Incidental Mutation 'IGL01720:Lrguk'
ID 105049
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: 0.101) question?
Stock # IGL01720
Quality Score
Status
Chromosome 6
Chromosomal Location 34029448-34134034 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34043477 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 52 (F52S)
Ref Sequence ENSEMBL: ENSMUSP00000117680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070189] [ENSMUST00000101564] [ENSMUST00000141078] [ENSMUST00000228187]
AlphaFold Q9D5S7
Predicted Effect possibly damaging
Transcript: ENSMUST00000070189
AA Change: F187S

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: F187S

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: ENSMUST00000101564
AA Change: F187S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099100
Gene: ENSMUSG00000056215
AA Change: F187S

DomainStartEndE-ValueType
coiled coil region 75 113 N/A INTRINSIC
Pfam:LRR_1 150 170 9e-4 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000141078
AA Change: F52S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117680
Gene: ENSMUSG00000056215
AA Change: F52S

DomainStartEndE-ValueType
Pfam:LRR_4 14 61 3.4e-8 PFAM
Pfam:LRR_1 15 35 6.1e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228187
AA Change: F187S

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
Apc2 T C 10: 80,314,499 S1796P probably benign Het
Asxl3 A T 18: 22,525,325 I2131F probably damaging Het
Cdc42bpa T A 1: 180,111,282 D833E probably damaging Het
Cenpc1 A G 5: 86,045,425 S202P possibly damaging Het
Cenpf T C 1: 189,682,386 E178G probably benign Het
Cenpf T C 1: 189,651,215 Y2636C probably damaging Het
Chkb C T 15: 89,427,952 probably null Het
Cldn20 A G 17: 3,533,100 T183A probably benign Het
Cpne8 C T 15: 90,501,500 V442I probably benign Het
Cx3cl1 T A 8: 94,778,073 M39K probably damaging Het
Dgkd T A 1: 87,936,765 L124Q probably damaging Het
Fam180a T C 6: 35,313,565 H161R probably benign Het
Galt C A 4: 41,757,463 R212S probably damaging Het
Gja10 T C 4: 32,601,007 D459G probably benign Het
Glb1 T C 9: 114,420,505 probably null Het
Gm13089 T A 4: 143,696,840 probably benign Het
Gm4981 A C 10: 58,236,389 M1R probably null Het
Gm5709 A T 3: 59,606,554 noncoding transcript Het
Igf2r A G 17: 12,701,313 Y1380H probably damaging Het
Jag1 C T 2: 137,087,103 G811D probably damaging Het
Lrrc15 A T 16: 30,273,320 N400K probably benign Het
Map3k12 A G 15: 102,502,186 probably benign Het
Mbnl2 C T 14: 120,325,270 T11I probably damaging Het
Mettl22 T C 16: 8,484,253 probably benign Het
Mgat4a G A 1: 37,444,898 A497V probably damaging Het
Mrpl49 C A 19: 6,055,157 M91I possibly damaging Het
Olfr450 G A 6: 42,817,593 V41I probably benign Het
Olfr700 A T 7: 106,806,209 D84E probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Ppp1r13b T C 12: 111,858,260 T102A probably benign Het
Prodh2 A G 7: 30,511,203 D393G probably damaging Het
Pyroxd1 A G 6: 142,351,058 probably benign Het
Rad17 A T 13: 100,622,858 C554S possibly damaging Het
Rapgef5 T C 12: 117,613,435 probably benign Het
Setdb2 A G 14: 59,423,436 V86A possibly damaging Het
Slc38a2 A T 15: 96,691,211 probably benign Het
Slc9c1 A G 16: 45,555,769 Y406C probably damaging Het
Slit1 T C 19: 41,634,214 D702G probably benign Het
Stat3 T C 11: 100,903,658 H275R possibly damaging Het
Susd5 T A 9: 114,063,984 N43K possibly damaging Het
Ttc3 A T 16: 94,385,369 K124N probably damaging Het
Usp36 C A 11: 118,275,002 R165L probably damaging Het
Vwf G A 6: 125,642,835 R1492Q possibly damaging Het
Wdr66 A G 5: 123,322,494 D1173G probably benign Het
Zbed6 A G 1: 133,657,526 V691A possibly damaging 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
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
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 2014-01-21