Incidental Mutation 'R7396:Eif2d'
ID 573789
Institutional Source Beutler Lab
Gene Symbol Eif2d
Ensembl Gene ENSMUSG00000026427
Gene Name eukaryotic translation initiation factor 2D
Synonyms D1Ertd5e, Lgtn
MMRRC Submission 045478-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7396 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 131080918-131115395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 131094111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 434 (N434I)
Ref Sequence ENSEMBL: ENSMUSP00000108065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068791] [ENSMUST00000068805] [ENSMUST00000112446] [ENSMUST00000131855] [ENSMUST00000149119] [ENSMUST00000151874]
AlphaFold Q61211
Predicted Effect possibly damaging
Transcript: ENSMUST00000068791
AA Change: N384I

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000067461
Gene: ENSMUSG00000026427
AA Change: N384I

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000068805
AA Change: N434I

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000063894
Gene: ENSMUSG00000026427
AA Change: N434I

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 benign
Transcript: ENSMUST00000112446
AA Change: N434I

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108065
Gene: ENSMUSG00000026427
AA Change: N434I

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 benign
Transcript: ENSMUST00000131855
AA Change: N434I

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000137678
Gene: ENSMUSG00000026427
AA Change: N434I

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 benign
Transcript: ENSMUST00000151874
AA Change: N434I

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138061
Gene: ENSMUSG00000026427
AA Change: N434I

