Incidental Mutation 'IGL03334:Ighv2-9-1'
ID 416950
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv2-9-1
Ensembl Gene ENSMUSG00000095565
Gene Name immunoglobulin heavy variable 2-9-1
Synonyms Gm16595
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL03334
Quality Score
Status
Chromosome 12
Chromosomal Location 113733477-113733762 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113733543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 93 (S93P)
Ref Sequence ENSEMBL: ENSMUSP00000136606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000180013]
AlphaFold A0A075B697
Predicted Effect probably benign
Transcript: ENSMUST00000180013
AA Change: S93P

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000136606
Gene: ENSMUSG00000095565
AA Change: S93P

DomainStartEndE-ValueType
IGv 36 116 2.17e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193757
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,838,302 (GRCm39) F762L probably benign Het
Angpt1 T A 15: 42,359,808 (GRCm39) E208V possibly damaging Het
Arhgef18 A T 8: 3,438,023 (GRCm39) I286F probably benign Het
Arhgef5 T C 6: 43,250,934 (GRCm39) S562P possibly damaging Het
Asb6 T C 2: 30,714,496 (GRCm39) T205A probably benign Het
B4galnt4 G A 7: 140,647,354 (GRCm39) probably null Het
Clca4a A T 3: 144,659,627 (GRCm39) M743K probably benign Het
Col14a1 T C 15: 55,312,217 (GRCm39) probably benign Het
Col27a1 A T 4: 63,232,959 (GRCm39) Y359F probably damaging Het
Dhcr7 T A 7: 143,394,234 (GRCm39) V125D possibly damaging Het
Ercc3 T C 18: 32,373,890 (GRCm39) probably null Het
Fnbp1l A G 3: 122,351,598 (GRCm39) V315A probably benign Het
Gm17174 T A 14: 51,829,420 (GRCm39) R48* probably null Het
Golga4 C T 9: 118,366,301 (GRCm39) probably benign Het
Grin1 C T 2: 25,188,405 (GRCm39) probably null Het
Ifi203 T A 1: 173,765,401 (GRCm39) K58* probably null Het
Il27ra A G 8: 84,757,751 (GRCm39) V594A probably benign Het
Krr1 T G 10: 111,815,959 (GRCm39) S275R probably benign Het
Lars1 T C 18: 42,354,571 (GRCm39) D792G probably benign Het
Myo1f G A 17: 33,817,168 (GRCm39) R737H probably damaging Het
Nebl T A 2: 17,418,522 (GRCm39) H292L probably damaging Het
Nell1 C A 7: 49,712,359 (GRCm39) probably null Het
Nktr T C 9: 121,577,242 (GRCm39) F412L probably benign Het
Nlrp3 T A 11: 59,439,842 (GRCm39) I473N probably damaging Het
Or1j10 T C 2: 36,267,063 (GRCm39) Y92H possibly damaging Het
Phf3 A G 1: 30,844,810 (GRCm39) V1383A probably damaging Het
Prss48 T C 3: 85,904,625 (GRCm39) E191G probably damaging Het
Psg25 T A 7: 18,263,699 (GRCm39) L41F probably benign Het
Sema3b A G 9: 107,481,276 (GRCm39) L78P probably damaging Het
Spen G T 4: 141,197,280 (GRCm39) N3496K probably damaging Het
Tbk1 A T 10: 121,420,104 (GRCm39) H28Q possibly damaging Het
Trpv3 T A 11: 73,172,491 (GRCm39) probably benign Het
Vmn1r218 T C 13: 23,320,788 (GRCm39) L45P probably damaging Het
Vmn2r35 T A 7: 7,789,493 (GRCm39) Y748F probably damaging Het
Vps18 C T 2: 119,127,963 (GRCm39) R929W probably damaging Het
Xpnpep1 T C 19: 52,998,577 (GRCm39) K224E probably damaging Het
Zbed5 T A 5: 129,931,196 (GRCm39) F382I possibly damaging Het
Other mutations in Ighv2-9-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01753:Ighv2-9-1 APN 12 113,733,548 (GRCm39) missense probably damaging 1.00
IGL02416:Ighv2-9-1 APN 12 113,733,731 (GRCm39) missense probably damaging 1.00
IGL03282:Ighv2-9-1 APN 12 113,733,485 (GRCm39) missense probably damaging 1.00
R6932:Ighv2-9-1 UTSW 12 113,733,692 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02