Incidental Mutation 'IGL02493:Lrguk'
ID 295720
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
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL02493
Quality Score
Status
Chromosome 6
Chromosomal Location 34006379-34110969 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34106127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 717 (D717E)
Ref Sequence ENSEMBL: ENSMUSP00000065146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070189]
AlphaFold Q9D5S7
Predicted Effect probably benign
Transcript: ENSMUST00000070189
AA Change: D717E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: D717E

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T G 15: 59,888,312 (GRCm39) S43R probably benign Het
Afap1l1 G T 18: 61,870,594 (GRCm39) Q595K possibly damaging Het
Alpk2 T C 18: 65,483,402 (GRCm39) E202G probably benign Het
Ap3b1 T C 13: 94,540,528 (GRCm39) V150A probably damaging Het
Bcas3 T C 11: 85,386,708 (GRCm39) I381T probably damaging Het
Best3 A T 10: 116,860,506 (GRCm39) R589W possibly damaging Het
Birc6 A G 17: 74,959,054 (GRCm39) probably benign Het
Clcn4 A C 7: 7,287,243 (GRCm39) D728E probably damaging Het
Commd2 C A 3: 57,559,080 (GRCm39) probably benign Het
Csrp1 T A 1: 135,678,801 (GRCm39) F175L probably damaging Het
Eif3c A T 7: 126,158,073 (GRCm39) N294K probably damaging Het
Fam184a A G 10: 53,570,789 (GRCm39) probably null Het
Fndc1 G T 17: 7,994,377 (GRCm39) P297Q unknown Het
Galnt13 A G 2: 54,770,149 (GRCm39) I314V probably benign Het
Gimap6 T A 6: 48,679,603 (GRCm39) K144N probably damaging Het
Gm10188 A T 1: 132,157,143 (GRCm39) C74* probably null Het
Gpatch2 C T 1: 186,965,325 (GRCm39) probably benign Het
Hace1 T A 10: 45,464,515 (GRCm39) M39K probably damaging Het
Has2 G T 15: 56,531,320 (GRCm39) T465K probably damaging Het
Homer3 T A 8: 70,742,721 (GRCm39) V144D probably benign Het
Ift140 A T 17: 25,306,898 (GRCm39) K878* probably null Het
Ikbip A G 10: 90,932,456 (GRCm39) N367D probably damaging Het
Immt T C 6: 71,821,700 (GRCm39) probably benign Het
Isca1 A G 13: 59,910,596 (GRCm39) V32A possibly damaging Het
Kcnu1 T A 8: 26,427,548 (GRCm39) N288K possibly damaging Het
Kmt2b C T 7: 30,268,936 (GRCm39) probably benign Het
Lrp1 C T 10: 127,417,647 (GRCm39) G1037E probably damaging Het
Man2a2 T A 7: 80,019,363 (GRCm39) Q37L possibly damaging Het
Msh4 C T 3: 153,583,545 (GRCm39) probably null Het
Mtf1 C T 4: 124,715,112 (GRCm39) R246W probably damaging Het
Mvb12b A G 2: 33,730,221 (GRCm39) S57P probably benign Het
Nat8f5 A G 6: 85,794,544 (GRCm39) F139L probably benign Het
Npepps A G 11: 97,128,985 (GRCm39) F400L probably damaging Het
Ntsr2 T A 12: 16,708,390 (GRCm39) S248T possibly damaging Het
Oplah G A 15: 76,185,155 (GRCm39) R853* probably null Het
Or5b98 T C 19: 12,931,138 (GRCm39) F62L probably benign Het
Or5p57 A T 7: 107,665,012 (GRCm39) M331K possibly damaging Het
Plekhh2 G A 17: 84,914,391 (GRCm39) probably null Het
Pskh1 G A 8: 106,656,388 (GRCm39) V355I probably benign Het
Rab31 A T 17: 66,024,547 (GRCm39) M44K possibly damaging Het
Slc5a4b A G 10: 75,910,849 (GRCm39) V329A probably damaging Het
Slc5a7 A G 17: 54,600,908 (GRCm39) Y76H probably damaging Het
Trappc14 T C 5: 138,261,432 (GRCm39) probably null Het
Treh A T 9: 44,594,246 (GRCm39) D164V possibly damaging Het
Trim6 A G 7: 103,881,847 (GRCm39) Y366C probably benign Het
Ubr7 T C 12: 102,734,479 (GRCm39) V251A probably benign Het
