Incidental Mutation 'IGL01577:Ighv1-72'
ID91278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-72
Ensembl Gene ENSMUSG00000096074
Gene Nameimmunoglobulin heavy variable 1-72
SynonymsGm16709
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.217) question?
Stock #IGL01577
Quality Score
Status
Chromosome12
Chromosomal Location115757984-115758277 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115758273 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 21 (V21A)
Ref Sequence ENSEMBL: ENSMUSP00000100322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103541]
Predicted Effect possibly damaging
Transcript: ENSMUST00000103541
AA Change: V21A

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000100322
Gene: ENSMUSG00000096074
AA Change: V21A

DomainStartEndE-ValueType
IGv 36 117 8.67e-31 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,987,275 T279A probably benign Het
Adamts9 T G 6: 92,858,147 probably benign Het
Apba3 G A 10: 81,272,219 G403D probably damaging Het
Atp13a4 C T 16: 29,441,284 V235I possibly damaging Het
Brca2 T A 5: 150,541,620 C1616* probably null Het
Ccdc7a T A 8: 128,988,763 E280V probably damaging Het
Cdc42bpb A G 12: 111,302,043 I1241T possibly damaging Het
Cplx4 G T 18: 65,969,944 A35E probably damaging Het
Cyp2j8 T G 4: 96,479,071 D270A probably damaging Het
Cyp7a1 T C 4: 6,273,618 D96G probably damaging Het
Ddx11 G A 17: 66,139,403 R429H possibly damaging Het
Depdc5 C A 5: 32,955,897 T419N possibly damaging Het
Diaph3 A C 14: 86,906,031 I737R probably damaging Het
Elf2 C T 3: 51,256,352 probably benign Het
Epha6 T A 16: 59,956,926 I673L possibly damaging Het
Ephx1 A G 1: 181,001,980 M1T probably null Het
Fndc3a A T 14: 72,589,858 M84K probably damaging Het
Gad2 T C 2: 22,681,280 probably benign Het
Gba2 G A 4: 43,573,753 Q180* probably null Het
Gga2 A G 7: 121,989,783 Y574H probably damaging Het
Gm7168 A T 17: 13,949,387 R339W probably damaging Het
Hdac10 T C 15: 89,126,213 E302G possibly damaging Het
Kif15 A G 9: 122,996,334 E774G probably benign Het
Lig3 A G 11: 82,783,477 N43S probably benign Het
Nmnat1 T A 4: 149,469,678 D135V possibly damaging Het
Olfr1496 A G 19: 13,780,798 Y62C probably damaging Het
Olfr666 A G 7: 104,893,523 F35S probably benign Het
Pak6 A C 2: 118,693,648 K428T probably benign Het
Pou2f3 G A 9: 43,146,881 Q56* probably null Het
Prep T C 10: 45,072,048 probably benign Het
Psd4 C T 2: 24,403,222 P700S probably damaging Het
Rad18 A T 6: 112,665,341 probably benign Het
Rbbp5 A G 1: 132,492,655 K209E possibly damaging Het
Smurf1 G A 5: 144,893,188 T335I probably damaging Het
Tbcd G A 11: 121,497,012 R72Q probably damaging Het
Tsga10 T C 1: 37,835,457 T116A possibly damaging Het
Unc80 A G 1: 66,529,968 probably null Het
Vmn1r87 C A 7: 13,131,848 V171F probably benign Het
Ythdc2 A T 18: 44,858,282 M786L probably benign Het
Zmym6 C A 4: 127,105,430 T469K probably damaging Het
Other mutations in Ighv1-72
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4472001:Ighv1-72 UTSW 12 115758000 missense probably damaging 1.00
R3777:Ighv1-72 UTSW 12 115758016 missense probably damaging 0.99
R3778:Ighv1-72 UTSW 12 115758016 missense probably damaging 0.99
R3779:Ighv1-72 UTSW 12 115758016 missense probably damaging 0.99
R4154:Ighv1-72 UTSW 12 115758397 missense probably benign 0.02
R6023:Ighv1-72 UTSW 12 115757912 unclassified probably benign
R6281:Ighv1-72 UTSW 12 115758403 missense probably benign
R7400:Ighv1-72 UTSW 12 115758217 missense probably damaging 0.99
Z1177:Ighv1-72 UTSW 12 115758201 missense probably damaging 0.98
Posted On2013-12-09