Incidental Mutation 'R2895:Igkv1-135'
ID 477129
Institutional Source Beutler Lab
Gene Symbol Igkv1-135
Ensembl Gene ENSMUSG00000096336
Gene Name immunoglobulin kappa variable 1-135
Synonyms Igkv1-135
MMRRC Submission 040483-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2895 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 67586729-67587492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67587332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 68 (S68T)
Ref Sequence ENSEMBL: ENSMUSP00000100104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103303]
AlphaFold A0A0B4J1H7
Predicted Effect probably benign
Transcript: ENSMUST00000103303
AA Change: S68T

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000100104
Gene: ENSMUSG00000096336
AA Change: S68T

DomainStartEndE-ValueType
IGv 38 115 6.01e-16 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,093,252 (GRCm39) V1007A probably benign Het
Abhd14b C T 9: 106,327,313 (GRCm39) R32C probably benign Het
Akirin1 T C 4: 123,631,864 (GRCm39) E168G probably damaging Het
Apol7e A T 15: 77,598,667 (GRCm39) D44V possibly damaging Het
Asic1 A G 15: 99,594,483 (GRCm39) I310V probably benign Het
Atp6v0a1 A G 11: 100,935,424 (GRCm39) H661R probably benign Het
Caskin1 A G 17: 24,708,016 (GRCm39) R25G probably damaging Het
Cd96 G T 16: 45,938,168 (GRCm39) T99K probably benign Het
Cep250 C A 2: 155,834,042 (GRCm39) A1989D probably benign Het
Clasp1 T G 1: 118,387,568 (GRCm39) V78G probably damaging Het
Cmklr2 T A 1: 63,222,321 (GRCm39) I305L probably benign Het
Col15a1 T C 4: 47,312,091 (GRCm39) V1302A possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cyb5r4 C T 9: 86,922,452 (GRCm39) Q154* probably null Het
Dnah7b T C 1: 46,178,901 (GRCm39) F858S probably damaging Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
H3f3a C T 1: 180,630,703 (GRCm39) R117H probably benign Het
Kmt2d G A 15: 98,741,820 (GRCm39) probably benign Het
Lonp1 A G 17: 56,922,562 (GRCm39) L688P probably damaging Het
Lpar6 A G 14: 73,476,716 (GRCm39) K226E probably damaging Het
Map3k19 T C 1: 127,749,835 (GRCm39) D968G possibly damaging Het
Med16 G A 10: 79,739,005 (GRCm39) probably null Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mrps7 A G 11: 115,495,865 (GRCm39) M98V probably benign Het
Ms4a14 A T 19: 11,281,595 (GRCm39) I321N possibly damaging Het
Muc5ac A G 7: 141,344,877 (GRCm39) D116G possibly damaging Het
Neu1 A G 17: 35,151,758 (GRCm39) D184G probably benign Het
Nolc1 CCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,069,791 (GRCm39) probably benign Het
Or11h23 T C 14: 50,947,973 (GRCm39) F62S probably damaging Het
Pcdh19 CTGTCTCCTCCA C X: 132,582,057 (GRCm39) probably null Het
Pcdh19 TGTCTCCTCCACGTC TGTC X: 132,582,058 (GRCm39) probably null Het
Plcz1 A G 6: 139,968,877 (GRCm39) I187T possibly damaging Het
Pot1b A T 17: 55,994,939 (GRCm39) I241N probably damaging Het
Ppp4r3c1 A G X: 88,976,005 (GRCm39) M64T possibly damaging Het
Ptpre G A 7: 135,245,587 (GRCm39) W11* probably null Het
Rgsl1 T A 1: 153,703,294 (GRCm39) E154V probably damaging Het
Rnasel T C 1: 153,636,522 (GRCm39) I634T probably damaging Het
Scn10a A T 9: 119,490,467 (GRCm39) S492T probably benign Het
Sec24d T A 3: 123,136,800 (GRCm39) V511E probably damaging Het
Slc7a1 A G 5: 148,277,402 (GRCm39) I371T probably benign Het
Smg1 A G 7: 117,788,366 (GRCm39) probably benign Het
Sntg2 A T 12: 30,276,845 (GRCm39) S402R probably benign Het
Stfa3 C A 16: 36,272,522 (GRCm39) L59F probably benign Het
Tlr3 T C 8: 45,850,629 (GRCm39) E756G possibly damaging Het
Ttll4 T A 1: 74,724,517 (GRCm39) H562Q possibly damaging Het
Other mutations in Igkv1-135
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02570:Igkv1-135 APN 6 67,586,732 (GRCm39) missense probably benign
R5520:Igkv1-135 UTSW 6 67,587,324 (GRCm39) missense possibly damaging 0.95
R5955:Igkv1-135 UTSW 6 67,587,263 (GRCm39) missense possibly damaging 0.62
R7233:Igkv1-135 UTSW 6 67,587,332 (GRCm39) missense probably benign 0.16
R8378:Igkv1-135 UTSW 6 67,587,378 (GRCm39) missense possibly damaging 0.70
R8757:Igkv1-135 UTSW 6 67,587,470 (GRCm39) missense possibly damaging 0.61
Predicted Primers
Posted On 2017-05-15