Incidental Mutation 'IGL02147:Igkv4-92'
ID281803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv4-92
Ensembl Gene ENSMUSG00000076531
Gene Nameimmunoglobulin kappa variable 4-92
SynonymsIgVk ay4, LOC384410
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL02147
Quality Score
Status
Chromosome6
Chromosomal Location68755038-68755593 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 68755252 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 46 (S46N)
Ref Sequence ENSEMBL: ENSMUSP00000100133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103332]
Predicted Effect probably damaging
Transcript: ENSMUST00000103332
AA Change: S46N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100133
Gene: ENSMUSG00000076531
AA Change: S46N

DomainStartEndE-ValueType
IGv 38 111 5.88e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T C 19: 24,064,963 noncoding transcript Het
Acadsb T A 7: 131,425,881 probably benign Het
Ambra1 A G 2: 91,767,719 H75R probably benign Het
Arhgef28 T A 13: 97,961,314 I931F probably damaging Het
Cdk5 T C 5: 24,420,320 N165D probably benign Het
Col4a2 A T 8: 11,408,140 Y272F probably benign Het
Csde1 T A 3: 103,039,934 D67E probably damaging Het
Dhx34 T C 7: 16,204,003 H724R probably benign Het
Dhx57 T C 17: 80,260,323 D777G possibly damaging Het
Fat3 A C 9: 15,995,985 V2907G probably damaging Het
Fst T C 13: 114,454,360 Y290C probably damaging Het
Gm5065 T A 7: 5,359,733 I121N probably damaging Het
Ighg2b A T 12: 113,306,391 *336R probably null Het
Kdm2b C T 5: 122,947,835 E238K probably damaging Het
Lmtk2 A G 5: 144,156,936 M244V possibly damaging Het
Mcoln1 T C 8: 3,508,379 F211S probably benign Het
Mib2 C A 4: 155,657,687 R209L probably benign Het
Msx3 C A 7: 140,048,885 V39L possibly damaging Het
Mtnr1b A G 9: 15,863,376 F129S probably damaging Het
Nr3c2 A G 8: 76,909,067 S266G probably damaging Het
Nup160 G T 2: 90,703,941 L703F probably benign Het
Olfr1093 A G 2: 86,786,150 N140S probably benign Het
Olfr95 T A 17: 37,210,986 Y289F probably damaging Het
Pcyt1a T A 16: 32,462,098 N105K probably damaging Het
Pdhx A G 2: 103,030,341 probably benign Het
Qpct T C 17: 79,070,716 V105A probably damaging Het
Ros1 A C 10: 52,120,895 F1227C probably damaging Het
Rrp12 A T 19: 41,886,181 V342E probably damaging Het
Sart3 A G 5: 113,762,943 probably benign Het
Slc6a18 T A 13: 73,668,162 K366M probably damaging Het
Smarca4 A G 9: 21,635,703 N175D probably damaging Het
Sox14 T C 9: 99,875,545 K47R probably damaging Het
Trcg1 A T 9: 57,245,849 I592F probably benign Het
Ush2a T C 1: 188,864,703 M3880T probably benign Het
Usp20 T C 2: 31,006,401 F172S probably damaging Het
Vmn2r4 C T 3: 64,398,361 probably benign Het
Other mutations in Igkv4-92
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02171:Igkv4-92 APN 6 68755589 missense probably benign 0.01
R4981:Igkv4-92 UTSW 6 68755044 missense possibly damaging 0.80
R5135:Igkv4-92 UTSW 6 68755554 missense probably benign
R5418:Igkv4-92 UTSW 6 68755580 missense possibly damaging 0.49
Posted On2015-04-16