Incidental Mutation 'R8153:Eif4a3l2'
ID 633135
Institutional Source Beutler Lab
Gene Symbol Eif4a3l2
Ensembl Gene ENSMUSG00000107906
Gene Name eukaryotic translation initiation factor 4A3 like 2
Synonyms Gm5580
MMRRC Submission 067579-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R8153 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 116528102-116529463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116528968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 282 (I282F)
Ref Sequence ENSEMBL: ENSMUSP00000145194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060204] [ENSMUST00000122096] [ENSMUST00000203867] [ENSMUST00000214699] [ENSMUST00000215846] [ENSMUST00000217313]
AlphaFold A0A0N4SVP8
Predicted Effect probably benign
Transcript: ENSMUST00000060204
SMART Domains Protein: ENSMUSP00000052730
Gene: ENSMUSG00000051046

DomainStartEndE-ValueType
Pfam:7tm_4 39 316 4.7e-47 PFAM
Pfam:7tm_1 49 298 5.9e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122096
AA Change: I282F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145194
Gene: ENSMUSG00000107906
AA Change: I282F

DomainStartEndE-ValueType
DEXDc 57 254 2.4e-59 SMART
HELICc 291 372 6.6e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203867
SMART Domains Protein: ENSMUSP00000145465
Gene: ENSMUSG00000051046

