Incidental Mutation 'IGL01815:Ighv1-53'
ID154367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-53
Ensembl Gene ENSMUSG00000093894
Gene Nameimmunoglobulin heavy variable 1-53
SynonymsAB069917, V23-D-J-C mu
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.266) question?
Stock #IGL01815
Quality Score
Status
Chromosome12
Chromosomal Location115158403-115158835 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 115158597 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 53 (M53L)
Ref Sequence ENSEMBL: ENSMUSP00000100304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103523]
Predicted Effect probably benign
Transcript: ENSMUST00000103523
AA Change: M53L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000100304
Gene: ENSMUSG00000093894
AA Change: M53L

DomainStartEndE-ValueType
IGv 36 117 3.52e-31 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 A G 4: 155,902,187 E324G probably damaging Het
Arhgap20 T A 9: 51,846,168 Y487N probably damaging Het
Babam2 C T 5: 31,702,098 A3V possibly damaging Het
Fat4 T C 3: 38,888,773 L605P probably damaging Het
Frmpd1 A G 4: 45,284,239 H1020R probably benign Het
Lepr A T 4: 101,814,790 I1004F possibly damaging Het
Limd1 T C 9: 123,479,736 S167P probably benign Het
Lrrc10b T C 19: 10,456,753 D188G probably damaging Het
Nlrp4e T C 7: 23,321,438 L450P probably benign Het
Olfr1457 A T 19: 13,095,656 probably null Het
Olfr58 A G 9: 19,784,015 N294S probably damaging Het
Olfr657 T A 7: 104,636,345 Y224N probably damaging Het
Olfr836 G T 9: 19,121,326 D121Y probably damaging Het
P2ry13 T C 3: 59,209,700 N219S probably benign Het
Pcnx A G 12: 81,990,551 D1861G probably damaging Het
Phlpp2 A G 8: 109,939,859 I1007V probably benign Het
Ppp2r1a A G 17: 20,956,832 N211D probably benign Het
Psmd5 A T 2: 34,852,771 F440L probably benign Het
Rpe65 T A 3: 159,604,530 probably null Het
Utrn T C 10: 12,652,716 T2172A probably benign Het
Vwa8 C T 14: 79,198,277 T1809M possibly damaging Het
Wdr70 C T 15: 7,887,324 probably null Het
Other mutations in Ighv1-53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02326:Ighv1-53 APN 12 115158615 missense probably benign 0.21
R3404:Ighv1-53 UTSW 12 115158438 missense possibly damaging 0.81
R4020:Ighv1-53 UTSW 12 115158822 missense probably benign 0.00
R4169:Ighv1-53 UTSW 12 115158546 missense possibly damaging 0.63
R4241:Ighv1-53 UTSW 12 115158822 missense probably benign 0.00
R5231:Ighv1-53 UTSW 12 115158605 missense probably benign 0.09
R7139:Ighv1-53 UTSW 12 115158821 nonsense probably null
R7220:Ighv1-53 UTSW 12 115158515 missense probably benign 0.00
R7293:Ighv1-53 UTSW 12 115158821 nonsense probably null
Posted On2014-02-04