Incidental Mutation 'PIT4434001:Igkv7-33'
ID 555056
Institutional Source Beutler Lab
Gene Symbol Igkv7-33
Ensembl Gene ENSMUSG00000076575
Gene Name immunoglobulin kappa chain variable 7-33
Synonyms U29423
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # PIT4434001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 70035616-70036183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70035797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 62 (Y62H)
Ref Sequence ENSEMBL: ENSMUSP00000142396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103376] [ENSMUST00000197429]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000103376
AA Change: Y61H

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000100177
Gene: ENSMUSG00000076575
AA Change: Y61H

DomainStartEndE-ValueType
IGv 37 115 1.01e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000197429
AA Change: Y62H

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142396
Gene: ENSMUSG00000076575
AA Change: Y62H

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 116 4.1e-20 SMART
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.6%
  • 10x: 84.3%
  • 20x: 70.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik T A 11: 117,696,869 (GRCm39) D196E probably benign Het
Abcb5 G A 12: 118,854,422 (GRCm39) S831F probably damaging Het
Alg2 C A 4: 47,474,076 (GRCm39) A71S probably benign Het
Ankrd50 T C 3: 38,509,412 (GRCm39) Q62R possibly damaging Het
Ano1 A G 7: 144,164,632 (GRCm39) V664A probably benign Het
Bbox1 A C 2: 110,105,979 (GRCm39) D188E probably benign Het
Bmi1 C T 2: 18,689,042 (GRCm39) T242M probably benign Het
C4bp A G 1: 130,584,947 (GRCm39) F30L probably benign Het
Carmil3 A G 14: 55,732,145 (GRCm39) N214S probably null Het
Cep162 C A 9: 87,075,701 (GRCm39) K1310N probably damaging Het
Cfap74 G A 4: 155,548,421 (GRCm39) V21M unknown Het
Copa A G 1: 171,933,742 (GRCm39) D401G probably benign Het
Cyp4f14 A G 17: 33,125,104 (GRCm39) V439A possibly damaging Het
Ddhd1 A C 14: 45,848,062 (GRCm39) N569K possibly damaging Het
Dennd5a A G 7: 109,532,831 (GRCm39) L313P probably damaging Het
Eri2 A G 7: 119,385,524 (GRCm39) F326L probably benign Het
Fam135a A T 1: 24,068,276 (GRCm39) H864Q probably benign Het
Fat3 C T 9: 15,907,612 (GRCm39) V2797I probably benign Het
Fbn2 T C 18: 58,229,134 (GRCm39) D692G probably damaging Het
Fbxw20 A G 9: 109,052,500 (GRCm39) S278P probably damaging Het
Gna12 A T 5: 140,746,773 (GRCm39) V224E probably damaging Het
Grn C T 11: 102,326,766 (GRCm39) H482Y possibly damaging Het
Kdm4c A G 4: 74,189,569 (GRCm39) T95A probably benign Het
Lrp3 T C 7: 34,903,420 (GRCm39) T309A probably damaging Het
Map3k2 C A 18: 32,343,088 (GRCm39) D279E possibly damaging Het
Map3k5 T A 10: 19,902,003 (GRCm39) V358E probably damaging Het
Mcpt9 A G 14: 56,266,686 (GRCm39) S14P probably benign Het
Or10b1 T C 10: 78,355,549 (GRCm39) F36L possibly damaging Het
Or51a8 T C 7: 102,549,837 (GRCm39) F88L probably benign Het
Or52a33 A C 7: 103,289,054 (GRCm39) C98G probably damaging Het
Otud7b G A 3: 96,047,776 (GRCm39) R45H probably damaging Het
Pcdhb17 A G 18: 37,618,704 (GRCm39) N165D probably damaging Het
Pogz A G 3: 94,779,681 (GRCm39) T538A probably damaging Het
Prlr A G 15: 10,328,458 (GRCm39) E311G probably damaging Het
Ptprs T C 17: 56,761,984 (GRCm39) I43V probably null Het
Raet1d A T 10: 22,247,433 (GRCm39) K170* probably null Het
Rufy2 A T 10: 62,826,845 (GRCm39) Q128L possibly damaging Het
Svopl T C 6: 37,991,801 (GRCm39) N360D possibly damaging Het
Syt4 A C 18: 31,573,384 (GRCm39) L377W probably damaging Het
Taar7a A G 10: 23,869,319 (GRCm39) F21L probably benign Het
Tax1bp3 T A 11: 73,071,630 (GRCm39) M78K probably damaging Het
Top2b T C 14: 16,423,780 (GRCm38) probably null Het
Trim52 A T 14: 106,344,732 (GRCm39) D130V probably benign Het
Ttc1 T C 11: 43,635,955 (GRCm39) Y96C probably damaging Het
Vmn2r49 T C 7: 9,710,762 (GRCm39) T657A probably damaging Het
Vps13d A T 4: 144,881,817 (GRCm39) F1259I Het
Zbtb18 A T 1: 177,275,989 (GRCm39) T441S possibly damaging Het
Other mutations in Igkv7-33
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1520:Igkv7-33 UTSW 6 70,036,132 (GRCm39) splice site probably benign
R6936:Igkv7-33 UTSW 6 70,035,785 (GRCm39) missense possibly damaging 0.88
R7635:Igkv7-33 UTSW 6 70,036,138 (GRCm39) missense probably benign 0.43
R7866:Igkv7-33 UTSW 6 70,035,847 (GRCm39) missense probably damaging 0.98
R9384:Igkv7-33 UTSW 6 70,036,174 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- AGGATAGCTGTAAAACTGTGCAC -3'
(R):5'- ACTCTGACAGCATGATATTGCAAAG -3'

Sequencing Primer
(F):5'- GCACAGTAATAATGTGTGAGGTCTTC -3'
(R):5'- AACTGCTGCTATATTCCGTGTTTG -3'
Posted On 2019-06-07