Incidental Mutation 'R5816:Eif5a'
ID 449054
Institutional Source Beutler Lab
Gene Symbol Eif5a
Ensembl Gene ENSMUSG00000078812
Gene Name eukaryotic translation initiation factor 5A
Synonyms D19Wsu54e
MMRRC Submission 043214-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R5816 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69807540-69812784 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69808499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 109 (R109Q)
Ref Sequence ENSEMBL: ENSMUSP00000132717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043419] [ENSMUST00000057884] [ENSMUST00000061837] [ENSMUST00000070996] [ENSMUST00000071026] [ENSMUST00000072581] [ENSMUST00000108607] [ENSMUST00000108608] [ENSMUST00000108609] [ENSMUST00000108610] [ENSMUST00000108611] [ENSMUST00000108612] [ENSMUST00000108613] [ENSMUST00000116358] [ENSMUST00000108617] [ENSMUST00000133203] [ENSMUST00000152589] [ENSMUST00000153652] [ENSMUST00000164359] [ENSMUST00000134581] [ENSMUST00000177476] [ENSMUST00000177138]
AlphaFold P63242
Predicted Effect possibly damaging
Transcript: ENSMUST00000043419
AA Change: R109Q

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047008
Gene: ENSMUSG00000078812
AA Change: R109Q

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
eIF-5a 83 150 2.43e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000057884
SMART Domains Protein: ENSMUSP00000054072
Gene: ENSMUSG00000023170

DomainStartEndE-ValueType
Pfam:G_path_suppress 5 294 6.1e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061837
SMART Domains Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284

DomainStartEndE-ValueType
low complexity region 3 44 N/A INTRINSIC
NEUZ 47 165 1.02e-28 SMART
low complexity region 207 237 N/A INTRINSIC
NEUZ 317 442 7.22e-52 SMART
low complexity region 492 503 N/A INTRINSIC
NEUZ 520 644 6.15e-46 SMART
low complexity region 686 700 N/A INTRINSIC
NEUZ 716 840 7.81e-39 SMART
NEUZ 913 1043 2.27e-17 SMART
low complexity region 1108 1117 N/A INTRINSIC
NEUZ 1130 1250 4.93e-6 SMART
low complexity region 1453 1464 N/A INTRINSIC
low complexity region 1474 1483 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000070996
AA Change: R109Q

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000067077
Gene: ENSMUSG00000078812
AA Change: R109Q

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000071026
AA Change: R109Q

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000068651
Gene: ENSMUSG00000078812
AA Change: R109Q

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072581
SMART Domains Protein: ENSMUSP00000072389
Gene: ENSMUSG00000023170

DomainStartEndE-ValueType
SCOP:d1jjva_ 22 83 9e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108607
AA Change: R109Q

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104247
Gene: ENSMUSG00000078812
AA Change: R109Q

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108608
AA Change: R109Q

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104248
Gene: ENSMUSG00000078812
AA Change: R109Q

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108609
AA Change: R109Q

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104249
Gene: ENSMUSG00000078812
AA Change: R109Q

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108610
AA Change: R109Q

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104250
Gene: ENSMUSG00000078812
AA Change: R109Q

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108611
AA Change: R109Q

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104251
Gene: ENSMUSG00000078812
AA Change: R109Q

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108612
AA Change: R109Q

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104252
Gene: ENSMUSG00000078812
AA Change: R109Q

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108613
AA Change: R109Q

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104253
Gene: ENSMUSG00000078812
AA Change: R109Q

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124596
Predicted Effect probably benign
Transcript: ENSMUST00000116358
SMART Domains Protein: ENSMUSP00000112062
Gene: ENSMUSG00000023170

DomainStartEndE-ValueType
SCOP:d1jjva_ 22 83 9e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108617
SMART Domains Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284

