Incidental Mutation 'R5203:Igkv4-80'
ID 398250
Institutional Source Beutler Lab
Gene Symbol Igkv4-80
Ensembl Gene ENSMUSG00000076540
Gene Name immunoglobulin kappa variable 4-80
Synonyms Gm16729
MMRRC Submission 042778-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R5203 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 68993542-68994064 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 68993649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 81 (S81A)
Ref Sequence ENSEMBL: ENSMUSP00000100142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103341]
AlphaFold A0A075B5L7
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T G 16: 4,653,462 (GRCm39) S4A unknown Het
Adgrv1 A T 13: 81,659,024 (GRCm39) N2053K possibly damaging Het
Akr1c13 C T 13: 4,247,896 (GRCm39) R223* probably null Het
Arhgef11 A G 3: 87,642,664 (GRCm39) Y1370C probably damaging Het
Arid1a T C 4: 133,409,314 (GRCm39) E1731G unknown Het
Cyp2c54 A T 19: 40,060,918 (GRCm39) V75E probably damaging Het
Fa2h A G 8: 112,075,996 (GRCm39) M209T probably benign Het
Fam171a1 T C 2: 3,224,582 (GRCm39) I311T probably damaging Het
Fat3 C A 9: 16,289,438 (GRCm39) L28F possibly damaging Het
Fntb C A 12: 76,884,346 (GRCm39) P22Q probably benign Het
Gmeb1 T C 4: 131,959,320 (GRCm39) probably null Het
Gpr22 A G 12: 31,759,787 (GRCm39) S112P probably damaging Het
Htr7 A G 19: 35,941,792 (GRCm39) S464P probably benign Het
Krt79 A G 15: 101,838,175 (GRCm39) S527P unknown Het
Lnpep A T 17: 17,757,325 (GRCm39) D858E probably damaging Het
Ly9 C A 1: 171,427,347 (GRCm39) V403F probably damaging Het
Mindy4 A G 6: 55,232,646 (GRCm39) Q363R probably benign Het
Mtmr10 G A 7: 63,967,909 (GRCm39) V273I probably benign Het
Mup2 T A 4: 60,139,728 (GRCm39) E20V probably damaging Het
Myo16 A G 8: 10,410,995 (GRCm39) N151S probably damaging Het
Nod2 A C 8: 89,391,079 (GRCm39) D462A probably damaging Het
Nt5c2 A G 19: 46,878,247 (GRCm39) Y497H probably damaging Het
Or12d2 A T 17: 37,625,092 (GRCm39) L61Q probably damaging Het
Or4k44 A C 2: 111,367,981 (GRCm39) Y218D probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhac1 A T 18: 37,224,243 (GRCm39) D352V probably damaging Het
Psap A G 10: 60,130,755 (GRCm39) D195G probably damaging Het
Scyl1 G A 19: 5,821,395 (GRCm39) probably benign Het
Sh3bgr A G 16: 96,025,720 (GRCm39) probably benign Het
Slc2a12 G T 10: 22,521,213 (GRCm39) probably null Het
Slc2a12 G C 10: 22,568,117 (GRCm39) V515L probably benign Het
Ttc17 T C 2: 94,209,061 (GRCm39) Y131C probably damaging Het
Ttc27 A G 17: 75,084,649 (GRCm39) D419G probably damaging Het
Ubxn8 T C 8: 34,123,639 (GRCm39) E100G probably damaging Het
Zpbp T C 11: 11,358,451 (GRCm39) E272G probably damaging Het
Other mutations in Igkv4-80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02452:Igkv4-80 APN 6 68,993,816 (GRCm39) missense probably benign 0.01
IGL02630:Igkv4-80 APN 6 68,993,680 (GRCm39) nonsense probably null
IGL02711:Igkv4-80 APN 6 68,993,801 (GRCm39) missense probably damaging 1.00
IGL02934:Igkv4-80 APN 6 68,993,840 (GRCm39) missense probably benign 0.32
R4584:Igkv4-80 UTSW 6 68,993,720 (GRCm39) missense probably damaging 1.00
R4873:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R4875:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R4925:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R4934:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R4991:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R4992:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5020:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5061:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5063:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5097:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5164:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5165:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5169:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5170:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5171:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5172:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5204:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5205:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5257:Igkv4-80 UTSW 6 68,993,811 (GRCm39) missense probably benign 0.01
R5258:Igkv4-80 UTSW 6 68,993,811 (GRCm39) missense probably benign 0.01
R5380:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5381:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5382:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5383:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5415:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5416:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R6778:Igkv4-80 UTSW 6 68,993,545 (GRCm39) nonsense probably null
R7385:Igkv4-80 UTSW 6 68,993,699 (GRCm39) missense probably damaging 1.00
R7507:Igkv4-80 UTSW 6 68,993,677 (GRCm39) missense probably benign 0.02
R7994:Igkv4-80 UTSW 6 68,993,621 (GRCm39) missense probably benign 0.04
R9323:Igkv4-80 UTSW 6 68,993,751 (GRCm39) missense probably damaging 1.00
R9439:Igkv4-80 UTSW 6 68,993,793 (GRCm39) missense probably benign 0.00
R9484:Igkv4-80 UTSW 6 68,993,766 (GRCm39) missense probably damaging 0.99
Predicted Primers
Posted On 2016-07-06