Incidental Mutation 'R8526:Igkv4-72'
ID 658807
Institutional Source Beutler Lab
Gene Symbol Igkv4-72
Ensembl Gene ENSMUSG00000076545
Gene Name immunoglobulin kappa chain variable 4-72
Synonyms Gm1499, LOC385109
MMRRC Submission 067951-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R8526 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 69203838-69204367 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69204140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 17 (V17A)
Ref Sequence ENSEMBL: ENSMUSP00000100147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103346]
AlphaFold A0A0B4J1I4
Predicted Effect probably benign
Transcript: ENSMUST00000103346
AA Change: V17A

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000100147
Gene: ENSMUSG00000076545
AA Change: V17A

DomainStartEndE-ValueType
IGv 40 111 1.04e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,417,935 (GRCm39) C706* probably null Het
4930522L14Rik T C 5: 109,885,655 (GRCm39) I68V possibly damaging Het
4931422A03Rik G A 2: 103,856,499 (GRCm39) R21C unknown Het
Actr5 T G 2: 158,474,224 (GRCm39) F342L probably damaging Het
Adamts13 T C 2: 26,868,012 (GRCm39) V124A probably benign Het
Amotl1 T C 9: 14,473,492 (GRCm39) E606G probably damaging Het
Carmil2 C T 8: 106,415,447 (GRCm39) A265V probably damaging Het
Cdh22 T C 2: 164,954,178 (GRCm39) E781G probably damaging Het
Dennd1b G A 1: 138,950,858 (GRCm39) W33* probably null Het
Dlc1 C T 8: 37,404,968 (GRCm39) V274I probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Ect2l C T 10: 18,020,375 (GRCm39) E582K probably benign Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Ift88 A T 14: 57,683,126 (GRCm39) K40* probably null Het
Klhl28 T G 12: 64,998,400 (GRCm39) T365P probably damaging Het
Krt16 T A 11: 100,137,309 (GRCm39) Y434F probably benign Het
Lyst T A 13: 13,935,391 (GRCm39) V3620E probably damaging Het
Mcm9 A T 10: 53,506,221 (GRCm39) probably benign Het
Mef2a T C 7: 66,901,473 (GRCm39) M100V possibly damaging Het
Mos T C 4: 3,871,709 (GRCm39) K36E probably damaging Het
Ncapg2 T C 12: 116,403,679 (GRCm39) Y864H probably benign Het
Or1o2 A G 17: 37,542,470 (GRCm39) S264P probably damaging Het
Or4k2 C T 14: 50,423,719 (GRCm39) probably null Het
Parp14 A T 16: 35,661,307 (GRCm39) I1547N possibly damaging Het
Pcdh18 A T 3: 49,710,023 (GRCm39) Y431N probably damaging Het
Phyhd1 T C 2: 30,156,955 (GRCm39) probably null Het
Pkd2 T C 5: 104,637,102 (GRCm39) F572L probably damaging Het
Rasgrf1 T A 9: 89,856,901 (GRCm39) I453N probably damaging Het
Robo4 T A 9: 37,314,801 (GRCm39) C218* probably null Het
Rrbp1 A G 2: 143,816,403 (GRCm39) V742A probably benign Het
Serpinb3a A T 1: 106,976,504 (GRCm39) probably null Het
Sgsm2 T G 11: 74,759,847 (GRCm39) E97A probably benign Het
Smad4 A T 18: 73,790,330 (GRCm39) probably null Het
Snd1 T C 6: 28,745,253 (GRCm39) Y533H probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Stk36 A G 1: 74,673,703 (GRCm39) T1199A probably benign Het
Veph1 T A 3: 66,066,737 (GRCm39) N417I probably benign Het
Vmn1r8 A G 6: 57,013,362 (GRCm39) S138G probably benign Het
Vmn2r10 C T 5: 109,145,572 (GRCm39) V512I possibly damaging Het
Zfp740 A G 15: 102,116,726 (GRCm39) D47G probably null Het
Zfp810 T C 9: 22,189,586 (GRCm39) K441E probably damaging Het
Other mutations in Igkv4-72
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7330:Igkv4-72 UTSW 6 69,204,087 (GRCm39) missense probably damaging 1.00
R8765:Igkv4-72 UTSW 6 69,203,894 (GRCm39) missense probably benign 0.17
R9268:Igkv4-72 UTSW 6 69,203,980 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCCAGAAGCCAGGTTGGATG -3'
(R):5'- AGTGCAGATTTTCAGCTTCCTG -3'

Sequencing Primer
(F):5'- CCAGGTTGGATGTGGCATAAATCC -3'
(R):5'- CTGCTAATCAGTGCTTCAGGTAACAG -3'
Posted On 2021-01-18