Incidental Mutation 'R4734:Eif2d'
ID359128
Institutional Source Beutler Lab
Gene Symbol Eif2d
Ensembl Gene ENSMUSG00000026427
Gene Nameeukaryotic translation initiation factor 2D
SynonymsLgtn, D1Ertd5e
MMRRC Submission 041961-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #R4734 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location131153181-131187658 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 131165152 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 399 (R399L)
Ref Sequence ENSEMBL: ENSMUSP00000138061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068791] [ENSMUST00000068805] [ENSMUST00000112446] [ENSMUST00000131855] [ENSMUST00000149119] [ENSMUST00000151874]
Predicted Effect probably damaging
Transcript: ENSMUST00000068791
AA Change: R349L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067461
Gene: ENSMUSG00000026427
AA Change: R349L

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: R399L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063894
Gene: ENSMUSG00000026427
AA Change: R399L

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: R399L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108065
Gene: ENSMUSG00000026427
AA Change: R399L

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: R399L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137678
Gene: ENSMUSG00000026427
AA Change: R399L

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 probably benign
Transcript: ENSMUST00000149119
SMART Domains Protein: ENSMUSP00000137887
Gene: ENSMUSG00000026427

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000151874
AA Change: R399L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138061
Gene: ENSMUSG00000026427
AA Change: R399L

