Incidental Mutation 'IGL02118:Ighv2-6-8'
ID 280459
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv2-6-8
Ensembl Gene ENSMUSG00000076646
Gene Name immunoglobulin heavy variable 2-6-8
Synonyms Gm16887
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL02118
Quality Score
Status
Chromosome 12
Chromosomal Location 113759758-113760050 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113760037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 24 (K24R)
Ref Sequence ENSEMBL: ENSMUSP00000141760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103455] [ENSMUST00000192911]
AlphaFold A0A075B5Q7
Predicted Effect possibly damaging
Transcript: ENSMUST00000103455
AA Change: K23R

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100236
Gene: ENSMUSG00000076646
AA Change: K23R

DomainStartEndE-ValueType
IGv 35 114 1.87e-26 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000192911
AA Change: K24R

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141760
Gene: ENSMUSG00000076646
AA Change: K24R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 116 2.2e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193550
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 T C 5: 35,758,865 (GRCm39) Y359H possibly damaging Het
Actn2 A G 13: 12,291,433 (GRCm39) probably benign Het
Actr8 T C 14: 29,704,728 (GRCm39) probably null Het
Aldh16a1 G A 7: 44,795,459 (GRCm39) P400L probably damaging Het
Aldob T A 4: 49,538,790 (GRCm39) K243* probably null Het
Arfgap1 T C 2: 180,622,237 (GRCm39) F274S possibly damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cask T C X: 13,425,634 (GRCm39) I471V probably damaging Het
Cdc42ep4 C T 11: 113,619,942 (GRCm39) G150S probably benign Het
Cpne1 T G 2: 155,919,563 (GRCm39) D278A possibly damaging Het
Gcn1 A G 5: 115,748,938 (GRCm39) E1856G probably damaging Het
Gm8362 A T 14: 18,149,595 (GRCm39) V159E probably damaging Het
Golga5 A G 12: 102,462,011 (GRCm39) I700V possibly damaging Het
Ifi206 T C 1: 173,309,334 (GRCm39) T221A probably benign Het
Morc1 T C 16: 48,407,467 (GRCm39) L661P probably benign Het
Per2 G A 1: 91,352,031 (GRCm39) T825I probably damaging Het
Plscr1l1 A T 9: 92,233,011 (GRCm39) K45* probably null Het
Pramel20 A T 4: 143,297,726 (GRCm39) T49S probably benign Het
Prkar2b A G 12: 32,025,963 (GRCm39) V19A probably damaging Het
Psmb8 T A 17: 34,420,198 (GRCm39) D263E probably damaging Het
Pum2 T C 12: 8,779,117 (GRCm39) I563T probably benign Het
Retreg1 T G 15: 25,966,709 (GRCm39) probably null Het
Rfx7 A G 9: 72,524,486 (GRCm39) T559A probably benign Het
Rnf31 T G 14: 55,836,569 (GRCm39) I801S probably damaging Het
Rom1 G T 19: 8,906,386 (GRCm39) T51N possibly damaging Het
Sema6b G T 17: 56,439,821 (GRCm39) P7T probably benign Het
Stpg1 A G 4: 135,235,375 (GRCm39) probably benign Het
Sugct A T 13: 17,627,105 (GRCm39) Y249* probably null Het
Tbc1d21 C T 9: 58,267,746 (GRCm39) V317M probably benign Het
Tcea2 A G 2: 181,327,628 (GRCm39) I125V probably benign Het
Ttc39b T A 4: 83,216,186 (GRCm39) D19V probably damaging Het
Tti2 T A 8: 31,645,537 (GRCm39) probably null Het
Usp32 A T 11: 84,923,003 (GRCm39) Y142* probably null Het
Vill A G 9: 118,889,466 (GRCm39) Y134C probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Zfp398 A G 6: 47,835,879 (GRCm39) D14G probably damaging Het
Zfp598 T C 17: 24,896,591 (GRCm39) Y223H probably damaging Het
Znhit6 G T 3: 145,283,859 (GRCm39) C43F probably damaging Het
Other mutations in Ighv2-6-8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4095:Ighv2-6-8 UTSW 12 113,759,773 (GRCm39) missense probably damaging 1.00
R5542:Ighv2-6-8 UTSW 12 113,760,187 (GRCm39) start codon destroyed probably benign 0.33
R8347:Ighv2-6-8 UTSW 12 113,759,947 (GRCm39) missense probably benign 0.02
R8500:Ighv2-6-8 UTSW 12 113,759,834 (GRCm39) missense possibly damaging 0.82
R8988:Ighv2-6-8 UTSW 12 113,759,980 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16