Incidental Mutation 'R5413:Igkv12-98'
ID 427586
Institutional Source Beutler Lab
Gene Symbol Igkv12-98
Ensembl Gene ENSMUSG00000076526
Gene Name immunoglobulin kappa variable 12-98
Synonyms Gm16636
MMRRC Submission 042982-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R5413 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 68547747-68548219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68548078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 68 (Y68C)
Ref Sequence ENSEMBL: ENSMUSP00000100128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103327] [ENSMUST00000196839]
AlphaFold A0A075B5K9
Predicted Effect possibly damaging
Transcript: ENSMUST00000103327
AA Change: Y68C

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100128
Gene: ENSMUSG00000076526
AA Change: Y68C

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
IGv 37 109 6.44e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196839
AA Change: Y69C

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143549
Gene: ENSMUSG00000076526
AA Change: Y69C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 110 2.8e-18 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 48,911,204 (GRCm39) T410S possibly damaging Het
Adamts3 A G 5: 89,856,626 (GRCm39) S316P probably damaging Het
Angptl3 A T 4: 98,919,259 (GRCm39) L6F probably benign Het
Clint1 T C 11: 45,777,307 (GRCm39) V98A probably damaging Het
Clk2 A G 3: 89,080,785 (GRCm39) N258S probably benign Het
Col18a1 T C 10: 76,905,310 (GRCm39) D723G probably damaging Het
Csmd3 A T 15: 47,701,831 (GRCm39) W1751R probably damaging Het
Daam1 C A 12: 71,993,066 (GRCm39) L352M unknown Het
Dennd2a A T 6: 39,441,227 (GRCm39) F964I probably damaging Het
Dock5 A G 14: 68,002,104 (GRCm39) L1622P probably damaging Het
Dpy19l4 A G 4: 11,289,700 (GRCm39) L195P probably damaging Het
Esp24 A C 17: 39,350,893 (GRCm39) E31A possibly damaging Het
Fars2 T A 13: 36,388,545 (GRCm39) Y11* probably null Het
Fbxl16 C A 17: 26,035,817 (GRCm39) T138K possibly damaging Het
Frmpd1 A G 4: 45,249,196 (GRCm39) I129V probably benign Het
Gria1 A G 11: 57,108,620 (GRCm39) N241S probably benign Het
Homer1 A G 13: 93,528,287 (GRCm39) E274G probably benign Het
Igdcc3 T C 9: 65,084,797 (GRCm39) V189A possibly damaging Het
Igkv3-3 G C 6: 70,664,414 (GRCm39) R85S probably damaging Het
Ldha A G 7: 46,500,320 (GRCm39) T144A possibly damaging Het
Lrp1 A G 10: 127,423,936 (GRCm39) probably null Het
Myh9 A T 15: 77,692,186 (GRCm39) Y124* probably null Het
Or14c44 A G 7: 86,061,675 (GRCm39) Y35C probably benign Het
Or2n1d G T 17: 38,646,515 (GRCm39) A156S probably benign Het
Or2y1b A T 11: 49,209,240 (GRCm39) Y289F probably damaging Het
Or6b13 A T 7: 139,782,635 (GRCm39) V16E possibly damaging Het
Osbp T C 19: 11,961,855 (GRCm39) Y551H probably damaging Het
Paf1 T C 7: 28,096,040 (GRCm39) M249T possibly damaging Het
Pcsk2 T C 2: 143,538,620 (GRCm39) probably null Het
Piwil1 G A 5: 128,820,944 (GRCm39) V290I possibly damaging Het
Prmt9 A T 8: 78,298,638 (GRCm39) D444V possibly damaging Het
Rapgef2 T C 3: 78,995,173 (GRCm39) D677G probably damaging Het
Tmem59 A G 4: 107,057,659 (GRCm39) E237G probably benign Het
Trpm5 A T 7: 142,634,705 (GRCm39) I664N probably damaging Het
Unc13b G A 4: 43,257,936 (GRCm39) probably null Het
Usp17lc C A 7: 103,067,763 (GRCm39) Q353K probably benign Het
Uvssa G A 5: 33,568,252 (GRCm39) V547M probably damaging Het
Vdac1 G T 11: 52,265,794 (GRCm39) L52F probably null Het
Vmn2r14 T A 5: 109,369,154 (GRCm39) I140L probably benign Het
Wnt3a A G 11: 59,166,182 (GRCm39) S33P probably benign Het
Wwp2 T A 8: 108,281,710 (GRCm39) Y300N probably damaging Het
Zwilch T A 9: 64,075,892 (GRCm39) probably null Het
Other mutations in Igkv12-98
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Igkv12-98 APN 6 68,548,093 (GRCm39) nonsense probably null
R4672:Igkv12-98 UTSW 6 68,547,940 (GRCm39) missense probably benign 0.15
R7329:Igkv12-98 UTSW 6 68,548,087 (GRCm39) missense possibly damaging 0.85
R8338:Igkv12-98 UTSW 6 68,548,159 (GRCm39) missense probably benign 0.08
R9448:Igkv12-98 UTSW 6 68,548,156 (GRCm39) missense probably damaging 1.00
Z1088:Igkv12-98 UTSW 6 68,548,015 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CATATGAGCATGGTTGGTGC -3'
(R):5'- GCAGAGCAGGCTTTCACTTC -3'

Sequencing Primer
(F):5'- GTGCTCCATGGTCTCCATAAATATTG -3'
(R):5'- CTGCTTCCTTGTATATTTGGTGAAAC -3'
Posted On 2016-09-01