Incidental Mutation 'IGL02701:Ighv12-3'
ID 304121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv12-3
Ensembl Gene ENSMUSG00000076676
Gene Name immunoglobulin heavy variable V12-3
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL02701
Quality Score
Status
Chromosome 12
Chromosomal Location 114330146-114330439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 114330421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 25 (S25A)
Ref Sequence ENSEMBL: ENSMUSP00000100266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103485]
AlphaFold A0A075B5T1
Predicted Effect probably damaging
Transcript: ENSMUST00000103485
AA Change: S25A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100266
Gene: ENSMUSG00000076676
AA Change: S25A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGv 35 116 5.3e-26 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A G 2: 20,896,902 (GRCm39) C125R probably damaging Het
Blmh A G 11: 76,862,736 (GRCm39) D383G probably benign Het
Brca1 T C 11: 101,416,061 (GRCm39) E691G probably damaging Het
Chrm3 G A 13: 9,928,500 (GRCm39) R179* probably null Het
Cnrip1 A G 11: 17,028,415 (GRCm39) T116A probably benign Het
Csmd2 T C 4: 128,389,934 (GRCm39) V2223A probably benign Het
Dalrd3 T A 9: 108,449,483 (GRCm39) V143D possibly damaging Het
Ddx60 A T 8: 62,432,375 (GRCm39) I886L probably damaging Het
Dennd4a T C 9: 64,804,635 (GRCm39) F1325L possibly damaging Het
Dnmt3l A T 10: 77,890,856 (GRCm39) T253S probably benign Het
Fads2b A G 2: 85,314,513 (GRCm39) L480P probably damaging Het
Ftdc1 G A 16: 58,436,170 (GRCm39) S51L probably benign Het
Gde1 T A 7: 118,297,860 (GRCm39) T9S probably damaging Het
Ggcx T A 6: 72,395,455 (GRCm39) probably benign Het
Hspg2 C T 4: 137,284,485 (GRCm39) A3481V probably damaging Het
Igf1r T C 7: 67,850,997 (GRCm39) Y931H possibly damaging Het
Itga5 A C 15: 103,256,193 (GRCm39) C920G probably damaging Het
Kmt5b A G 19: 3,846,681 (GRCm39) D118G probably benign Het
Lrp1b T G 2: 41,136,029 (GRCm39) N1647T possibly damaging Het
Lrrc71 T C 3: 87,649,079 (GRCm39) E363G probably benign Het
Mapk1 A G 16: 16,833,770 (GRCm39) Y41C probably benign Het
Mib1 T C 18: 10,747,357 (GRCm39) V178A probably damaging Het
Or13c7d A G 4: 43,770,366 (GRCm39) I215T probably benign Het
Or5m10b A G 2: 85,699,802 (GRCm39) I289V probably benign Het
Or5p52 A T 7: 107,502,649 (GRCm39) T242S probably benign Het
Plb1 T C 5: 32,521,541 (GRCm39) V1464A unknown Het
Plekhg5 T C 4: 152,187,479 (GRCm39) S82P probably damaging Het
Plxna4 T C 6: 32,494,494 (GRCm39) T41A probably benign Het
Ppip5k1 A C 2: 121,147,130 (GRCm39) probably null Het
Pttg1ip2 A G 5: 5,516,623 (GRCm39) probably null Het
Rpl14 T C 9: 120,402,639 (GRCm39) probably benign Het
Slc44a2 T C 9: 21,259,247 (GRCm39) F554L probably benign Het
Slco1b2 T A 6: 141,631,271 (GRCm39) V635E probably benign Het
Sv2a T A 3: 96,094,447 (GRCm39) C261S probably damaging Het
Thbs2 T C 17: 14,903,623 (GRCm39) I353V probably benign Het
Tspan4 G A 7: 141,071,941 (GRCm39) V205M probably damaging Het
Vezf1 A T 11: 87,967,047 (GRCm39) R93* probably null Het
Wwox T A 8: 115,433,108 (GRCm39) V258D probably damaging Het
Zmynd12 G T 4: 119,301,952 (GRCm39) probably benign Het
Other mutations in Ighv12-3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01697:Ighv12-3 APN 12 114,330,573 (GRCm39) start codon destroyed probably null 0.86
IGL02314:Ighv12-3 APN 12 114,330,421 (GRCm39) missense probably damaging 1.00
IGL02945:Ighv12-3 APN 12 114,330,337 (GRCm39) missense probably damaging 1.00
R5569:Ighv12-3 UTSW 12 114,330,555 (GRCm39) missense probably benign
R5952:Ighv12-3 UTSW 12 114,330,204 (GRCm39) missense probably benign 0.07
R6542:Ighv12-3 UTSW 12 114,330,435 (GRCm39) missense probably benign 0.41
R8962:Ighv12-3 UTSW 12 114,330,204 (GRCm39) missense probably benign 0.07
R9131:Ighv12-3 UTSW 12 114,330,546 (GRCm39) missense probably benign 0.40
R9335:Ighv12-3 UTSW 12 114,330,312 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16