Incidental Mutation 'IGL01928:Ighv1-47'
ID180341
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-47
Ensembl Gene ENSMUSG00000076709
Gene Nameimmunoglobulin heavy variable 1-47
SynonymsGm16966
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01928
Quality Score
Status
Chromosome12
Chromosomal Location114991108-114991580 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 114991293 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 56 (M56L)
Ref Sequence ENSEMBL: ENSMUSP00000142265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103518] [ENSMUST00000194865]
Predicted Effect probably benign
Transcript: ENSMUST00000103518
AA Change: M37L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100299
Gene: ENSMUSG00000076709
AA Change: M37L

DomainStartEndE-ValueType
IGv 17 98 2.53e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194865
AA Change: M56L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142265
Gene: ENSMUSG00000076709
AA Change: M56L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 1e-25 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,683,342 T5024S probably benign Het
Adam23 C A 1: 63,557,446 N562K probably damaging Het
Brd9 G A 13: 73,955,511 M503I probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cyp2j8 A T 4: 96,470,476 probably benign Het
Erich6 T C 3: 58,621,271 I519M probably damaging Het
Fscn3 A G 6: 28,430,182 E117G possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm45234 A G 6: 124,745,004 probably benign Het
Klf4 A G 4: 55,530,949 L45P probably benign Het
Ksr1 A C 11: 79,044,839 probably null Het
L3mbtl3 T C 10: 26,330,245 N341S unknown Het
Mfsd12 T C 10: 81,365,788 probably benign Het
Nlrp9c A T 7: 26,375,422 probably benign Het
Ntrk2 T A 13: 58,846,851 C194S probably damaging Het
Olfm4 G A 14: 80,011,952 V170I possibly damaging Het
Olfr936 A C 9: 39,047,413 D46E unknown Het
Onecut1 C A 9: 74,889,533 Q445K possibly damaging Het
Pak6 A G 2: 118,689,864 Q112R probably damaging Het
Pisd C A 5: 32,739,132 probably null Het
Rapgef2 C T 3: 79,103,963 E124K probably damaging Het
Snx14 T C 9: 88,381,512 T893A probably benign Het
Spag17 T C 3: 99,940,074 probably benign Het
Tgds T C 14: 118,116,129 T259A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zc3h12a A G 4: 125,119,986 S362P probably benign Het
Zfyve16 A G 13: 92,504,498 I1246T probably damaging Het
Other mutations in Ighv1-47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02642:Ighv1-47 APN 12 114991224 missense probably damaging 1.00
IGL02671:Ighv1-47 APN 12 114991398 missense possibly damaging 0.49
PIT4377001:Ighv1-47 UTSW 12 114991238 missense probably benign 0.01
Posted On2014-05-07