Incidental Mutation 'IGL02293:Igkv4-71'
ID290097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv4-71
Ensembl Gene ENSMUSG00000073028
Gene Nameimmunoglobulin kappa chain variable 4-71
SynonymsGm16730
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #IGL02293
Quality Score
Status
Chromosome6
Chromosomal Location69243158-69243445 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 69243322 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 42 (S42A)
Ref Sequence ENSEMBL: ENSMUSP00000100575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101325] [ENSMUST00000196201]
Predicted Effect possibly damaging
Transcript: ENSMUST00000101325
AA Change: S42A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100575
Gene: ENSMUSG00000073028
AA Change: S42A

DomainStartEndE-ValueType
IGv 18 89 2.98e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196201
AA Change: S64A

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142768
Gene: ENSMUSG00000073028
AA Change: S64A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGv 40 111 1.2e-22 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T A 11: 78,271,910 L866H probably damaging Het
Agtr1a A G 13: 30,381,357 K135R probably benign Het
Ahdc1 C T 4: 133,065,618 A1390V possibly damaging Het
Aldh1a2 A G 9: 71,285,277 probably null Het
C6 T A 15: 4,755,303 I217K probably benign Het
Ccr1l1 G A 9: 123,977,936 T158I possibly damaging Het
Dnah6 A T 6: 73,133,650 probably benign Het
Ect2l A G 10: 18,140,511 probably null Het
Endov T C 11: 119,505,173 probably benign Het
Fpr-rs7 A G 17: 20,113,970 V86A probably benign Het
Gle1 A G 2: 29,957,760 I660V probably benign Het
Gm2056 A G 12: 88,027,263 N87S probably benign Het
Hk2 A T 6: 82,743,975 D159E probably benign Het
Hmcn1 A G 1: 150,664,915 V2881A probably damaging Het
Hspa14 T C 2: 3,511,034 K68E probably damaging Het
Ifi207 A T 1: 173,723,748 I974N probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Klhl32 A G 4: 24,626,935 Y555H probably damaging Het
Lmbrd2 T C 15: 9,172,189 S357P probably benign Het
Mfsd1 T A 3: 67,598,092 V380D probably damaging Het
Ndc80 A G 17: 71,514,278 F225S probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr320 T C 11: 58,684,170 V99A probably benign Het
Plxnd1 A G 6: 115,963,913 V1355A probably damaging Het
Prkd1 A G 12: 50,489,978 S108P probably damaging Het
Ptges3 C T 10: 128,075,335 probably benign Het
Rabggta G T 14: 55,721,696 L5M probably benign Het
Rag1 C T 2: 101,643,046 D584N probably benign Het
Rasl12 A G 9: 65,408,311 D79G probably benign Het
Rhoj A G 12: 75,375,412 probably benign Het
Slc4a9 T C 18: 36,533,215 L483P probably benign Het
Other mutations in Igkv4-71
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Igkv4-71 APN 6 69243280 nonsense probably null
IGL03099:Igkv4-71 APN 6 69243415 missense probably benign 0.01
R0501:Igkv4-71 UTSW 6 69243306 missense probably damaging 1.00
R0556:Igkv4-71 UTSW 6 69243187 missense probably damaging 1.00
R0675:Igkv4-71 UTSW 6 69243427 missense probably damaging 1.00
Posted On2015-04-16