Incidental Mutation 'IGL02994:Ighv14-2'
ID407048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv14-2
Ensembl Gene ENSMUSG00000095583
Gene Nameimmunoglobulin heavy variable 14-2
SynonymsGm16683
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.418) question?
Stock #IGL02994
Quality Score
Status
Chromosome12
Chromosomal Location113994469-113994898 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 113994591 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 77 (T77S)
Ref Sequence ENSEMBL: ENSMUSP00000100248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103467]
Predicted Effect probably benign
Transcript: ENSMUST00000103467
AA Change: T77S

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000100248
Gene: ENSMUSG00000095583
AA Change: T77S

DomainStartEndE-ValueType
IGv 36 117 5.95e-29 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acpp T A 9: 104,309,403 probably benign Het
Ahnak2 A G 12: 112,786,207 V137A probably damaging Het
Alk G T 17: 71,949,820 F681L probably benign Het
Ankrd35 T C 3: 96,682,991 probably benign Het
Aqp3 A T 4: 41,093,614 C267S probably benign Het
Arl13b T A 16: 62,812,003 I76F probably damaging Het
Cdc42bpa G T 1: 179,999,437 R85L probably damaging Het
Ctgf T A 10: 24,596,865 N224K probably damaging Het
Dock4 T G 12: 40,779,160 I1015R probably damaging Het
Dst A G 1: 34,229,252 probably benign Het
Egfr T C 11: 16,911,811 Y1197H probably damaging Het
Endod1 A G 9: 14,356,887 V434A possibly damaging Het
Exosc9 A G 3: 36,553,138 probably benign Het
Fgg G T 3: 83,008,474 R74L probably benign Het
Fmo2 A T 1: 162,880,620 D315E probably damaging Het
H2afy T C 13: 56,104,299 probably benign Het
H2-M3 G A 17: 37,270,738 S97N probably benign Het
Klhl9 A T 4: 88,721,197 L269* probably null Het
Lin37 G A 7: 30,557,160 R84W probably damaging Het
Mkln1 T C 6: 31,490,443 S31P probably damaging Het
Nacad A G 11: 6,599,528 L1221P possibly damaging Het
Nbr1 A T 11: 101,556,227 N13I probably damaging Het
Ndfip1 T C 18: 38,452,416 I161T probably damaging Het
Nsg1 A G 5: 38,155,602 probably benign Het
Rsbn1l G T 5: 20,908,234 T430K probably damaging Het
Serpina6 A G 12: 103,653,951 S180P probably benign Het
Slc4a5 T C 6: 83,272,124 L570P probably damaging Het
Tank A G 2: 61,650,292 probably benign Het
Tpd52 A G 3: 8,947,530 F76L probably benign Het
Ubox5 A C 2: 130,600,317 L150R probably benign Het
Zfp710 T C 7: 80,081,833 S253P probably benign Het
Other mutations in Ighv14-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Ighv14-2 APN 12 113994759 missense possibly damaging 0.47
IGL01685:Ighv14-2 APN 12 113994501 missense probably damaging 0.99
IGL03222:Ighv14-2 APN 12 113994494 missense possibly damaging 0.94
R4537:Ighv14-2 UTSW 12 113994892 missense probably benign 0.27
R6004:Ighv14-2 UTSW 12 113994635 missense probably damaging 0.98
R6294:Ighv14-2 UTSW 12 113994598 missense probably benign 0.01
Posted On2016-08-02