Incidental Mutation 'IGL02636:Lrguk'
ID301528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrguk
Ensembl Gene ENSMUSG00000056215
Gene Nameleucine-rich repeats and guanylate kinase domain containing
Synonyms4921528H16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL02636
Quality Score
Status
Chromosome6
Chromosomal Location34029448-34134034 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 34090188 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 483 (T483K)
Ref Sequence ENSEMBL: ENSMUSP00000153993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070189] [ENSMUST00000228187]
Predicted Effect probably damaging
Transcript: ENSMUST00000070189
AA Change: T483K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: T483K

DomainStartEndE-ValueType
coiled coil region 75 113 N/A INTRINSIC
LRR 148 170 2.69e2 SMART
LRR 236 258 1.86e2 SMART
LRR 279 301 1.99e0 SMART
LRR 326 349 1.58e2 SMART
GuKc 414 600 6.84e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000228187
AA Change: T483K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 C A 6: 85,628,654 Q1960K probably benign Het
Arhgef40 T A 14: 51,997,408 V1056E probably damaging Het
Cdh26 T A 2: 178,449,962 F105I probably damaging Het
Cep162 A T 9: 87,248,379 D59E possibly damaging Het
Cngb3 A T 4: 19,396,690 T348S probably damaging Het
Eci3 A T 13: 34,946,980 probably null Het
Gapvd1 A G 2: 34,725,404 I409T probably benign Het
Golga2 T C 2: 32,296,723 probably null Het
Hoxd3 G A 2: 74,746,954 A393T probably benign Het
Htr5a T C 5: 27,842,660 F71S probably damaging Het
Hyou1 T C 9: 44,381,410 probably null Het
Igsf6 C A 7: 121,067,280 probably benign Het
Klrb1c C A 6: 128,788,552 C25F probably benign Het
Lrpprc A T 17: 84,753,104 probably benign Het
Lrrk1 A T 7: 66,308,659 probably null Het
Megf8 G A 7: 25,358,432 G2098D probably damaging Het
Nfkbia T C 12: 55,491,173 Q165R possibly damaging Het
Nipsnap2 A G 5: 129,745,290 probably benign Het
Phykpl C T 11: 51,598,713 T382I probably damaging Het
Prdm10 A G 9: 31,329,681 D206G possibly damaging Het
Rab26 T C 17: 24,533,559 S9G probably benign Het
Sema3e C A 5: 14,225,656 N258K probably benign Het
Slfn10-ps T A 11: 83,030,145 noncoding transcript Het
Tgm5 A T 2: 121,076,796 C149S probably damaging Het
Timp4 C T 6: 115,249,824 probably null Het
Traf7 T C 17: 24,512,990 K251E probably benign Het
Ugcg G T 4: 59,207,763 R34L possibly damaging Het
Unc13d T C 11: 116,073,618 H300R probably damaging Het
Vmn1r20 G T 6: 57,431,761 C24F probably benign Het
Vmn2r13 T C 5: 109,192,017 R31G probably damaging Het
Vsig10l A G 7: 43,463,578 T87A possibly damaging Het
Zfp353-ps T A 8: 42,082,440 noncoding transcript Het
Other mutations in Lrguk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Lrguk APN 6 34043429 missense probably damaging 1.00
IGL00566:Lrguk APN 6 34056174 missense probably damaging 1.00
IGL01720:Lrguk APN 6 34043477 missense probably damaging 1.00
IGL02325:Lrguk APN 6 34129179 missense probably benign 0.31
IGL02484:Lrguk APN 6 34092791 missense probably damaging 1.00
IGL02493:Lrguk APN 6 34129192 missense probably benign 0.03
IGL03278:Lrguk APN 6 34116446 missense possibly damaging 0.80
R0031:Lrguk UTSW 6 34043496 missense probably damaging 0.99
R1069:Lrguk UTSW 6 34048883 missense possibly damaging 0.63
R1487:Lrguk UTSW 6 34062360 missense probably benign 0.01
R1568:Lrguk UTSW 6 34086438 missense probably damaging 1.00
R1604:Lrguk UTSW 6 34072370 missense possibly damaging 0.67
R1847:Lrguk UTSW 6 34133387 missense possibly damaging 0.52
R2045:Lrguk UTSW 6 34071068 missense probably damaging 1.00
R2107:Lrguk UTSW 6 34062361 missense probably benign 0.15
R2125:Lrguk UTSW 6 34092902 missense probably benign 0.05
R2136:Lrguk UTSW 6 34043519 missense probably benign 0.00
R2997:Lrguk UTSW 6 34073762 missense probably damaging 0.98
R3847:Lrguk UTSW 6 34073768 missense probably damaging 1.00
R3849:Lrguk UTSW 6 34073768 missense probably damaging 1.00
R4626:Lrguk UTSW 6 34129223 missense probably benign 0.00
R4718:Lrguk UTSW 6 34029496 missense probably benign 0.02
R4778:Lrguk UTSW 6 34056080 missense probably damaging 1.00
R4841:Lrguk UTSW 6 34092867 missense probably damaging 0.98
R5324:Lrguk UTSW 6 34073797 missense possibly damaging 0.87
R5450:Lrguk UTSW 6 34071061 missense probably damaging 1.00
R5741:Lrguk UTSW 6 34048867 missense probably damaging 0.99
R5939:Lrguk UTSW 6 34078753 missense probably damaging 1.00
R5997:Lrguk UTSW 6 34129143 missense probably damaging 0.99
R6786:Lrguk UTSW 6 34095587 missense probably benign 0.11
R6802:Lrguk UTSW 6 34062457 missense probably damaging 1.00
R7081:Lrguk UTSW 6 34102139 missense probably benign 0.01
R7303:Lrguk UTSW 6 34029476 missense probably benign 0.00
R7316:Lrguk UTSW 6 34103256 missense unknown
R7473:Lrguk UTSW 6 34029695 missense probably benign 0.01
R7543:Lrguk UTSW 6 34048935 nonsense probably null
R7613:Lrguk UTSW 6 34101748 missense possibly damaging 0.68
R7716:Lrguk UTSW 6 34095539 missense probably damaging 1.00
R7900:Lrguk UTSW 6 34129194 missense probably benign 0.01
R7983:Lrguk UTSW 6 34129194 missense probably benign 0.01
R8012:Lrguk UTSW 6 34056103 missense probably benign 0.00
X0057:Lrguk UTSW 6 34078747 missense probably benign 0.40
Posted On2015-04-16