Incidental Mutation 'R5107:Igkv4-54'
ID 393602
Institutional Source Beutler Lab
Gene Symbol Igkv4-54
Ensembl Gene ENSMUSG00000094319
Gene Name immunoglobulin kappa chain variable 4-54
Synonyms
MMRRC Submission 042695-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R5107 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 69608632-69609162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69608914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 24 (I24V)
Ref Sequence ENSEMBL: ENSMUSP00000142893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177697] [ENSMUST00000199437]
AlphaFold J3QMZ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000177697
AA Change: I2V

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136516
Gene: ENSMUSG00000094319
AA Change: I2V

DomainStartEndE-ValueType
IGv 18 89 2.09e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000199437
AA Change: I24V

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142893
Gene: ENSMUSG00000094319
AA Change: I24V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGv 40 111 8.7e-18 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,001,472 (GRCm39) N85S possibly damaging Het
Adgre1 A G 17: 57,708,977 (GRCm39) Y56C possibly damaging Het
Agbl5 C A 5: 31,049,822 (GRCm39) P257Q probably damaging Het
Angptl2 A T 2: 33,118,615 (GRCm39) M130L probably damaging Het
Atp6v1f T A 6: 29,468,198 (GRCm39) probably null Het
Ccdc78 G A 17: 26,006,454 (GRCm39) V133M possibly damaging Het
Clpx A G 9: 65,215,821 (GRCm39) K145E possibly damaging Het
Col18a1 T C 10: 76,913,057 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Ikzf3 A G 11: 98,381,302 (GRCm39) Y93H probably damaging Het
Isl2 T C 9: 55,449,570 (GRCm39) V82A probably benign Het
Kcnq2 A T 2: 180,750,340 (GRCm39) probably benign Het
Krt4 A T 15: 101,831,226 (GRCm39) M225K possibly damaging Het
Ksr2 T C 5: 117,827,673 (GRCm39) V484A probably benign Het
Lrba T A 3: 86,267,086 (GRCm39) V1592E possibly damaging Het
Lrrc7 G A 3: 157,867,533 (GRCm39) P736L probably damaging Het
Mettl8 A T 2: 70,795,901 (GRCm39) F376I probably damaging Het
Muc5b T A 7: 141,409,268 (GRCm39) H1117Q unknown Het
Myh7 T A 14: 55,223,881 (GRCm39) probably benign Het
Myod1 G T 7: 46,027,218 (GRCm39) A228S probably benign Het
Ntrk1 T C 3: 87,702,280 (GRCm39) T58A probably benign Het
Or12d17 A G 17: 37,777,144 (GRCm39) T16A probably damaging Het
Pdcd11 T A 19: 47,094,893 (GRCm39) V559E probably damaging Het
Pde10a A G 17: 9,163,802 (GRCm39) N191S probably damaging Het
Phf3 A G 1: 30,870,566 (GRCm39) S161P probably benign Het
Pias1 C A 9: 62,789,510 (GRCm39) A566S probably benign Het
Pik3c2g T C 6: 139,612,623 (GRCm39) probably benign Het
Pmp22 A G 11: 63,049,237 (GRCm39) E160G probably damaging Het
Polb T C 8: 23,135,062 (GRCm39) probably null Het
Prob1 T C 18: 35,785,989 (GRCm39) N755S possibly damaging Het
Rhou A T 8: 124,387,912 (GRCm39) K215* probably null Het
Scaper A G 9: 55,487,616 (GRCm39) S749P probably damaging Het
Selenop A G 15: 3,305,075 (GRCm39) E77G probably damaging Het
Sema3a C A 5: 13,627,572 (GRCm39) S490* probably null Het
Slc26a2 A G 18: 61,331,632 (GRCm39) Y600H probably damaging Het
Slfn8 A C 11: 82,907,976 (GRCm39) I189S probably damaging Het
Stab1 T A 14: 30,885,752 (GRCm39) probably null Het
Tbc1d13 G A 2: 30,036,733 (GRCm39) E205K probably damaging Het
Tex47 C T 5: 7,354,842 (GRCm39) R8W probably benign Het
Tmem198b T C 10: 128,638,156 (GRCm39) T136A probably benign Het
Trim36 T C 18: 46,305,705 (GRCm39) Q414R probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Ttn A G 2: 76,608,496 (GRCm39) I16063T probably damaging Het
Ttn A G 2: 76,693,905 (GRCm39) V321A possibly damaging Het
Ubox5 A G 2: 130,441,688 (GRCm39) L333P probably damaging Het
Vmn2r19 T A 6: 123,286,602 (GRCm39) Y78* probably null Het
Wnk4 A G 11: 101,166,364 (GRCm39) probably benign Het
Xirp2 A G 2: 67,340,054 (GRCm39) D765G probably damaging Het
Xirp2 G T 2: 67,342,205 (GRCm39) G1482V probably damaging Het
Znhit1 A G 5: 137,015,682 (GRCm39) V2A probably benign Het
Other mutations in Igkv4-54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02800:Igkv4-54 APN 6 69,608,862 (GRCm39) missense probably damaging 1.00
R5669:Igkv4-54 UTSW 6 69,608,832 (GRCm39) missense possibly damaging 0.91
R7247:Igkv4-54 UTSW 6 69,608,842 (GRCm39) missense probably damaging 1.00
R7866:Igkv4-54 UTSW 6 69,608,740 (GRCm39) missense probably benign 0.23
R8996:Igkv4-54 UTSW 6 69,608,774 (GRCm39) nonsense probably null
R9219:Igkv4-54 UTSW 6 69,608,689 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGATCCACTGCCACTGAAG -3'
(R):5'- CTAATCAGTGCCTCAGGTAACAG -3'

Sequencing Primer
(F):5'- TGCCACTGAAGCGAGCAG -3'
(R):5'- CATCTGAAAGTTGGGTGGTAT -3'
Posted On 2016-06-15