Incidental Mutation 'IGL03063:Eif3j2'
ID409554
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif3j2
Ensembl Gene ENSMUSG00000043424
Gene Nameeukaryotic translation initiation factor 3, subunit J2
SynonymsGm9781
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.914) question?
Stock #IGL03063
Quality Score
Status
Chromosome18
Chromosomal Location43475418-43477796 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43477379 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 123 (L123P)
Ref Sequence ENSEMBL: ENSMUSP00000054421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057110]
Predicted Effect possibly damaging
Transcript: ENSMUST00000057110
AA Change: L123P

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000054421
Gene: ENSMUSG00000043424
AA Change: L123P

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:eIF3_subunit 16 263 7.7e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180600
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 46,016,432 V255I probably benign Het
Arfgef2 T C 2: 166,859,782 probably benign Het
Bpifb2 A T 2: 153,889,124 Q205L probably damaging Het
Ccdc30 C T 4: 119,349,767 R386Q possibly damaging Het
Cdk5rap2 T A 4: 70,354,877 probably null Het
Comtd1 A G 14: 21,847,667 probably null Het
Dao T C 5: 114,021,015 C261R probably damaging Het
Dner A G 1: 84,585,338 V187A possibly damaging Het
Dsg3 T C 18: 20,533,368 probably benign Het
Esf1 G A 2: 140,154,786 probably benign Het
Exo5 G A 4: 120,921,633 T345I possibly damaging Het
Fancl A T 11: 26,387,299 I29F probably damaging Het
Gadl1 C T 9: 115,966,267 H313Y probably damaging Het
Gm17190 G A 13: 96,082,762 probably benign Het
Gtf3c1 G T 7: 125,646,503 T1580N possibly damaging Het
Gtf3c6 T A 10: 40,251,159 I66L probably benign Het
Hhla1 A G 15: 65,941,790 I231T probably damaging Het
Hk2 A G 6: 82,739,649 Y273H probably damaging Het
Hk2 A G 6: 82,749,232 I83T probably benign Het
Ifit1 T C 19: 34,648,004 V180A possibly damaging Het
Igkv9-129 A T 6: 67,840,188 D92V probably damaging Het
Lrrc1 A G 9: 77,499,269 F36S probably damaging Het
Man1b1 A G 2: 25,334,404 E102G possibly damaging Het
Myh8 A G 11: 67,288,205 S475G probably benign Het
Olfr593 T A 7: 103,212,634 V247D probably damaging Het
Otud4 T A 8: 79,663,790 M343K probably benign Het
Peg10 A T 6: 4,756,647 probably benign Het
Plet1 T A 9: 50,504,422 N197K probably benign Het
Ppp1r12a C T 10: 108,261,254 R243C probably damaging Het
Serpinb10 A T 1: 107,542,227 K146N possibly damaging Het
Sis A G 3: 72,928,297 F911L probably benign Het
Spon1 G A 7: 114,033,025 V528M possibly damaging Het
Tdrd9 T C 12: 112,044,299 V1100A probably benign Het
Tmtc3 T C 10: 100,447,606 M696V probably benign Het
Triobp A G 15: 78,990,884 E122G probably damaging Het
Wt1 G A 2: 105,170,023 probably null Het
Other mutations in Eif3j2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02251:Eif3j2 APN 18 43477366 missense probably damaging 1.00
R0815:Eif3j2 UTSW 18 43476971 missense probably benign 0.02
R4744:Eif3j2 UTSW 18 43477717 small deletion probably benign
R5206:Eif3j2 UTSW 18 43477582 missense probably benign 0.00
R7142:Eif3j2 UTSW 18 43477400 missense probably damaging 0.99
R7228:Eif3j2 UTSW 18 43477509 missense probably damaging 1.00
R7736:Eif3j2 UTSW 18 43477317 missense possibly damaging 0.94
Posted On2016-08-02