Incidental Mutation 'IGL02148:Lrrc8d'
ID281851
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc8d
Ensembl Gene ENSMUSG00000046079
Gene Nameleucine rich repeat containing 8D
SynonymsLrrc5, 2810473G09Rik, 4930525N13Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02148
Quality Score
Status
Chromosome5
Chromosomal Location105699969-105832436 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105812387 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 221 (D221G)
Ref Sequence ENSEMBL: ENSMUSP00000113603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060531] [ENSMUST00000120847] [ENSMUST00000127686] [ENSMUST00000154807] [ENSMUST00000156630]
Predicted Effect possibly damaging
Transcript: ENSMUST00000060531
AA Change: D221G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: D221G

DomainStartEndE-ValueType
Pfam:DUF3733 1 65 5.6e-31 PFAM
Pfam:DUF3733 138 197 2e-24 PFAM
transmembrane domain 366 388 N/A INTRINSIC
internal_repeat_1 490 607 1.13e-8 PROSPERO
LRR 658 681 1.23e0 SMART
LRR 683 705 2.03e1 SMART
LRR_TYP 706 729 9.58e-3 SMART
LRR 730 751 2.47e2 SMART
LRR 752 775 1.76e-1 SMART
LRR 776 797 1.01e2 SMART
LRR 798 821 3.29e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120847
AA Change: D221G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: D221G

DomainStartEndE-ValueType
Pfam:Pannexin_like 1 385 2.2e-160 PFAM
internal_repeat_1 490 607 1.13e-8 PROSPERO
LRR 658 681 1.23e0 SMART
LRR 683 705 2.03e1 SMART
LRR_TYP 706 729 9.58e-3 SMART
LRR 730 751 2.47e2 SMART
LRR 752 775 1.76e-1 SMART
LRR 776 797 1.01e2 SMART
LRR 798 821 3.29e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149831
Predicted Effect probably benign
Transcript: ENSMUST00000154807
SMART Domains Protein: ENSMUSP00000114662
Gene: ENSMUSG00000046079

