Incidental Mutation 'R4991:Igkv4-80'
ID386188
Institutional Source Beutler Lab
Gene Symbol Igkv4-80
Ensembl Gene ENSMUSG00000076540
Gene Nameimmunoglobulin kappa variable 4-80
SynonymsGm16729
MMRRC Submission 042585-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #R4991 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location69016560-69017080 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 69016665 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 81 (S81A)
Ref Sequence ENSEMBL: ENSMUSP00000100142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103341]
Predicted Effect probably benign
Transcript: ENSMUST00000103341
AA Change: S81A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100142
Gene: ENSMUSG00000076540
AA Change: S81A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGv 40 111 1.7e-19 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.0%
Validation Efficiency 95% (73/77)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 G T 14: 55,773,465 T665K probably benign Het
Adgrf3 C T 5: 30,199,148 V369M probably benign Het
Als2 T C 1: 59,207,768 K571E probably benign Het
Amer3 A C 1: 34,588,741 D687A probably benign Het
Asb14 T C 14: 26,915,058 S586P probably damaging Het
Chmp4b A G 2: 154,692,625 E187G probably benign Het
Cox6b2 T C 7: 4,752,161 D38G probably damaging Het
Cpm G A 10: 117,668,103 C138Y probably damaging Het
Csmd3 G T 15: 48,001,478 P785Q probably damaging Het
Cstf1 A G 2: 172,377,800 Y277C probably damaging Het
Cstf2t T A 19: 31,084,583 N506K probably damaging Het
Dmpk C G 7: 19,088,019 L301V probably benign Het
Ebf2 A T 14: 67,389,657 T265S possibly damaging Het
Elmo1 T C 13: 20,342,519 F413S probably damaging Het
Fbp1 C T 13: 62,865,074 V102I probably benign Het
Gm13212 C A 4: 145,622,334 Q114K probably benign Het
Gm14548 T G 7: 3,895,572 Q292H probably benign Het
Gm16432 A C 1: 178,098,421 I218L probably benign Het
Gm19684 A G 17: 36,127,472 probably benign Het
Gm29106 T C 1: 118,178,391 M37T probably benign Het
Grem2 A G 1: 174,836,813 C157R probably damaging Het
Hdac5 T A 11: 102,205,624 E252D probably damaging Het
Ifitm3 A T 7: 141,010,459 F63I probably damaging Het
Irx4 G T 13: 73,265,507 R32L probably benign Het
Itgb1bp1 C T 12: 21,274,848 G69D probably damaging Het
Kcnh3 A G 15: 99,232,756 D418G probably benign Het
Kif1a T C 1: 93,078,808 T46A probably benign Het
Klk1b26 T A 7: 44,016,249 probably null Het
Lca5l T C 16: 96,159,732 E510G possibly damaging Het
Lrriq1 A G 10: 103,200,559 I911T probably damaging Het
Mios T G 6: 8,215,847 S348A probably benign Het
Mog T C 17: 37,017,489 probably null Het
Mtmr7 A G 8: 40,554,345 S516P probably damaging Het
Nat8f4 T C 6: 85,901,140 K134E probably benign Het
Nbeal2 C T 9: 110,638,767 C451Y probably damaging Het
Nkx2-1 T C 12: 56,534,939 Y41C possibly damaging Het
Nmnat1 G A 4: 149,469,127 T176M possibly damaging Het
Nrxn3 T A 12: 89,260,474 I293N probably damaging Het
Olfr1031 A G 2: 85,992,287 M157V probably damaging Het
Olfr1447 T G 19: 12,901,451 T110P probably damaging Het
Olfr313 T C 11: 58,817,718 S237P probably damaging Het
Osgin1 A G 8: 119,445,289 E274G probably damaging Het
