Incidental Mutation 'R6542:Ighv12-3'
ID 520871
Institutional Source Beutler Lab
Gene Symbol Ighv12-3
Ensembl Gene ENSMUSG00000076676
Gene Name immunoglobulin heavy variable V12-3
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R6542 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 114366521-114366954 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114366815 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 20 (M20K)
Ref Sequence ENSEMBL: ENSMUSP00000100266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103485]
AlphaFold A0A075B5T1
Predicted Effect probably benign
Transcript: ENSMUST00000103485
AA Change: M20K

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000100266
Gene: ENSMUSG00000076676
AA Change: M20K

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGv 35 116 5.3e-26 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 76,883,055 L566Q probably damaging Het
Apbb1ip C T 2: 22,874,960 T551I probably benign Het
Aqp5 A G 15: 99,594,262 E247G probably damaging Het
Bdkrb1 T C 12: 105,605,093 F306S probably damaging Het
Ccdc114 G T 7: 45,948,390 A575S probably benign Het
Clca3a1 C T 3: 144,759,260 V71I probably benign Het
Cog4 A G 8: 110,851,362 D36G probably damaging Het
Ctbp1 A G 5: 33,269,571 probably benign Het
Dync1li2 C T 8: 104,442,764 G13D probably benign Het
F5 T C 1: 164,194,468 V1504A probably benign Het
Fancm T C 12: 65,097,429 L555P probably damaging Het
Fgfr2 A T 7: 130,201,123 S152T probably benign Het
Fign A T 2: 63,980,295 H210Q possibly damaging Het
Hbs1l A G 10: 21,304,617 N66S probably benign Het
Isoc2b T C 7: 4,851,455 K26E probably damaging Het
Katnal1 C T 5: 148,876,206 A467T probably benign Het
Loxl3 A G 6: 83,048,166 T292A probably benign Het
Map3k9 A G 12: 81,722,254 S1007P possibly damaging Het
Mcur1 A T 13: 43,551,658 V174D probably damaging Het
Metrnl A C 11: 121,702,878 probably null Het
Midn A G 10: 80,156,584 D490G probably damaging Het
Mmp10 G A 9: 7,506,512 A330T probably benign Het
Mto1 T A 9: 78,457,228 C281S possibly damaging Het
Nek10 A G 14: 14,999,108 I1036V probably benign Het
Olfr1535 T C 13: 21,555,507 T172A probably damaging Het
Olfr157 A C 4: 43,835,686 L268R probably benign Het
Olfr374 T C 8: 72,109,871 F102L probably damaging Het
Olfr912 C A 9: 38,539,437 L181I probably benign Het
Parp4 A C 14: 56,647,882 I1473L unknown Het
Pcdhb9 A G 18: 37,401,589 Y212C probably damaging Het
Pilra G T 5: 137,821,975 probably null Het
Pkhd1 A G 1: 20,585,703 I202T probably benign Het
Ppfia2 A T 10: 106,835,725 E432D probably damaging Het
Prom1 T C 5: 44,037,509 D298G possibly damaging Het
Prr22 T A 17: 56,770,527 probably null Het
Sept2 T A 1: 93,497,466 probably null Het
Setdb1 C A 3: 95,340,307 V426L probably damaging Het
Slc8b1 C T 5: 120,529,517 A405V probably damaging Het
Srrm1 G A 4: 135,340,926 R279* probably null Het
Ssh2 C G 11: 77,450,150 D709E possibly damaging Het
Tmprss9 A G 10: 80,888,555 D373G probably damaging Het
Trpm3 T C 19: 22,926,113 L921S probably benign Het
Ubqln3 T C 7: 104,141,617 N422S probably benign Het
Vmn2r105 C T 17: 20,228,541 V125I probably benign Het
Vmn2r69 A T 7: 85,411,205 Y390* probably null Het
Zcwpw1 T C 5: 137,812,020 F353L probably damaging Het
Zfp462 G A 4: 55,023,433 C987Y probably damaging Het
Zkscan4 A G 13: 21,484,338 S320G probably damaging Het
Other mutations in Ighv12-3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01697:Ighv12-3 APN 12 114366953 start codon destroyed probably null 0.86
IGL02314:Ighv12-3 APN 12 114366801 missense probably damaging 1.00
IGL02701:Ighv12-3 APN 12 114366801 missense probably damaging 1.00
IGL02945:Ighv12-3 APN 12 114366717 missense probably damaging 1.00
R5569:Ighv12-3 UTSW 12 114366935 missense probably benign
R5952:Ighv12-3 UTSW 12 114366584 missense probably benign 0.07
R8962:Ighv12-3 UTSW 12 114366584 missense probably benign 0.07
R9131:Ighv12-3 UTSW 12 114366926 missense probably benign 0.40
R9335:Ighv12-3 UTSW 12 114366692 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGTTTCTCTAGTAATGGAGATGGG -3'
(R):5'- ACGGGACACTGAACTCTGAG -3'

Sequencing Primer
(F):5'- AGATGGGTTGTAGAAAGTTTCCCCAC -3'
(R):5'- CACTGAACTCTGAGGAGAAGG -3'
Posted On 2018-06-06