Incidental Mutation 'R7600:Igkv1-117'
ID 587962
Institutional Source Beutler Lab
Gene Symbol Igkv1-117
Ensembl Gene ENSMUSG00000094335
Gene Name immunoglobulin kappa variable 1-117
Synonyms Gm16797
MMRRC Submission 045642-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R7600 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 68098075-68098809 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68098100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 9 (V9E)
Ref Sequence ENSEMBL: ENSMUSP00000100118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103317]
AlphaFold A0A140T8M0
Predicted Effect possibly damaging
Transcript: ENSMUST00000103317
AA Change: V9E

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100118
Gene: ENSMUSG00000094335
AA Change: V9E

DomainStartEndE-ValueType
IGv 37 114 2.04e-18 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G A 8: 41,208,854 (GRCm39) V707I probably benign Het
Ahnak A T 19: 8,981,938 (GRCm39) D1074V possibly damaging Het
Aldh4a1 A G 4: 139,372,315 (GRCm39) M495V probably benign Het
Atxn1 T G 13: 45,710,536 (GRCm39) K799Q possibly damaging Het
Catsperg2 A T 7: 29,404,283 (GRCm39) S831T probably benign Het
Cldn1 T C 16: 26,179,669 (GRCm39) T133A probably benign Het
Clec12b A G 6: 129,353,226 (GRCm39) C254R probably damaging Het
Cnnm2 A T 19: 46,750,506 (GRCm39) T99S probably benign Het
Col6a4 T G 9: 105,944,198 (GRCm39) D1092A possibly damaging Het
Dnajc9 A G 14: 20,438,793 (GRCm39) L20P probably damaging Het
Dsp C A 13: 38,375,691 (GRCm39) Q1159K probably damaging Het
Dst C T 1: 34,306,011 (GRCm39) T4110I probably damaging Het
Epb42 A G 2: 120,852,307 (GRCm39) L562P probably damaging Het
Fras1 T C 5: 96,832,295 (GRCm39) Y1543H probably damaging Het
Kbtbd8 T A 6: 95,099,573 (GRCm39) Y361N probably damaging Het
Lrp1 C T 10: 127,391,575 (GRCm39) R2948H probably benign Het
Lrp10 G T 14: 54,706,852 (GRCm39) R563L possibly damaging Het
Mllt3 G T 4: 87,759,456 (GRCm39) H197Q probably benign Het
Myo18b G A 5: 113,025,969 (GRCm39) P27L unknown Het
Nlrp1a C A 11: 70,989,740 (GRCm39) R1110L probably damaging Het
Nol10 T G 12: 17,419,481 (GRCm39) D257E probably damaging Het
Olfm3 T C 3: 114,890,589 (GRCm39) V114A possibly damaging Het
Or2a57 C A 6: 43,212,770 (GRCm39) T76K probably damaging Het
Or2t43 T C 11: 58,458,162 (GRCm39) N3S probably benign Het
Pdzd2 G T 15: 12,372,820 (GRCm39) D2438E probably damaging Het
Prl7a2 T G 13: 27,843,264 (GRCm39) I180L possibly damaging Het
Ptch2 A T 4: 116,953,422 (GRCm39) probably benign Het
Snrpn A G 7: 59,638,351 (GRCm39) M1T probably null Het
Sntb1 A T 15: 55,655,584 (GRCm39) W211R possibly damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Sytl2 T C 7: 90,025,352 (GRCm39) S447P probably benign Het
Tas2r129 G T 6: 132,928,137 (GRCm39) G25* probably null Het
Tcstv7a A T 13: 120,290,232 (GRCm39) probably null Het
Tle2 T G 10: 81,422,147 (GRCm39) Y396* probably null Het
Trpm2 T C 10: 77,773,885 (GRCm39) K510R probably benign Het
Trpm3 A G 19: 22,903,458 (GRCm39) T1073A possibly damaging Het
Ttc24 A T 3: 87,979,320 (GRCm39) M1K probably null Het
Tubgcp5 A G 7: 55,458,261 (GRCm39) T391A probably benign Het
Vmn1r17 T C 6: 57,337,906 (GRCm39) E153G probably benign Het
Vmn1r232 A T 17: 21,133,999 (GRCm39) N200K possibly damaging Het
Zcwpw1 A T 5: 137,798,396 (GRCm39) K198* probably null Het
Zfp142 A G 1: 74,612,827 (GRCm39) V641A probably damaging Het
Zfp318 C T 17: 46,695,210 (GRCm39) A149V possibly damaging Het
Zfp608 T C 18: 55,121,092 (GRCm39) N165S probably damaging Het
Other mutations in Igkv1-117
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02285:Igkv1-117 APN 6 68,098,519 (GRCm39) missense probably benign 0.03
IGL03186:Igkv1-117 APN 6 68,098,783 (GRCm39) missense probably damaging 0.99
R7222:Igkv1-117 UTSW 6 68,098,733 (GRCm39) missense probably damaging 1.00
R7632:Igkv1-117 UTSW 6 68,098,792 (GRCm39) missense probably damaging 1.00
R8048:Igkv1-117 UTSW 6 68,098,786 (GRCm39) missense probably damaging 1.00
R8519:Igkv1-117 UTSW 6 68,098,766 (GRCm39) missense possibly damaging 0.83
Z1177:Igkv1-117 UTSW 6 68,098,578 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCCTTCTATACTGCAACACTAAAGGG -3'
(R):5'- GACCATCCAATGCATCCATGTC -3'

Sequencing Primer
(F):5'- CTGCAACACTAAAGGGAGCTTTTG -3'
(R):5'- CATTATAGTACATGTTCCCATCTGG -3'
Posted On 2019-10-24