Incidental Mutation 'IGL01697:Ighv12-3'
ID104295
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv12-3
Ensembl Gene ENSMUSG00000076676
Gene Nameimmunoglobulin heavy variable V12-3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL01697
Quality Score
Status
Chromosome12
Chromosomal Location114366521-114366954 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to T at 114366953 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000100266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103485]
Predicted Effect probably null
Transcript: ENSMUST00000103485
AA Change: M1K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100266
Gene: ENSMUSG00000076676
AA Change: M1K

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T A 4: 156,119,156 probably benign Het
Arid2 A C 15: 96,361,572 probably null Het
Cadm1 C A 9: 47,850,324 D435E probably damaging Het
Dagla A G 19: 10,271,198 F33L probably benign Het
Edrf1 A G 7: 133,643,730 H199R probably benign Het
F5 T A 1: 164,194,052 N1365K probably benign Het
Fam205c T A 4: 42,874,163 M2L probably benign Het
Gipc2 T G 3: 152,137,608 I131L probably benign Het
Gpc1 C T 1: 92,858,410 S507F possibly damaging Het
Grid1 A G 14: 35,309,257 D269G probably benign Het
Kif5b T C 18: 6,226,871 H129R possibly damaging Het
Lipo3 A T 19: 33,559,565 C252S probably damaging Het
Mast4 A C 13: 102,767,893 N645K probably damaging Het
Megf9 T A 4: 70,433,472 T471S possibly damaging Het
Mmrn1 A G 6: 60,976,493 D586G possibly damaging Het
Ninl A T 2: 150,939,947 L1206Q probably damaging Het
Olfr1446 T A 19: 12,890,467 T37S probably benign Het
Olfr45 T C 7: 140,691,652 V249A possibly damaging Het
Olfr765 C A 10: 129,046,502 C187F probably damaging Het
Oog2 T A 4: 144,195,184 N221K possibly damaging Het
Pik3ap1 G A 19: 41,324,579 A365V probably damaging Het
Ppwd1 T C 13: 104,220,464 E181G probably benign Het
Scaf11 A C 15: 96,423,623 probably benign Het
Skint7 T A 4: 111,980,457 probably benign Het
Sox14 T C 9: 99,875,663 I8V probably benign Het
Stim1 A T 7: 102,425,969 probably benign Het
Ttc37 C T 13: 76,128,733 L479F probably benign Het
Ttll3 T C 6: 113,399,729 S357P probably benign Het
Vmn1r178 T A 7: 23,893,689 I54N probably damaging Het
Zdhhc2 T C 8: 40,467,419 probably benign Het
Other mutations in Ighv12-3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6542:Ighv12-3 UTSW 12 114366815 missense probably benign 0.41
Posted On2014-01-21