Incidental Mutation 'R5171:Igkv4-80'
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ID398707
Institutional Source Beutler Lab
Gene Symbol Igkv4-80
Ensembl Gene ENSMUSG00000076540
Gene Nameimmunoglobulin kappa variable 4-80
SynonymsGm16729
MMRRC Submission 042751-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #R5171 (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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C A 1: 130,742,847 Q269K probably benign Het
Acad9 T A 3: 36,074,398 I136N possibly damaging Het
Adtrp A G 13: 41,777,563 S183P probably damaging Het
Atp11b C T 3: 35,832,937 T690I probably damaging Het
Bcl2l12 G A 7: 44,991,394 probably benign Het
Btnl7-ps T A 17: 34,533,529 noncoding transcript Het
Ccl12 T C 11: 82,102,634 C33R probably damaging Het
Cdc25a T A 9: 109,877,161 S57R probably benign Het
Coro2a T A 4: 46,542,372 probably benign Het
Cpne6 T C 14: 55,512,148 V55A possibly damaging Het
Ddn A G 15: 98,806,326 S362P possibly damaging Het
Dmpk C G 7: 19,088,019 L301V probably benign Het
Dnase1l1 C T X: 74,277,038 probably null Het
Donson A G 16: 91,681,293 V258A possibly damaging Het
Gm3336 G A 8: 70,721,875 V163I probably benign Het
Gm8765 A T 13: 50,700,378 T91S possibly damaging Het
Gper1 C T 5: 139,426,658 R253C probably damaging Het
Gpsm1 T A 2: 26,327,464 probably benign Het
Hip1 A G 5: 135,440,302 S251P probably damaging Het
Ifi214 A G 1: 173,526,634 S157P possibly damaging Het
Kntc1 T C 5: 123,799,844 V1535A probably benign Het
Mbd3l1 A G 9: 18,485,134 N185S probably benign Het
Mnx1 T C 5: 29,474,853 Q252R unknown Het
Mroh3 A T 1: 136,191,656 L463Q possibly damaging Het
Myom1 T C 17: 71,099,972 V1030A possibly damaging Het
Olfr1134 T G 2: 87,656,544 I126L possibly damaging Het
Olfr411 T C 11: 74,346,814 T257A probably benign Het
Olfr988 T C 2: 85,353,770 D52G probably benign Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Ranbp17 A G 11: 33,217,419 Y1015H probably benign Het
Rasal1 C T 5: 120,663,764 T256I probably benign Het
Rexo5 T A 7: 119,823,779 I278N probably damaging Het
Rims2 T A 15: 39,437,103 S77T probably damaging Het
Sdk2 C T 11: 113,850,982 A804T probably benign Het
Slc24a2 T A 4: 86,996,634 I589F probably benign Het
Slc25a38 T A 9: 120,122,115 I217K probably benign Het
Slc5a7 T C 17: 54,276,676 T529A probably benign Het
Spata22 T A 11: 73,336,208 S83T probably damaging Het
Stac2 A T 11: 98,043,498 C127S possibly damaging Het
Tep1 T C 14: 50,824,802 H2531R probably benign Het
Tmem151a G T 19: 5,082,033 R382S probably damaging Het
Trim60 T C 8: 65,000,524 T358A probably benign Het
Unc13c T A 9: 73,757,954 M1048L probably benign Het
Usp29 T C 7: 6,962,075 S306P probably damaging Het
Zfp26 T C 9: 20,444,907 K35R probably benign Het
Zfp462 T A 4: 55,016,986 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
R4991: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
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 On2016-07-06