Incidental Mutation 'R5382:Igkv4-80'
ID424780
Institutional Source Beutler Lab
Gene Symbol Igkv4-80
Ensembl Gene ENSMUSG00000076540
Gene Nameimmunoglobulin kappa variable 4-80
SynonymsGm16729
MMRRC Submission 042957-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #R5382 (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: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik G T 6: 149,326,460 E335* probably null Het
Acp7 G A 7: 28,615,419 P250S possibly damaging Het
Actn2 T A 13: 12,308,951 M133L probably benign Het
AI314180 A T 4: 58,850,934 M413K probably benign Het
Arhgap32 A T 9: 32,152,010 K105M probably damaging Het
BC034090 A G 1: 155,225,603 V305A probably benign Het
Brd1 G A 15: 88,729,564 T376M probably damaging Het
Cbl C T 9: 44,159,021 A505T probably benign Het
Cga G T 4: 34,904,048 M14I probably benign Het
Cluh T C 11: 74,665,109 probably benign Het
Col14a1 A T 15: 55,362,436 D165V unknown Het
Cp T C 3: 19,978,925 W639R probably damaging Het
Cyp7b1 T A 3: 18,097,221 D276V possibly damaging Het
Dctd C T 8: 48,137,414 probably benign Het
Erc1 T A 6: 119,761,272 M509L probably benign Het
Evi5l A G 8: 4,178,653 probably benign Het
Exoc6 T C 19: 37,598,679 probably null Het
Gm38706 C T 6: 130,483,781 noncoding transcript Het
Gpr183 T C 14: 121,954,921 T63A possibly damaging Het
Gpr63 T A 4: 25,007,952 D225E probably benign Het
Grb14 T A 2: 64,914,734 K93N probably damaging Het
Kif28 C T 1: 179,700,282 G768D probably damaging Het
Krt79 A T 15: 101,931,440 D373E probably benign Het
Mro G A 18: 73,876,822 S187N probably benign Het
Ms4a14 G T 19: 11,303,057 D712E possibly damaging Het
Narfl A G 17: 25,776,920 probably benign Het
Ndufaf1 T C 2: 119,660,412 T56A possibly damaging Het
Nell2 A T 15: 95,229,210 D761E probably damaging Het
Numb A G 12: 83,808,205 F116L probably damaging Het
Olfr1016 T C 2: 85,800,148 N41D probably damaging Het
Olfr1065 A G 2: 86,445,316 L222P probably damaging Het
Olfr1219 A G 2: 89,074,735 Y119H probably damaging Het
Olfr235 A T 19: 12,268,409 M60L possibly damaging Het
Olfr410 T A 11: 74,334,980 M84L probably benign Het
Olfr798 T A 10: 129,626,007 D18V probably damaging Het
Otog A C 7: 46,249,004 N182T probably damaging Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Padi6 A T 4: 140,731,210 V457E probably damaging Het
Pex16 G A 2: 92,377,530 R109H possibly damaging Het
Phactr1 T C 13: 43,135,219 probably benign Het
Phf20 G A 2: 156,267,497 E255K probably damaging Het
Pim1 A G 17: 29,491,483 probably benign Het
Prr23a2 T A 9: 98,857,176 Y196N probably damaging Het
Prune2 A T 19: 17,003,659 N60I probably damaging Het
Ptprb T A 10: 116,353,871 Y1812N probably damaging Het
Rab11fip4 A G 11: 79,690,715 Y512C possibly damaging Het
Rft1 T C 14: 30,666,782 V221A probably benign Het
Tacr2 T C 10: 62,261,497 M252T probably damaging Het
Tgfbrap1 A G 1: 43,075,865 I25T probably benign Het
Th A G 7: 142,895,440 F191S probably damaging Het
Trim3 C A 7: 105,618,347 R275L probably benign Het
Trpm3 A G 19: 22,885,341 probably null Het
Wars A T 12: 108,882,780 D80E probably benign Het
Wdr90 T A 17: 25,845,598 Y1806F probably damaging Het
Zfp644 A T 5: 106,634,869 I1182N possibly damaging 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
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
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
R7994:Igkv4-80 UTSW 6 69016637 missense probably benign 0.04
Predicted Primers
Posted On2016-08-04