DomainStartEndE-ValueType
low complexity region 3 44 N/A INTRINSIC
NEUZ 47 165 3.5e-31 SMART
low complexity region 207 237 N/A INTRINSIC
NEUZ 295 420 2.5e-54 SMART
low complexity region 470 481 N/A INTRINSIC
NEUZ 498 622 2e-48 SMART
low complexity region 664 678 N/A INTRINSIC
NEUZ 694 818 2.6e-41 SMART
NEUZ 891 1021 7.6e-20 SMART
low complexity region 1086 1095 N/A INTRINSIC
NEUZ 1108 1228 1.7e-8 SMART
low complexity region 1431 1442 N/A INTRINSIC
low complexity region 1452 1461 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132183
SMART Domains Protein: ENSMUSP00000118868
Gene: ENSMUSG00000047284

DomainStartEndE-ValueType
low complexity region 161 172 N/A INTRINSIC
low complexity region 182 191 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133203
SMART Domains Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284

DomainStartEndE-ValueType
NEUZ 60 185 7.22e-52 SMART
low complexity region 235 246 N/A INTRINSIC
NEUZ 263 387 6.15e-46 SMART
low complexity region 429 443 N/A INTRINSIC
NEUZ 459 583 7.81e-39 SMART
NEUZ 656 786 2.27e-17 SMART
low complexity region 851 860 N/A INTRINSIC
Pfam:Neuralized 875 942 6.5e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000152589
AA Change: R109Q

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123402
Gene: ENSMUSG00000078812
AA Change: R109Q

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 2e-39 SMART
Pfam:eIF-5a 83 149 6.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153652
AA Change: R31Q

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000137459
Gene: ENSMUSG00000078812
AA Change: R31Q

DomainStartEndE-ValueType
Pfam:eIF-5a 5 72 1.7e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000164359
AA Change: R109Q

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132717
Gene: ENSMUSG00000078812
AA Change: R109Q

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134581
Predicted Effect probably benign
Transcript: ENSMUST00000177476
SMART Domains Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284

DomainStartEndE-ValueType
low complexity region 3 44 N/A INTRINSIC
NEUZ 47 165 1.02e-28 SMART
low complexity region 207 237 N/A INTRINSIC
NEUZ 317 442 7.22e-52 SMART
low complexity region 492 503 N/A INTRINSIC
NEUZ 520 644 6.15e-46 SMART
low complexity region 686 700 N/A INTRINSIC
NEUZ 716 840 7.81e-39 SMART
NEUZ 911 1041 2.27e-17 SMART
low complexity region 1106 1115 N/A INTRINSIC
NEUZ 1128 1248 4.93e-6 SMART
low complexity region 1451 1462 N/A INTRINSIC
low complexity region 1472 1481 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177138
SMART Domains Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284

