Incidental Mutation 'IGL02555:Ighv5-15'
ID 298468
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv5-15
Ensembl Gene ENSMUSG00000094134
Gene Name immunoglobulin heavy variable 5-15
Synonyms Gm16888
Accession Numbers
Essential gene? Probably non essential (E-score: 0.195) question?
Stock # IGL02555
Quality Score
Status
Chromosome 12
Chromosomal Location 113790268-113790561 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113790735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 3 (F3L)
Ref Sequence ENSEMBL: ENSMUSP00000141493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103457] [ENSMUST00000192877]
AlphaFold A0A075B5Q9
Predicted Effect probably benign
Transcript: ENSMUST00000103457
AA Change: F3L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100238
Gene: ENSMUSG00000094134
AA Change: F3L

DomainStartEndE-ValueType
IGv 35 116 2.17e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192877
AA Change: F3L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141493
Gene: ENSMUSG00000094134
AA Change: F3L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 9e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195115
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b G A 1: 36,740,828 (GRCm39) R199C probably damaging Het
Adam34l A T 8: 44,078,305 (GRCm39) C640S probably damaging Het
Adam9 T C 8: 25,456,752 (GRCm39) N661D probably damaging Het
Amy1 C T 3: 113,358,541 (GRCm39) E164K probably benign Het
Arid5b A C 10: 67,937,734 (GRCm39) D221E probably benign Het
B3galt1 G T 2: 67,948,905 (GRCm39) V207F probably benign Het
Begain A G 12: 109,000,115 (GRCm39) S219P probably damaging Het
Clip1 A G 5: 123,759,857 (GRCm39) probably null Het
Cps1 A G 1: 67,253,180 (GRCm39) K1224R probably benign Het
Dnm1 A G 2: 32,218,050 (GRCm39) Y449H probably damaging Het
Epas1 A T 17: 87,136,492 (GRCm39) M755L probably benign Het
F13b T C 1: 139,444,924 (GRCm39) C525R probably damaging Het
Fmnl2 A G 2: 53,016,863 (GRCm39) probably null Het
Inpp4a A G 1: 37,419,049 (GRCm39) Q538R possibly damaging Het
Insrr A T 3: 87,721,124 (GRCm39) M1092L probably damaging Het
Itgb8 C T 12: 119,153,616 (GRCm39) V300M probably damaging Het
Kcnk5 A T 14: 20,192,053 (GRCm39) H369Q probably benign Het
Ly6m G T 15: 74,753,457 (GRCm39) probably benign Het
Or1m1 T A 9: 18,666,769 (GRCm39) H54L probably benign Het
Or4a76 G A 2: 89,460,547 (GRCm39) R232C probably damaging Het
Or4k44 A G 2: 111,368,262 (GRCm39) V124A probably damaging Het
Or5m10 G A 2: 85,717,742 (GRCm39) M199I probably benign Het
Plxdc2 A G 2: 16,734,152 (GRCm39) I417M probably benign Het
Polr1a G A 6: 71,897,441 (GRCm39) E186K probably damaging Het
Ppp3cb A T 14: 20,581,021 (GRCm39) F134L probably damaging Het
Prox2 C T 12: 85,142,034 (GRCm39) W56* probably null Het
Scaf4 C T 16: 90,047,193 (GRCm39) A395T unknown Het
Sh3tc2 G T 18: 62,123,308 (GRCm39) A690S probably damaging Het
Slc34a1 T C 13: 55,548,981 (GRCm39) S144P possibly damaging Het
Slc6a6 C T 6: 91,725,311 (GRCm39) probably benign Het
Tubgcp3 A T 8: 12,689,595 (GRCm39) M557K probably benign Het
Vmn2r103 A T 17: 20,031,873 (GRCm39) D549V probably damaging Het
Washc2 T A 6: 116,186,061 (GRCm39) N90K probably damaging Het
Other mutations in Ighv5-15
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7152:Ighv5-15 UTSW 12 113,790,317 (GRCm39) missense probably benign 0.08
R9329:Ighv5-15 UTSW 12 113,790,395 (GRCm39) missense probably benign 0.00
R9372:Ighv5-15 UTSW 12 113,790,357 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16