Incidental Mutation 'R4463:Eif1ad11'
ID 330243
Institutional Source Beutler Lab
Gene Symbol Eif1ad11
Ensembl Gene ENSMUSG00000095717
Gene Name eukaryotic translation initiation factor 1A domain containing 11
Synonyms Gm2056
MMRRC Submission 041721-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4463 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 87993774-87994208 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87994129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 119 (D119G)
Ref Sequence ENSEMBL: ENSMUSP00000137563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178852]
AlphaFold J3QQ02
Predicted Effect probably benign
Transcript: ENSMUST00000178852
AA Change: D119G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000137563
Gene: ENSMUSG00000095717
AA Change: D119G

DomainStartEndE-ValueType
low complexity region 3 25 N/A INTRINSIC
eIF1a 28 110 5.09e-45 SMART
low complexity region 124 144 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222496
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,769,981 (GRCm39) probably benign Het
Abcc8 T C 7: 45,756,005 (GRCm39) probably null Het
Alox12e A G 11: 70,209,082 (GRCm39) L388P probably damaging Het
Aspm T A 1: 139,382,748 (GRCm39) S27T possibly damaging Het
Capn2 G A 1: 182,307,329 (GRCm39) probably benign Het
Catspere1 G A 1: 177,765,279 (GRCm39) noncoding transcript Het
Ccdc158 T C 5: 92,782,159 (GRCm39) D820G probably null Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Chd9 T A 8: 91,705,627 (GRCm39) D761E probably benign Het
Chst8 T C 7: 34,374,645 (GRCm39) D398G probably damaging Het
Clns1a T C 7: 97,370,156 (GRCm39) probably benign Het
Cyp3a57 A T 5: 145,318,084 (GRCm39) Y355F probably damaging Het
Cyp4f37 A G 17: 32,846,710 (GRCm39) probably null Het
Eipr1 G A 12: 28,909,338 (GRCm39) A202T probably damaging Het
Fam83a T C 15: 57,858,655 (GRCm39) S232P probably damaging Het
Fastkd2 C T 1: 63,774,968 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,850,144 (GRCm39) M1197V probably benign Het
Fgfr4 G A 13: 55,304,280 (GRCm39) V107I probably benign Het
Gatad1 G T 5: 3,697,404 (GRCm39) S72R probably benign Het
Gli2 T C 1: 118,763,738 (GRCm39) D1471G probably damaging Het
Gm1330 A T 2: 148,845,064 (GRCm39) Y36* probably null Het
Gm29125 T C 1: 80,360,903 (GRCm39) noncoding transcript Het
Idi1 G A 13: 8,937,508 (GRCm39) probably benign Het
Itgbl1 C T 14: 124,078,080 (GRCm39) T190I probably damaging Het
Kbtbd3 G A 9: 4,331,257 (GRCm39) G544R probably damaging Het
Kifc3 T C 8: 95,828,744 (GRCm39) T638A probably damaging Het
Lama1 G A 17: 68,068,695 (GRCm39) C798Y probably damaging Het
Larp6 C A 9: 60,644,279 (GRCm39) H140N probably damaging Het
Mctp1 A T 13: 76,860,206 (GRCm39) D108V probably damaging Het
Myzap G T 9: 71,462,933 (GRCm39) D204E probably benign Het
Neb GCC GC 2: 52,169,734 (GRCm39) probably null Het
Or13p8 T C 4: 118,583,855 (GRCm39) V137A probably benign Het
Or1j20 T C 2: 36,760,205 (GRCm39) I209T probably benign Het
Or4c102 T C 2: 88,422,976 (GRCm39) V276A possibly damaging Het
Phka1 A G X: 101,588,990 (GRCm39) V818A probably benign Het
Plek T C 11: 16,931,873 (GRCm39) Y326C possibly damaging Het
Pp2d1 A G 17: 53,822,886 (GRCm39) I60T probably benign Het
Prmt3 T C 7: 49,467,837 (GRCm39) Y348H probably damaging Het
Psg27 G T 7: 18,291,010 (GRCm39) Q398K possibly damaging Het
Raver1 T C 9: 21,003,123 (GRCm39) T51A probably benign Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Sectm1a T A 11: 120,960,477 (GRCm39) I113L probably benign Het
Slc2a4 G A 11: 69,834,148 (GRCm39) probably benign Het
Snph A T 2: 151,436,035 (GRCm39) S229T probably damaging Het
Stpg4 A G 17: 87,697,101 (GRCm39) F183L probably benign Het
Tango6 A T 8: 107,415,706 (GRCm39) T176S probably benign Het
Vmn1r196 A G 13: 22,477,853 (GRCm39) Q164R probably benign Het
Vstm4 T A 14: 32,639,833 (GRCm39) L236Q probably damaging Het
Xylb A G 9: 119,215,433 (GRCm39) D462G probably benign Het
Zc2hc1c A G 12: 85,337,071 (GRCm39) R243G probably damaging Het
Other mutations in Eif1ad11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02293:Eif1ad11 APN 12 87,994,033 (GRCm39) missense probably benign 0.00
R1652:Eif1ad11 UTSW 12 87,993,853 (GRCm39) missense probably benign 0.00
R4820:Eif1ad11 UTSW 12 87,994,158 (GRCm39) missense unknown
R6575:Eif1ad11 UTSW 12 87,994,117 (GRCm39) missense probably damaging 0.97
R9152:Eif1ad11 UTSW 12 87,993,946 (GRCm39) missense probably damaging 1.00
R9165:Eif1ad11 UTSW 12 87,994,077 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- ATGTGGACGGTTGGAATCAATG -3'
(R):5'- AGCCACATGCATGCCAAATG -3'

Sequencing Primer
(F):5'- CTGTGCCACATAAGAGGAAAGTTG -3'
(R):5'- CACATGCATGCCAAATGAAGATTTAC -3'
Posted On 2015-07-21