Incidental Mutation 'R5365:Igkv9-120'
ID 423079
Institutional Source Beutler Lab
Gene Symbol Igkv9-120
Ensembl Gene ENSMUSG00000094872
Gene Name immunoglobulin kappa chain variable 9-120
Synonyms Gm5571
MMRRC Submission 042943-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R5365 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 68026967-68027438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68027433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 116 (S116P)
Ref Sequence ENSEMBL: ENSMUSP00000100117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103316]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000103316
AA Change: S116P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100117
Gene: ENSMUSG00000094872
AA Change: S116P

DomainStartEndE-ValueType
IGv 40 112 9.99e-13 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,578,629 (GRCm39) E4877G probably damaging Het
Acss3 C T 10: 106,840,589 (GRCm39) A391T probably damaging Het
Bcan T C 3: 87,896,542 (GRCm39) Y718C probably damaging Het
Bnc2 T C 4: 84,329,666 (GRCm39) probably benign Het
Bpnt2 G A 4: 4,776,385 (GRCm39) T190I probably damaging Het
Card6 A G 15: 5,134,888 (GRCm39) V105A possibly damaging Het
Ceacam5 A G 7: 17,493,473 (GRCm39) Y832C probably damaging Het
Ces2e T C 8: 105,653,846 (GRCm39) probably null Het
Cpt1b A T 15: 89,304,310 (GRCm39) I480N possibly damaging Het
Csmd3 T C 15: 47,868,145 (GRCm39) T792A possibly damaging Het
Ctsq T A 13: 61,185,632 (GRCm39) I170F possibly damaging Het
Cyfip2 A G 11: 46,138,457 (GRCm39) S772P probably damaging Het
Cyp3a16 A C 5: 145,389,597 (GRCm39) M256R probably damaging Het
Dgkd C T 1: 87,863,138 (GRCm39) R62C probably damaging Het
Ephx3 A G 17: 32,408,223 (GRCm39) L67P probably damaging Het
Gpc2 A G 5: 138,273,885 (GRCm39) Y438H probably damaging Het
Hnrnpul2 T A 19: 8,798,080 (GRCm39) H145Q probably benign Het
Itgal A G 7: 126,904,522 (GRCm39) I332V probably damaging Het
Lrit1 A G 14: 36,784,099 (GRCm39) T476A probably benign Het
Lrp1b T C 2: 40,537,137 (GRCm39) H50R possibly damaging Het
Marchf7 T C 2: 60,064,258 (GRCm39) V178A possibly damaging Het
Mbtps2 G A X: 156,351,295 (GRCm39) T157M possibly damaging Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mill2 T C 7: 18,592,339 (GRCm39) V320A probably benign Het
Mtor G A 4: 148,634,587 (GRCm39) V2403M probably damaging Het
Nectin3 T A 16: 46,284,469 (GRCm39) K71* probably null Het
Or2g25 T A 17: 37,970,586 (GRCm39) I213F probably damaging Het
Otof T C 5: 30,539,144 (GRCm39) Y1090C probably damaging Het
Pigf A T 17: 87,331,136 (GRCm39) V62E possibly damaging Het
Pla1a A G 16: 38,237,569 (GRCm39) L43P probably benign Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Sbno1 TCCC TCC 5: 124,519,929 (GRCm39) probably null Het
Tgm4 A C 9: 122,895,866 (GRCm39) K223N probably damaging Het
Ttn G T 2: 76,744,990 (GRCm39) A5353E probably damaging Het
Ywhaq T C 12: 21,446,389 (GRCm39) E159G possibly damaging Het
Zdhhc12 A G 2: 29,983,521 (GRCm39) V27A probably damaging Het
Other mutations in Igkv9-120
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Igkv9-120 APN 6 68,026,971 (GRCm39) missense possibly damaging 0.67
IGL02248:Igkv9-120 APN 6 68,027,221 (GRCm39) missense probably damaging 1.00
IGL02410:Igkv9-120 APN 6 68,027,027 (GRCm39) splice site probably benign
IGL03093:Igkv9-120 APN 6 68,027,398 (GRCm39) missense probably damaging 1.00
R2847:Igkv9-120 UTSW 6 68,027,128 (GRCm39) splice site probably benign
R2848:Igkv9-120 UTSW 6 68,027,128 (GRCm39) splice site probably benign
R3749:Igkv9-120 UTSW 6 68,026,985 (GRCm39) missense probably benign 0.04
R3889:Igkv9-120 UTSW 6 68,027,362 (GRCm39) missense probably damaging 1.00
R4235:Igkv9-120 UTSW 6 68,027,317 (GRCm39) missense probably benign
R4270:Igkv9-120 UTSW 6 68,027,351 (GRCm39) missense possibly damaging 0.46
R4760:Igkv9-120 UTSW 6 68,027,351 (GRCm39) missense possibly damaging 0.46
R4767:Igkv9-120 UTSW 6 68,027,351 (GRCm39) missense possibly damaging 0.46
R4768:Igkv9-120 UTSW 6 68,027,351 (GRCm39) missense possibly damaging 0.46
R4769:Igkv9-120 UTSW 6 68,027,351 (GRCm39) missense possibly damaging 0.46
R5671:Igkv9-120 UTSW 6 68,027,257 (GRCm39) nonsense probably null
R7749:Igkv9-120 UTSW 6 68,027,172 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGTCAGTCTCACTTGTCGG -3'
(R):5'- CCTTCCAGAAGCATTGCATATGTG -3'

Sequencing Primer
(F):5'- GCTTAAACTGGCTTCAGCAG -3'
(R):5'- GTATTTTGTGTCTTAGGAGTCACCCC -3'
Posted On 2016-08-04