DomainStartEndE-ValueType
Pfam:7tm_4 39 316 4.7e-47 PFAM
Pfam:7tm_1 49 298 5.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214699
Predicted Effect probably benign
Transcript: ENSMUST00000215846
Predicted Effect probably benign
Transcript: ENSMUST00000217313
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,157 (GRCm39) S287T probably benign Het
Abca15 T C 7: 119,999,812 (GRCm39) S1429P probably damaging Het
Arfgef2 GTGTGCAGAAACT GT 2: 166,676,383 (GRCm39) 92 probably null Het
C1qb A G 4: 136,607,877 (GRCm39) V162A possibly damaging Het
Cachd1 G T 4: 100,845,835 (GRCm39) probably null Het
Cfap61 T C 2: 146,042,704 (GRCm39) I1159T probably benign Het
Csf1 T A 3: 107,656,020 (GRCm39) D337V probably damaging Het
Ddhd2 T A 8: 26,240,816 (GRCm39) T251S probably benign Het
Dnah5 A G 15: 28,384,576 (GRCm39) T3107A probably damaging Het
Dnph1 T C 17: 46,809,965 (GRCm39) V169A probably benign Het
Ebf2 T C 14: 67,627,914 (GRCm39) V303A probably damaging Het
Enpp3 A G 10: 24,685,777 (GRCm39) F206S probably damaging Het
Fam151b G T 13: 92,614,410 (GRCm39) T26K probably damaging Het
Fga T C 3: 82,938,164 (GRCm39) S180P probably damaging Het
Fpr-rs3 A G 17: 20,844,685 (GRCm39) L152P probably damaging Het
Gen1 C A 12: 11,310,948 (GRCm39) G95W probably damaging Het
Ggta1 T A 2: 35,313,333 (GRCm39) T3S possibly damaging Het
Gm4884 T A 7: 40,692,582 (GRCm39) C184S probably benign Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gsx2 T C 5: 75,237,716 (GRCm39) S223P probably damaging Het
Hnf4g C T 3: 3,699,250 (GRCm39) probably benign Het
Iqub A C 6: 24,450,789 (GRCm39) Y603* probably null Het
Klhl22 A G 16: 17,610,414 (GRCm39) N555S probably damaging Het
Lama5 T C 2: 179,829,724 (GRCm39) D1928G probably benign Het
Lamb2 C T 9: 108,357,845 (GRCm39) R123W probably damaging Het
Lamc2 CATCAGCTA CA 1: 152,999,850 (GRCm39) probably null Het
Lgr4 T A 2: 109,830,645 (GRCm39) F255I probably damaging Het
Lnx2 T C 5: 146,964,906 (GRCm39) N439S probably benign Het
Lztr1 G T 16: 17,336,439 (GRCm39) probably null Het
Mtcl3 G T 10: 29,024,235 (GRCm39) E384* probably null Het
Nfkb2 G T 19: 46,296,455 (GRCm39) R241L probably damaging Het
Nrcam T C 12: 44,631,755 (GRCm39) F1103L probably benign Het
Or2g1 A G 17: 38,106,367 (GRCm39) I11V probably benign Het
Or5k17 A G 16: 58,746,149 (GRCm39) S262P possibly damaging Het
Or8d2 A G 9: 38,759,631 (GRCm39) I74V possibly damaging Het
Or8g52 A G 9: 39,630,954 (GRCm39) M144V possibly damaging Het
Otof C A 5: 30,546,079 (GRCm39) A425S probably damaging Het
Parg T A 14: 31,984,777 (GRCm39) L774H probably damaging Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Pcnx4 T A 12: 72,603,017 (GRCm39) F426L probably benign Het
Pde5a T G 3: 122,646,225 (GRCm39) S805R probably benign Het
Pde5a T A 3: 122,646,227 (GRCm39) M806K probably damaging Het
Plekhh1 T C 12: 79,125,812 (GRCm39) S1283P probably benign Het
Ppp1r12a A G 10: 107,998,303 (GRCm39) K15E probably damaging Het
Prkdc A T 16: 15,482,108 (GRCm39) M384L probably damaging Het
Ptchd4 A G 17: 42,814,787 (GRCm39) D896G probably benign Het
Rsf1 GGC GGCTACGGCCGC 7: 97,229,113 (GRCm39) probably benign Het
Slmap T C 14: 26,254,488 (GRCm39) S65G probably benign Het
Snta1 C A 2: 154,222,722 (GRCm39) L298F probably damaging Het
Sphkap T G 1: 83,255,730 (GRCm39) N673T possibly damaging Het
St8sia5 T G 18: 77,340,807 (GRCm39) probably null Het
Tgm6 T C 2: 129,986,975 (GRCm39) V481A probably benign Het
Thada T C 17: 84,700,855 (GRCm39) N1217S possibly damaging Het
Tia1 C G 6: 86,397,314 (GRCm39) H107D probably damaging Het
Ttn A G 2: 76,746,956 (GRCm39) Y4698H probably benign Het
Ube3c T C 5: 29,811,929 (GRCm39) Y390H possibly damaging Het
Ubqln5 A G 7: 103,778,011 (GRCm39) I271T possibly damaging Het
Vmn2r109 A G 17: 20,784,969 (GRCm39) V17A probably benign Het
Xkr9 A G 1: 13,754,363 (GRCm39) D119G probably benign Het
Zfp236 C T 18: 82,648,152 (GRCm39) C1003Y probably damaging Het
Other mutations in Eif4a3l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7166:Eif4a3l2 UTSW 6 116,528,329 (GRCm39) missense probably benign 0.00
R7292:Eif4a3l2 UTSW 6 116,528,438 (GRCm39) missense probably damaging 0.98
R7331:Eif4a3l2 UTSW 6 116,529,130 (GRCm39) missense probably benign 0.00
R7903:Eif4a3l2 UTSW 6 116,528,212 (GRCm39) missense probably benign 0.00
R8103:Eif4a3l2 UTSW 6 116,528,468 (GRCm39) missense probably damaging 1.00
R8331:Eif4a3l2 UTSW 6 116,529,323 (GRCm39) missense probably damaging 0.98
R9269:Eif4a3l2 UTSW 6 116,529,317 (GRCm39) missense probably damaging 1.00
R9642:Eif4a3l2 UTSW 6 116,528,350 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTACAGGTATTTGCCACCAGC -3'
(R):5'- CAGACGTCTGTGGAGATGAG -3'

Sequencing Primer
(F):5'- GCCTCATGAGATCCTGGAGATGAC -3'
(R):5'- TCTGTGGAGATGAGCACCC -3'
Posted On 2020-06-30