSG00000026427
AA Change: F73L

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: F73L

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108065
Gene: ENSMUSG00000026427
AA Change: F73L

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: F73L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137678
Gene: ENSMUSG00000026427
AA Change: F73L

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: F73L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137887
Gene: ENSMUSG00000026427
AA Change: F73L

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000151874
AA Change: F73L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138061
Gene: ENSMUSG00000026427
AA Change: F73L

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 0.5562 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Aldh1b1 A C 4: 45,803,661 (GRCm39) I400L probably benign Het
Ankrd40 T A 11: 94,225,647 (GRCm39) L226Q probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Chrnb3 T C 8: 27,884,258 (GRCm39) S317P probably damaging Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dhx9 G A 1: 153,348,419 (GRCm39) P302L probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Duox2 T C 2: 122,127,236 (GRCm39) N147S probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Egf A G 3: 129,505,117 (GRCm39) F118S probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gpatch8 T C 11: 102,372,050 (GRCm39) E496G unknown Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgad A T 7: 127,803,797 (GRCm39) I64F probably damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Ltbr G T 6: 125,284,437 (GRCm39) probably null Het
Magel2 A G 7: 62,030,372 (GRCm39) D1092G unknown Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Prkacb T C 3: 146,453,732 (GRCm39) I211V possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sf3b3 C T 8: 111,542,961 (GRCm39) R832Q probably benign Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Spire2 A G 8: 124,095,523 (GRCm39) D542G possibly damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Tcl1 G T 12: 105,188,872 (GRCm39) H14N probably damaging Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R 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
R4206:Eif2d UTSW 1 131,082,100 (GRCm39) missense probably damaging 1.00
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
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'- CACGAACCAGGCAGTCTTTC -3'
(R):5'- TAGGTCCCAGAAGATCCTTAGG -3'

Sequencing Primer
(F):5'- GAACCAGGCAGTCTTTCTTCAG -3'
(R):5'- GTCCCAGAAGATCCTTAGGAATAG -3'
Posted On 2016-04-15