Incidental Mutation 'R4862:Igkv6-13'
ID 374591
Institutional Source Beutler Lab
Gene Symbol Igkv6-13
Ensembl Gene ENSMUSG00000076594
Gene Name immunoglobulin kappa variable 6-13
Synonyms kappa-tnp V-J
MMRRC Submission 043260-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R4862 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 70434487-70435020 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 70434765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 27 (V27L)
Ref Sequence ENSEMBL: ENSMUSP00000143746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103395] [ENSMUST00000198184]
AlphaFold A0A075B5N7
Predicted Effect probably benign
Transcript: ENSMUST00000103395
AA Change: V3L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000100196
Gene: ENSMUSG00000076594
AA Change: V3L

DomainStartEndE-ValueType
IGv 18 90 1.86e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197475
Predicted Effect probably benign
Transcript: ENSMUST00000198184
AA Change: V27L

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000143746
Gene: ENSMUSG00000076594
AA Change: V27L

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IGv 42 114 7.6e-24 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,747,083 (GRCm39) T167A probably benign Het
Aox1 T G 1: 58,134,316 (GRCm39) D1096E probably damaging Het
Arid4a A T 12: 71,122,721 (GRCm39) D1034V probably damaging Het
Ccdc168 G A 1: 44,097,178 (GRCm39) P1307S possibly damaging Het
Chaf1b T A 16: 93,684,022 (GRCm39) L91Q probably damaging Het
Copb2 G T 9: 98,463,320 (GRCm39) D512Y probably damaging Het
Daam1 A G 12: 71,988,981 (GRCm39) E127G unknown Het
Dhx16 A G 17: 36,194,154 (GRCm39) I422V probably benign Het
Dnah6 C T 6: 73,098,771 (GRCm39) V2043I probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dync2h1 A G 9: 7,147,717 (GRCm39) V971A probably benign Het
Elapor1 A G 3: 108,375,149 (GRCm39) S573P probably benign Het
Elmo1 A G 13: 20,633,682 (GRCm39) H448R probably benign Het
Fndc1 A T 17: 7,988,567 (GRCm39) V1165D unknown Het
Hapln1 G A 13: 89,749,571 (GRCm39) G39S possibly damaging Het
Krt28 A T 11: 99,255,936 (GRCm39) I441N possibly damaging Het
Lgr5 A T 10: 115,298,669 (GRCm39) D286E probably damaging Het
Mapkap1 A G 2: 34,513,442 (GRCm39) Y448C probably damaging Het
Or2f1 T C 6: 42,721,489 (GRCm39) Y173H possibly damaging Het
Or5t9 T A 2: 86,659,876 (GRCm39) V260E probably damaging Het
Ppt1 A C 4: 122,738,242 (GRCm39) N89T probably damaging Het
Prss3b T G 6: 41,009,345 (GRCm39) D163A possibly damaging Het
Ptgs1 G T 2: 36,127,267 (GRCm39) R51L probably damaging Het
Slc47a2 A G 11: 61,204,520 (GRCm39) F277S possibly damaging Het
Smcr8 A G 11: 60,668,897 (GRCm39) E15G probably benign Het
Tbce A G 13: 14,173,004 (GRCm39) S476P possibly damaging Het
Tmem131l A T 3: 83,805,517 (GRCm39) probably benign Het
Unc5c T C 3: 141,495,534 (GRCm39) Y468H probably damaging Het
Ush1c A T 7: 45,878,664 (GRCm39) L117H probably damaging Het
Wdfy4 A G 14: 32,822,860 (GRCm39) probably null Het
Zfa-ps G T 10: 52,419,192 (GRCm39) noncoding transcript Het
Zfat C A 15: 68,051,959 (GRCm39) A605S probably benign Het
Zfp853 T A 5: 143,275,416 (GRCm39) Q68L unknown Het
Zfyve16 G A 13: 92,644,764 (GRCm39) T1146I probably damaging Het
Other mutations in Igkv6-13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Igkv6-13 APN 6 70,434,645 (GRCm39) missense probably damaging 0.99
R4616:Igkv6-13 UTSW 6 70,435,019 (GRCm39) start codon destroyed probably null 0.95
R6998:Igkv6-13 UTSW 6 70,434,573 (GRCm39) missense probably damaging 1.00
R7039:Igkv6-13 UTSW 6 70,434,498 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ATCAGGGACTCCAGTGTACC -3'
(R):5'- ACTCAGGCCTTTGTATTCGCG -3'

Sequencing Primer
(F):5'- ACTCCAGTGTACCGATTGGATGC -3'
(R):5'- AGGCCTTTGTATTCGCGTTTCTC -3'
Posted On 2016-03-17