Incidental Mutation 'IGL00841:Ighv1-64'
ID88910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-64
Ensembl Gene ENSMUSG00000094088
Gene Nameimmunoglobulin heavy variable 1-64
SynonymsGm16865
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.205) question?
Stock #IGL00841
Quality Score
Status
Chromosome12
Chromosomal Location115507587-115507977 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to T at 115507976 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000100316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103535]
Predicted Effect probably null
Transcript: ENSMUST00000103535
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100316
Gene: ENSMUSG00000094088
AA Change: M1K

DomainStartEndE-ValueType
IGv 36 117 2.29e-30 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1b T C 13: 96,417,830 probably benign Het
Arl2 C A 19: 6,135,969 probably benign Het
Atp8b4 A G 2: 126,383,769 S514P probably damaging Het
Ces1a G T 8: 93,039,536 S150* probably null Het
Ces1g T A 8: 93,302,987 D539V possibly damaging Het
Col24a1 A G 3: 145,362,309 D752G probably damaging Het
Ctsd A C 7: 142,382,681 S128A probably damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dscam G A 16: 96,819,877 L544F probably damaging Het
Fry T A 5: 150,422,724 I1566N probably benign Het
Fut8 T A 12: 77,365,321 H148Q probably benign Het
Ivd T C 2: 118,876,902 V299A probably benign Het
Kcnab3 A G 11: 69,331,303 I292V probably benign Het
Mfhas1 T A 8: 35,590,886 N838K probably damaging Het
Prom1 A T 5: 44,063,116 probably benign Het
Ros1 T G 10: 52,144,873 T648P possibly damaging Het
Scel A T 14: 103,529,995 Q30L probably benign Het
Skp2 A C 15: 9,139,487 S40R probably benign Het
Tm9sf1 T A 14: 55,642,727 K71M probably damaging Het
Vegfb A G 19: 6,986,478 W38R probably damaging Het
Xpo1 T G 11: 23,285,094 F588V probably damaging Het
Zfp990 C A 4: 145,537,868 L479M probably damaging Het
Other mutations in Ighv1-64
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02355:Ighv1-64 APN 12 115507616 missense probably benign 0.01
IGL02362:Ighv1-64 APN 12 115507616 missense probably benign 0.01
IGL02615:Ighv1-64 APN 12 115507687 missense possibly damaging 0.90
IGL03085:Ighv1-64 APN 12 115507841 missense possibly damaging 0.79
R4724:Ighv1-64 UTSW 12 115507846 missense probably benign 0.02
R4829:Ighv1-64 UTSW 12 115507726 missense probably benign
R8080:Ighv1-64 UTSW 12 115507843 missense probably benign 0.00
Z1177:Ighv1-64 UTSW 12 115507666 missense probably benign 0.07
Posted On2013-12-03