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Pfam:SUI1 472 556 1e-13 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (79/79)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830403N18Rik G T X: 55,184,140 (GRCm39) probably null Het
Abcb5 A G 12: 118,831,609 (GRCm39) Y1248H probably damaging Het
Acacb A G 5: 114,351,722 (GRCm39) D1153G possibly damaging Het
Acsm3 T A 7: 119,373,052 (GRCm39) L185H probably damaging Het
Actr1a G A 19: 46,368,068 (GRCm39) T293I probably benign Het
Adig T C 2: 158,347,836 (GRCm39) L50P unknown Het
Ankrd28 A G 14: 31,424,159 (GRCm39) S994P probably benign Het
Ankrd35 T A 3: 96,590,813 (GRCm39) D366E probably damaging Het
Aqr A T 2: 113,950,427 (GRCm39) Y927* probably null Het
Asxl2 T A 12: 3,492,529 (GRCm39) I38N probably damaging Het
Atp9b T C 18: 80,780,057 (GRCm39) I1092V Het
B4galnt1 A G 10: 127,007,485 (GRCm39) E462G possibly damaging Het
BC048671 T A 6: 90,280,273 (GRCm39) V63E probably damaging Het
Bod1l A G 5: 41,988,889 (GRCm39) V406A probably damaging Het
Btn1a1 T G 13: 23,645,668 (GRCm39) I234L probably benign Het
Camk2b A C 11: 5,928,432 (GRCm39) S436A probably benign Het
Cc2d1a A T 8: 84,870,374 (GRCm39) probably null Het
Ces1b G T 8: 93,789,757 (GRCm39) N390K probably benign Het
Chpf T C 1: 75,451,927 (GRCm39) Q671R probably benign Het
Cspg4b T A 13: 113,455,524 (GRCm39) S523R Het
Dbr1 C A 9: 99,465,443 (GRCm39) N340K probably damaging Het
Dram1 T A 10: 88,176,507 (GRCm39) T73S probably benign Het
Efemp1 A T 11: 28,817,501 (GRCm39) R39S possibly damaging Het
Eif2b5 T G 16: 20,324,887 (GRCm39) I515S possibly damaging Het
Ercc6 C T 14: 32,291,762 (GRCm39) T1042I probably benign Het
Etl4 C T 2: 20,803,449 (GRCm39) P1057L possibly damaging Het
Fbxw16 T A 9: 109,278,091 (GRCm39) N29I probably damaging Het
Fbxw18 T C 9: 109,517,954 (GRCm39) D344G probably benign Het
Fgf15 G T 7: 144,453,542 (GRCm39) V172L probably benign Het
Fmod T C 1: 133,967,978 (GRCm39) V6A probably benign Het
Furin C A 7: 80,047,862 (GRCm39) R86L probably benign Het
Gabrr1 T C 4: 33,160,207 (GRCm39) V297A probably damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Helb T C 10: 119,925,476 (GRCm39) D967G probably benign Het
Hmcn1 T C 1: 150,439,382 (GRCm39) T5601A possibly damaging Het
Hsbp1l1 G T 18: 80,276,634 (GRCm39) P70Q not run Het
Hsd17b1 T C 11: 100,970,033 (GRCm39) V155A probably damaging Het
Ireb2 T A 9: 54,789,617 (GRCm39) M97K possibly damaging Het
Kcnj6 C A 16: 94,563,306 (GRCm39) L397F probably benign Het
Lcorl A T 5: 46,014,801 (GRCm39) probably null Het
Lgi2 A T 5: 52,695,753 (GRCm39) I402N probably damaging Het
Lrat T A 3: 82,810,590 (GRCm39) R144* probably null Het
Mfhas1 G T 8: 36,057,353 (GRCm39) L609F probably damaging Het
Mink1 T A 11: 70,495,994 (GRCm39) I398K possibly damaging Het
Muc5ac A T 7: 141,362,152 (GRCm39) D1821V unknown Het
Myh2 T C 11: 67,085,554 (GRCm39) probably null Het
Ncor1 T C 11: 62,234,044 (GRCm39) E386G probably damaging Het
Ndufaf3 C T 9: 108,443,802 (GRCm39) V76M probably damaging Het
Neurod4 T C 10: 130,106,891 (GRCm39) T128A probably damaging Het
Ogfod1 T A 8: 94,765,615 (GRCm39) D59E probably benign Het
Or2j6 C T 7: 139,980,476 (GRCm39) R161H probably benign Het
Or2w1b T C 13: 21,300,477 (GRCm39) V205A probably benign Het
Or52n2b C T 7: 104,565,558 (GRCm39) S315N probably benign Het
Pcdh15 T A 10: 74,466,522 (GRCm39) V1513D probably benign Het
Pclo C A 5: 14,589,902 (GRCm39) T734K unknown Het
Phc2 A G 4: 128,641,954 (GRCm39) R759G probably benign Het
Plch1 A T 3: 63,606,375 (GRCm39) N1176K probably benign Het
Plec T A 15: 76,059,089 (GRCm39) Y3616F probably damaging Het
Ptpn11 G T 5: 121,282,707 (GRCm39) T426N probably benign Het
Rictor A G 15: 6,816,462 (GRCm39) T1245A not run Het
Rilp T C 11: 75,401,712 (GRCm39) V164A probably damaging Het
Rnf39 A T 17: 37,257,971 (GRCm39) T168S probably damaging Het
Rptor C G 11: 119,763,181 (GRCm39) Q922E probably benign Het
Sall1 A T 8: 89,759,396 (GRCm39) L236Q probably damaging Het
Skint7 A G 4: 111,845,324 (GRCm39) T379A probably benign Het
Spata22 C A 11: 73,236,702 (GRCm39) T336N probably damaging Het
Spata31 T C 13: 65,068,547 (GRCm39) S232P probably benign Het
Spink5 T A 18: 44,110,722 (GRCm39) C98S possibly damaging Het
Stard6 T C 18: 70,633,506 (GRCm39) V171A possibly damaging Het
Tex9 A T 9: 72,388,072 (GRCm39) probably null Het
Traf7 T C 17: 24,728,519 (GRCm39) D621G probably damaging Het
Trak1 C T 9: 121,277,973 (GRCm39) T353M possibly damaging Het
Trim68 A T 7: 102,327,569 (GRCm39) Y461* probably null Het
Usp1 A G 4: 98,814,688 (GRCm39) probably benign Het
Vmn2r42 T A 7: 8,195,641 (GRCm39) I502F probably benign Het
Wbp4 C A 14: 79,714,261 (GRCm39) G84C probably damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp787 A G 7: 6,135,106 (GRCm39) *382Q probably null Het
Zfp831 G T 2: 174,487,002 (GRCm39) C559F possibly damaging Het
Zgpat G C 2: 181,007,882 (GRCm39) A140P probably benign Het
Zscan4e T A 7: 11,041,002 (GRCm39) Y290F probably benign 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
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
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'- ATGGCCTCTGGTCCCACAG -3'
(R):5'- CAATGTGGTTAATACGGACTCTG -3'

Sequencing Primer
(F):5'- CACAGCTCAGTGATCTGGATG -3'
(R):5'- GTTAATACGGACTCTGACACAGCTG -3'
Posted On 2019-09-13