Incidental Mutation 'IGL01363:Igkv8-19'
ID75816
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv8-19
Ensembl Gene ENSMUSG00000096594
Gene Nameimmunoglobulin kappa variable 8-19
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01363
Quality Score
Status
Chromosome6
Chromosomal Location70340876-70341180 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 70341099 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 48 (S48G)
Ref Sequence ENSEMBL: ENSMUSP00000143247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103388] [ENSMUST00000103389] [ENSMUST00000196599]
Predicted Effect probably benign
Transcript: ENSMUST00000103388
SMART Domains Protein: ENSMUSP00000100189
Gene: ENSMUSG00000076587

DomainStartEndE-ValueType
IGv 38 110 4.84e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103389
AA Change: S28G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100190
Gene: ENSMUSG00000096594
AA Change: S28G

DomainStartEndE-ValueType
IGv 18 96 6.58e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000196599
AA Change: S48G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143247
Gene: ENSMUSG00000096594
AA Change: S48G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 116 2.7e-24 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,610,690 F23S probably damaging Het
A730017C20Rik G A 18: 59,072,308 G98D probably damaging Het
Abcg3 A G 5: 104,948,362 V528A possibly damaging Het
Adgrv1 A G 13: 81,557,065 V1542A probably damaging Het
Alkbh3 A G 2: 94,003,051 probably null Het
Ang4 G T 14: 51,764,179 T104K probably benign Het
Arhgef3 T A 14: 27,401,919 C532* probably null Het
Bnip3 G A 7: 138,898,048 T70I probably benign Het
Cast T C 13: 74,704,192 E644G possibly damaging Het
Cenpc1 A T 5: 86,046,531 C125* probably null Het
Crb2 C A 2: 37,793,833 R1116S probably benign Het
Cyp2c67 T G 19: 39,639,967 I178L probably damaging Het
Cyp2c68 T A 19: 39,703,427 M351L probably benign Het
Dusp1 G A 17: 26,506,290 P365L probably damaging Het
Gatb T C 3: 85,652,345 L492P probably damaging Het
Gm13103 A T 4: 143,853,276 Y477F probably benign Het
Isyna1 G A 8: 70,594,722 V32I probably damaging Het
Itgb6 T A 2: 60,611,382 N695Y possibly damaging Het
Klra8 T C 6: 130,115,598 T247A probably benign Het
Mak G A 13: 41,053,377 probably benign Het
Mndal T A 1: 173,857,456 T516S possibly damaging Het
Mphosph9 G T 5: 124,262,021 T939K probably damaging Het
Nfrkb A G 9: 31,414,371 T1037A possibly damaging Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr25 A G 9: 38,329,703 T39A probably benign Het
Pard3b A G 1: 62,637,640 Y1011C probably damaging Het
Parm1 G A 5: 91,613,018 V250M probably damaging Het
Pgap2 T G 7: 102,226,282 M1R probably null Het
Phlpp2 T C 8: 109,937,097 F923L probably benign Het
Polr1a T A 6: 71,948,486 M739K probably benign Het
Pramel1 A G 4: 143,397,385 Y210C probably benign Het
Raver2 A G 4: 101,120,583 probably benign Het
Rb1cc1 C T 1: 6,250,109 L1251F probably benign Het
Ros1 T A 10: 52,166,142 Y238F probably damaging Het
Shroom3 T C 5: 92,940,993 L534P probably benign Het
Tjp1 A T 7: 65,302,965 F1540L possibly damaging Het
Tmem200b C A 4: 131,922,393 P208Q probably benign Het
Tmem236 T C 2: 14,174,630 L14P probably damaging Het
Tubgcp6 A T 15: 89,107,525 I623N probably damaging Het
Vmn1r119 C T 7: 21,012,131 V109I probably benign Het
Vmn2r98 A G 17: 19,065,758 N173D probably benign Het
Other mutations in Igkv8-19
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6181:Igkv8-19 UTSW 6 70340984 missense probably damaging 0.98
R7072:Igkv8-19 UTSW 6 70341412 missense probably benign 0.01
R7633:Igkv8-19 UTSW 6 70341399 critical splice donor site probably benign
Posted On2013-10-07