Incidental Mutation 'R3108:Igkv11-125'
ID477835
Institutional Source Beutler Lab
Gene Symbol Igkv11-125
Ensembl Gene ENSMUSG00000095737
Gene Nameimmunoglobulin kappa variable 11-125
SynonymsENSMUSG00000050218
MMRRC Submission 040582-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #R3108 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location67913573-67914052 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 67913871 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 58 (F58L)
Ref Sequence ENSEMBL: ENSMUSP00000142805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103311] [ENSMUST00000197406]
Predicted Effect probably benign
Transcript: ENSMUST00000103311
AA Change: F57L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000100112
Gene: ENSMUSG00000095737
AA Change: F57L

DomainStartEndE-ValueType
IGv 39 111 2.26e-20 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000197406
AA Change: F58L

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142805
Gene: ENSMUSG00000095737
AA Change: F58L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGv 40 112 9.2e-23 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 C T 7: 79,323,585 S104L probably benign Het
Adcy1 A G 11: 7,169,453 Y1032C probably damaging Het
Ap4e1 T C 2: 127,056,306 probably null Het
Ccnb1 C T 13: 100,781,624 probably null Het
Cfap54 T C 10: 92,994,683 N1197S probably benign Het
Cnot1 A G 8: 95,735,749 V1691A probably damaging Het
Dclk2 G A 3: 86,920,035 P46S probably damaging Het
Dennd4a A G 9: 64,912,387 K1760R probably benign Het
Drd4 T A 7: 141,292,282 V82E possibly damaging Het
Dtx2 G A 5: 136,021,816 V323M probably benign Het
Espl1 A G 15: 102,312,989 I944V probably damaging Het
Fat1 G A 8: 45,045,173 probably null Het
Mrgprb1 A G 7: 48,447,328 S279P possibly damaging Het
Muc5b C T 7: 141,858,759 T1814M unknown Het
Nkpd1 G A 7: 19,522,978 M227I probably damaging Het
Ntrk3 C T 7: 78,460,515 V324M probably benign Het
Nup155 C A 15: 8,117,306 T210K probably null Het
Olfr466 T C 13: 65,153,061 V279A possibly damaging Het
Olfr591 T A 7: 103,173,086 M184L probably damaging Het
Pak4 A T 7: 28,564,344 Y322* probably null Het
Raph1 G A 1: 60,493,386 A696V probably benign Het
Satb1 A T 17: 51,782,782 Y346N possibly damaging Het
Serpina1a A T 12: 103,853,841 I382N probably damaging Het
Slc34a3 G T 2: 25,229,245 Q538K probably benign Het
Slf1 C T 13: 77,126,721 probably benign Het
Ston1 G T 17: 88,636,155 E330* probably null Het
Trhde C T 10: 114,592,066 E442K probably damaging Het
Unc45a A G 7: 80,331,546 probably benign Het
Zfp169 A G 13: 48,489,996 S552P possibly damaging Het
Zfp229 T A 17: 21,746,816 C676S probably damaging Het
Other mutations in Igkv11-125
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02542:Igkv11-125 APN 6 67914007 missense probably damaging 0.99
R0532:Igkv11-125 UTSW 6 67913619 nonsense probably null
R3109:Igkv11-125 UTSW 6 67913871 missense possibly damaging 0.56
R8065:Igkv11-125 UTSW 6 67913830 missense probably benign 0.26
R8067:Igkv11-125 UTSW 6 67913830 missense probably benign 0.26
Predicted Primers
Posted On2017-05-15