Incidental Mutation 'R4347:Igkv10-96'
ID 328365
Institutional Source Beutler Lab
Gene Symbol Igkv10-96
Ensembl Gene ENSMUSG00000094420
Gene Name immunoglobulin kappa variable 10-96
Synonyms Gm16637
MMRRC Submission 041102-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R4347 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 68608949-68609414 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68609164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 44 (R44W)
Ref Sequence ENSEMBL: ENSMUSP00000100129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103328]
AlphaFold A0A140T8M1
Predicted Effect probably benign
Transcript: ENSMUST00000103328
AA Change: R44W

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000100129
Gene: ENSMUSG00000094420
AA Change: R44W

DomainStartEndE-ValueType
low complexity region 8 13 N/A INTRINSIC
IGv 38 110 1.94e-19 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik C T 11: 3,840,122 (GRCm39) V92M probably damaging Het
4930503E14Rik C A 14: 44,408,635 (GRCm39) R66S probably damaging Het
Abca5 A T 11: 110,190,794 (GRCm39) I772N probably damaging Het
Acox1 T C 11: 116,089,487 (GRCm39) N15S probably benign Het
Arhgap28 C T 17: 68,180,137 (GRCm39) V233I probably benign Het
Chil4 T C 3: 106,110,144 (GRCm39) I317V probably benign Het
Dvl3 G A 16: 20,350,049 (GRCm39) R645H possibly damaging Het
Efl1 A T 7: 82,347,174 (GRCm39) M567L probably damaging Het
Gal3st2b C T 1: 93,867,530 (GRCm39) T59I probably damaging Het
Gm7135 T A 1: 97,276,035 (GRCm39) noncoding transcript Het
Gpihbp1 T G 15: 75,470,017 (GRCm39) *124G probably null Het
Igkv13-84 T A 6: 68,916,760 (GRCm39) I19K probably benign Het
Kcnab1 A G 3: 65,204,896 (GRCm39) probably benign Het
Kif1b C A 4: 149,331,691 (GRCm39) G545C probably damaging Het
Mprip T C 11: 59,650,279 (GRCm39) S1328P possibly damaging Het
Nrp1 T C 8: 129,207,472 (GRCm39) probably null Het
Olfml1 C T 7: 107,167,040 (GRCm39) P23L probably benign Het
Plekhh2 G A 17: 84,927,130 (GRCm39) A1457T probably benign Het
Prr27 A G 5: 87,990,531 (GRCm39) I40V possibly damaging Het
Slc25a54 A G 3: 109,010,055 (GRCm39) T185A possibly damaging Het
Srek1 C T 13: 103,885,267 (GRCm39) G396D probably null Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Trim3 C T 7: 105,268,594 (GRCm39) G120D probably damaging Het
Usp5 T A 6: 124,798,158 (GRCm39) Q409L probably damaging Het
Vim T G 2: 13,580,329 (GRCm39) probably benign Het
Other mutations in Igkv10-96
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01456:Igkv10-96 APN 6 68,609,086 (GRCm39) missense probably benign 0.04
R1555:Igkv10-96 UTSW 6 68,609,365 (GRCm39) critical splice donor site probably benign
R5229:Igkv10-96 UTSW 6 68,609,223 (GRCm39) missense possibly damaging 0.88
R6396:Igkv10-96 UTSW 6 68,608,969 (GRCm39) nonsense probably null
R6623:Igkv10-96 UTSW 6 68,609,158 (GRCm39) missense probably damaging 0.97
R7183:Igkv10-96 UTSW 6 68,609,200 (GRCm39) missense probably benign 0.39
R7194:Igkv10-96 UTSW 6 68,609,028 (GRCm39) missense possibly damaging 0.80
R7866:Igkv10-96 UTSW 6 68,609,025 (GRCm39) missense possibly damaging 0.95
R8325:Igkv10-96 UTSW 6 68,609,088 (GRCm39) missense possibly damaging 0.93
R9669:Igkv10-96 UTSW 6 68,608,957 (GRCm39) missense probably benign 0.00
R9678:Igkv10-96 UTSW 6 68,609,224 (GRCm39) missense probably benign 0.05
R9737:Igkv10-96 UTSW 6 68,608,957 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTCCAGGTTGCTAATGGTG -3'
(R):5'- GACATGATGTCCTCTGCTCAG -3'

Sequencing Primer
(F):5'- GTGAGAGAATAATCTGTTCCAGACCC -3'
(R):5'- ACTACAATGGGAATTTTGCTGTTGC -3'
Posted On 2015-07-07