Incidental Mutation 'R6577:Igkv8-24'
ID 523539
Institutional Source Beutler Lab
Gene Symbol Igkv8-24
Ensembl Gene ENSMUSG00000076583
Gene Name immunoglobulin kappa chain variable 8-24
Synonyms
MMRRC Submission 044701-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.261) question?
Stock # R6577 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 70193842-70194405 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70193947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 87 (R87H)
Ref Sequence ENSEMBL: ENSMUSP00000100185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103383] [ENSMUST00000103384]
AlphaFold A0A140T8P5
Predicted Effect probably benign
Transcript: ENSMUST00000103383
SMART Domains Protein: ENSMUSP00000100184
Gene: ENSMUSG00000094930

DomainStartEndE-ValueType
IGv 38 110 3.24e-21 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000103384
AA Change: R87H

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100185
Gene: ENSMUSG00000076583
AA Change: R87H

DomainStartEndE-ValueType
IGv 38 116 1.21e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196786
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 93.1%
Validation Efficiency 97% (38/39)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Api5 T C 2: 94,252,726 (GRCm39) Y348C probably benign Het
Ark2n T C 18: 77,740,855 (GRCm39) T285A probably benign Het
Arl14 A G 3: 69,130,405 (GRCm39) E184G probably benign Het
Asap3 T C 4: 135,965,541 (GRCm39) probably null Het
Atp11b T A 3: 35,893,311 (GRCm39) V36E probably damaging Het
Atp13a4 C T 16: 29,298,659 (GRCm39) S100N probably benign Het
Cd27 T C 6: 125,213,756 (GRCm39) T34A probably benign Het
Clec10a T C 11: 70,061,436 (GRCm39) S274P probably benign Het
Cntnap2 C T 6: 46,147,206 (GRCm39) T484I probably benign Het
Cpsf1 CCCCTGCATGAGGCAGGTCCC CCCC 15: 76,481,655 (GRCm39) probably null Het
Cracd A T 5: 77,013,947 (GRCm39) probably benign Het
Def8 T C 8: 124,183,449 (GRCm39) S304P probably benign Het
Dgkd G A 1: 87,867,962 (GRCm39) V299M probably damaging Het
Ephb2 T C 4: 136,384,861 (GRCm39) D850G probably damaging Het
Gjd3 T C 11: 102,691,130 (GRCm39) N291S possibly damaging Het
Hc T C 2: 34,922,138 (GRCm39) I563V probably benign Het
Hells C T 19: 38,919,909 (GRCm39) Q20* probably null Het
Hid1 G C 11: 115,245,462 (GRCm39) P448A possibly damaging Het
Irf6 A G 1: 192,851,662 (GRCm39) S418G probably damaging Het
Kcnv2 T A 19: 27,301,420 (GRCm39) C424S possibly damaging Het
Lmln T A 16: 32,927,370 (GRCm39) probably null Het
Myo1a A T 10: 127,551,189 (GRCm39) I678F possibly damaging Het
Nup98 A C 7: 101,778,053 (GRCm39) probably null Het
Papolg GGACTTGGGATACTTACGCTTTG GG 11: 23,829,857 (GRCm39) probably benign Het
Ppfibp1 T A 6: 146,901,153 (GRCm39) probably null Het
Sardh T C 2: 27,108,867 (GRCm39) T623A possibly damaging Het
Scml4 A G 10: 42,823,107 (GRCm39) N251D probably damaging Het
Skap1 T C 11: 96,416,870 (GRCm39) Y52H probably damaging Het
Srp68 G A 11: 116,156,290 (GRCm39) R113W probably damaging Het
Srsf12 T C 4: 33,209,196 (GRCm39) probably benign Het
Stat5b A G 11: 100,688,526 (GRCm39) M312T probably benign Het
Tma7 T C 9: 108,911,262 (GRCm39) probably benign Het
Tmem120b T G 5: 123,254,710 (GRCm39) F304V probably damaging Het
Tns3 G A 11: 8,499,057 (GRCm39) L9F probably damaging Het
Tns3 G T 11: 8,499,058 (GRCm39) D8E probably damaging Het
Tsc2 C T 17: 24,829,473 (GRCm39) A765T probably damaging Het
Tut7 C T 13: 59,955,975 (GRCm39) C45Y probably damaging Het
Uba1y A G Y: 825,465 (GRCm39) I276V probably benign Homo
Upb1 T G 10: 75,248,723 (GRCm39) L81R probably damaging Het
Uros C A 7: 133,302,569 (GRCm39) C73F probably damaging Het
Zfp820 T C 17: 22,038,384 (GRCm39) I315V probably benign Het
Other mutations in Igkv8-24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02644:Igkv8-24 APN 6 70,193,872 (GRCm39) missense probably damaging 1.00
R5217:Igkv8-24 UTSW 6 70,194,386 (GRCm39) missense probably damaging 0.96
R5737:Igkv8-24 UTSW 6 70,194,122 (GRCm39) missense probably benign 0.01
R5847:Igkv8-24 UTSW 6 70,193,956 (GRCm39) missense probably damaging 1.00
R6634:Igkv8-24 UTSW 6 70,194,365 (GRCm39) nonsense probably null
R7576:Igkv8-24 UTSW 6 70,194,002 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- AGCATTTCAGACATGGCACC -3'
(R):5'- TCCTCCCTGGCTATGTCAGTAG -3'

Sequencing Primer
(F):5'- TTTCAGACATGGCACCTCTAAGG -3'
(R):5'- ACTATGAGCTGCAAGTCC -3'
Posted On 2018-06-22