Incidental Mutation 'IGL03301:Igkv19-93'
ID416221
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv19-93
Ensembl Gene ENSMUSG00000076530
Gene Nameimmunoglobulin kappa chain variable 19-93
SynonymsIgk-V38, Vx38C
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.400) question?
Stock #IGL03301
Quality Score
Status
Chromosome6
Chromosomal Location68736297-68736764 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 68736481 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 55 (W55R)
Ref Sequence ENSEMBL: ENSMUSP00000143363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000183936] [ENSMUST00000196863]
Predicted Effect probably damaging
Transcript: ENSMUST00000183936
AA Change: W54R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139272
Gene: ENSMUSG00000098814
AA Change: W54R

DomainStartEndE-ValueType
IGv 37 109 5.47e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000196863
AA Change: W55R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143363
Gene: ENSMUSG00000098814
AA Change: W55R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 110 2.2e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197608
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,707,404 E418G probably damaging Het
Arl14 T C 3: 69,222,943 F141S probably damaging Het
C1s1 A T 6: 124,541,324 probably benign Het
Cilp T C 9: 65,280,217 V1198A probably benign Het
Cnbd1 A T 4: 19,055,039 I129K probably benign Het
Ctdp1 G A 18: 80,449,634 Q549* probably null Het
Cyp2ab1 T A 16: 20,313,799 I250F possibly damaging Het
Dmd G A X: 83,908,514 R1765Q probably damaging Het
Dnah1 C T 14: 31,292,692 G1739R probably damaging Het
Eml6 T C 11: 29,764,083 K1350E probably benign Het
Ephx4 C A 5: 107,426,864 T256K probably benign Het
Fnd3c2 G T X: 106,252,263 Q49K probably benign Het
Heatr1 G T 13: 12,434,205 G1889W probably damaging Het
Jak1 T C 4: 101,175,173 Y412C probably damaging Het
Moxd1 A T 10: 24,279,484 N261I probably damaging Het
Mrgpra1 T C 7: 47,335,416 N172D probably benign Het
Papolg T C 11: 23,874,503 N293S probably benign Het
Piezo2 A G 18: 63,027,704 S2294P probably damaging Het
Ppp3cb A T 14: 20,523,984 V262D probably damaging Het
Rhox7a A G X: 37,840,011 T235A probably benign Het
Saal1 A G 7: 46,702,520 probably benign Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Slc22a2 A G 17: 12,606,039 R263G probably damaging Het
Speer3 T A 5: 13,795,433 L160H probably damaging Het
Tmcc2 T C 1: 132,360,819 M377V possibly damaging Het
Tsen2 T G 6: 115,568,771 Y341D probably damaging Het
Vmn2r13 A T 5: 109,158,089 V541D probably damaging Het
Vmn2r15 A G 5: 109,297,355 probably null Het
Zfp711 T C X: 112,633,401 Y710H probably damaging Het
Zmiz2 C T 11: 6,401,170 T566M probably damaging Het
Other mutations in Igkv19-93
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5195:Igkv19-93 UTSW 6 68736526 missense probably damaging 0.96
R6253:Igkv19-93 UTSW 6 68736339 missense probably damaging 1.00
R7282:Igkv19-93 UTSW 6 68736501 missense probably benign 0.00
R7568:Igkv19-93 UTSW 6 68736493 nonsense probably null
Posted On2016-08-02