Incidental Mutation 'IGL02012:Eif1ad'
ID 183382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif1ad
Ensembl Gene ENSMUSG00000024841
Gene Name eukaryotic translation initiation factor 1A domain containing
Synonyms 2010003J03Rik, Eif1ad1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02012
Quality Score
Status
Chromosome 19
Chromosomal Location 5416841-5421546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 5418687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 80 (V80G)
Ref Sequence ENSEMBL: ENSMUSP00000025759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025759] [ENSMUST00000025762] [ENSMUST00000170010]
AlphaFold Q3THJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000025759
AA Change: V80G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025759
Gene: ENSMUSG00000024841
AA Change: V80G

DomainStartEndE-ValueType
eIF1a 20 103 1.03e-40 SMART
low complexity region 131 142 N/A INTRINSIC
low complexity region 154 168 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000025762
SMART Domains Protein: ENSMUSP00000025762
Gene: ENSMUSG00000024844

DomainStartEndE-ValueType
BAF 1 88 3.68e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170010
SMART Domains Protein: ENSMUSP00000126202
Gene: ENSMUSG00000024844

DomainStartEndE-ValueType
BAF 1 88 3.68e-59 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,651,820 (GRCm39) N1296S probably damaging Het
Adprh A T 16: 38,266,214 (GRCm39) D309E possibly damaging Het
Armc1 A T 3: 19,211,701 (GRCm39) C40S possibly damaging Het
Cops8 T C 1: 90,539,956 (GRCm39) V204A probably damaging Het
Cstdc5 T G 16: 36,187,802 (GRCm39) D21A possibly damaging Het
Dchs1 T G 7: 105,413,504 (GRCm39) T1104P probably damaging Het
Ddi2 A T 4: 141,435,529 (GRCm39) probably null Het
Ehbp1 G A 11: 22,051,218 (GRCm39) P420S probably damaging Het
Fat1 T C 8: 45,480,577 (GRCm39) Y3004H possibly damaging Het
Fbxo11 C T 17: 88,320,079 (GRCm39) R211Q probably benign Het
Foxf2 A G 13: 31,810,499 (GRCm39) N146S probably damaging Het
Fsd2 A T 7: 81,199,662 (GRCm39) N334K probably benign Het
Gm45234 C A 6: 124,723,011 (GRCm39) probably benign Het
Itpr3 T A 17: 27,323,069 (GRCm39) F1157I probably benign Het
Jph1 C A 1: 17,167,638 (GRCm39) W64L probably benign Het
Lmo7 T C 14: 102,126,152 (GRCm39) probably benign Het
Man2a1 T C 17: 64,973,894 (GRCm39) I390T probably damaging Het
Marveld3 C T 8: 110,674,764 (GRCm39) V351M probably damaging Het
Minar1 T C 9: 89,483,491 (GRCm39) I635M probably benign Het
Mycn A G 12: 12,987,104 (GRCm39) L431P probably damaging Het
Naip5 T C 13: 100,359,847 (GRCm39) N463S probably benign Het
Npnt A G 3: 132,614,158 (GRCm39) C182R probably damaging Het
Obscn A G 11: 58,967,333 (GRCm39) V3068A probably benign Het
Pggt1b A T 18: 46,396,022 (GRCm39) S88T probably benign Het
Prx A G 7: 27,217,326 (GRCm39) E748G probably damaging Het
Scrn3 T C 2: 73,148,773 (GRCm39) probably null Het
Trmt10b G A 4: 45,315,045 (GRCm39) R292H probably benign Het
Tuft1 A G 3: 94,529,462 (GRCm39) probably benign Het
Wfdc8 T C 2: 164,445,070 (GRCm39) probably benign Het
Other mutations in Eif1ad
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Eif1ad APN 19 5,418,212 (GRCm39) unclassified probably benign
IGL02541:Eif1ad APN 19 5,418,445 (GRCm39) unclassified probably benign
R0699:Eif1ad UTSW 19 5,418,726 (GRCm39) missense possibly damaging 0.92
R1238:Eif1ad UTSW 19 5,420,111 (GRCm39) makesense probably null
R1921:Eif1ad UTSW 19 5,420,086 (GRCm39) unclassified probably benign
R2242:Eif1ad UTSW 19 5,420,086 (GRCm39) unclassified probably benign
R3401:Eif1ad UTSW 19 5,418,276 (GRCm39) missense probably benign 0.02
R4671:Eif1ad UTSW 19 5,418,219 (GRCm39) start codon destroyed probably null 1.00
R7667:Eif1ad UTSW 19 5,418,243 (GRCm39) missense probably damaging 1.00
R9010:Eif1ad UTSW 19 5,418,726 (GRCm39) missense possibly damaging 0.92
Posted On 2014-05-07