Incidental Mutation 'R9219:Igkv4-54'
ID 699363
Institutional Source Beutler Lab
Gene Symbol Igkv4-54
Ensembl Gene ENSMUSG00000094319
Gene Name immunoglobulin kappa chain variable 4-54
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.256) question?
Stock # R9219 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 69608632-69609162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69608689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 77 (M77L)
Ref Sequence ENSEMBL: ENSMUSP00000136516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177697] [ENSMUST00000199437]
AlphaFold J3QMZ0
PDB Structure Crystal structure of complex of the Bacillus anthracis major spore surface protein BclA with ScFv antibody fragment [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000177697
AA Change: M77L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136516
Gene: ENSMUSG00000094319
AA Change: M77L

DomainStartEndE-ValueType
IGv 18 89 2.09e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199437
AA Change: M99L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142893
Gene: ENSMUSG00000094319
AA Change: M99L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGv 40 111 8.7e-18 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alx1 A T 10: 102,858,121 (GRCm39) Y193N probably damaging Het
Cmtm2a A G 8: 105,008,101 (GRCm39) F116S probably damaging Het
Dennd4a A T 9: 64,796,376 (GRCm39) M801L probably damaging Het
Disp3 A G 4: 148,334,317 (GRCm39) V992A possibly damaging Het
Dop1b C A 16: 93,567,184 (GRCm39) R1322S probably damaging Het
Dusp7 T C 9: 106,248,212 (GRCm39) V280A probably damaging Het
Efcab3 A C 11: 104,836,691 (GRCm39) S3560R unknown Het
Flg A G 3: 93,198,406 (GRCm39) E245G possibly damaging Het
Garnl3 A G 2: 32,975,898 (GRCm39) S68P probably damaging Het
Grin1 T C 2: 25,187,678 (GRCm39) T582A possibly damaging Het
Hectd1 A G 12: 51,800,612 (GRCm39) C2069R probably damaging Het
Herc3 T A 6: 58,871,552 (GRCm39) I867K probably benign Het
Hmcn1 A T 1: 150,594,844 (GRCm39) probably null Het
Kcnmb4 G C 10: 116,309,372 (GRCm39) R19G probably damaging Het
Lamb3 A G 1: 193,010,232 (GRCm39) T282A probably damaging Het
Lrrc58 T A 16: 37,689,180 (GRCm39) L108Q probably damaging Het
Macf1 C A 4: 123,301,554 (GRCm39) A983S possibly damaging Het
Mcf2l A T 8: 13,061,383 (GRCm39) N794I probably damaging Het
Mroh3 A G 1: 136,119,377 (GRCm39) F469L probably benign Het
Muc5ac T A 7: 141,370,800 (GRCm39) C3244* probably null Het
Myo16 G T 8: 10,492,236 (GRCm39) R726L unknown Het
Naaa A G 5: 92,425,864 (GRCm39) V43A probably damaging Het
Naip2 A G 13: 100,297,213 (GRCm39) V941A probably benign Het
Nbea AC A 3: 55,998,393 (GRCm39) probably null Het
Nlrp4e T C 7: 23,020,941 (GRCm39) V476A possibly damaging Het
Or1e23 A C 11: 73,407,801 (GRCm39) S75A probably damaging Het
Pcdh20 T G 14: 88,706,255 (GRCm39) R348S probably benign Het
Pom121l12 C A 11: 14,549,809 (GRCm39) P172T probably damaging Het
Pramel26 G A 4: 143,537,303 (GRCm39) R343C probably benign Het
Prkd3 A G 17: 79,273,628 (GRCm39) S543P probably benign Het
Ptpn13 A G 5: 103,745,632 (GRCm39) Q2446R probably benign Het
Qrich2 A C 11: 116,335,900 (GRCm39) S345A possibly damaging Het
Ryr3 T C 2: 112,742,584 (GRCm39) E498G possibly damaging Het
Sh3d19 A G 3: 86,030,507 (GRCm39) T675A possibly damaging Het
Tasor T A 14: 27,186,344 (GRCm39) Y848N possibly damaging Het
Tdpoz8 A G 3: 92,981,531 (GRCm39) D109G probably damaging Het
Ubl3 T C 5: 148,443,270 (GRCm39) E96G probably damaging Het
Zfp780b T C 7: 27,663,806 (GRCm39) T250A probably benign Het
Zfp871 A T 17: 32,993,914 (GRCm39) N420K probably benign Het
Zfp949 C T 9: 88,451,723 (GRCm39) T431M probably damaging Het
Other mutations in Igkv4-54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02800:Igkv4-54 APN 6 69,608,862 (GRCm39) missense probably damaging 1.00
R5107:Igkv4-54 UTSW 6 69,608,914 (GRCm39) missense possibly damaging 0.65
R5669:Igkv4-54 UTSW 6 69,608,832 (GRCm39) missense possibly damaging 0.91
R7247:Igkv4-54 UTSW 6 69,608,842 (GRCm39) missense probably damaging 1.00
R7866:Igkv4-54 UTSW 6 69,608,740 (GRCm39) missense probably benign 0.23
R8996:Igkv4-54 UTSW 6 69,608,774 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AACACCCTGTGTGGACTTCTG -3'
(R):5'- GGACAAATTGTTCTCACCCAG -3'

Sequencing Primer
(F):5'- CTGTGTGGACTTCTGGAATCAAACC -3'
(R):5'- AATCCTGTCTGCATCTCCAGGG -3'
Posted On 2022-02-07