Incidental Mutation 'IGL01150:Ighv8-5'
ID 52512
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv8-5
Ensembl Gene ENSMUSG00000102364
Gene Name immunoglobulin heavy variable V8-5
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # IGL01150
Quality Score
Status
Chromosome 12
Chromosomal Location 115031180-115031480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115031194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 115 (Y115C)
Ref Sequence ENSEMBL: ENSMUSP00000142292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000194257]
AlphaFold A0A0A6YY60
Predicted Effect probably damaging
Transcript: ENSMUST00000194257
AA Change: Y115C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142292
Gene: ENSMUSG00000102364
AA Change: Y115C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 118 8.6e-31 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,752,550 (GRCm39) D507G possibly damaging Het
Actl6a A G 3: 32,766,313 (GRCm39) I60V probably benign Het
Adra2c T C 5: 35,438,485 (GRCm39) F419S probably damaging Het
Afap1l2 T C 19: 56,918,618 (GRCm39) Y105C probably damaging Het
Arid4b C T 13: 14,369,959 (GRCm39) Q1152* probably null Het
Arsj A G 3: 126,232,433 (GRCm39) D393G probably benign Het
Avp T C 2: 130,422,593 (GRCm39) probably benign Het
Cacna2d3 C T 14: 28,905,598 (GRCm39) V390I possibly damaging Het
Ccdc25 T A 14: 66,097,651 (GRCm39) M195K possibly damaging Het
Cdhr2 T A 13: 54,878,931 (GRCm39) S979T probably benign Het
Cog2 T C 8: 125,269,630 (GRCm39) F390S possibly damaging Het
Dennd5b A G 6: 148,969,583 (GRCm39) V290A probably benign Het
Ebf1 T C 11: 44,759,927 (GRCm39) L188P probably damaging Het
Galt T C 4: 41,757,786 (GRCm39) probably benign Het
Gm12830 C T 4: 114,702,261 (GRCm39) T141I unknown Het
Herc2 T A 7: 55,830,881 (GRCm39) W2965R probably damaging Het
Hrg A G 16: 22,777,909 (GRCm39) probably null Het
Igkv12-89 A G 6: 68,812,127 (GRCm39) V14A probably benign Het
Nav2 A C 7: 49,102,269 (GRCm39) T295P probably benign Het
Niban1 T C 1: 151,593,472 (GRCm39) V719A probably benign Het
Nrg1 G A 8: 32,407,903 (GRCm39) T110I probably damaging Het
Or4c31 T C 2: 88,292,419 (GRCm39) V264A possibly damaging Het
Or51h1 A C 7: 102,308,699 (GRCm39) K224Q probably benign Het
Or7g29 A T 9: 19,286,535 (GRCm39) I214N probably damaging Het
Pclo T C 5: 14,726,926 (GRCm39) probably benign Het
Polg2 T C 11: 106,668,258 (GRCm39) probably null Het
Ptges G T 2: 30,782,720 (GRCm39) R111S probably damaging Het
Rbbp4 T C 4: 129,216,668 (GRCm39) probably benign Het
Rundc3a T C 11: 102,284,602 (GRCm39) V34A probably benign Het
Scn3a C A 2: 65,327,709 (GRCm39) probably null Het
Sec14l3 T C 11: 4,026,238 (GRCm39) probably benign Het
Strip1 C T 3: 107,534,047 (GRCm39) probably null Het
Svep1 T A 4: 58,070,302 (GRCm39) I2495F probably benign Het
Syne1 A G 10: 5,393,154 (GRCm39) S71P probably damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tmem161b C T 13: 84,440,526 (GRCm39) R133* probably null Het
Tnnc2 A T 2: 164,619,753 (GRCm39) I71N probably damaging Het
Vps13d T C 4: 144,875,845 (GRCm39) N1554S probably benign Het
Wfdc3 A T 2: 164,574,123 (GRCm39) probably benign Het
Zfp648 A T 1: 154,081,110 (GRCm39) H423L probably damaging Het
Other mutations in Ighv8-5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0039:Ighv8-5 UTSW 12 115,031,207 (GRCm39) missense possibly damaging 0.49
R2443:Ighv8-5 UTSW 12 115,031,440 (GRCm39) missense probably damaging 1.00
R4910:Ighv8-5 UTSW 12 115,031,462 (GRCm39) missense probably damaging 1.00
R7827:Ighv8-5 UTSW 12 115,031,258 (GRCm39) missense possibly damaging 0.78
R8464:Ighv8-5 UTSW 12 115,031,309 (GRCm39) missense probably benign 0.00
R8477:Ighv8-5 UTSW 12 115,031,200 (GRCm39) missense probably benign 0.02
R8823:Ighv8-5 UTSW 12 115,031,267 (GRCm39) missense probably damaging 1.00
R9655:Ighv8-5 UTSW 12 115,031,416 (GRCm39) missense probably damaging 0.96
R9784:Ighv8-5 UTSW 12 115,031,228 (GRCm39) missense probably benign 0.03
Posted On 2013-06-21