Incidental Mutation 'IGL01021:Igkv4-68'
ID53632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv4-68
Ensembl Gene ENSMUSG00000076549
Gene Nameimmunoglobulin kappa variable 4-68
SynonymsLOC384515, LOC232058
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01021
Quality Score
Status
Chromosome6
Chromosomal Location69304834-69305363 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69304881 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 102 (E102G)
Ref Sequence ENSEMBL: ENSMUSP00000100151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103350]
Predicted Effect probably damaging
Transcript: ENSMUST00000103350
AA Change: E102G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100151
Gene: ENSMUSG00000076549
AA Change: E102G

DomainStartEndE-ValueType
IGv 40 111 4.09e-18 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik T C 7: 125,318,676 V80A unknown Het
Adam28 A G 14: 68,642,114 S162P probably benign Het
Adamts14 G T 10: 61,225,373 S426Y probably damaging Het
Ankrd24 A G 10: 81,635,161 probably null Het
B3galt5 C A 16: 96,315,723 H185Q probably benign Het
Bod1l A G 5: 41,838,173 probably benign Het
Ddx46 T A 13: 55,666,332 Y700* probably null Het
Dph7 T G 2: 24,971,923 probably null Het
Fcho1 A T 8: 71,713,523 Y354* probably null Het
Fnbp4 A G 2: 90,777,669 M912V probably benign Het
Fpgt T A 3: 155,091,492 E42V possibly damaging Het
Frmd3 A G 4: 74,074,120 I75V possibly damaging Het
Gm10264 G A 12: 88,329,272 G7R unknown Het
Gm3278 G T 14: 4,895,222 V159L possibly damaging Het
Gmds T C 13: 32,127,030 I205V possibly damaging Het
Gprin1 T A 13: 54,740,369 S31C probably damaging Het
Itga1 T A 13: 114,997,000 Y458F probably benign Het
Kif20b T C 19: 34,938,260 V479A possibly damaging Het
Megf8 T A 7: 25,338,374 W772R probably benign Het
Muc6 T A 7: 141,637,162 I2533F possibly damaging Het
Npas3 T C 12: 54,003,560 S258P probably damaging Het
Padi3 T C 4: 140,796,334 probably benign Het
Pmfbp1 G T 8: 109,537,993 R897L possibly damaging Het
Rims1 A T 1: 22,486,620 W407R probably damaging Het
Scnn1b G T 7: 121,918,036 D632Y probably damaging Het
Tas2r123 G A 6: 132,847,406 A89T probably benign Het
Tbk1 T C 10: 121,551,272 E706G probably benign Het
Thra A G 11: 98,762,928 D195G possibly damaging Het
Tpp2 T A 1: 43,934,187 Y33* probably null Het
Usp6nl T A 2: 6,424,387 M220K probably damaging Het
Vmn2r112 C T 17: 22,618,904 T782I probably damaging Het
Zbtb43 T C 2: 33,453,759 T485A probably benign Het
Zfat T C 15: 68,170,166 I840V possibly damaging Het
Other mutations in Igkv4-68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01443:Igkv4-68 APN 6 69304937 missense probably damaging 1.00
PIT4494001:Igkv4-68 UTSW 6 69305107 missense probably damaging 0.97
R5202:Igkv4-68 UTSW 6 69304942 missense probably damaging 1.00
R7632:Igkv4-68 UTSW 6 69305064 missense possibly damaging 0.90
R7795:Igkv4-68 UTSW 6 69304912 missense probably damaging 1.00
R8072:Igkv4-68 UTSW 6 69305129 missense probably benign 0.00
R8157:Igkv4-68 UTSW 6 69305322 missense probably benign 0.10
Posted On2013-06-28