Vmn1r35 T A 6: 66,656,463 (GRCm39) N69I possibly damaging Het
Zan A G 5: 137,433,968 (GRCm39) L2255P unknown Het
Other mutations in Lrguk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Lrguk APN 6 34,020,364 (GRCm39) missense probably damaging 1.00
IGL00566:Lrguk APN 6 34,033,109 (GRCm39) missense probably damaging 1.00
IGL01720:Lrguk APN 6 34,020,412 (GRCm39) missense probably damaging 1.00
IGL02325:Lrguk APN 6 34,106,114 (GRCm39) missense probably benign 0.31
IGL02484:Lrguk APN 6 34,069,726 (GRCm39) missense probably damaging 1.00
IGL02636:Lrguk APN 6 34,067,123 (GRCm39) missense probably damaging 1.00
IGL03278:Lrguk APN 6 34,093,381 (GRCm39) missense possibly damaging 0.80
R0031:Lrguk UTSW 6 34,020,431 (GRCm39) missense probably damaging 0.99
R1069:Lrguk UTSW 6 34,025,818 (GRCm39) missense possibly damaging 0.63
R1487:Lrguk UTSW 6 34,039,295 (GRCm39) missense probably benign 0.01
R1568:Lrguk UTSW 6 34,063,373 (GRCm39) missense probably damaging 1.00
R1604:Lrguk UTSW 6 34,049,305 (GRCm39) missense possibly damaging 0.67
R1847:Lrguk UTSW 6 34,110,322 (GRCm39) missense possibly damaging 0.52
R2045:Lrguk UTSW 6 34,048,003 (GRCm39) missense probably damaging 1.00
R2107:Lrguk UTSW 6 34,039,296 (GRCm39) missense probably benign 0.15
R2125:Lrguk UTSW 6 34,069,837 (GRCm39) missense probably benign 0.05
R2136:Lrguk UTSW 6 34,020,454 (GRCm39) missense probably benign 0.00
R2997:Lrguk UTSW 6 34,050,697 (GRCm39) missense probably damaging 0.98
R3847:Lrguk UTSW 6 34,050,703 (GRCm39) missense probably damaging 1.00
R3849:Lrguk UTSW 6 34,050,703 (GRCm39) missense probably damaging 1.00
R4626:Lrguk UTSW 6 34,106,158 (GRCm39) missense probably benign 0.00
R4718:Lrguk UTSW 6 34,006,431 (GRCm39) missense probably benign 0.02
R4778:Lrguk UTSW 6 34,033,015 (GRCm39) missense probably damaging 1.00
R4841:Lrguk UTSW 6 34,069,802 (GRCm39) missense probably damaging 0.98
R5324:Lrguk UTSW 6 34,050,732 (GRCm39) missense possibly damaging 0.87
R5450:Lrguk UTSW 6 34,047,996 (GRCm39) missense probably damaging 1.00
R5741:Lrguk UTSW 6 34,025,802 (GRCm39) missense probably damaging 0.99
R5939:Lrguk UTSW 6 34,055,688 (GRCm39) missense probably damaging 1.00
R5997:Lrguk UTSW 6 34,106,078 (GRCm39) missense probably damaging 0.99
R6786:Lrguk UTSW 6 34,072,522 (GRCm39) missense probably benign 0.11
R6802:Lrguk UTSW 6 34,039,392 (GRCm39) missense probably damaging 1.00
R7081:Lrguk UTSW 6 34,079,074 (GRCm39) missense probably benign 0.01
R7303:Lrguk UTSW 6 34,006,411 (GRCm39) missense probably benign 0.00
R7316:Lrguk UTSW 6 34,080,191 (GRCm39) missense unknown
R7473:Lrguk UTSW 6 34,006,630 (GRCm39) missense probably benign 0.01
R7543:Lrguk UTSW 6 34,025,870 (GRCm39) nonsense probably null
R7613:Lrguk UTSW 6 34,078,683 (GRCm39) missense possibly damaging 0.68
R7716:Lrguk UTSW 6 34,072,474 (GRCm39) missense probably damaging 1.00
R7900:Lrguk UTSW 6 34,106,129 (GRCm39) missense probably benign 0.01
R8012:Lrguk UTSW 6 34,033,038 (GRCm39) missense probably benign 0.00
R8251:Lrguk UTSW 6 34,093,374 (GRCm39) missense probably benign 0.00
R8324:Lrguk UTSW 6 34,079,506 (GRCm39) missense probably benign 0.03
R8551:Lrguk UTSW 6 34,093,446 (GRCm39) missense probably damaging 0.96
R8828:Lrguk UTSW 6 34,080,572 (GRCm39) missense unknown
R8879:Lrguk UTSW 6 34,006,618 (GRCm39) missense probably benign 0.00
X0057:Lrguk UTSW 6 34,055,682 (GRCm39) missense probably benign 0.40
Posted On 2015-04-16