Incidental Mutation 'IGL00973:Ighv15-2'
ID306626
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv15-2
Ensembl Gene ENSMUSG00000076688
Gene Nameimmunoglobulin heavy variable V15-2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.323) question?
Stock #IGL00973
Quality Score
Status
Chromosome12
Chromosomal Location114564578-114565012 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 114564870 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 20 (V20D)
Ref Sequence ENSEMBL: ENSMUSP00000100278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103497] [ENSMUST00000195337]
Predicted Effect possibly damaging
Transcript: ENSMUST00000103497
AA Change: V20D

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100278
Gene: ENSMUSG00000076688
AA Change: V20D

DomainStartEndE-ValueType
IGv 35 117 3.29e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000195337
AA Change: V21D

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141867
Gene: ENSMUSG00000076688
AA Change: V21D

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 118 1.3e-24 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10a G T 7: 58,807,470 D906Y probably damaging Het
Cdh18 A G 15: 23,173,796 K32R probably damaging Het
Chtf18 G A 17: 25,722,116 A636V probably benign Het
Clcn6 A G 4: 148,013,788 probably benign Het
Dspp A C 5: 104,176,892 K374Q possibly damaging Het
Dusp27 T C 1: 166,099,458 S862G probably benign Het
Ehmt2 C T 17: 34,910,815 R962C probably damaging Het
Frrs1l T C 4: 56,972,369 K111E probably damaging Het
Galnt5 A G 2: 57,998,939 T184A probably benign Het
Glud1 C T 14: 34,319,942 T169I probably damaging Het
Hinfp T G 9: 44,298,139 D283A probably benign Het
Hmcn2 C T 2: 31,383,821 probably benign Het
Hs6st3 A T 14: 119,869,407 Y409F possibly damaging Het
Kif17 A G 4: 138,275,057 T91A probably benign Het
Mical3 T C 6: 120,934,924 probably benign Het
Myo1e C T 9: 70,338,787 T420M probably damaging Het
Olfr876 C A 9: 37,804,782 S290R probably damaging Het
Ovgp1 T A 3: 105,981,277 Y316* probably null Het
Plekha1 T A 7: 130,911,013 V313D probably damaging Het
Polr1e C A 4: 45,031,364 probably benign Het
Prdm15 A T 16: 97,806,167 probably benign Het
Ptpn4 T A 1: 119,741,371 M250L probably benign Het
Rtn1 A T 12: 72,408,511 L14Q probably benign Het
Sec24a T C 11: 51,729,577 probably null Het
Sox7 A G 14: 63,948,187 H224R probably benign Het
Sucla2 T C 14: 73,590,907 I318T possibly damaging Het
Tubb4b-ps1 A G 5: 7,179,408 probably benign Het
Ube2o T A 11: 116,541,205 K940M probably damaging Het
Usp20 A C 2: 31,004,950 N149T probably damaging Het
Utp6 C T 11: 79,955,705 W150* probably null Het
Wdr27 A C 17: 14,913,878 H475Q probably benign Het
Other mutations in Ighv15-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02194:Ighv15-2 APN 12 114564721 missense probably damaging 1.00
R0134:Ighv15-2 UTSW 12 114565037 unclassified probably benign
R0225:Ighv15-2 UTSW 12 114565037 unclassified probably benign
R4580:Ighv15-2 UTSW 12 114564970 missense probably benign 0.21
R4745:Ighv15-2 UTSW 12 114564610 missense probably damaging 1.00
R4781:Ighv15-2 UTSW 12 114564856 missense probably damaging 1.00
R7153:Ighv15-2 UTSW 12 114564590 nonsense probably null
Z1088:Ighv15-2 UTSW 12 114564804 missense probably damaging 0.97
Posted On2015-04-16