Incidental Mutation 'R5737:Igkv8-24'
ID 444577
Institutional Source Beutler Lab
Gene Symbol Igkv8-24
Ensembl Gene ENSMUSG00000076583
Gene Name immunoglobulin kappa chain variable 8-24
Synonyms
MMRRC Submission 043195-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.261) question?
Stock # R5737 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 70193842-70194405 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70194122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 29 (S29T)
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 probably benign
Transcript: ENSMUST00000103384
AA Change: S29T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000100185
Gene: ENSMUSG00000076583
AA Change: S29T

DomainStartEndE-ValueType
IGv 38 116 1.21e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196786
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A G 13: 54,707,055 (GRCm39) V78A probably damaging Het
Albfm1 G T 5: 90,720,642 (GRCm39) C271F probably damaging Het
Aldh1l2 T A 10: 83,356,189 (GRCm39) D67V probably damaging Het
Ankfy1 T A 11: 72,623,100 (GRCm39) D253E probably damaging Het
Arhgap42 T C 9: 9,059,069 (GRCm39) K159R probably damaging Het
Atrnl1 C T 19: 57,766,320 (GRCm39) A1219V possibly damaging Het
Cacna1c C T 6: 118,718,893 (GRCm39) V386I probably damaging Het
Cacna2d2 A G 9: 107,403,946 (GRCm39) T1015A possibly damaging Het
Cadps2 T C 6: 23,328,804 (GRCm39) M999V probably benign Het
Ccer1 A T 10: 97,530,546 (GRCm39) H403L possibly damaging Het
Cubn A T 2: 13,393,702 (GRCm39) I1433N probably damaging Het
Dcbld2 T C 16: 58,281,348 (GRCm39) V531A probably damaging Het
Dnah11 A G 12: 118,156,125 (GRCm39) V175A probably benign Het
Dnah3 T C 7: 119,658,421 (GRCm39) K920R probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dscaml1 C T 9: 45,656,483 (GRCm39) R1608C probably damaging Het
Gtf3c2 A G 5: 31,325,593 (GRCm39) probably null Het
Heca A T 10: 17,791,462 (GRCm39) M198K possibly damaging Het
Lipo2 A C 19: 33,699,096 (GRCm39) N311K probably damaging Het
Lmo7 T G 14: 102,124,672 (GRCm39) I266S probably damaging Het
Naip2 T A 13: 100,298,362 (GRCm39) E558V probably benign Het
Nelfa T A 5: 34,056,457 (GRCm39) probably null Het
Phka2 ACC AC X: 159,342,862 (GRCm39) probably null Het
Psmg2 T C 18: 67,779,107 (GRCm39) S92P possibly damaging Het
Rasa2 C T 9: 96,452,718 (GRCm39) probably null Het
Slc6a3 A C 13: 73,692,923 (GRCm39) N181T probably damaging Het
Tdrd5 A G 1: 156,128,294 (GRCm39) M136T probably benign Het
Tmem178b A C 6: 40,222,575 (GRCm39) M97L possibly damaging Het
Tnfaip8l1 A G 17: 56,478,950 (GRCm39) D80G probably benign Het
Tomt T C 7: 101,549,524 (GRCm39) T255A probably benign Het
Uqcc5 A G 14: 30,850,676 (GRCm39) I22T probably benign Het
Vmn2r26 G T 6: 124,016,408 (GRCm39) V291F 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
R5847:Igkv8-24 UTSW 6 70,193,956 (GRCm39) missense probably damaging 1.00
R6577:Igkv8-24 UTSW 6 70,193,947 (GRCm39) missense possibly damaging 0.58
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'- TGCCTATGAAGCGATCAGGG -3'
(R):5'- GACCCAGGTCCTCATGTTTC -3'

Sequencing Primer
(F):5'- GACCCCAGATTCCCTAGTGGATG -3'
(R):5'- CTGCTCTGGGTATCTGGTAAG -3'
Posted On 2016-11-21