Incidental Mutation 'IGL02315:Ighv1-67'
ID287986
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-67
Ensembl Gene ENSMUSG00000095863
Gene Nameimmunoglobulin heavy variable V1-67
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02315
Quality Score
Status
Chromosome12
Chromosomal Location115603940-115604233 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 115604067 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 56 (G56D)
Ref Sequence ENSEMBL: ENSMUSP00000100319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103538] [ENSMUST00000198646]
Predicted Effect probably benign
Transcript: ENSMUST00000103538
AA Change: G56D

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000100319
Gene: ENSMUSG00000095863
AA Change: G56D

DomainStartEndE-ValueType
IGv 17 98 1.85e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198646
AA Change: G75D

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143248
Gene: ENSMUSG00000095863
AA Change: G75D

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 7.5e-28 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,376,173 I162F probably damaging Het
Akap8 T C 17: 32,305,501 D607G probably benign Het
Ap2b1 G A 11: 83,336,799 V327I probably damaging Het
Bmpr1b A G 3: 141,857,529 V218A probably damaging Het
Cfap157 T A 2: 32,778,165 D421V probably benign Het
Ctsm A G 13: 61,539,648 V100A probably benign Het
Cwf19l2 C T 9: 3,410,030 T53I probably damaging Het
Dst T C 1: 34,198,665 C3663R probably damaging Het
Fbxo10 T A 4: 45,062,469 H19L probably benign Het
Ghitm A T 14: 37,131,564 N106K probably benign Het
Hivep2 T C 10: 14,131,239 F1194L probably benign Het
Hpse2 A G 19: 42,966,947 probably benign Het
Ikzf4 A G 10: 128,634,145 F502S probably damaging Het
Lrrc24 A T 15: 76,718,306 F126L probably damaging Het
Mapt G A 11: 104,328,078 R355Q probably damaging Het
Mug1 T A 6: 121,840,167 V65E probably benign Het
Myh6 T C 14: 54,953,834 E850G probably damaging Het
Myh9 C A 15: 77,769,973 V1211L probably benign Het
Naip2 T A 13: 100,161,236 D764V probably damaging Het
Olfr926 G A 9: 38,878,057 V294I probably damaging Het
Parp6 A G 9: 59,641,738 probably benign Het
Ppp4r4 C T 12: 103,600,361 probably benign Het
Pramef6 T C 4: 143,897,928 probably benign Het
Pxylp1 A G 9: 96,839,143 L56P probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Skida1 T C 2: 18,046,005 probably benign Het
Slc35d2 A G 13: 64,107,035 S210P possibly damaging Het
Slit2 C T 5: 47,987,871 T71M probably damaging Het
Spem2 A T 11: 69,817,365 L258Q probably damaging Het
Stxbp2 C T 8: 3,635,607 probably benign Het
Vit G A 17: 78,622,658 V351I possibly damaging Het
Zwilch A G 9: 64,150,267 S285P probably damaging Het
Zzef1 A T 11: 72,875,257 R1537* probably null Het
Other mutations in Ighv1-67
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02688:Ighv1-67 APN 12 115604023 missense probably damaging 1.00
R2896:Ighv1-67 UTSW 12 115603975 missense probably damaging 0.96
R6766:Ighv1-67 UTSW 12 115604034 missense possibly damaging 0.76
R7220:Ighv1-67 UTSW 12 115604046 missense probably benign 0.45
Posted On2015-04-16