Incidental Mutation 'R5170:Igkv4-80'
ID 397498
Institutional Source Beutler Lab
Gene Symbol Igkv4-80
Ensembl Gene ENSMUSG00000076540
Gene Name immunoglobulin kappa variable 4-80
Synonyms Gm16729
MMRRC Submission 042750-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R5170 (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: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,745,969 (GRCm39) I51V probably benign Het
Agbl2 A G 2: 90,633,541 (GRCm39) K559R probably benign Het
Arhgap30 A G 1: 171,235,618 (GRCm39) D664G probably benign Het
BC034090 A G 1: 155,089,396 (GRCm39) V798A probably damaging Het
Bdp1 A T 13: 100,167,302 (GRCm39) C2237* probably null Het
C3 C T 17: 57,530,938 (GRCm39) V388M probably damaging Het
Ccdc170 G A 10: 4,464,200 (GRCm39) E60K probably damaging Het
Cdh8 G A 8: 100,006,182 (GRCm39) T135M probably damaging Het
Cep131 G T 11: 119,961,435 (GRCm39) A572E probably damaging Het
Clec16a A G 16: 10,559,655 (GRCm39) Y976C probably benign Het
Cplx3 G A 9: 57,522,902 (GRCm39) R153* probably null Het
Defa41 A T 8: 21,691,696 (GRCm39) D26V probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Eno3 A G 11: 70,553,040 (GRCm39) I393V probably benign Het
Fbxo47 A G 11: 97,748,520 (GRCm39) V305A probably benign Het
Fry G A 5: 150,353,319 (GRCm39) V1779M probably benign Het
Gtse1 T C 15: 85,748,465 (GRCm39) probably null Het
Gucy2e A T 11: 69,126,396 (GRCm39) L328Q probably damaging Het
Ifi207 T C 1: 173,558,064 (GRCm39) T225A unknown Het
Lamc3 A T 2: 31,777,356 (GRCm39) M1L probably benign Het
Myo16 A G 8: 10,619,745 (GRCm39) D1432G probably benign Het
Nwd2 A T 5: 63,963,380 (GRCm39) N988I probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Parp14 T C 16: 35,677,649 (GRCm39) E773G probably benign Het
Psen1 T A 12: 83,761,636 (GRCm39) M146K probably damaging Het
Ptx4 G A 17: 25,342,152 (GRCm39) R209Q probably benign Het
Slc13a2 T C 11: 78,291,634 (GRCm39) T340A probably damaging Het
St8sia1 T C 6: 142,909,434 (GRCm39) K21E probably damaging Het
Stxbp1 T C 2: 32,684,686 (GRCm39) D581G probably benign Het
Sumo2 G A 11: 115,425,486 (GRCm39) probably benign Het
Supt5 G A 7: 28,015,508 (GRCm39) P910S probably benign Het
Tbc1d30 T C 10: 121,142,743 (GRCm39) Q158R possibly damaging Het
Tenm2 T A 11: 35,915,633 (GRCm39) H1968L probably damaging Het
Trmt1 T C 8: 85,421,861 (GRCm39) Y220H probably damaging Het
Trp73 C T 4: 154,189,295 (GRCm39) E60K possibly damaging Het
Ttn A G 2: 76,617,413 (GRCm39) Y8026H probably damaging Het
Zar1l A G 5: 150,441,050 (GRCm39) probably null Het
Zfp740 T C 15: 102,117,640 (GRCm39) Y117H probably damaging Het
Zfp941 G A 7: 140,392,870 (GRCm39) probably benign Het
Zp1 C A 19: 10,897,918 (GRCm39) V8F possibly 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
R5171:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5172:Igkv4-80 UTSW 6 68,993,649 (GRCm39) missense probably benign
R5203: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