Incidental Mutation 'IGL02484:Lrguk'
ID 295354
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrguk
Ensembl Gene ENSMUSG00000056215
Gene Name leucine-rich repeats and guanylate kinase domain containing
Synonyms 4921528H16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL02484
Quality Score
Status
Chromosome 6
Chromosomal Location 34029448-34134034 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34092791 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 534 (P534S)
Ref Sequence ENSEMBL: ENSMUSP00000153993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070189] [ENSMUST00000228187]
AlphaFold Q9D5S7
Predicted Effect probably damaging
Transcript: ENSMUST00000070189
AA Change: P534S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: P534S

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: P534S

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A C 7: 29,563,352 noncoding transcript Het
Araf A G X: 20,853,909 probably benign Het
Arrb2 T A 11: 70,439,474 V308E probably damaging Het
Asap3 A G 4: 136,229,457 probably benign Het
Astn2 G A 4: 65,992,279 probably benign Het
Cactin T A 10: 81,322,974 I258N probably benign Het
Catsperg1 T C 7: 29,210,920 probably benign Het
Ccna1 C T 3: 55,048,494 D146N probably benign Het
Chrna3 T C 9: 55,015,537 Y329C probably damaging Het
Ctps2 G A X: 162,910,009 G56D probably damaging Het
Cyp4b1 T C 4: 115,647,557 D44G probably benign Het
D3Ertd751e A G 3: 41,753,720 probably null Het
Daxx T C 17: 33,912,242 V381A probably damaging Het
Dhx37 T A 5: 125,419,337 I714F possibly damaging Het
Dnah7b T C 1: 46,195,318 V1470A probably damaging Het
Efl1 T C 7: 82,683,039 I297T probably damaging Het
Fam26f T C 10: 34,126,404 T228A probably benign Het
Fnd3c2 A T X: 106,245,486 H442Q probably damaging Het
Glp2r A C 11: 67,740,166 V126G possibly damaging Het
Gm5699 G T 1: 30,998,762 noncoding transcript Het
Gpt2 A G 8: 85,516,233 D298G probably damaging Het
Gse1 G T 8: 120,575,262 probably benign Het
Hand1 T C 11: 57,831,594 T65A probably benign Het
Ints8 G A 4: 11,208,834 Q955* probably null Het
Lrp6 A G 6: 134,541,923 F60L probably benign Het
Mamld1 T C X: 71,118,652 I423T possibly damaging Het
Mrpl22 G A 11: 58,173,062 S36N possibly damaging Het
Mug2 A G 6: 122,072,753 E915G probably damaging Het
Olfr1442 T C 19: 12,674,859 F218S possibly damaging Het
Olfr493 C T 7: 108,346,606 R125Q probably damaging Het
Oosp2 T C 19: 11,651,483 T85A probably benign Het
Pde4c T A 8: 70,748,052 probably benign Het
Pdxdc1 T C 16: 13,876,081 E159G possibly damaging Het
Poln T C 5: 34,129,377 E149G probably damaging Het
Pou5f2 T G 13: 78,025,905 L322R probably damaging Het
Ppm1k A T 6: 57,525,012 S55R possibly damaging Het
Ptges2 T A 2: 32,397,707 I149N probably damaging Het
Pus7l A G 15: 94,529,488 V471A possibly damaging Het
Raet1e A T 10: 22,180,767 M81L probably benign Het
Sipa1l3 A G 7: 29,399,531 S438P probably damaging Het
Skint5 T A 4: 113,942,553 K126* probably null Het
Stfa2 T C 16: 36,405,207 T37A probably damaging Het
Ttll12 A G 15: 83,581,696 I433T possibly damaging Het
Vmn2r32 C T 7: 7,464,117 G804D probably damaging Het
Zc3h14 A G 12: 98,774,301 T84A probably benign 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
IGL02493:Lrguk APN 6 34129192 missense probably benign 0.03
IGL02636:Lrguk APN 6 34090188 missense probably damaging 1.00
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
R8012:Lrguk UTSW 6 34056103 missense probably benign 0.00
R8251:Lrguk UTSW 6 34116439 missense probably benign 0.00
R8324:Lrguk UTSW 6 34102571 missense probably benign 0.03
R8551:Lrguk UTSW 6 34116511 missense probably damaging 0.96
R8828:Lrguk UTSW 6 34103637 missense unknown
R8879:Lrguk UTSW 6 34029683 missense probably benign 0.00
X0057:Lrguk UTSW 6 34078747 missense probably benign 0.40
Posted On 2015-04-16