DomainStartEndE-ValueType
Pfam:DUF3733 1 65 1.8e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156630
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024P04Rik A T 13: 98,984,183 F112I probably damaging Het
Akna C T 4: 63,382,479 probably benign Het
AU040320 T C 4: 126,839,676 V663A possibly damaging Het
Cdh13 A G 8: 119,198,958 D355G probably damaging Het
Cdyl2 A G 8: 116,589,244 probably benign Het
Csnk1g3 C T 18: 53,953,288 R422C probably benign Het
D430042O09Rik A T 7: 125,873,476 probably null Het
Dclk1 T A 3: 55,500,099 V233D probably damaging Het
Ddx59 T C 1: 136,433,827 S477P probably damaging Het
Epb41l1 A T 2: 156,511,828 probably benign Het
Epha2 T C 4: 141,318,524 L453P probably damaging Het
Esco2 T C 14: 65,826,595 H380R probably benign Het
Fbxo38 T C 18: 62,536,227 M51V probably benign Het
Fgb T C 3: 83,043,287 M387V probably damaging Het
Fryl A G 5: 73,075,959 L1522S probably benign Het
Gdf9 T A 11: 53,436,742 M175K probably benign Het
Gm13023 T A 4: 143,792,734 Y22N probably benign Het
Gm20547 C T 17: 34,860,548 D243N probably benign Het
Gramd1b T A 9: 40,315,764 D299V probably damaging Het
Gsg1l G T 7: 125,923,499 Q186K possibly damaging Het
Kcnh5 A G 12: 74,897,652 L941P possibly damaging Het
Med19 T C 2: 84,685,259 F96L probably damaging Het
Mei1 C A 15: 82,092,711 S589* probably null Het
Myh15 G T 16: 49,116,315 D708Y probably damaging Het
Naca C T 10: 128,043,884 probably benign Het
Olfr1173 A T 2: 88,274,222 Y276N possibly damaging Het
Otog G A 7: 46,300,587 C306Y probably damaging Het
Phldb1 T C 9: 44,696,072 K1279E probably damaging Het
Pkd1 C T 17: 24,579,836 T369I probably damaging Het
Plekha8 A G 6: 54,615,286 S32G probably damaging Het
Sema4g A G 19: 44,996,469 T113A probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Sh3rf3 T C 10: 59,086,740 M546T probably benign Het
Slc27a5 A G 7: 12,994,951 V328A probably damaging Het
Spef1 T C 2: 131,172,768 N78S probably benign Het
Tln1 T C 4: 43,555,388 T179A probably damaging Het
Tmc5 T C 7: 118,645,324 I475T probably damaging Het
Top2b A G 14: 16,400,488 Y621C probably damaging Het
Ttf1 T C 2: 29,079,426 F727L probably benign Het
Tufm T C 7: 126,489,160 L75P probably damaging Het
Ugt1a2 T A 1: 88,201,074 D146E probably damaging Het
Usp15 G A 10: 123,127,837 T533I probably damaging Het
Vmn1r113 A G 7: 20,787,822 T180A probably benign Het
Vmn1r205 G T 13: 22,592,225 P236T probably damaging Het
Vmn2r112 T G 17: 22,619,032 C825G probably damaging Het
Zfp712 T A 13: 67,042,158 I102F probably damaging Het
Other mutations in Lrrc8d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00765:Lrrc8d APN 5 105811952 missense possibly damaging 0.60
IGL01327:Lrrc8d APN 5 105812265 missense probably damaging 1.00
IGL02228:Lrrc8d APN 5 105811864 missense probably benign 0.44
IGL02551:Lrrc8d APN 5 105813548 missense possibly damaging 0.78
IGL02605:Lrrc8d APN 5 105826817 intron noncoding transcript
R0415:Lrrc8d UTSW 5 105811865 missense probably damaging 1.00
R1424:Lrrc8d UTSW 5 105826916 missense unknown
R1754:Lrrc8d UTSW 5 105812657 missense probably benign
R3411:Lrrc8d UTSW 5 105826706 intron noncoding transcript
R3605:Lrrc8d UTSW 5 105827007 missense unknown
R3705:Lrrc8d UTSW 5 105813475 missense probably damaging 1.00
R3798:Lrrc8d UTSW 5 105812489 missense probably benign 0.12
R3951:Lrrc8d UTSW 5 105814276 missense probably benign 0.00
R4300:Lrrc8d UTSW 5 105813740 missense probably damaging 0.99
R4953:Lrrc8d UTSW 5 105813368 missense probably damaging 1.00
R5211:Lrrc8d UTSW 5 105813740 missense probably damaging 0.99
R5436:Lrrc8d UTSW 5 105812552 missense probably damaging 0.98
R5512:Lrrc8d UTSW 5 105812784 missense probably damaging 1.00
R5512:Lrrc8d UTSW 5 105812785 missense probably benign 0.00
R5514:Lrrc8d UTSW 5 105812784 missense probably damaging 1.00
R5514:Lrrc8d UTSW 5 105812785 missense probably benign 0.00
R5531:Lrrc8d UTSW 5 105797670 intron probably benign
R5929:Lrrc8d UTSW 5 105812606 missense probably damaging 0.98
R6063:Lrrc8d UTSW 5 105812126 missense probably benign 0.01
R6379:Lrrc8d UTSW 5 105812809 missense probably benign 0.08
R6431:Lrrc8d UTSW 5 105811760 missense probably damaging 1.00
R7127:Lrrc8d UTSW 5 105812963 missense probably damaging 1.00
R7682:Lrrc8d UTSW 5 105812791 missense probably damaging 1.00
R7821:Lrrc8d UTSW 5 105812344 missense probably damaging 1.00
RF003:Lrrc8d UTSW 5 105812641 missense probably damaging 1.00
X0024:Lrrc8d UTSW 5 105811745 missense probably damaging 0.99
Posted On2015-04-16