Incidental Mutation 'IGL01630:Ighv1-24'
ID 92888
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-24
Ensembl Gene ENSMUSG00000094241
Gene Name immunoglobulin heavy variable V1-24
Synonyms immunoglobulin heavy variable V1-24, Ighv1-24
Accession Numbers
Essential gene? Probably essential (E-score: 0.832) question?
Stock # IGL01630
Quality Score
Status
Chromosome 12
Chromosomal Location 114736548-114736841 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 114736673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 76 (V76F)
Ref Sequence ENSEMBL: ENSMUSP00000142245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103509] [ENSMUST00000191861]
AlphaFold A0A075B5U9
Predicted Effect probably benign
Transcript: ENSMUST00000103509
AA Change: V57F

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100290
Gene: ENSMUSG00000094241
AA Change: V57F

DomainStartEndE-ValueType
IGv 17 98 2.16e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191861
AA Change: V76F

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142245
Gene: ENSMUSG00000094241
AA Change: V76F

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 8.9e-20 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,069,171 (GRCm39) T207A possibly damaging Het
Ak8 T A 2: 28,602,291 (GRCm39) M75K probably benign Het
Aldh1a7 A T 19: 20,673,693 (GRCm39) probably benign Het
Ankrd34c G A 9: 89,611,879 (GRCm39) T154I probably damaging Het
Arrb2 A G 11: 70,327,697 (GRCm39) I120M probably damaging Het
Atp2a1 A G 7: 126,049,437 (GRCm39) V535A probably benign Het
Cckbr G T 7: 105,083,293 (GRCm39) W165C probably damaging Het
Col12a1 A T 9: 79,564,648 (GRCm39) H1677Q probably damaging Het
Fancd2 T C 6: 113,540,085 (GRCm39) F658S probably damaging Het
Gm5581 A T 6: 131,145,259 (GRCm39) noncoding transcript Het
H2-M3 A G 17: 37,581,548 (GRCm39) E70G possibly damaging Het
Hltf A G 3: 20,137,068 (GRCm39) probably benign Het
Igkv1-110 A T 6: 68,248,145 (GRCm39) R85W probably damaging Het
Kif9 A C 9: 110,314,138 (GRCm39) R43S probably benign Het
Klf11 T C 12: 24,710,368 (GRCm39) I472T probably benign Het
Napsa A G 7: 44,236,089 (GRCm39) Y376C probably damaging Het
Notch2 C T 3: 98,053,934 (GRCm39) A2199V possibly damaging Het
Or10a5 A T 7: 106,636,318 (GRCm39) probably benign Het
Or1e30 A G 11: 73,678,687 (GRCm39) K308E probably benign Het
Pcnt T A 10: 76,256,080 (GRCm39) D720V probably damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Ptk6 T C 2: 180,838,859 (GRCm39) E298G probably damaging Het
Rbm27 T A 18: 42,434,905 (GRCm39) L323H probably damaging Het
Sall3 A G 18: 81,014,484 (GRCm39) L1076P probably benign Het
Sprr2h A G 3: 92,294,258 (GRCm39) N35S unknown Het
Susd1 T C 4: 59,365,817 (GRCm39) D412G possibly damaging Het
Ugdh T A 5: 65,574,248 (GRCm39) M432L probably benign Het
Uggt2 C T 14: 119,280,184 (GRCm39) V765I probably benign Het
Unc13d T C 11: 115,964,692 (GRCm39) Q258R probably benign Het
Wdfy3 A T 5: 102,055,354 (GRCm39) F1572Y probably benign Het
Xpo1 A G 11: 23,235,846 (GRCm39) T645A probably benign Het
Zer1 A G 2: 29,991,843 (GRCm39) V659A probably damaging Het
Other mutations in Ighv1-24
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4581001:Ighv1-24 UTSW 12 114,736,803 (GRCm39) missense probably benign
R2892:Ighv1-24 UTSW 12 114,736,679 (GRCm39) missense probably benign 0.08
R3687:Ighv1-24 UTSW 12 114,736,700 (GRCm39) missense probably damaging 1.00
R3811:Ighv1-24 UTSW 12 114,736,685 (GRCm39) missense probably benign 0.33
R5071:Ighv1-24 UTSW 12 114,736,748 (GRCm39) missense probably benign 0.17
R6880:Ighv1-24 UTSW 12 114,736,663 (GRCm39) missense possibly damaging 0.85
R9052:Ighv1-24 UTSW 12 114,736,555 (GRCm39) missense probably damaging 1.00
R9254:Ighv1-24 UTSW 12 114,736,663 (GRCm39) missense possibly damaging 0.85
R9379:Ighv1-24 UTSW 12 114,736,663 (GRCm39) missense possibly damaging 0.85
Posted On 2013-12-09