Incidental Mutation 'IGL01954:Ighv1-80'
ID 181359
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-80
Ensembl Gene ENSMUSG00000094075
Gene Name immunoglobulin heavy variable 1-80
Synonyms Gm16814
Accession Numbers
Essential gene? Possibly essential (E-score: 0.626) question?
Stock # IGL01954
Quality Score
Status
Chromosome 12
Chromosomal Location 115875964-115876257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115876253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 21 (V21D)
Ref Sequence ENSEMBL: ENSMUSP00000100328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103547]
AlphaFold A0A075B5Y3
Predicted Effect probably benign
Transcript: ENSMUST00000103547
AA Change: V21D

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000100328
Gene: ENSMUSG00000094075
AA Change: V21D

DomainStartEndE-ValueType
low complexity region 15 28 N/A INTRINSIC
IGv 36 117 4.9e-30 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A T 4: 144,396,741 (GRCm39) D330E probably damaging Het
Acsm3 T C 7: 119,374,306 (GRCm39) probably benign Het
Ankrd26 T A 6: 118,535,966 (GRCm39) Y156F possibly damaging Het
Bcr G A 10: 75,011,173 (GRCm39) probably null Het
Cpn2 C T 16: 30,079,138 (GRCm39) A188T probably benign Het
Ctdsp1 T C 1: 74,433,242 (GRCm39) probably benign Het
Cts7 T A 13: 61,500,637 (GRCm39) R303S probably benign Het
Dock7 T C 4: 98,971,388 (GRCm39) D59G probably damaging Het
Garre1 A T 7: 33,944,460 (GRCm39) W91R probably damaging Het
Gpr149 T C 3: 62,438,348 (GRCm39) N603S probably benign Het
Gucy2g A G 19: 55,187,123 (GRCm39) I1099T probably benign Het
Gzf1 G A 2: 148,525,981 (GRCm39) A151T probably benign Het
Klhl18 T C 9: 110,257,934 (GRCm39) Y432C probably damaging Het
Lama4 A G 10: 38,963,295 (GRCm39) D1289G probably benign Het
Mab21l4 T A 1: 93,079,794 (GRCm39) D432V probably damaging Het
Mcm7 T C 5: 138,165,507 (GRCm39) T466A probably damaging Het
Megf8 A G 7: 25,048,439 (GRCm39) E1704G possibly damaging Het
Mettl25 C T 10: 105,659,068 (GRCm39) C405Y probably damaging Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Ndc1 T A 4: 107,253,001 (GRCm39) I590N probably damaging Het
Npnt G T 3: 132,615,724 (GRCm39) N137K probably damaging Het
Numa1 C T 7: 101,645,300 (GRCm39) R309* probably null Het
Ogfod3 G A 11: 121,093,851 (GRCm39) T53I probably benign Het
Or11i1 A G 3: 106,729,311 (GRCm39) I188T possibly damaging Het
Or5v1 C A 17: 37,809,540 (GRCm39) probably benign Het
Pcdhb9 G T 18: 37,534,794 (GRCm39) V263F probably damaging Het
Pld4 T C 12: 112,734,355 (GRCm39) probably null Het
Ppp2r3c A G 12: 55,339,353 (GRCm39) L170P probably damaging Het
Prex2 T A 1: 11,210,235 (GRCm39) D558E possibly damaging Het
Rasal2 A G 1: 157,005,269 (GRCm39) S227P possibly damaging Het
Rasal2 A T 1: 157,003,686 (GRCm39) D324E probably damaging Het
Rcbtb1 A G 14: 59,467,416 (GRCm39) Y418C probably damaging Het
Rhag T C 17: 41,139,341 (GRCm39) F92S possibly damaging Het
Scel T C 14: 103,840,678 (GRCm39) probably benign Het
Serinc5 A G 13: 92,819,441 (GRCm39) N125S probably damaging Het
Sgpl1 A T 10: 60,936,672 (GRCm39) M561K probably benign Het
Sostdc1 T C 12: 36,367,121 (GRCm39) V99A probably damaging Het
Them6 A G 15: 74,593,538 (GRCm39) Y132C probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r27 A T 6: 124,169,207 (GRCm39) F641Y probably damaging Het
Vps13c A G 9: 67,876,580 (GRCm39) Y3384C probably damaging Het
Zbtb32 G T 7: 30,289,353 (GRCm39) probably null Het
Other mutations in Ighv1-80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02542:Ighv1-80 APN 12 115,876,199 (GRCm39) missense probably damaging 1.00
R6317:Ighv1-80 UTSW 12 115,876,265 (GRCm39) missense probably damaging 1.00
R8939:Ighv1-80 UTSW 12 115,876,113 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07