Incidental Mutation 'IGL02545:Ighv1-19'
ID297772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-19
Ensembl Gene ENSMUSG00000096410
Gene Nameimmunoglobulin heavy variable V1-19
SynonymsGm16855
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.199) question?
Stock #IGL02545
Quality Score
Status
Chromosome12
Chromosomal Location114708648-114709135 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 114708739 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 87 (A87V)
Ref Sequence ENSEMBL: ENSMUSP00000141737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103505] [ENSMUST00000193855]
Predicted Effect probably damaging
Transcript: ENSMUST00000103505
AA Change: A86V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100286
Gene: ENSMUSG00000096410
AA Change: A86V

DomainStartEndE-ValueType
IGv 35 116 8.41e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192823
Predicted Effect probably damaging
Transcript: ENSMUST00000193855
AA Change: A87V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141737
Gene: ENSMUSG00000096410
AA Change: A87V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 3.5e-31 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 160,075,424 L88P probably damaging Het
Adamtsl4 G A 3: 95,683,374 Q354* probably null Het
Aox3 A C 1: 58,183,486 D1146A probably damaging Het
Ap2a1 T A 7: 44,906,426 H340L probably damaging Het
Ccni G T 5: 93,187,777 F167L probably benign Het
Ctcf A G 8: 105,664,381 T207A probably benign Het
D930020B18Rik A G 10: 121,689,933 H580R possibly damaging Het
Dock3 A T 9: 107,062,072 L159Q probably damaging Het
Dync1i2 T C 2: 71,262,751 I630T possibly damaging Het
Fchsd2 A G 7: 101,198,508 T202A probably benign Het
Gdi2 A G 13: 3,557,009 Y214C probably damaging Het
Gna14 T A 19: 16,533,726 S46R probably damaging Het
Hfm1 A G 5: 106,895,287 I627T probably damaging Het
Itch G A 2: 155,172,586 probably null Het
Klrb1b T C 6: 128,820,309 Q72R possibly damaging Het
Lrpprc A G 17: 84,775,425 F144L probably benign Het
Lrrc7 A G 3: 158,185,374 probably benign Het
Ndufa11 T A 17: 56,721,338 F72L probably damaging Het
Neu1 T A 17: 34,931,501 V32E probably benign Het
Olfr181 T A 16: 58,926,470 I34F possibly damaging Het
Osmr T C 15: 6,823,579 K611E probably damaging Het
Pcdh20 A G 14: 88,468,844 V340A possibly damaging Het
Pih1d3 A G 1: 31,223,096 D53G probably damaging Het
Plxna2 T A 1: 194,786,690 probably benign Het
Pou6f1 C T 15: 100,583,425 W210* probably null Het
Ppat A G 5: 76,915,232 Y511H probably damaging Het
Psme4 T G 11: 30,841,586 V1147G possibly damaging Het
Scap C T 9: 110,378,690 T489I probably benign Het
Sptb A G 12: 76,607,980 probably null Het
Tcl1b5 T A 12: 105,180,037 probably benign Het
Trim54 T A 5: 31,132,165 probably benign Het
Unc13c C T 9: 73,481,075 R2143Q probably damaging Het
Vmn1r56 A T 7: 5,196,114 V168D probably benign Het
Vmn2r66 A T 7: 85,006,590 M406K possibly damaging Het
Other mutations in Ighv1-19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Ighv1-19 APN 12 114708709 missense probably benign 0.15
IGL00966:Ighv1-19 APN 12 114708949 missense possibly damaging 0.51
R3729:Ighv1-19 UTSW 12 114708877 missense probably damaging 1.00
R3730:Ighv1-19 UTSW 12 114708877 missense probably damaging 1.00
R3731:Ighv1-19 UTSW 12 114708877 missense probably damaging 1.00
R4093:Ighv1-19 UTSW 12 114708730 missense probably damaging 1.00
R4969:Ighv1-19 UTSW 12 114708757 missense probably benign 0.12
R5021:Ighv1-19 UTSW 12 114709066 missense probably benign 0.00
R6448:Ighv1-19 UTSW 12 114708676 missense probably damaging 1.00
R7335:Ighv1-19 UTSW 12 114708951 critical splice acceptor site probably benign
Posted On2015-04-16