Incidental Mutation 'IGL02896:Lrrd1'
ID363419
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrd1
Ensembl Gene ENSMUSG00000040367
Gene Nameleucine rich repeats and death domain containing 1
Synonyms4932412H11Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.474) question?
Stock #IGL02896
Quality Score
Status
Chromosome5
Chromosomal Location3845173-3866596 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 3851473 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 593 (S593T)
Ref Sequence ENSEMBL: ENSMUSP00000038675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044039] [ENSMUST00000143027]
Predicted Effect probably benign
Transcript: ENSMUST00000044039
AA Change: S593T

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: S593T

DomainStartEndE-ValueType
low complexity region 89 101 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
LRR 181 203 3.18e1 SMART
LRR 204 226 7.8e1 SMART
LRR 227 249 5.26e0 SMART
LRR 250 272 3.98e1 SMART
LRR 273 294 2.33e1 SMART
LRR 296 318 2.14e1 SMART
LRR_TYP 319 342 1.45e-2 SMART
LRR 365 388 4.44e0 SMART
LRR 389 410 2.76e1 SMART
LRR 411 433 8.73e1 SMART
LRR 434 457 3.55e1 SMART
LRR 480 503 1.45e1 SMART
LRR 526 548 1.31e0 SMART
LRR 549 571 3.65e1 SMART
LRR 572 594 6.22e0 SMART
LRR 595 618 2.68e1 SMART
LRR 644 665 1.15e1 SMART
LRR 667 689 8.01e0 SMART
LRR 690 713 1.53e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143027
SMART Domains Protein: ENSMUSP00000122668
Gene: ENSMUSG00000040367

DomainStartEndE-ValueType
low complexity region 89 101 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik A G 8: 87,589,020 D246G probably damaging Het
Adcy2 A G 13: 68,727,872 S504P probably damaging Het
Adgrv1 A T 13: 81,520,739 I2566K probably damaging Het
Als2 A G 1: 59,183,787 V1108A probably benign Het
Atad2b T A 12: 4,958,151 F466I probably damaging Het
Cyp2a22 T C 7: 26,936,461 M226V probably damaging Het
D5Ertd579e T C 5: 36,613,982 D1023G possibly damaging Het
D630003M21Rik T C 2: 158,217,285 I232V probably benign Het
Dolpp1 T C 2: 30,396,230 S114P probably damaging Het
Fars2 T A 13: 36,204,842 S105T probably benign Het
Fndc7 T C 3: 108,862,931 I560V probably benign Het
Gcn1l1 T C 5: 115,619,648 probably benign Het
Gm5134 T C 10: 75,974,224 L113P possibly damaging Het
Hipk2 G T 6: 38,698,447 H1066Q probably damaging Het
Katnb1 A G 8: 95,096,028 probably benign Het
Mastl T C 2: 23,131,767 R713G probably damaging Het
Mrgpra6 T A 7: 47,188,907 D181V probably benign Het
Mroh7 C T 4: 106,699,816 V828I possibly damaging Het
Nbeal2 A G 9: 110,639,292 probably null Het
Nckap5l G T 15: 99,427,210 Q471K possibly damaging Het
Olfr262 A T 19: 12,240,989 L224* probably null Het
Olfr344 A T 2: 36,569,205 L202F possibly damaging Het
Olfr536 T C 7: 140,504,055 probably null Het
Papd4 A T 13: 93,168,437 N280K probably damaging Het
Pfn4 A G 12: 4,775,451 N96S probably benign Het
Ppp1r3c G A 19: 36,733,465 P302S probably benign Het
Senp2 T G 16: 22,018,368 Y122* probably null Het
Slc5a7 C A 17: 54,293,017 G123* probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Th C T 7: 142,895,431 R289Q probably damaging Het
Tigit C T 16: 43,662,198 V58I probably benign Het
Tldc1 T C 8: 119,762,425 D373G probably damaging Het
Ush1c C A 7: 46,198,415 V810L probably benign Het
Vmn2r120 C A 17: 57,509,008 K782N probably damaging Het
Other mutations in Lrrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Lrrd1 APN 5 3850573 missense possibly damaging 0.94
IGL00329:Lrrd1 APN 5 3850081 missense possibly damaging 0.94
IGL00674:Lrrd1 APN 5 3849773 missense possibly damaging 0.92
IGL00691:Lrrd1 APN 5 3863929 missense probably damaging 0.98
IGL00839:Lrrd1 APN 5 3850017 missense probably benign 0.00
IGL00911:Lrrd1 APN 5 3865689 missense probably benign 0.07
IGL01754:Lrrd1 APN 5 3851432 missense probably damaging 1.00
IGL01981:Lrrd1 APN 5 3851267 missense probably damaging 1.00
IGL02003:Lrrd1 APN 5 3849857 missense probably damaging 0.99
IGL02223:Lrrd1 APN 5 3850211 missense probably benign
IGL02477:Lrrd1 APN 5 3865770 missense probably benign
IGL02609:Lrrd1 APN 5 3858803 missense probably benign 0.26
IGL02833:Lrrd1 APN 5 3850709 missense probably damaging 0.98
IGL02886:Lrrd1 APN 5 3851534 missense probably benign 0.00
R0045:Lrrd1 UTSW 5 3866418 missense possibly damaging 0.50
R0138:Lrrd1 UTSW 5 3851345 missense probably benign 0.04
R0305:Lrrd1 UTSW 5 3865707 missense probably damaging 1.00
R0346:Lrrd1 UTSW 5 3850215 missense probably benign 0.03
R0455:Lrrd1 UTSW 5 3866425 missense probably benign 0.21
R1717:Lrrd1 UTSW 5 3850580 missense probably damaging 0.99
R1719:Lrrd1 UTSW 5 3850483 unclassified probably null
R1836:Lrrd1 UTSW 5 3865709 missense probably benign 0.36
R1951:Lrrd1 UTSW 5 3851488 missense probably damaging 1.00
R2199:Lrrd1 UTSW 5 3866478 missense possibly damaging 0.86
R3751:Lrrd1 UTSW 5 3850282 missense probably benign 0.37
R3752:Lrrd1 UTSW 5 3850282 missense probably benign 0.37
R3837:Lrrd1 UTSW 5 3850204 missense possibly damaging 0.73
R3862:Lrrd1 UTSW 5 3851248 missense probably benign 0.00
R3863:Lrrd1 UTSW 5 3851248 missense probably benign 0.00
R3864:Lrrd1 UTSW 5 3851248 missense probably benign 0.00
R4816:Lrrd1 UTSW 5 3851126 nonsense probably null
R5225:Lrrd1 UTSW 5 3858735 missense probably benign 0.00
R5721:Lrrd1 UTSW 5 3850619 missense probably benign 0.13
R5791:Lrrd1 UTSW 5 3851254 missense probably benign 0.11
R6077:Lrrd1 UTSW 5 3850837 missense probably benign 0.01
R6229:Lrrd1 UTSW 5 3863887 missense probably damaging 1.00
R6330:Lrrd1 UTSW 5 3850629 missense probably damaging 1.00
R6588:Lrrd1 UTSW 5 3851386 missense probably benign 0.19
R6734:Lrrd1 UTSW 5 3850226 missense possibly damaging 0.95
R6932:Lrrd1 UTSW 5 3851395 missense probably benign 0.06
R7180:Lrrd1 UTSW 5 3851459 missense probably damaging 1.00
R7771:Lrrd1 UTSW 5 3866476 missense possibly damaging 0.84
Z1176:Lrrd1 UTSW 5 3850025 missense probably benign 0.09
Posted On2015-12-18