Incidental Mutation 'IGL03269:Ighv1-18'
ID 415184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-18
Ensembl Gene ENSMUSG00000076695
Gene Name immunoglobulin heavy variable V1-18
Synonyms Gm16856
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # IGL03269
Quality Score
Status
Chromosome 12
Chromosomal Location 114646252-114646545 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114646466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 46 (Y46C)
Ref Sequence ENSEMBL: ENSMUSP00000142064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103504] [ENSMUST00000194350]
AlphaFold A0A075B5U4
Predicted Effect probably damaging
Transcript: ENSMUST00000103504
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100285
Gene: ENSMUSG00000076695
AA Change: Y45C

DomainStartEndE-ValueType
Pfam:V-set 18 102 9.3e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000194350
AA Change: Y46C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142064
Gene: ENSMUSG00000076695
AA Change: Y46C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 2.4e-29 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 T A 2: 26,998,367 (GRCm39) C930* probably null Het
Ankar A T 1: 72,704,360 (GRCm39) V854E probably damaging Het
Ceacam3 T A 7: 16,895,767 (GRCm39) L579Q probably damaging Het
Clip2 G T 5: 134,545,748 (GRCm39) H314Q probably damaging Het
Fbxo28 A G 1: 182,144,583 (GRCm39) V327A possibly damaging Het
Gdap1 T A 1: 17,231,729 (GRCm39) F358Y probably benign Het
Ift70a2 T C 2: 75,808,479 (GRCm39) D11G possibly damaging Het
Il1rl2 T A 1: 40,404,472 (GRCm39) F531Y probably damaging Het
Irf6 A G 1: 192,844,906 (GRCm39) probably benign Het
Ncoa6 T C 2: 155,248,409 (GRCm39) T1632A probably damaging Het
Odad3 A G 9: 21,909,339 (GRCm39) probably null Het
Or4l1 T A 14: 50,166,165 (GRCm39) T279S probably damaging Het
Or5b3 T A 19: 13,388,792 (GRCm39) N286K probably damaging Het
Or8b43 A G 9: 38,360,197 (GRCm39) T10A probably benign Het
Osgepl1 C A 1: 53,360,271 (GRCm39) Y332* probably null Het
Pibf1 G A 14: 99,425,171 (GRCm39) A553T probably damaging Het
Prpf38b A G 3: 108,812,557 (GRCm39) F219L probably benign Het
Pwp1 C A 10: 85,718,768 (GRCm39) Q312K probably damaging Het
Rnf17 T C 14: 56,665,403 (GRCm39) V185A possibly damaging Het
Serpina3k T C 12: 104,306,780 (GRCm39) I4T possibly damaging Het
Slc33a1 A G 3: 63,871,178 (GRCm39) V145A probably damaging Het
Slco3a1 T C 7: 73,968,280 (GRCm39) D480G possibly damaging Het
Tdpoz4 G A 3: 93,704,144 (GRCm39) C147Y probably damaging Het
Tlr4 C A 4: 66,759,033 (GRCm39) P609T probably damaging Het
Trgv4 T A 13: 19,369,622 (GRCm39) I122K probably damaging Het
Unc79 A G 12: 103,054,936 (GRCm39) K927E probably damaging Het
Vmn1r71 G A 7: 10,482,571 (GRCm39) T39I possibly damaging Het
Vmn2r9 A G 5: 108,995,820 (GRCm39) L276P probably damaging Het
Zfp335 C A 2: 164,742,274 (GRCm39) R570L probably damaging Het
Other mutations in Ighv1-18
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4056:Ighv1-18 UTSW 12 114,646,287 (GRCm39) missense probably benign 0.26
R5766:Ighv1-18 UTSW 12 114,646,527 (GRCm39) missense probably damaging 1.00
R5801:Ighv1-18 UTSW 12 114,646,328 (GRCm39) missense probably damaging 1.00
R6387:Ighv1-18 UTSW 12 114,646,280 (GRCm39) missense probably damaging 0.98
R6981:Ighv1-18 UTSW 12 114,646,298 (GRCm39) missense probably damaging 1.00
R7703:Ighv1-18 UTSW 12 114,646,381 (GRCm39) missense probably benign 0.23
R7974:Ighv1-18 UTSW 12 114,646,669 (GRCm39) missense possibly damaging 0.49
R8486:Ighv1-18 UTSW 12 114,646,325 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02