Incidental Mutation 'IGL02012:Eif1ad'
ID183382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif1ad
Ensembl Gene ENSMUSG00000024841
Gene Nameeukaryotic translation initiation factor 1A domain containing
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.842) question?
Stock #IGL02012
Quality Score
Status
Chromosome19
Chromosomal Location5366813-5371511 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 5368659 bp
ZygosityHeterozygous
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]
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: 121,674,861 N1296S probably damaging Het
Adprh A T 16: 38,445,852 D309E possibly damaging Het
AF529169 T C 9: 89,601,438 I635M probably benign Het
Armc1 A T 3: 19,157,537 C40S possibly damaging Het
BC100530 T G 16: 36,367,440 D21A possibly damaging Het
Cops8 T C 1: 90,612,234 V204A probably damaging Het
Dchs1 T G 7: 105,764,297 T1104P probably damaging Het
Ddi2 A T 4: 141,708,218 probably null Het
Ehbp1 G A 11: 22,101,218 P420S probably damaging Het
Fat1 T C 8: 45,027,540 Y3004H possibly damaging Het
Fbxo11 C T 17: 88,012,651 R211Q probably benign Het
Foxf2 A G 13: 31,626,516 N146S probably damaging Het
Fsd2 A T 7: 81,549,914 N334K probably benign Het
Gm45234 C A 6: 124,746,048 probably benign Het
Itpr3 T A 17: 27,104,095 F1157I probably benign Het
Jph1 C A 1: 17,097,414 W64L probably benign Het
Lmo7 T C 14: 101,888,716 probably benign Het
Man2a1 T C 17: 64,666,899 I390T probably damaging Het
Marveld3 C T 8: 109,948,132 V351M probably damaging Het
Mycn A G 12: 12,937,103 L431P probably damaging Het
Naip5 T C 13: 100,223,339 N463S probably benign Het
Npnt A G 3: 132,908,397 C182R probably damaging Het
Obscn A G 11: 59,076,507 V3068A probably benign Het
Pggt1b A T 18: 46,262,955 S88T probably benign Het
Prx A G 7: 27,517,901 E748G probably damaging Het
Scrn3 T C 2: 73,318,429 probably null Het
Trmt10b G A 4: 45,315,045 R292H probably benign Het
Tuft1 A G 3: 94,622,155 probably benign Het
Wfdc8 T C 2: 164,603,150 probably benign Het
Other mutations in Eif1ad
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Eif1ad APN 19 5368184 unclassified probably benign
IGL02541:Eif1ad APN 19 5368417 unclassified probably benign
R0699:Eif1ad UTSW 19 5368698 missense possibly damaging 0.92
R1238:Eif1ad UTSW 19 5370083 makesense probably null
R1921:Eif1ad UTSW 19 5370058 unclassified probably benign
R2242:Eif1ad UTSW 19 5370058 unclassified probably benign
R3401:Eif1ad UTSW 19 5368248 missense probably benign 0.02
R4671:Eif1ad UTSW 19 5368191 start codon destroyed probably null 1.00
Posted On2014-05-07