Incidental Mutation 'IGL00943:Lrrc8e'
ID 28035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc8e
Ensembl Gene ENSMUSG00000046589
Gene Name leucine rich repeat containing 8 family, member E
Synonyms 1810049O03Rik, C87354
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # IGL00943
Quality Score
Status
Chromosome 8
Chromosomal Location 4276827-4287470 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4285658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 628 (C628R)
Ref Sequence ENSEMBL: ENSMUSP00000052055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003027] [ENSMUST00000053035] [ENSMUST00000062686] [ENSMUST00000110994] [ENSMUST00000110995] [ENSMUST00000110998] [ENSMUST00000207770] [ENSMUST00000145165] [ENSMUST00000110999]
AlphaFold Q66JT1
Predicted Effect probably benign
Transcript: ENSMUST00000003027
SMART Domains Protein: ENSMUSP00000003027
Gene: ENSMUSG00000002948

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 69 89 N/A INTRINSIC
S_TKc 136 396 8.43e-72 SMART
low complexity region 435 455 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000053035
AA Change: C628R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052055
Gene: ENSMUSG00000046589
AA Change: C628R

DomainStartEndE-ValueType
Pfam:Pannexin_like 1 330 3.8e-143 PFAM
low complexity region 504 516 N/A INTRINSIC
LRR 603 627 3.97e0 SMART
LRR 628 650 2.33e2 SMART
LRR_TYP 651 674 6.08e-5 SMART
LRR 676 696 6.78e1 SMART
LRR_TYP 697 720 2.43e-4 SMART
LRR 721 742 1.09e2 SMART
LRR_TYP 743 766 9.44e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000062686
SMART Domains Protein: ENSMUSP00000054512
Gene: ENSMUSG00000002948

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 69 89 N/A INTRINSIC
S_TKc 136 396 8.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110994
SMART Domains Protein: ENSMUSP00000106622
Gene: ENSMUSG00000002948

DomainStartEndE-ValueType
S_TKc 47 307 8.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110995
SMART Domains Protein: ENSMUSP00000106623
Gene: ENSMUSG00000002948

DomainStartEndE-ValueType
S_TKc 47 307 8.43e-72 SMART
low complexity region 346 366 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110998
SMART Domains Protein: ENSMUSP00000106626
Gene: ENSMUSG00000002948

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 36 47 N/A INTRINSIC
low complexity region 53 73 N/A INTRINSIC
S_TKc 120 380 8.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207770
Predicted Effect probably benign
Transcript: ENSMUST00000145165
SMART Domains Protein: ENSMUSP00000117418
Gene: ENSMUSG00000109061

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 69 89 N/A INTRINSIC
S_TKc 136 396 8.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110999
SMART Domains Protein: ENSMUSP00000106627
Gene: ENSMUSG00000002948

