Incidental Mutation 'R8378:Igkv1-135'
ID 646805
Institutional Source Beutler Lab
Gene Symbol Igkv1-135
Ensembl Gene ENSMUSG00000096336
Gene Name immunoglobulin kappa variable 1-135
Synonyms Igkv1-135
MMRRC Submission 067746-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8378 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 67586729-67587492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67587378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 83 (V83D)
Ref Sequence ENSEMBL: ENSMUSP00000100104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103303]
AlphaFold A0A0B4J1H7
Predicted Effect possibly damaging
Transcript: ENSMUST00000103303
AA Change: V83D

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000100104
Gene: ENSMUSG00000096336
AA Change: V83D

DomainStartEndE-ValueType
IGv 38 115 6.01e-16 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 59,886,967 (GRCm39) I491T probably damaging Het
Aadacl4fm4 C G 4: 144,397,169 (GRCm39) V188L probably benign Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Ankrd40 G T 11: 94,225,662 (GRCm39) G231V probably damaging Het
Ap1s3 T C 1: 79,601,445 (GRCm39) E82G probably damaging Het
Bmp3 A G 5: 99,003,248 (GRCm39) N93D probably damaging Het
Car9 C T 4: 43,509,021 (GRCm39) R224C probably damaging Het
Cass4 T C 2: 172,269,714 (GRCm39) C599R probably benign Het
Ccdc171 A G 4: 83,782,490 (GRCm39) N1261D possibly damaging Het
Cdc42bpa A G 1: 179,989,709 (GRCm39) D1726G probably damaging Het
Ceacam2 G A 7: 25,217,597 (GRCm39) A306V probably damaging Het
Crebrf G T 17: 26,981,263 (GRCm39) L546F probably damaging Het
Crhr2 A G 6: 55,069,941 (GRCm39) F370S probably damaging Het
Dhtkd1 T C 2: 5,922,699 (GRCm39) T487A probably benign Het
Diaph1 G A 18: 38,025,006 (GRCm39) A485V unknown Het
Dmbt1 T C 7: 130,708,195 (GRCm39) V1479A probably damaging Het
Efemp1 C T 11: 28,871,765 (GRCm39) R427W probably damaging Het
Gm11444 C A 11: 85,741,075 (GRCm39) W28L Het
Golga4 A G 9: 118,387,390 (GRCm39) D1504G probably benign Het
Hirip3 A G 7: 126,462,757 (GRCm39) S238G probably benign Het
Ippk T A 13: 49,589,055 (GRCm39) C183* probably null Het
Itgb3 A G 11: 104,533,142 (GRCm39) T419A possibly damaging Het
Kcnt1 A G 2: 25,797,283 (GRCm39) H129R probably benign Het
Kif18b A T 11: 102,807,299 (GRCm39) V12E probably damaging Het
Kif2b C A 11: 91,467,201 (GRCm39) G361C possibly damaging Het
Klhl30 A T 1: 91,285,494 (GRCm39) K339* probably null Het
Lrfn1 A G 7: 28,159,157 (GRCm39) I359V probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ndufaf2 C A 13: 108,189,387 (GRCm39) L120F probably damaging Het
Nlrp1b A G 11: 71,052,545 (GRCm39) V961A possibly damaging Het
Or12e10 T A 2: 87,640,394 (GRCm39) Y77N probably damaging Het
Or2h15 A G 17: 38,441,678 (GRCm39) V135A probably benign Het
Pcnx2 G A 8: 126,487,649 (GRCm39) P1785S probably damaging Het
Pcyt2 A G 11: 120,504,234 (GRCm39) Y170H probably benign Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Rfx8 T A 1: 39,709,581 (GRCm39) D482V probably damaging Het
Rilpl1 T C 5: 124,668,964 (GRCm39) Y28C probably damaging Het
Sgce G C 6: 4,689,760 (GRCm39) L394V probably damaging Het
Sgce T A 6: 4,691,525 (GRCm39) Y350F probably benign Het
Tbk1 A G 10: 121,414,597 (GRCm39) V39A probably damaging Het
Tns1 T A 1: 73,976,405 (GRCm39) I1148F probably damaging Het
Vmn1r192 T A 13: 22,372,029 (GRCm39) R64* probably null Het
Vmn2r68 A T 7: 84,871,108 (GRCm39) V725E probably benign Het
Yy1 A T 12: 108,759,562 (GRCm39) H75L unknown Het
Zwilch A T 9: 64,060,240 (GRCm39) V366D 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
R5520:Igkv1-135 UTSW 6 67,587,324 (GRCm39) missense possibly damaging 0.95
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
R8757:Igkv1-135 UTSW 6 67,587,470 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- CGGTGATGTTGTGATGACCC -3'
(R):5'- CAGACACAAGATGCTCTCTGCTC -3'

Sequencing Primer
(F):5'- GATGTTGTGATGACCCAGACTCC -3'
(R):5'- CCAGATTGCACATTGTCAGCTGG -3'
Posted On 2020-09-02