Incidental Mutation 'IGL02800:Igkv4-54'
ID360133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv4-54
Ensembl Gene ENSMUSG00000094319
Gene Nameimmunoglobulin kappa chain variable 4-54
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.285) question?
Stock #IGL02800
Quality Score
Status
Chromosome6
Chromosomal Location69631646-69631933 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69631878 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 41 (V41A)
Ref Sequence ENSEMBL: ENSMUSP00000142893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177697] [ENSMUST00000199437]
Predicted Effect probably damaging
Transcript: ENSMUST00000177697
AA Change: V19A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136516
Gene: ENSMUSG00000094319
AA Change: V19A

DomainStartEndE-ValueType
IGv 18 89 2.09e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000199437
AA Change: V41A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142893
Gene: ENSMUSG00000094319
AA Change: V41A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGv 40 111 8.7e-18 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,420,605 I1045T probably damaging Het
Ankrd22 T C 19: 34,165,781 probably benign Het
Bahcc1 A G 11: 120,272,934 D686G probably damaging Het
Carns1 A G 19: 4,166,570 probably benign Het
Cc2d1b C T 4: 108,626,136 L306F probably benign Het
Ccdc153 A G 9: 44,245,832 E135G probably damaging Het
Ccne1 T C 7: 38,102,799 D148G probably damaging Het
Cfap57 A T 4: 118,614,750 M144K probably damaging Het
Chd6 A G 2: 160,984,632 V1049A probably damaging Het
Cpne9 A G 6: 113,302,073 D476G probably benign Het
Dna2 T C 10: 62,961,725 probably null Het
Eif4h T C 5: 134,627,605 D77G probably benign Het
Fam208b T C 13: 3,585,154 N551S probably benign Het
Fhl2 C T 1: 43,128,402 R177Q probably benign Het
Fxyd5 C T 7: 31,032,979 R176H possibly damaging Het
G6pd2 A G 5: 61,809,392 E170G probably damaging Het
Haus3 A G 5: 34,166,324 I314T possibly damaging Het
Kidins220 T A 12: 25,003,093 C461S probably damaging Het
Lsr T C 7: 30,958,413 D442G probably damaging Het
Mecom T C 3: 29,961,034 I847V probably damaging Het
Mia2 C T 12: 59,188,491 R1326* probably null Het
Myo15 C A 11: 60,502,369 H2240N probably damaging Het
Olfr1318 A T 2: 112,156,244 I98F possibly damaging Het
Olfr23 A G 11: 73,941,116 Y290C probably damaging Het
Osgep T A 14: 50,915,857 probably benign Het
Pcnt G A 10: 76,412,583 Q901* probably null Het
Pgm3 T C 9: 86,555,378 E481G possibly damaging Het
Plch1 T A 3: 63,698,478 D1326V probably benign Het
Rabgap1l T C 1: 160,472,053 D590G possibly damaging Het
Rapsn A G 2: 91,043,239 M244V probably benign Het
Rcbtb2 T A 14: 73,168,103 Y299* probably null Het
Slc8a1 A T 17: 81,408,323 D760E probably benign Het
Smim23 C A 11: 32,824,424 probably null Het
Sva A G 6: 42,040,135 T59A unknown Het
Tacc2 T A 7: 130,624,079 D831E probably benign Het
Tg G T 15: 66,757,886 W472L probably damaging Het
Tmem231 A G 8: 111,914,032 V283A probably benign Het
Traf4 A T 11: 78,160,235 I365N possibly damaging Het
Usf3 G A 16: 44,219,096 S1313N probably benign Het
Vangl1 G A 3: 102,163,295 probably benign Het
Wdr70 T C 15: 8,082,496 S88G probably benign Het
Other mutations in Igkv4-54
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5107:Igkv4-54 UTSW 6 69631930 missense possibly damaging 0.65
R5669:Igkv4-54 UTSW 6 69631848 missense possibly damaging 0.91
R7247:Igkv4-54 UTSW 6 69631858 missense probably damaging 1.00
R7866:Igkv4-54 UTSW 6 69631756 missense probably benign 0.23
R7949:Igkv4-54 UTSW 6 69631756 missense probably benign 0.23
Posted On2015-12-18