Incidental Mutation 'IGL01323:Ighv8-6'
ID74112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv8-6
Ensembl Gene ENSMUSG00000094505
Gene Nameimmunoglobulin heavy variable V8-6
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01323
Quality Score
Status
Chromosome12
Chromosomal Location115165781-115166220 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115165857 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 93 (D93G)
Ref Sequence ENSEMBL: ENSMUSP00000141906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103524] [ENSMUST00000193145]
Predicted Effect probably benign
Transcript: ENSMUST00000103524
AA Change: D74G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000100305
Gene: ENSMUSG00000094505
AA Change: D74G

DomainStartEndE-ValueType
IGv 17 99 1.25e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000193145
AA Change: D93G

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141906
Gene: ENSMUSG00000094505
AA Change: D93G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 118 5.2e-25 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,871,495 D1272G probably damaging Het
Ascl2 A G 7: 142,968,388 S108P probably benign Het
B3gat1 T C 9: 26,755,910 V146A possibly damaging Het
Barhl1 C T 2: 28,915,546 S45N probably benign Het
Birc6 C T 17: 74,622,925 A2370V probably damaging Het
C1qtnf7 A G 5: 43,609,260 D67G possibly damaging Het
Cand2 A G 6: 115,785,125 T171A probably benign Het
Ccdc77 T C 6: 120,334,796 Q247R probably benign Het
Cenpp A T 13: 49,647,642 V100D probably damaging Het
Cep135 A G 5: 76,591,765 T3A probably benign Het
Eef2k T C 7: 120,884,815 probably benign Het
Fga T C 3: 83,030,211 S132P probably damaging Het
Gm4070 A G 7: 105,896,802 S2348P possibly damaging Het
Gpr6 T A 10: 41,071,559 N9I possibly damaging Het
Hacd3 A G 9: 64,998,305 F184L probably damaging Het
Heatr1 T C 13: 12,398,938 I132T possibly damaging Het
Igfbp7 A G 5: 77,352,037 probably benign Het
Izumo3 A G 4: 92,146,390 probably benign Het
Jade2 T C 11: 51,825,338 T347A possibly damaging Het
Kif18a A G 2: 109,298,442 T419A probably benign Het
Krt34 A G 11: 100,038,780 S267P possibly damaging Het
Krt4 T G 15: 101,920,281 K383Q probably damaging Het
Lgals7 G T 7: 28,865,564 E42D probably benign Het
Morc2b A G 17: 33,137,319 V493A possibly damaging Het
Mtif2 T A 11: 29,541,447 S557R probably damaging Het
Nup43 T A 10: 7,669,556 F83I probably benign Het
Olfr107 G T 17: 37,406,140 M197I probably benign Het
Oosp2 A G 19: 11,647,461 L155S probably damaging Het
Plxnd1 T A 6: 115,966,799 T1180S possibly damaging Het
Prpf39 T A 12: 65,042,724 F79I possibly damaging Het
Prph G A 15: 99,058,636 S465N possibly damaging Het
Purg A T 8: 33,386,603 I90L probably damaging Het
Pxdn C A 12: 29,987,137 Q305K probably benign Het
R3hdm1 G A 1: 128,216,543 S816N probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
Tmem201 G A 4: 149,719,588 probably benign Het
Tnfrsf22 G A 7: 143,643,374 P76L probably damaging Het
Triml1 T C 8: 43,138,563 probably null Het
Upp1 A G 11: 9,136,100 *312W probably null Het
Wdfy3 G T 5: 101,895,064 S1940R probably damaging Het
Xpc T C 6: 91,492,353 Y804C probably damaging Het
Xrn2 C T 2: 147,034,847 probably benign Het
Zfp106 A T 2: 120,524,464 D1275E possibly damaging Het
Other mutations in Ighv8-6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Ighv8-6 APN 12 115165852 missense probably damaging 0.96
IGL02877:Ighv8-6 APN 12 115166080 missense probably damaging 0.99
R1354:Ighv8-6 UTSW 12 115166080 missense probably damaging 0.99
R3159:Ighv8-6 UTSW 12 115165888 missense probably damaging 0.97
Posted On2013-10-07