Incidental Mutation 'IGL02194:Ighv15-2'
ID 283989
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv15-2
Ensembl Gene ENSMUSG00000076688
Gene Name immunoglobulin heavy variable V15-2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # IGL02194
Quality Score
Status
Chromosome 12
Chromosomal Location 114528198-114528494 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114528341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 70 (I70V)
Ref Sequence ENSEMBL: ENSMUSP00000100278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103497] [ENSMUST00000195337]
AlphaFold A0A075B5T8
Predicted Effect probably damaging
Transcript: ENSMUST00000103497
AA Change: I70V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100278
Gene: ENSMUSG00000076688
AA Change: I70V

DomainStartEndE-ValueType
IGv 35 117 3.29e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000195337
AA Change: I71V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141867
Gene: ENSMUSG00000076688
AA Change: I71V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 118 1.3e-24 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G A 14: 54,828,812 (GRCm39) Q230* probably null Het
Akap5 C T 12: 76,374,807 (GRCm39) P80S probably damaging Het
Akap6 T A 12: 52,933,606 (GRCm39) M366K probably benign Het
Ankef1 T A 2: 136,392,429 (GRCm39) D539E probably benign Het
Anxa11 A G 14: 25,870,553 (GRCm39) D39G unknown Het
Atp13a4 G T 16: 29,275,447 (GRCm39) H346N probably damaging Het
Btnl1 A C 17: 34,598,509 (GRCm39) T42P possibly damaging Het
Cul3 T A 1: 80,300,754 (GRCm39) Y29F probably benign Het
Dcun1d4 A G 5: 73,638,544 (GRCm39) probably benign Het
Det1 A T 7: 78,489,912 (GRCm39) V371E probably benign Het
Duoxa2 C A 2: 122,132,330 (GRCm39) A248D possibly damaging Het
Ehbp1l1 A T 19: 5,768,885 (GRCm39) I806K probably benign Het
Fam76b G T 9: 13,744,274 (GRCm39) G124W probably damaging Het
Fhl5 T C 4: 25,211,341 (GRCm39) E117G probably benign Het
Iqca1 T C 1: 89,973,385 (GRCm39) T768A probably benign Het
Itih1 A C 14: 30,652,322 (GRCm39) D786E probably benign Het
Krt15 A G 11: 100,022,839 (GRCm39) probably benign Het
Lgals9 T A 11: 78,857,746 (GRCm39) probably null Het
Map3k4 G T 17: 12,467,882 (GRCm39) Q1051K probably benign Het
Map3k4 G T 17: 12,482,815 (GRCm39) P634H probably damaging Het
Mettl21e T C 1: 44,250,343 (GRCm39) D21G probably benign Het
Mre11a T C 9: 14,726,505 (GRCm39) S423P possibly damaging Het
Mzf1 T A 7: 12,777,647 (GRCm39) T665S possibly damaging Het
Or4c111 T C 2: 88,844,231 (GRCm39) Y59C probably damaging Het
Or7c19 T A 8: 85,957,262 (GRCm39) I46N possibly damaging Het
Otx2 A T 14: 48,898,850 (GRCm39) V52D possibly damaging Het
Rnf157 C T 11: 116,237,858 (GRCm39) probably null Het
Ssxa1 T A X: 20,987,394 (GRCm39) I115N unknown Het
Ube2q2l T C 6: 136,378,056 (GRCm39) Q258R probably benign Het
Other mutations in Ighv15-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Ighv15-2 APN 12 114,528,490 (GRCm39) missense possibly damaging 0.94
R0134:Ighv15-2 UTSW 12 114,528,657 (GRCm39) unclassified probably benign
R0225:Ighv15-2 UTSW 12 114,528,657 (GRCm39) unclassified probably benign
R4580:Ighv15-2 UTSW 12 114,528,590 (GRCm39) missense probably benign 0.21
R4745:Ighv15-2 UTSW 12 114,528,230 (GRCm39) missense probably damaging 1.00
R4781:Ighv15-2 UTSW 12 114,528,476 (GRCm39) missense probably damaging 1.00
R7153:Ighv15-2 UTSW 12 114,528,210 (GRCm39) nonsense probably null
R7976:Ighv15-2 UTSW 12 114,528,470 (GRCm39) missense probably benign 0.01
Z1088:Ighv15-2 UTSW 12 114,528,424 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16