Incidental Mutation 'IGL02883:Igkv8-30'
ID362861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv8-30
Ensembl Gene ENSMUSG00000076577
Gene Nameimmunoglobulin kappa chain variable 8-30
SynonymsGm10883, ENSMUSG00000073025
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.163) question?
Stock #IGL02883
Quality Score
Status
Chromosome6
Chromosomal Location70117061-70117617 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to C at 70117617 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000100179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103378]
Predicted Effect probably null
Transcript: ENSMUST00000103378
AA Change: M1V

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100179
Gene: ENSMUSG00000076577
AA Change: M1V

DomainStartEndE-ValueType
IGv 38 116 8.1e-22 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,716,972 S186R possibly damaging Het
Acap2 A G 16: 31,096,345 probably benign Het
Cacna1h G T 17: 25,380,532 R1726S probably damaging Het
Cdca2 T C 14: 67,707,497 S133G probably damaging Het
Cep295nl A T 11: 118,333,909 S36R probably benign Het
Crispld1 A G 1: 17,746,789 N190S possibly damaging Het
Crtam A G 9: 40,994,501 V44A probably benign Het
Crtc1 C T 8: 70,406,125 G112S probably benign Het
Cyp17a1 T C 19: 46,669,351 N254S probably benign Het
Dmrta1 T C 4: 89,688,774 S156P probably benign Het
Eno2 A C 6: 124,766,209 V188G probably damaging Het
Fam20a A T 11: 109,675,127 I427N probably damaging Het
Fat2 T C 11: 55,256,618 K3933E probably benign Het
Gm15448 A G 7: 3,822,180 S488P possibly damaging Het
Ist1 G A 8: 109,683,668 probably benign Het
Kank4 T C 4: 98,773,453 E765G possibly damaging Het
Kat14 T C 2: 144,393,529 L92S probably damaging Het
Kcnu1 G A 8: 25,849,827 V58I probably benign Het
Lrba T A 3: 86,445,413 I1956N probably damaging Het
Lrba T A 3: 86,354,206 V1489E probably damaging Het
Mdn1 G A 4: 32,763,199 V5100I probably benign Het
Mkrn2os C A 6: 115,586,709 G122* probably null Het
Nme3 T C 17: 24,896,906 Y78H probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ppp2r5c T G 12: 110,522,563 V56G possibly damaging Het
Pramef25 T C 4: 143,949,848 T229A possibly damaging Het
Prdm10 G A 9: 31,327,348 V179M probably damaging Het
Rab11fip2 A G 19: 59,906,998 V344A probably damaging Het
Selp G A 1: 164,130,102 A267T probably benign Het
Sf3a1 T A 11: 4,179,192 W718R probably damaging Het
Taar9 T C 10: 24,109,480 N19D probably benign Het
Tas2r113 T G 6: 132,893,419 S137A probably damaging Het
Traf4 A T 11: 78,161,621 I66N possibly damaging Het
Ucp3 A T 7: 100,480,642 T164S probably benign Het
Uggt1 A T 1: 36,177,615 N96K probably benign Het
Uqcc1 T A 2: 155,911,829 Q42L possibly damaging Het
Vmn1r128 A G 7: 21,349,515 K48R probably benign Het
Other mutations in Igkv8-30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Igkv8-30 APN 6 70117347 missense probably benign 0.15
IGL02810:Igkv8-30 APN 6 70117358 missense probably benign 0.01
IGL03260:Igkv8-30 APN 6 70117355 missense probably damaging 0.98
R2089:Igkv8-30 UTSW 6 70117086 missense probably damaging 1.00
R2091:Igkv8-30 UTSW 6 70117086 missense probably damaging 1.00
R2091:Igkv8-30 UTSW 6 70117086 missense probably damaging 1.00
R7174:Igkv8-30 UTSW 6 70117598 missense possibly damaging 0.67
R7185:Igkv8-30 UTSW 6 70117606 missense probably benign 0.01
R7185:Igkv8-30 UTSW 6 70117607 missense probably damaging 0.98
R7197:Igkv8-30 UTSW 6 70117085 missense probably damaging 1.00
R7798:Igkv8-30 UTSW 6 70117371 missense probably benign 0.01
Posted On2015-12-18