Otof G A 5: 30,394,181 R343W probably damaging Het
Pcdha9 A T 18: 36,998,345 I156F probably damaging Het
Pcsk4 A G 10: 80,325,381 I233T possibly damaging Het
Samd4 A T 14: 47,074,010 S262C probably damaging Het
Snap91 T C 9: 86,790,154 probably null Het
Spata31d1a T C 13: 59,703,151 N388D probably benign Het
St3gal4 A G 9: 35,053,136 V190A possibly damaging Het
Sv2b T C 7: 75,117,722 N642S possibly damaging Het
Svil T A 18: 5,056,810 I561K probably benign Het
Tmem201 A T 4: 149,728,155 Y235N possibly damaging Het
Tpx2 T C 2: 152,869,724 S60P probably benign Het
Trpa1 T C 1: 14,910,746 Y144C probably benign Het
U90926 G A 5: 92,210,020 P91S probably benign Het
Utp20 G T 10: 88,746,934 H2780Q probably benign Het
Vmn1r215 T G 13: 23,076,527 F246V probably damaging Het
Vmn2r72 A G 7: 85,751,130 L237S probably damaging Het
Washc5 A G 15: 59,344,080 S817P probably damaging Het
Zbtb24 A G 10: 41,456,618 probably null Het
Zfp212 G A 6: 47,926,862 R127H probably damaging Het
Zfp740 G T 15: 102,208,279 probably null Het
Other mutations in Igkv4-80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02452:Igkv4-80 APN 6 69016832 missense probably benign 0.01
IGL02630:Igkv4-80 APN 6 69016696 nonsense probably null
IGL02711:Igkv4-80 APN 6 69016817 missense probably damaging 1.00
IGL02934:Igkv4-80 APN 6 69016856 missense probably benign 0.32
R4584:Igkv4-80 UTSW 6 69016736 missense probably damaging 1.00
R4873:Igkv4-80 UTSW 6 69016665 missense probably benign
R4875:Igkv4-80 UTSW 6 69016665 missense probably benign
R4925:Igkv4-80 UTSW 6 69016665 missense probably benign
R4934:Igkv4-80 UTSW 6 69016665 missense probably benign
R4992:Igkv4-80 UTSW 6 69016665 missense probably benign
R5020:Igkv4-80 UTSW 6 69016665 missense probably benign
R5061:Igkv4-80 UTSW 6 69016665 missense probably benign
R5063:Igkv4-80 UTSW 6 69016665 missense probably benign
R5097:Igkv4-80 UTSW 6 69016665 missense probably benign
R5164:Igkv4-80 UTSW 6 69016665 missense probably benign
R5165:Igkv4-80 UTSW 6 69016665 missense probably benign
R5169:Igkv4-80 UTSW 6 69016665 missense probably benign
R5170:Igkv4-80 UTSW 6 69016665 missense probably benign
R5171:Igkv4-80 UTSW 6 69016665 missense probably benign
R5172:Igkv4-80 UTSW 6 69016665 missense probably benign
R5203:Igkv4-80 UTSW 6 69016665 missense probably benign
R5204:Igkv4-80 UTSW 6 69016665 missense probably benign
R5205:Igkv4-80 UTSW 6 69016665 missense probably benign
R5257:Igkv4-80 UTSW 6 69016827 missense probably benign 0.01
R5258:Igkv4-80 UTSW 6 69016827 missense probably benign 0.01
R5380:Igkv4-80 UTSW 6 69016665 missense probably benign
R5381:Igkv4-80 UTSW 6 69016665 missense probably benign
R5382:Igkv4-80 UTSW 6 69016665 missense probably benign
R5383:Igkv4-80 UTSW 6 69016665 missense probably benign
R5415:Igkv4-80 UTSW 6 69016665 missense probably benign
R5416:Igkv4-80 UTSW 6 69016665 missense probably benign
R6778:Igkv4-80 UTSW 6 69016561 nonsense probably null
R7385:Igkv4-80 UTSW 6 69016715 missense probably damaging 1.00
R7507:Igkv4-80 UTSW 6 69016693 missense probably benign 0.02
Predicted Primers
Posted On2016-05-10