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Pfam:SUI1 472 556 1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153651
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029J07Rik A T 8: 45,970,417 M86K possibly damaging Het
2700062C07Rik A G 18: 24,470,904 M1V probably null Het
Abcb11 T A 2: 69,323,962 T87S possibly damaging Het
Arap3 A G 18: 37,996,275 V210A probably benign Het
Avl9 T C 6: 56,736,494 S246P probably damaging Het
Ccdc88a A G 11: 29,482,720 K222R probably benign Het
Chsy3 C A 18: 59,179,413 F319L probably benign Het
Coro2b T C 9: 62,426,578 T345A probably benign Het
Cpb1 A G 3: 20,263,712 V216A probably benign Het
Cyp2c65 A G 19: 39,072,334 I213V probably benign Het
Dcaf15 A G 8: 84,097,728 C586R probably benign Het
Ddr2 T A 1: 169,998,088 E314D probably benign Het
Dennd5a C T 7: 109,896,336 R1196H probably damaging Het
Dnah9 G A 11: 65,834,115 A4404V probably damaging Het
Dpf2 A G 19: 5,906,999 probably null Het
Eif2ak4 A T 2: 118,422,087 H302L probably damaging Het
Fat2 A G 11: 55,311,468 V260A probably benign Het
Fhod3 T A 18: 25,028,135 Y575N probably benign Het
Fscb T C 12: 64,474,470 E74G possibly damaging Het
Gdpd2 G A X: 100,734,193 M243I possibly damaging Het
Glra1 C A 11: 55,536,384 D42Y probably damaging Het
Gm281 T C 14: 13,845,292 N540S probably benign Het
Gm8882 T A 6: 132,361,928 N109I unknown Het
Gnl2 T C 4: 125,041,018 F156L probably benign Het
Gpr37 C A 6: 25,689,086 R4L possibly damaging Het
Hectd4 A T 5: 121,341,977 H2892L possibly damaging Het
Helb T C 10: 120,084,849 D1063G probably benign Het
Htr2c A G X: 147,193,797 T163A probably benign Het
Impact T A 18: 12,985,289 H188Q probably damaging Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Lnx2 C T 5: 147,029,137 G391R probably damaging Het
Lrrc19 T C 4: 94,638,349 I324V probably benign Het
Lrrcc1 G T 3: 14,562,285 Q458H probably damaging Het
Maml3 A T 3: 51,689,875 D483E probably damaging Het
Mef2c T A 13: 83,662,629 *467R probably null Het
Mms19 T A 19: 41,944,558 S1031C probably damaging Het
Myt1l T C 12: 29,919,926 I143T possibly damaging Het
Nuggc T C 14: 65,623,230 Y426H probably damaging Het
Oit3 A T 10: 59,424,082 C500S probably damaging Het
Olfr464 T A 11: 87,914,190 T239S probably damaging Het
Olfr470 T C 7: 107,845,428 I102V probably benign Het
Olfr491 A T 7: 108,317,752 N286I probably damaging Het
Olfr566 A G 7: 102,856,979 I101T probably damaging Het
Oog2 T C 4: 144,196,451 S429P probably benign Het
Pcnt T C 10: 76,437,206 D93G probably benign Het
Pdia5 A T 16: 35,456,513 M95K probably benign Het
Pdzrn4 A T 15: 92,770,252 R762* probably null Het
Piezo1 G T 8: 122,498,206 Q654K probably damaging Het
Ppil3 A G 1: 58,431,269 Y141H probably benign Het
Rassf8 G T 6: 145,815,540 K197N probably benign Het
Ryr2 T C 13: 11,737,753 Q1894R probably damaging Het
Ryr3 T A 2: 112,910,502 N487Y probably damaging Het
Scn5a T C 9: 119,539,538 Y307C probably damaging Het
Sdad1 C T 5: 92,304,977 R134Q possibly damaging Het
Shroom1 C T 11: 53,465,233 S370F probably damaging Het
Slc29a3 A G 10: 60,716,326 V313A probably benign Het
Slc2a9 C A 5: 38,382,099 G353C probably damaging Het
Snx33 T A 9: 56,925,901 T295S possibly damaging Het
Spata31d1b G A 13: 59,718,358 V1107M probably damaging Het
Supt6 T C 11: 78,224,683 D761G probably benign Het
Tfeb T C 17: 47,785,862 V18A probably benign Het
Thap12 G T 7: 98,715,954 C443F probably damaging Het
Thap12 T A 7: 98,715,955 C443* probably null Het
Tmem67 T C 4: 12,063,158 D496G probably benign Het
Trappc8 G A 18: 20,841,572 R900* probably null Het
Trim9 T C 12: 70,248,273 N688D probably damaging Het
Trmt1l A T 1: 151,442,637 I80L probably benign Het
Trpm5 C A 7: 143,082,785 V472L probably benign Het
Tspear C T 10: 77,864,695 L120F probably damaging Het
Ttc9b G A 7: 27,656,018 V238M probably benign Het
Usp20 A G 2: 31,019,824 I819V probably benign Het
Vmn2r102 T A 17: 19,677,533 V270E probably damaging Het
Vmn2r63 C T 7: 42,928,120 M331I probably benign Het
Zc3h18 A T 8: 122,383,643 D77V probably damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 105,483,744 probably null Het
Other mutations in Eif2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Eif2d APN 1 131166352 missense probably benign 0.06
IGL00848:Eif2d APN 1 131164436 nonsense probably null
IGL02250:Eif2d APN 1 131160429 missense probably benign 0.34
IGL02423:Eif2d APN 1 131153360 utr 5 prime probably benign
IGL02877:Eif2d APN 1 131165117 splice site probably benign
R0001:Eif2d UTSW 1 131168127 nonsense probably null
R0593:Eif2d UTSW 1 131155728 splice site probably benign
R0739:Eif2d UTSW 1 131154363 missense probably damaging 1.00
R1842:Eif2d UTSW 1 131171060 missense probably damaging 1.00
R2088:Eif2d UTSW 1 131164727 missense probably damaging 0.98
R4206:Eif2d UTSW 1 131154363 missense probably damaging 1.00
R4732:Eif2d UTSW 1 131164727 missense probably damaging 0.98
R4733:Eif2d UTSW 1 131164727 missense probably damaging 0.98
R4931:Eif2d UTSW 1 131154391 missense probably damaging 1.00
R5281:Eif2d UTSW 1 131173343 missense probably damaging 1.00
R5419:Eif2d UTSW 1 131158298 makesense probably null
R5773:Eif2d UTSW 1 131158303 splice site probably null
R6074:Eif2d UTSW 1 131166342 missense probably damaging 1.00
R6947:Eif2d UTSW 1 131164667 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCATTTCATGTAGCCCTGC -3'
(R):5'- AAACCCTGAATCTGCCTGTTTC -3'

Sequencing Primer
(F):5'- TGCTTGCCTCCCTTAGGG -3'
(R):5'- GACTTGACAGAAAGTGCCATTACTC -3'
Posted On2015-11-11