Incidental Mutation 'R5520:Igkv1-135'
ID 431502
Institutional Source Beutler Lab
Gene Symbol Igkv1-135
Ensembl Gene ENSMUSG00000096336
Gene Name immunoglobulin kappa variable 1-135
Synonyms Igkv1-135
MMRRC Submission 043079-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5520 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 67586729-67587492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 67587324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 65 (P65L)
Ref Sequence ENSEMBL: ENSMUSP00000100104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103303]
AlphaFold A0A0B4J1H7
Predicted Effect possibly damaging
Transcript: ENSMUST00000103303
AA Change: P65L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100104
Gene: ENSMUSG00000096336
AA Change: P65L

DomainStartEndE-ValueType
IGv 38 115 6.01e-16 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.6%
  • 10x: 94.8%
  • 20x: 88.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 T A 4: 144,504,594 (GRCm39) T186S probably benign Het
AI467606 C T 7: 126,691,998 (GRCm39) P191L probably benign Het
Aoc1l1 C A 6: 48,952,728 (GRCm39) Q218K possibly damaging Het
Arl9 T C 5: 77,154,440 (GRCm39) V56A probably damaging Het
Cacng5 T C 11: 107,768,248 (GRCm39) Q253R probably benign Het
Cc2d1b T C 4: 108,483,556 (GRCm39) M331T possibly damaging Het
Cep97 A G 16: 55,735,659 (GRCm39) S380P probably benign Het
Clpx A T 9: 65,224,730 (GRCm39) K153* probably null Het
Dclk2 A G 3: 86,827,147 (GRCm39) S111P probably damaging Het
E2f7 A G 10: 110,595,806 (GRCm39) E167G probably damaging Het
Edn1 T C 13: 42,455,436 (GRCm39) probably null Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fbxw18 G T 9: 109,520,589 (GRCm39) H257N probably benign Het
Ftsj3 T C 11: 106,146,414 (GRCm39) T22A probably benign Het
Gm17019 A T 5: 15,082,819 (GRCm39) M45K possibly damaging Het
Gpr162 T C 6: 124,837,876 (GRCm39) D258G probably damaging Het
Grk1 T A 8: 13,459,305 (GRCm39) D285E probably benign Het
Herc6 A T 6: 57,624,105 (GRCm39) D625V possibly damaging Het
Lepr T C 4: 101,602,734 (GRCm39) L174P probably benign Het
Nphp3 A G 9: 103,901,872 (GRCm39) S689G probably benign Het
Or14c44 T A 7: 86,062,064 (GRCm39) S165T probably benign Het
Or5w20 T C 2: 87,726,753 (GRCm39) probably benign Het
Phf8-ps A G 17: 33,284,367 (GRCm39) Y812H probably benign Het
Plxnb2 T G 15: 89,051,746 (GRCm39) T158P possibly damaging Het
Pramel32 A C 4: 88,548,277 (GRCm39) S43A probably damaging Het
R3hcc1 T A 14: 69,936,057 (GRCm39) K437* probably null Het
Rnf213 C A 11: 119,324,325 (GRCm39) H1428Q probably damaging Het
Ro60 A T 1: 143,646,509 (GRCm39) S79T probably benign Het
Spata31e2 A T 1: 26,724,900 (GRCm39) N93K probably benign Het
Ssx2ip G A 3: 146,143,066 (GRCm39) R548H probably benign Het
Trim23 C T 13: 104,324,035 (GRCm39) R165C probably damaging Het
Ulk2 T G 11: 61,698,970 (GRCm39) T405P probably damaging Het
Unkl G A 17: 25,424,584 (GRCm39) V204I probably damaging Het
Vmn1r43 T C 6: 89,846,728 (GRCm39) T253A probably damaging Het
Zfp534 T C 4: 147,759,887 (GRCm39) I261V possibly damaging Het
Other mutations in Igkv1-135
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02570:Igkv1-135 APN 6 67,586,732 (GRCm39) missense probably benign
R2895:Igkv1-135 UTSW 6 67,587,332 (GRCm39) missense probably benign 0.18
R5955:Igkv1-135 UTSW 6 67,587,263 (GRCm39) missense possibly damaging 0.62
R7233:Igkv1-135 UTSW 6 67,587,332 (GRCm39) missense probably benign 0.16
R8378:Igkv1-135 UTSW 6 67,587,378 (GRCm39) missense possibly damaging 0.70
R8757:Igkv1-135 UTSW 6 67,587,470 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- TCAGGACCTTTGCACATGATTTTC -3'
(R):5'- ATTGCACATTGTCAGCTGGG -3'

Sequencing Primer
(F):5'- GCACATGATTTTCCACTATTGTATTG -3'
(R):5'- CCCCAGGCAAGGAAGTTTTTG -3'
Posted On 2016-10-05