Incidental Mutation 'R3744:Igkv5-45'
Institutional Source Beutler Lab
Gene Symbol Igkv5-45
Ensembl Gene ENSMUSG00000094094
Gene Nameimmunoglobulin kappa chain variable 5-45
MMRRC Submission 040730-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.386) question?
Stock #R3744 (G1)
Quality Score225
Status Not validated
Chromosomal Location69775750-69776306 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 69775937 bp
Amino Acid Change Histidine to Tyrosine at position 54 (H54Y)
Ref Sequence ENSEMBL: ENSMUSP00000100167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103366]
Predicted Effect probably benign
Transcript: ENSMUST00000103366
AA Change: H54Y

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000100167
Gene: ENSMUSG00000094094
AA Change: H54Y

IGv 38 110 3.76e-17 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T C 17: 31,111,216 probably benign Het
Aox4 C T 1: 58,245,870 H594Y probably damaging Het
Aspn G A 13: 49,566,560 E351K probably damaging Het
BC004004 A G 17: 29,301,449 *349W probably null Het
Elmo2 C T 2: 165,316,002 D39N probably damaging Het
Fam161a T C 11: 23,020,410 F196S probably damaging Het
Fam186a A G 15: 99,947,535 V276A unknown Het
Fn3krp T C 11: 121,426,705 probably null Het
Gnai3 T C 3: 108,109,398 probably benign Het
Hspg2 C T 4: 137,565,504 probably benign Het
Kif26b A G 1: 178,679,030 I224V probably benign Het
Lyg1 T C 1: 37,949,842 Y99C probably benign Het
Myh4 C T 11: 67,255,315 R1400C probably damaging Het
Nf1 T C 11: 79,548,747 S2262P probably benign Het
Pop5 T C 5: 115,240,508 Y117H possibly damaging Het
Prpf8 T A 11: 75,506,721 probably null Het
Ptch1 T G 13: 63,524,959 E944A probably benign Het
Rapgef6 T C 11: 54,625,934 F54S probably benign Het
Sptb T C 12: 76,600,400 T1954A probably benign Het
Ssbp2 T C 13: 91,680,646 probably benign Het
Tap1 A T 17: 34,193,612 D541V probably damaging Het
Tcte1 A G 17: 45,539,671 D291G probably damaging Het
Tpbg A G 9: 85,845,162 R395G probably damaging Het
Trappc10 T A 10: 78,199,090 S941C probably benign Het
Usp19 G A 9: 108,500,181 R886Q probably damaging Het
Utp14b G T 1: 78,665,256 E290D probably benign Het
Vmn1r30 A T 6: 58,435,819 Y9* probably null Het
Vmn2r97 A G 17: 18,929,628 H426R probably benign Het
Vwa3a A G 7: 120,752,594 D27G probably benign Het
Zfp36 A G 7: 28,377,776 S236P probably benign Het
Zfp616 C A 11: 74,083,987 H452N probably benign Het
Other mutations in Igkv5-45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01898:Igkv5-45 APN 6 69775892 nonsense probably null
IGL02010:Igkv5-45 APN 6 69775952 missense probably benign
R3547:Igkv5-45 UTSW 6 69776256 critical splice donor site probably benign
R6196:Igkv5-45 UTSW 6 69775981 missense possibly damaging 0.52
Predicted Primers
Posted On2017-04-14