Incidental Mutation 'R7302:Igkv3-9'
ID567038
Institutional Source Beutler Lab
Gene Symbol Igkv3-9
Ensembl Gene ENSMUSG00000095338
Gene Nameimmunoglobulin kappa variable 3-9
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #R7302 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location70588189-70588777 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70588755 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 113 (M113V)
Ref Sequence ENSEMBL: ENSMUSP00000100199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103398]
Predicted Effect probably benign
Transcript: ENSMUST00000103398
AA Change: M113V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000100199
Gene: ENSMUSG00000095338
AA Change: M113V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 114 8.17e-18 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik C T 14: 36,095,349 P69S probably benign Het
Adam17 A G 12: 21,355,693 probably benign Het
AI314180 T C 4: 58,834,593 K762E probably benign Het
Bcl7a T A 5: 123,344,694 M22K probably benign Het
C6 T A 15: 4,796,950 C672S probably damaging Het
Capn11 C T 17: 45,643,812 R133H probably damaging Het
Ccdc102a A G 8: 94,913,438 L76P probably damaging Het
Cotl1 T G 8: 119,810,301 I125L probably benign Het
Dennd5a A T 7: 109,905,699 M868K probably damaging Het
Depdc5 T C 5: 32,979,508 I1374T probably damaging Het
Dhx36 T C 3: 62,479,393 Y646C probably benign Het
Egln2 A G 7: 27,164,885 V205A probably damaging Het
Eri2 T A 7: 119,786,786 M229L probably benign Het
Fancf C A 7: 51,861,704 R184L probably damaging Het
Fancl A T 11: 26,403,363 E86D probably damaging Het
Fignl2 T C 15: 101,053,378 D341G unknown Het
Gm14410 A T 2: 177,193,855 H205Q probably damaging Het
Gm4788 T C 1: 139,739,698 probably null Het
Haus1 T C 18: 77,760,966 N181D probably benign Het
Hmbox1 T C 14: 64,828,666 Y285C probably damaging Het
Ivd T C 2: 118,871,504 V139A probably benign Het
Limch1 A T 5: 66,959,599 Y119F probably benign Het
Lrp1 C T 10: 127,538,987 R4534Q probably benign Het
Mbd3l2 G A 9: 18,444,442 S21N probably benign Het
Mob1b A G 5: 88,753,177 N148D probably benign Het
Mylk4 A T 13: 32,720,565 D195E probably benign Het
Ndufa7 T C 17: 33,829,713 S50P probably benign Het
Nectin4 G T 1: 171,386,635 E453* probably null Het
Nell1 T G 7: 50,856,269 F741L probably benign Het
Ntng1 T A 3: 109,832,617 H369L possibly damaging Het
Plin4 T A 17: 56,102,330 M1297L probably benign Het
Pnp G A 14: 50,950,947 V193M probably damaging Het
Ppp1r10 T G 17: 35,930,881 S849R unknown Het
Rpgrip1 A G 14: 52,149,555 E981G unknown Het
Sbsn T C 7: 30,751,884 F108S probably benign Het
Scn11a A G 9: 119,806,951 M310T probably benign Het
Sf3b1 A G 1: 55,016,790 S97P probably benign Het
Sgsh A G 11: 119,347,699 V313A probably benign Het
Slc25a10 G T 11: 120,491,956 probably benign Het
Slc9a2 T A 1: 40,767,668 V705E possibly damaging Het
Surf2 G T 2: 26,918,882 C116F probably damaging Het
Tnks1bp1 T C 2: 85,052,354 I175T probably benign Het
Tnxb C T 17: 34,678,901 T841I probably benign Het
Ttll3 A G 6: 113,409,285 D693G probably damaging Het
Ust A G 10: 8,518,209 L64P probably damaging Het
Vmn1r77 C T 7: 12,042,056 S253F possibly damaging Het
Vmn2r66 A G 7: 85,005,215 M512T probably benign Het
Zfp13 C T 17: 23,581,062 G89D probably damaging Het
Zfp616 T A 11: 74,085,379 Y825N probably benign Het
Zfp865 A G 7: 5,029,253 Y79C possibly damaging Het
Zfyve26 A T 12: 79,251,168 F1916I probably damaging Het
Other mutations in Igkv3-9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02007:Igkv3-9 APN 6 70588461 splice site probably benign
IGL02589:Igkv3-9 APN 6 70588699 missense possibly damaging 0.90
R2509:Igkv3-9 UTSW 6 70588744 missense probably benign 0.03
R4411:Igkv3-9 UTSW 6 70588563 missense probably damaging 0.97
R5498:Igkv3-9 UTSW 6 70588743 missense probably benign
R7487:Igkv3-9 UTSW 6 70588522 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCAGCGAAAGTGTCAGTTTTGC -3'
(R):5'- CAGAGTCTTATGGCCTCAAGG -3'

Sequencing Primer
(F):5'- GCTGGTACAAGTTTAATGCACTG -3'
(R):5'- AGAGTCTTATGGCCTCAAGGTTTCTC -3'
Posted On2019-06-26