DomainStartEndE-ValueType
low complexity region 3 44 N/A INTRINSIC
NEUZ 47 165 1.02e-28 SMART
low complexity region 207 237 N/A INTRINSIC
NEUZ 295 420 7.22e-52 SMART
low complexity region 470 481 N/A INTRINSIC
NEUZ 498 622 6.15e-46 SMART
low complexity region 664 678 N/A INTRINSIC
NEUZ 694 818 7.81e-39 SMART
NEUZ 889 1019 2.27e-17 SMART
low complexity region 1084 1093 N/A INTRINSIC
NEUZ 1106 1226 4.93e-6 SMART
low complexity region 1429 1440 N/A INTRINSIC
low complexity region 1450 1459 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an elongation initiation factor, which participates in protein synthesis. The encoded protein also plays roles in mRNA metabolism, cell proliferation, and cell cycle control. This protein contains a modified lysine residue called hypusine, which appears to be necessary for its function. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2, 5, and 19. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,234,563 (GRCm39) D1501G probably damaging Het
Aldh8a1 A T 10: 21,271,329 (GRCm39) I352F probably damaging Het
Bend7 G A 2: 4,749,143 (GRCm39) E87K probably damaging Het
Bend7 A G 2: 4,757,710 (GRCm39) R251G probably benign Het
Cep72 A T 13: 74,197,150 (GRCm39) S402T probably benign Het
Cer1 A G 4: 82,801,120 (GRCm39) V181A probably damaging Het
Ces1b T C 8: 93,799,890 (GRCm39) N162S probably benign Het
Cyp1a2 T C 9: 57,588,336 (GRCm39) N296S probably benign Het
Cyria A G 12: 12,408,166 (GRCm39) D64G probably benign Het
Dst C T 1: 34,218,315 (GRCm39) A1585V probably benign Het
Dzip1 G A 14: 119,146,892 (GRCm39) P339L probably benign Het
Eif4enif1 T C 11: 3,192,401 (GRCm39) I568T probably benign Het
Foxj2 G A 6: 122,810,695 (GRCm39) S225N probably benign Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,926 (GRCm39) probably benign Het
Galnt14 T C 17: 73,881,877 (GRCm39) Y74C probably damaging Het
Glrb T A 3: 80,769,286 (GRCm39) N147I probably damaging Het
Grb14 A T 2: 64,747,628 (GRCm39) M377K probably damaging Het
Kcng1 C T 2: 168,110,643 (GRCm39) E174K possibly damaging Het
Kdm3b A C 18: 34,961,522 (GRCm39) E1433A probably damaging Het
Matn3 G A 12: 9,020,571 (GRCm39) R481H probably damaging Het
Mcm6 A G 1: 128,276,192 (GRCm39) V331A probably benign Het
Mdga2 T C 12: 66,701,956 (GRCm39) Y415C probably damaging Het
Med11 T C 11: 70,343,111 (GRCm39) S65P probably damaging Het
Metrnl T A 11: 121,598,938 (GRCm39) S166T probably benign Het
Mllt6 A G 11: 97,563,400 (GRCm39) K328E probably damaging Het
Nek5 T C 8: 22,586,752 (GRCm39) K353R probably benign Het
Or52ab4 A G 7: 102,988,202 (GRCm39) T314A probably benign Het
Or8g52 T A 9: 39,630,526 (GRCm39) M1K probably null Het
Pfkl A T 10: 77,837,856 (GRCm39) N46K possibly damaging Het
Phactr3 A G 2: 177,944,586 (GRCm39) E428G probably damaging Het
Pkhd1 T C 1: 20,128,902 (GRCm39) S3934G probably benign Het
Pkhd1l1 A G 15: 44,429,718 (GRCm39) D3312G probably benign Het
Prmt8 G A 6: 127,674,701 (GRCm39) T309I probably benign Het
Psd3 A T 8: 68,413,162 (GRCm39) V742E possibly damaging Het
S100a14 A G 3: 90,435,157 (GRCm39) H56R probably damaging Het
Scaf8 T A 17: 3,227,988 (GRCm39) S406T unknown Het
Slc26a4 G T 12: 31,578,684 (GRCm39) H656Q probably damaging Het
Smarcc1 T C 9: 110,026,712 (GRCm39) V724A possibly damaging Het
Thbs2 C T 17: 14,904,333 (GRCm39) probably null Het
Zbtb6 A T 2: 37,319,227 (GRCm39) F234I probably benign Het
Zfp536 C T 7: 37,180,053 (GRCm39) D851N probably damaging Het
Other mutations in Eif5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02530:Eif5a APN 11 69,809,989 (GRCm39) missense possibly damaging 0.78
P0042:Eif5a UTSW 11 69,808,728 (GRCm39) unclassified probably benign
PIT4585001:Eif5a UTSW 11 69,808,896 (GRCm39) unclassified probably benign
R0320:Eif5a UTSW 11 69,808,305 (GRCm39) missense probably benign 0.08
R4909:Eif5a UTSW 11 69,808,311 (GRCm39) missense possibly damaging 0.94
R9779:Eif5a UTSW 11 69,810,021 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCCTTGATTGCAACAGCTG -3'
(R):5'- TGCACCTTGTGGGGAAAGAG -3'

Sequencing Primer
(F):5'- GCAGACAGCACTGTGATCTG -3'
(R):5'- GGGAGCTGGTAAAGGCTGTG -3'
Posted On 2016-12-20