Incidental Mutation 'IGL01392:Ighv1-54'
ID79240
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-54
Ensembl Gene ENSMUSG00000094787
Gene Nameimmunoglobulin heavy variable V1-54
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.277) question?
Stock #IGL01392
Quality Score
Status
Chromosome12
Chromosomal Location115193675-115194134 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115193937 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 30 (L30P)
Ref Sequence ENSEMBL: ENSMUSP00000100306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103525]
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: 58,500,546 V2A probably benign Het
Adgrf5 A T 17: 43,450,012 Q866L probably benign Het
Ankrd13a A G 5: 114,797,853 E295G probably benign Het
Arid1a T C 4: 133,681,037 D2053G unknown Het
Calr4 A G 4: 109,253,874 E272G probably benign Het
Cmya5 T C 13: 93,089,206 S3125G probably damaging Het
Dnah7b T C 1: 46,126,788 Y538H probably damaging Het
Eri3 T C 4: 117,589,159 probably null Het
Fmo6 T A 1: 162,930,011 R63* probably null Het
Gm7168 G A 17: 13,948,907 D179N probably benign Het
Gm8979 T C 7: 106,083,755 I98V probably benign Het
Got1l1 T C 8: 27,197,991 T337A probably damaging Het
Igf2r A G 17: 12,704,349 M1191T probably benign Het
Igkv8-30 A G 6: 70,117,347 S27P probably benign Het
Kcnab2 A T 4: 152,393,797 V335E possibly damaging Het
Klf12 A T 14: 100,149,757 I3N probably damaging Het
Megf8 T C 7: 25,363,749 V2510A probably benign Het
Mme A G 3: 63,362,046 D592G probably damaging Het
Myh1 A G 11: 67,221,301 N1727S probably benign Het
Ncor1 A G 11: 62,340,594 S796P probably damaging Het
Nlrp14 A G 7: 107,197,913 probably benign Het
Olfr1443 T A 19: 12,680,803 Y232N probably benign Het
Olfr508 C T 7: 108,630,678 R229C probably benign Het
Olfr564 T A 7: 102,803,854 Y125* probably null Het
Plekhm2 A G 4: 141,642,426 V86A probably damaging Het
Popdc2 G T 16: 38,374,131 V305L probably benign Het
Prpmp5 T C 6: 132,312,420 N147S unknown Het
Rttn C T 18: 88,995,613 H469Y probably benign Het
Slc2a12 T C 10: 22,664,684 V146A probably damaging Het
Sptlc3 A G 2: 139,546,421 E111G possibly damaging Het
Zfp108 T C 7: 24,258,447 probably benign Het
Zfp719 T A 7: 43,591,130 F714Y probably damaging Het
Other mutations in Ighv1-54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02195:Ighv1-54 APN 12 115193950 missense possibly damaging 0.75
IGL02561:Ighv1-54 APN 12 115193769 missense probably benign 0.22
IGL03084:Ighv1-54 APN 12 115194116 utr 5 prime probably benign
R3035:Ighv1-54 UTSW 12 115193977 missense probably damaging 0.99
R3767:Ighv1-54 UTSW 12 115193976 missense possibly damaging 0.92
R4856:Ighv1-54 UTSW 12 115193803 missense probably damaging 1.00
R4948:Ighv1-54 UTSW 12 115193818 missense probably benign 0.35
R6091:Ighv1-54 UTSW 12 115193877 missense probably benign 0.00
Posted On2013-11-05