Incidental Mutation 'R8517:Igkv5-39'
ID 656205
Institutional Source Beutler Lab
Gene Symbol Igkv5-39
Ensembl Gene ENSMUSG00000076569
Gene Name immunoglobulin kappa variable 5-39
Synonyms LOC384415
MMRRC Submission 067849-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R8517 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 69877408-69877961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 69877553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 68 (I68L)
Ref Sequence ENSEMBL: ENSMUSP00000142521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103370] [ENSMUST00000197290]
AlphaFold A0A075B5M7
Predicted Effect possibly damaging
Transcript: ENSMUST00000103370
AA Change: I48L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100171
Gene: ENSMUSG00000076569
AA Change: I48L

DomainStartEndE-ValueType
IGv 18 90 7.51e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000197290
AA Change: I68L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142521
Gene: ENSMUSG00000076569
AA Change: I68L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 110 3e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,861,206 (GRCm39) D131E probably damaging Het
Abca17 C A 17: 24,536,207 (GRCm39) V487F probably benign Het
Anapc5 T C 5: 122,959,093 (GRCm39) S41G probably benign Het
Aoc1 C T 6: 48,883,644 (GRCm39) Q507* probably null Het
Ccdc171 G A 4: 83,661,298 (GRCm39) R1136H probably damaging Het
Clspn A G 4: 126,460,012 (GRCm39) D413G probably benign Het
Copz2 A G 11: 96,744,309 (GRCm39) K74E possibly damaging Het
Cpsf4l C A 11: 113,599,651 (GRCm39) A45S probably benign Het
Cr2 T C 1: 194,838,207 (GRCm39) I710V probably benign Het
Csmd2 G A 4: 128,446,479 (GRCm39) R3348Q Het
Dchs2 A G 3: 83,178,419 (GRCm39) I1157M probably damaging Het
Dcst1 A G 3: 89,272,455 (GRCm39) F3L probably benign Het
Dennd5b A C 6: 148,930,619 (GRCm39) C743G probably damaging Het
Dnah6 T C 6: 73,155,440 (GRCm39) E725G probably benign Het
Dnajc3 G T 14: 119,190,589 (GRCm39) G51* probably null Het
Dyrk2 T C 10: 118,696,926 (GRCm39) T111A probably benign Het
F5 T A 1: 164,003,822 (GRCm39) F206I probably damaging Het
Fam217b T A 2: 178,062,565 (GRCm39) S176R probably benign Het
Farsb A T 1: 78,439,933 (GRCm39) L313* probably null Het
Fbh1 A G 2: 11,782,241 (GRCm39) probably null Het
Fgd4 G A 16: 16,240,509 (GRCm39) T740I probably benign Het
Gprc6a G T 10: 51,507,337 (GRCm39) A64D probably benign Het
Gtf3c1 A T 7: 125,253,723 (GRCm39) V1365E probably damaging Het
Hdc C G 2: 126,439,890 (GRCm39) probably null Het
Kcnh2 A T 5: 24,531,636 (GRCm39) V425D probably damaging Het
Kcnj12 T C 11: 60,960,199 (GRCm39) S166P probably benign Het
Krtap16-1 A T 11: 99,876,524 (GRCm39) C293* probably null Het
Map7 T C 10: 20,137,581 (GRCm39) V251A probably damaging Het
Myo7b G T 18: 32,100,244 (GRCm39) L1597M possibly damaging Het
Nmu T C 5: 76,493,326 (GRCm39) E82G possibly damaging Het
Nup85 T C 11: 115,455,390 (GRCm39) probably null Het
Nwd2 A G 5: 63,948,925 (GRCm39) N166D probably damaging Het
Or52n2b T A 7: 104,565,681 (GRCm39) H274L possibly damaging Het
Pbrm1 C A 14: 30,789,739 (GRCm39) D784E probably benign Het
Pcdhgb1 T A 18: 37,815,117 (GRCm39) M536K possibly damaging Het
Pml T A 9: 58,127,651 (GRCm39) Q698L possibly damaging Het
Pon1 T C 6: 5,171,769 (GRCm39) Y294C probably benign Het
Rasal2 T C 1: 156,973,849 (GRCm39) probably null Het
Rims1 T A 1: 22,522,246 (GRCm39) H484L probably damaging Het
Rpia C A 6: 70,743,630 (GRCm39) V274L possibly damaging Het
Sart1 A G 19: 5,433,225 (GRCm39) L424P probably damaging Het
Scnm1 A C 3: 95,040,134 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,968 (GRCm39) M613L possibly damaging Het
Snph A G 2: 151,435,641 (GRCm39) V429A probably damaging Het
Tarbp1 T A 8: 127,170,934 (GRCm39) D1022V probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Ttc8 A G 12: 98,909,594 (GRCm39) N100D probably benign Het
Zbtb49 T A 5: 38,357,997 (GRCm39) H752L probably benign Het
Zfp1005 A T 2: 150,110,043 (GRCm39) E244D probably benign Het
Zfp263 T C 16: 3,564,760 (GRCm39) probably null Het
Zfp46 A G 4: 136,018,458 (GRCm39) T431A probably benign Het
Other mutations in Igkv5-39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01530:Igkv5-39 APN 6 69,877,459 (GRCm39) missense probably damaging 1.00
IGL01754:Igkv5-39 APN 6 69,877,661 (GRCm39) missense probably damaging 0.96
IGL02871:Igkv5-39 APN 6 69,877,490 (GRCm39) missense probably benign 0.01
IGL02802:Igkv5-39 UTSW 6 69,877,457 (GRCm39) missense probably benign 0.42
R3843:Igkv5-39 UTSW 6 69,877,526 (GRCm39) missense probably damaging 1.00
R6328:Igkv5-39 UTSW 6 69,877,489 (GRCm39) nonsense probably null
R8132:Igkv5-39 UTSW 6 69,877,589 (GRCm39) missense probably damaging 0.99
R8296:Igkv5-39 UTSW 6 69,877,607 (GRCm39) missense probably benign 0.03
R8765:Igkv5-39 UTSW 6 69,877,915 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACAGCTGAAGCATCTCAGCC -3'
(R):5'- ACCACATGGGATTTGACTTTCTG -3'

Sequencing Primer
(F):5'- AGCTGAAGCATCTCAGCCTCTTAC -3'
(R):5'- TGATGACTCAGTCTCCAG -3'
Posted On 2020-10-20