Incidental Mutation 'R1354:Ighv8-6'
ID262755
Institutional Source Beutler Lab
Gene Symbol Ighv8-6
Ensembl Gene ENSMUSG00000094505
Gene Nameimmunoglobulin heavy variable V8-6
Synonyms
MMRRC Submission 039419-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R1354 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location115165781-115166220 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 115166080 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 19 (S19T)
Ref Sequence ENSEMBL: ENSMUSP00000141906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103524] [ENSMUST00000193145]
Predicted Effect probably benign
Transcript: ENSMUST00000103524
SMART Domains Protein: ENSMUSP00000100305
Gene: ENSMUSG00000094505

DomainStartEndE-ValueType
IGv 17 99 1.25e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000193145
AA Change: S19T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141906
Gene: ENSMUSG00000094505
AA Change: S19T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 118 5.2e-25 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 92.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atoh1 A G 6: 64,729,357 E12G possibly damaging Het
Ccdc183 T C 2: 25,612,139 N241S probably benign Het
Cmya5 G A 13: 93,092,058 T2174I possibly damaging Het
Edem1 A G 6: 108,854,316 I579M possibly damaging Het
Gimap9 A T 6: 48,678,048 M190L probably benign Het
Glod4 A T 11: 76,237,828 probably null Het
Lef1 C T 3: 131,194,668 P267S probably damaging Het
Megf11 A G 9: 64,653,177 E335G probably benign Het
Muc5ac A G 7: 141,807,377 N1475S probably damaging Het
Ndst2 C A 14: 20,724,975 R749L possibly damaging Het
Oas3 C A 5: 120,770,000 V292L possibly damaging Het
Phactr1 A T 13: 43,057,331 I210F possibly damaging Het
Plppr5 G A 3: 117,575,847 R51H possibly damaging Het
Ppp1r12b G A 1: 134,835,983 T771M probably benign Het
Rasgrf2 G A 13: 92,028,666 P331S probably damaging Het
Rtl6 C T 15: 84,556,527 V223M probably damaging Het
Tbc1d9 A C 8: 83,268,981 probably null Het
Tgm3 T C 2: 130,041,898 I492T probably benign Het
Trdv1 T A 14: 53,881,918 probably benign Het
Wdr45b A T 11: 121,335,430 I191N probably damaging Het
Other mutations in Ighv8-6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Ighv8-6 APN 12 115165852 missense probably damaging 0.96
IGL01323:Ighv8-6 APN 12 115165857 missense possibly damaging 0.54
IGL02877:Ighv8-6 APN 12 115166080 missense probably damaging 0.99
R3159:Ighv8-6 UTSW 12 115165888 missense probably damaging 0.97
Predicted Primers
Posted On2015-02-04