Incidental Mutation 'R6168:Igkv8-27'
ID 490247
Institutional Source Beutler Lab
Gene Symbol Igkv8-27
Ensembl Gene ENSMUSG00000076580
Gene Name immunoglobulin kappa chain variable 8-27
Synonyms Gm16944
MMRRC Submission 044430-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R6168 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 70148793-70149254 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70148880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 91 (S91R)
Ref Sequence ENSEMBL: ENSMUSP00000142998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103381] [ENSMUST00000197272]
AlphaFold A0A075B5N4
Predicted Effect probably benign
Transcript: ENSMUST00000103381
AA Change: S71R

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000100182
Gene: ENSMUSG00000076580
AA Change: S71R

DomainStartEndE-ValueType
IGv 18 96 1.51e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197272
AA Change: S91R

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142998
Gene: ENSMUSG00000076580
AA Change: S91R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 116 6.3e-24 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C T 2: 68,571,827 (GRCm39) L568F possibly damaging Het
Adam3 A T 8: 25,171,630 (GRCm39) probably null Het
Adamts13 G T 2: 26,894,898 (GRCm39) A1069S probably benign Het
Adarb1 A G 10: 77,158,153 (GRCm39) L98P probably damaging Het
Ahnak2 T C 12: 112,747,750 (GRCm39) E1035G probably benign Het
Alox12b T A 11: 69,060,460 (GRCm39) I672N probably damaging Het
Ark2n A G 18: 77,761,653 (GRCm39) S220P probably damaging Het
Ash1l C T 3: 88,960,080 (GRCm39) R2271* probably null Het
Atf7ip A G 6: 136,536,817 (GRCm39) T17A probably damaging Het
Col6a5 A G 9: 105,752,986 (GRCm39) probably null Het
Crcp A G 5: 130,066,737 (GRCm39) N41S probably damaging Het
Defb15 A C 8: 22,420,069 (GRCm39) N19K possibly damaging Het
Dnah7a T A 1: 53,450,727 (GRCm39) D3901V probably damaging Het
Dnah7b A C 1: 46,329,863 (GRCm39) T3236P probably damaging Het
Dnmbp A G 19: 43,838,679 (GRCm39) S608P probably damaging Het
Efcab12 T C 6: 115,791,577 (GRCm39) K532E probably damaging Het
Fbrsl1 C T 5: 110,543,922 (GRCm39) V54M probably damaging Het
Gm14496 T A 2: 181,642,750 (GRCm39) V807E probably damaging Het
Hoxa2 A G 6: 52,140,461 (GRCm39) L175P probably damaging Het
Igkv4-58 A C 6: 69,477,281 (GRCm39) D105E probably damaging Het
Itgax T C 7: 127,732,269 (GRCm39) V175A probably damaging Het
Kcnc2 A G 10: 112,291,661 (GRCm39) D283G probably benign Het
Lepr G A 4: 101,592,789 (GRCm39) G135R probably damaging Het
Mcf2l A G 8: 13,051,823 (GRCm39) S378G probably benign Het
Mta1 T A 12: 113,086,739 (GRCm39) D145E probably damaging Het
Nkd1 T A 8: 89,311,859 (GRCm39) N44K probably damaging Het
Notch2 A G 3: 98,052,533 (GRCm39) K2010E probably damaging Het
Nsd3 G A 8: 26,181,188 (GRCm39) G930S probably null Het
Or2w1 T G 13: 21,317,399 (GRCm39) I151M possibly damaging Het
Or6c203 A G 10: 129,010,035 (GRCm39) F285S probably damaging Het
Or8g35 A G 9: 39,381,953 (GRCm39) L23P probably damaging Het
Or8k3 T G 2: 86,058,938 (GRCm39) I126L probably damaging Het
Or8u8 T C 2: 86,012,309 (GRCm39) I49V probably damaging Het
Pde4c G A 8: 71,202,688 (GRCm39) E625K probably benign Het
Pdgfb T C 15: 79,884,587 (GRCm39) T151A probably benign Het
Pik3r5 T C 11: 68,383,501 (GRCm39) V440A probably benign Het
Piwil2 T C 14: 70,632,800 (GRCm39) T591A probably benign Het
Ppm1l A G 3: 69,456,740 (GRCm39) D219G probably damaging Het
Psmc6 T C 14: 45,581,140 (GRCm39) I312T probably damaging Het
Rasl10a T C 11: 5,008,442 (GRCm39) V46A possibly damaging Het
Rhov T C 2: 119,101,453 (GRCm39) Y51C probably damaging Het
S100a16 C T 3: 90,449,879 (GRCm39) Q121* probably null Het
Slc5a12 T C 2: 110,447,089 (GRCm39) V199A probably damaging Het
Slc6a7 A T 18: 61,134,734 (GRCm39) M447K probably benign Het
Tarbp1 A G 8: 127,175,144 (GRCm39) V764A possibly damaging Het
Vmn1r197 T C 13: 22,512,678 (GRCm39) Y200H possibly damaging Het
Vmn2r102 G A 17: 19,914,402 (GRCm39) A656T possibly damaging Het
Vmn2r49 G T 7: 9,718,713 (GRCm39) D450E probably benign Het
Wdr7 T A 18: 63,911,048 (GRCm39) N813K probably damaging Het
Yeats2 T C 16: 19,998,308 (GRCm39) S288P probably benign Het
Zfta T C 19: 7,400,305 (GRCm39) V257A probably benign Het
Zswim6 G A 13: 107,924,299 (GRCm39) noncoding transcript Het
Other mutations in Igkv8-27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02452:Igkv8-27 APN 6 70,148,925 (GRCm39) nonsense probably null
R5717:Igkv8-27 UTSW 6 70,148,918 (GRCm39) missense probably benign 0.07
R7563:Igkv8-27 UTSW 6 70,148,887 (GRCm39) missense probably benign 0.01
R7745:Igkv8-27 UTSW 6 70,148,999 (GRCm39) missense probably benign 0.12
R8446:Igkv8-27 UTSW 6 70,148,932 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCATAGCAGCTCTCAGAAGG -3'
(R):5'- TTATGATGACACAGTCGCCATC -3'

Sequencing Primer
(F):5'- CTCTCAGAAGGGGAAGTGTGC -3'
(R):5'- TATGATGACACAGTCGCCATCATCTC -3'
Posted On 2017-10-10