Incidental Mutation 'IGL01392:Ighv1-54'
ID 79240
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-54
Ensembl Gene ENSMUSG00000094787
Gene Name immunoglobulin heavy variable V1-54
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # IGL01392
Quality Score
Status
Chromosome 12
Chromosomal Location 115157295-115157588 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115157557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 30 (L30P)
Ref Sequence ENSEMBL: ENSMUSP00000100306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103525]
AlphaFold A0A075B5W5
Predicted Effect probably damaging
Transcript: ENSMUST00000103525
AA Change: L30P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100306
Gene: ENSMUSG00000094787
AA Change: L30P

DomainStartEndE-ValueType
IGv 36 117 1.09e-27 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,390,558 (GRCm39) V2A probably benign Het
Adgrf5 A T 17: 43,760,903 (GRCm39) Q866L probably benign Het
Ankrd13a A G 5: 114,935,914 (GRCm39) E295G probably benign Het
Arid1a T C 4: 133,408,348 (GRCm39) D2053G unknown Het
Calr4 A G 4: 109,111,071 (GRCm39) E272G probably benign Het
Cmya5 T C 13: 93,225,714 (GRCm39) S3125G probably damaging Het
Dnah7b T C 1: 46,165,948 (GRCm39) Y538H probably damaging Het
Eri3 T C 4: 117,446,356 (GRCm39) probably null Het
Fmo6 T A 1: 162,757,580 (GRCm39) R63* probably null Het
Gm7168 G A 17: 14,169,169 (GRCm39) D179N probably benign Het
Got1l1 T C 8: 27,688,019 (GRCm39) T337A probably damaging Het
Gvin-ps3 T C 7: 105,682,962 (GRCm39) I98V probably benign Het
Igf2r A G 17: 12,923,236 (GRCm39) M1191T probably benign Het
Igkv8-30 A G 6: 70,094,331 (GRCm39) S27P probably benign Het
Kcnab2 A T 4: 152,478,254 (GRCm39) V335E possibly damaging Het
Klf12 A T 14: 100,387,193 (GRCm39) I3N probably damaging Het
Megf8 T C 7: 25,063,174 (GRCm39) V2510A probably benign Het
Mme A G 3: 63,269,467 (GRCm39) D592G probably damaging Het
Myh1 A G 11: 67,112,127 (GRCm39) N1727S probably benign Het
Ncor1 A G 11: 62,231,420 (GRCm39) S796P probably damaging Het
Nlrp14 A G 7: 106,797,120 (GRCm39) probably benign Het
Or51f23 T A 7: 102,453,061 (GRCm39) Y125* probably null Het
Or5b95 T A 19: 12,658,167 (GRCm39) Y232N probably benign Het
Or5p80 C T 7: 108,229,885 (GRCm39) R229C probably benign Het
Plekhm2 A G 4: 141,369,737 (GRCm39) V86A probably damaging Het
Popdc2 G T 16: 38,194,493 (GRCm39) V305L probably benign Het
Prb1b T C 6: 132,289,383 (GRCm39) N147S unknown Het
Rttn C T 18: 89,013,737 (GRCm39) H469Y probably benign Het
Slc2a12 T C 10: 22,540,583 (GRCm39) V146A probably damaging Het
Sptlc3 A G 2: 139,388,341 (GRCm39) E111G possibly damaging Het
Zfp108 T C 7: 23,957,872 (GRCm39) probably benign Het
Zfp719 T A 7: 43,240,554 (GRCm39) F714Y probably damaging Het
Other mutations in Ighv1-54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02195:Ighv1-54 APN 12 115,157,570 (GRCm39) missense possibly damaging 0.75
IGL02561:Ighv1-54 APN 12 115,157,389 (GRCm39) missense probably benign 0.22
IGL03084:Ighv1-54 APN 12 115,157,736 (GRCm39) utr 5 prime probably benign
R3035:Ighv1-54 UTSW 12 115,157,597 (GRCm39) missense probably damaging 0.99
R3767:Ighv1-54 UTSW 12 115,157,596 (GRCm39) missense possibly damaging 0.92
R4856:Ighv1-54 UTSW 12 115,157,423 (GRCm39) missense probably damaging 1.00
R4948:Ighv1-54 UTSW 12 115,157,438 (GRCm39) missense probably benign 0.35
R6091:Ighv1-54 UTSW 12 115,157,497 (GRCm39) missense probably benign 0.00
R7843:Ighv1-54 UTSW 12 115,157,483 (GRCm39) missense probably damaging 1.00
R9045:Ighv1-54 UTSW 12 115,157,500 (GRCm39) missense probably benign 0.35
Posted On 2013-11-05