Incidental Mutation 'R8065:Igkv11-125'
ID 619945
Institutional Source Beutler Lab
Gene Symbol Igkv11-125
Ensembl Gene ENSMUSG00000095737
Gene Name immunoglobulin kappa variable 11-125
Synonyms ENSMUSG00000050218
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock # R8065 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 67913573-67914052 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 67913830 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 44 (T44N)
Ref Sequence ENSEMBL: ENSMUSP00000142805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103311] [ENSMUST00000197406]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000103311
AA Change: T43N

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100112
Gene: ENSMUSG00000095737
AA Change: T43N

DomainStartEndE-ValueType
IGv 39 111 2.26e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197406
AA Change: T44N

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142805
Gene: ENSMUSG00000095737
AA Change: T44N

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGv 40 112 9.2e-23 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cap2 T C 13: 46,637,861 V280A probably damaging Het
Cbx7 A T 15: 79,933,898 V1D unknown Het
Chodl A T 16: 78,946,713 L229F probably damaging Het
Depdc5 C A 5: 32,895,908 N197K possibly damaging Het
Diaph3 A T 14: 87,037,495 L175Q probably damaging Het
Dlat A T 9: 50,657,849 M218K possibly damaging Het
Dnaic1 T A 4: 41,614,258 D311E probably damaging Het
Dpp10 A G 1: 123,352,660 S646P probably benign Het
Ebf1 G A 11: 44,620,547 V90M probably benign Het
Efhd1 C T 1: 87,264,591 P48S probably benign Het
Fbxl16 G A 17: 25,817,983 V313I probably damaging Het
Flrt2 A G 12: 95,780,774 T629A probably benign Het
Gpr87 T A 3: 59,179,887 I66F probably damaging Het
Hmmr G A 11: 40,721,672 S206F probably damaging Het
Hsd17b4 A T 18: 50,170,752 I431F possibly damaging Het
Iba57 T C 11: 59,163,260 probably benign Het
Ibtk A C 9: 85,720,863 S696R probably benign Het
Itih2 T A 2: 10,123,483 I136F probably damaging Het
Itpr3 T A 17: 27,110,862 D1543E probably benign Het
Ldlr T A 9: 21,737,945 C339S probably damaging Het
Myh2 G A 11: 67,181,344 E633K probably null Het
Myl10 G C 5: 136,697,971 V70L probably benign Het
Mylk A T 16: 34,972,019 E1570V probably benign Het
Myo15b G A 11: 115,887,943 probably null Het
N4bp2 T A 5: 65,807,296 L896H probably damaging Het
Naip2 A T 13: 100,189,222 S59R probably damaging Het
Ndc1 T A 4: 107,390,398 S468T probably benign Het
Ndst3 T C 3: 123,601,445 N512S probably damaging Het
Olfr1138 T A 2: 87,737,803 I174F probably damaging Het
Olfr65 A G 7: 103,906,403 probably benign Het
Plekhn1 T C 4: 156,228,240 I54V possibly damaging Het
Polr3c T C 3: 96,715,652 E350G probably null Het
Pskh1 T G 8: 105,929,855 S388A possibly damaging Het
Pum1 T C 4: 130,751,525 V486A possibly damaging Het
Rin2 T G 2: 145,861,057 S558A probably damaging Het
Ripk4 A T 16: 97,763,537 V58D probably damaging Het
Slc17a3 A G 13: 23,858,087 R491G unknown Het
Smyd3 A G 1: 179,410,463 M113T possibly damaging Het
Ssh2 A G 11: 77,441,985 R431G probably damaging Het
Timm22 G A 11: 76,414,105 D190N probably damaging Het
Ube2g1 G A 11: 72,677,765 G103D probably benign Het
Zbtb5 A T 4: 44,994,972 S137R probably benign Het
Zfp105 A G 9: 122,925,129 T8A probably benign Het
Zfp286 A T 11: 62,753,519 I192K unknown Het
Zfp942 T C 17: 21,930,410 Y38C probably damaging Het
Zfpm1 T C 8: 122,335,584 S461P probably benign 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
R3108:Igkv11-125 UTSW 6 67913871 missense possibly damaging 0.56
R3109:Igkv11-125 UTSW 6 67913871 missense possibly damaging 0.56
R8067:Igkv11-125 UTSW 6 67913830 missense probably benign 0.26
R9640:Igkv11-125 UTSW 6 67913799 missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- TCAGAATGAACACGAGGGCC -3'
(R):5'- AGCCAAGCCTCTCACTTCTG -3'

Sequencing Primer
(F):5'- CCCTGCTGAGTTCCTTGGG -3'
(R):5'- TGCTGTAGACAGAAATAAGTTGCC -3'
Posted On 2020-01-23