Incidental Mutation 'R4436:Igkv6-20'
ID 329523
Institutional Source Beutler Lab
Gene Symbol Igkv6-20
Ensembl Gene ENSMUSG00000076587
Gene Name immunoglobulin kappa variable 6-20
Synonyms
MMRRC Submission 041702-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R4436 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 70312825-70313463 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70313104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 23 (V23A)
Ref Sequence ENSEMBL: ENSMUSP00000100189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103388] [ENSMUST00000103389] [ENSMUST00000196599]
AlphaFold A0A140T8P2
Predicted Effect probably damaging
Transcript: ENSMUST00000103388
AA Change: V23A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100189
Gene: ENSMUSG00000076587
AA Change: V23A

DomainStartEndE-ValueType
IGv 38 110 4.84e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103389
SMART Domains Protein: ENSMUSP00000100190
Gene: ENSMUSG00000096594

DomainStartEndE-ValueType
IGv 18 96 6.58e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196599
SMART Domains Protein: ENSMUSP00000143247
Gene: ENSMUSG00000096594

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 116 2.7e-24 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 96% (54/56)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Aff3 T C 1: 38,248,768 (GRCm39) I779V possibly damaging Het
Asap1 T G 15: 64,221,692 (GRCm39) D15A probably benign Het
Ascc2 A G 11: 4,606,305 (GRCm39) D193G probably damaging Het
Bcl2a1d A T 9: 88,613,753 (GRCm39) M7K probably benign Het
Ccdc168 T C 1: 44,095,276 (GRCm39) I1941V probably benign Het
Ccdc85a T C 11: 28,526,457 (GRCm39) T384A probably benign Het
Cd86 T C 16: 36,441,194 (GRCm39) N91S probably benign Het
Cdk17 T A 10: 93,047,758 (GRCm39) probably null Het
Cemip T C 7: 83,636,637 (GRCm39) D332G probably null Het
Ces2f G A 8: 105,679,788 (GRCm39) R427H probably benign Het
Clec4a2 G A 6: 123,105,013 (GRCm39) probably null Het
Coa8 T A 12: 111,717,642 (GRCm39) D167E probably benign Het
Coq9 T C 8: 95,579,743 (GRCm39) F198L probably benign Het
Ddx24 C A 12: 103,390,233 (GRCm39) A253S probably damaging Het
Esyt3 A T 9: 99,240,078 (GRCm39) probably benign Het
Fat2 C A 11: 55,187,024 (GRCm39) G1274V probably damaging Het
Ggn A T 7: 28,870,976 (GRCm39) T132S probably damaging Het
Gm11568 T A 11: 99,749,421 (GRCm39) C209S unknown Het
Gm6931 T A 16: 49,245,225 (GRCm39) noncoding transcript Het
Gpr20 C T 15: 73,567,649 (GRCm39) V247I probably benign Het
Grm8 A T 6: 27,761,237 (GRCm39) V329E possibly damaging Het
Gtf2ird2 T C 5: 134,223,808 (GRCm39) L114P possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hivep3 C T 4: 119,953,120 (GRCm39) P479S probably benign Het
Ikbip T A 10: 90,937,751 (GRCm39) N141K probably damaging Het
Irag1 T C 7: 110,476,124 (GRCm39) E815G probably damaging Het
Krt77 A T 15: 101,773,904 (GRCm39) V250E probably damaging Het
Ltn1 A T 16: 87,202,502 (GRCm39) C1050S probably benign Het
Macf1 T C 4: 123,421,135 (GRCm39) I40V probably benign Het
Or2h2b-ps1 A G 17: 37,480,727 (GRCm39) F271L probably benign Het
Or4k15b T C 14: 50,272,287 (GRCm39) D191G probably damaging Het
Pi4ka T C 16: 17,100,246 (GRCm39) M1885V probably damaging Het
Plek A G 11: 16,942,972 (GRCm39) Y107H probably damaging Het
Ppp1r15a C T 7: 45,174,203 (GRCm39) V202M probably damaging Het
Ppp1r3e C A 14: 55,114,007 (GRCm39) A222S probably benign Het
Rac2 G T 15: 78,454,943 (GRCm39) Y32* probably null Het
Sdf4 T G 4: 156,093,404 (GRCm39) probably null Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Spic T A 10: 88,512,817 (GRCm39) R111S probably benign Het
Ssh3 A G 19: 4,315,394 (GRCm39) F315L probably damaging Het
Ttn T C 2: 76,595,253 (GRCm39) K11972R probably damaging Het
Tubd1 C T 11: 86,439,745 (GRCm39) S30F probably benign Het
Vmn1r17 G C 6: 57,337,719 (GRCm39) I166M possibly damaging Het
Vmn2r94 T C 17: 18,478,645 (GRCm39) Y34C probably damaging Het
Xpo7 G A 14: 70,906,869 (GRCm39) T945M probably damaging Het
Zfp316 C A 5: 143,239,803 (GRCm39) A739S probably damaging Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S probably benign Het
Other mutations in Igkv6-20
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4441:Igkv6-20 UTSW 6 70,313,101 (GRCm39) missense probably damaging 0.96
R5717:Igkv6-20 UTSW 6 70,313,412 (GRCm39) unclassified probably benign
R5997:Igkv6-20 UTSW 6 70,312,898 (GRCm39) missense possibly damaging 0.93
R6102:Igkv6-20 UTSW 6 70,312,853 (GRCm39) missense probably benign 0.00
R6228:Igkv6-20 UTSW 6 70,313,081 (GRCm39) missense possibly damaging 0.80
R9256:Igkv6-20 UTSW 6 70,313,417 (GRCm39) missense probably benign 0.05
R9674:Igkv6-20 UTSW 6 70,312,852 (GRCm39) missense possibly damaging 0.60
Predicted Primers PCR Primer
(F):5'- ATAATCTGCAAGGTCTTCAGCCTG -3'
(R):5'- GCCAATAGCATGCAGACAATG -3'

Sequencing Primer
(F):5'- TGCACACTGCTGATGGTC -3'
(R):5'- AAATCTTGCTGGCATATGCG -3'
Posted On 2015-07-21