Incidental Mutation 'R6596:Eif1ad15'
ID 526000
Institutional Source Beutler Lab
Gene Symbol Eif1ad15
Ensembl Gene ENSMUSG00000093847
Gene Name eukaryotic translation initiation factor 1A domain containing 15
Synonyms Gm5039
MMRRC Submission 044720-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.411) question?
Stock # R6596 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 88286892-88288532 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88288057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 65 (L65F)
Ref Sequence ENSEMBL: ENSMUSP00000151971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177747] [ENSMUST00000218054]
AlphaFold J3QNT6
Predicted Effect possibly damaging
Transcript: ENSMUST00000177747
AA Change: L65F

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136949
Gene: ENSMUSG00000093847
AA Change: L65F

DomainStartEndE-ValueType
low complexity region 3 25 N/A INTRINSIC
eIF1a 28 110 4.9e-47 SMART
low complexity region 125 144 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000218054
AA Change: L65F

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222722
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik T A 9: 101,819,984 (GRCm39) C135S possibly damaging Het
Bag4 C T 8: 26,259,528 (GRCm39) D224N probably damaging Het
Cldn15 T A 5: 137,003,533 (GRCm39) C178* probably null Het
Col7a1 C A 9: 108,783,409 (GRCm39) probably benign Het
Crnn G A 3: 93,054,182 (GRCm39) E22K probably damaging Het
Dcstamp A C 15: 39,617,605 (GRCm39) T5P possibly damaging Het
Dennd4a A G 9: 64,759,702 (GRCm39) Y269C probably damaging Het
Dsg1c T A 18: 20,403,581 (GRCm39) probably null Het
Duox2 C T 2: 122,115,819 (GRCm39) V972I probably benign Het
Ephb1 A C 9: 102,072,001 (GRCm39) Y259* probably null Het
Fam149a G T 8: 45,834,667 (GRCm39) T44K probably benign Het
Fn1 A G 1: 71,648,641 (GRCm39) Y1423H probably damaging Het
Garem1 T A 18: 21,281,796 (GRCm39) I187F probably damaging Het
Gfm2 C T 13: 97,301,657 (GRCm39) P487S probably damaging Het
Hyou1 A G 9: 44,299,052 (GRCm39) E625G probably benign Het
Kmt5a G A 5: 124,588,759 (GRCm39) V121M probably benign Het
Mindy4 T C 6: 55,201,001 (GRCm39) S229P probably damaging Het
Muc16 T C 9: 18,478,011 (GRCm39) D7098G probably benign Het
Nsf A T 11: 103,801,283 (GRCm39) I244N probably damaging Het
Obox1 C T 7: 15,289,301 (GRCm39) S72L probably damaging Het
Or4b1 T A 2: 89,979,622 (GRCm39) T243S possibly damaging Het
Or5d38 C T 2: 87,954,543 (GRCm39) C262Y probably damaging Het
Pcdhb7 A T 18: 37,476,414 (GRCm39) I517F probably damaging Het
Plk2 C T 13: 110,534,296 (GRCm39) A292V probably benign Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Rasgrf1 A T 9: 89,894,847 (GRCm39) N1089I possibly damaging Het
Robo2 T A 16: 73,767,996 (GRCm39) N603Y probably damaging Het
Slc35f4 G A 14: 49,763,057 (GRCm39) A5V probably damaging Het
Smc4 A T 3: 68,933,226 (GRCm39) I616F probably damaging Het
Sorl1 T G 9: 41,912,899 (GRCm39) N1361H possibly damaging Het
Syngr1 C T 15: 79,995,893 (GRCm39) T144M probably damaging Het
Tbc1d16 A C 11: 119,048,601 (GRCm39) W351G probably damaging Het
Tbx15 A G 3: 99,259,508 (GRCm39) S460G probably benign Het
Tns2 G A 15: 102,018,994 (GRCm39) R395Q probably benign Het
Tpte T C 8: 22,823,285 (GRCm39) L304P probably damaging Het
Tubgcp5 T A 7: 55,456,382 (GRCm39) F325I probably benign Het
Ucp3 A T 7: 100,131,140 (GRCm39) I198F probably benign Het
Vit T C 17: 78,930,274 (GRCm39) V413A probably benign Het
Xrcc6 T C 15: 81,907,155 (GRCm39) M1T probably null Het
Other mutations in Eif1ad15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Eif1ad15 APN 12 88,287,858 (GRCm39) missense unknown
IGL02184:Eif1ad15 APN 12 88,287,951 (GRCm39) missense probably benign 0.13
R2029:Eif1ad15 UTSW 12 88,288,191 (GRCm39) missense unknown
R2943:Eif1ad15 UTSW 12 88,288,004 (GRCm39) missense probably benign 0.04
R5022:Eif1ad15 UTSW 12 88,288,071 (GRCm39) missense probably benign 0.08
R5054:Eif1ad15 UTSW 12 88,288,071 (GRCm39) missense probably benign 0.08
R5988:Eif1ad15 UTSW 12 88,288,202 (GRCm39) missense unknown
R6275:Eif1ad15 UTSW 12 88,287,995 (GRCm39) missense possibly damaging 0.95
R6863:Eif1ad15 UTSW 12 88,287,968 (GRCm39) missense probably damaging 1.00
R8550:Eif1ad15 UTSW 12 88,290,652 (GRCm39) start gained probably benign
R8993:Eif1ad15 UTSW 12 88,288,170 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACCAAATGTGTCCGTTTCATTG -3'
(R):5'- TAGTAGCTCTTGGAACTGAGTCAC -3'

Sequencing Primer
(F):5'- CAAATGTGTCCGTTTCATTGATTTTG -3'
(R):5'- TGAGTCACAGCCACTGTCAG -3'
Posted On 2018-06-22