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 36 47 N/A INTRINSIC
low complexity region 53 73 N/A INTRINSIC
S_TKc 120 380 8.43e-72 SMART
low complexity region 419 439 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A G 2: 31,680,824 (GRCm39) Y372C probably damaging Het
Carmil1 C T 13: 24,295,869 (GRCm39) V382M possibly damaging Het
Chkb A T 15: 89,312,951 (GRCm39) V138E probably damaging Het
Col7a1 G T 9: 108,806,765 (GRCm39) G2434* probably null Het
Cpa3 A G 3: 20,282,979 (GRCm39) V156A possibly damaging Het
Dicer1 A C 12: 104,663,031 (GRCm39) S1517A possibly damaging Het
Dnajc14 T G 10: 128,652,675 (GRCm39) S578A possibly damaging Het
Dse A G 10: 34,038,801 (GRCm39) Y201H probably damaging Het
Fam114a2 A T 11: 57,405,099 (GRCm39) M1K probably null Het
Gm4847 A T 1: 166,469,922 (GRCm39) S50R probably benign Het
Gpr156 A G 16: 37,808,938 (GRCm39) Y220C probably damaging Het
Grxcr1 T C 5: 68,189,638 (GRCm39) probably benign Het
Hspg2 T C 4: 137,289,512 (GRCm39) V3824A probably benign Het
Ino80b A T 6: 83,101,129 (GRCm39) L116Q probably damaging Het
Inpp5e A G 2: 26,290,163 (GRCm39) probably benign Het
Maml1 A G 11: 50,149,541 (GRCm39) V733A probably damaging Het
Mcm9 A G 10: 53,424,685 (GRCm39) L635P probably damaging Het
Myh15 A T 16: 48,986,176 (GRCm39) I1549F probably damaging Het
Myo1b T A 1: 51,823,646 (GRCm39) I414F probably damaging Het
Nlrc3 T A 16: 3,782,981 (GRCm39) I159F possibly damaging Het
Nvl A T 1: 180,929,199 (GRCm39) D727E possibly damaging Het
Or1l4 T C 2: 37,092,183 (GRCm39) V310A probably benign Het
Pgs1 A G 11: 117,896,366 (GRCm39) I348V probably benign Het
Pkp1 A T 1: 135,805,922 (GRCm39) V592E probably damaging Het
Setd7 T A 3: 51,440,459 (GRCm39) D194V probably damaging Het
Slc26a7 T C 4: 14,506,477 (GRCm39) D624G probably benign Het
Slc39a6 A G 18: 24,722,802 (GRCm39) probably null Het
Sorbs1 T C 19: 40,283,484 (GRCm39) probably benign Het
Tnfrsf19 A T 14: 61,261,631 (GRCm39) M56K possibly damaging Het
Togaram2 C T 17: 72,031,999 (GRCm39) R873C probably damaging Het
Tubgcp6 G A 15: 89,006,600 (GRCm39) R141* probably null Het
Vill A G 9: 118,892,380 (GRCm39) E337G probably damaging Het
Vmn1r17 A G 6: 57,338,185 (GRCm39) L11S possibly damaging Het
Other mutations in Lrrc8e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Lrrc8e APN 8 4,285,921 (GRCm39) missense probably benign
IGL00979:Lrrc8e APN 8 4,285,080 (GRCm39) missense probably damaging 1.00
IGL01138:Lrrc8e APN 8 4,284,084 (GRCm39) missense probably damaging 1.00
IGL01458:Lrrc8e APN 8 4,286,141 (GRCm39) missense probably damaging 1.00
IGL02524:Lrrc8e APN 8 4,285,392 (GRCm39) missense probably damaging 1.00
IGL02831:Lrrc8e APN 8 4,285,429 (GRCm39) missense probably damaging 0.96
IGL03135:Lrrc8e APN 8 4,285,776 (GRCm39) missense probably damaging 1.00
R0242:Lrrc8e UTSW 8 4,285,401 (GRCm39) missense probably benign 0.00
R0242:Lrrc8e UTSW 8 4,285,401 (GRCm39) missense probably benign 0.00
R0312:Lrrc8e UTSW 8 4,285,733 (GRCm39) missense probably benign
R0601:Lrrc8e UTSW 8 4,285,239 (GRCm39) splice site probably null
R1167:Lrrc8e UTSW 8 4,285,337 (GRCm39) missense probably benign
R1405:Lrrc8e UTSW 8 4,281,754 (GRCm39) missense probably damaging 1.00
R1405:Lrrc8e UTSW 8 4,281,754 (GRCm39) missense probably damaging 1.00
R1540:Lrrc8e UTSW 8 4,284,990 (GRCm39) missense probably benign 0.41
R1677:Lrrc8e UTSW 8 4,284,190 (GRCm39) missense probably damaging 1.00
R1916:Lrrc8e UTSW 8 4,285,202 (GRCm39) missense probably benign 0.01
R2185:Lrrc8e UTSW 8 4,284,986 (GRCm39) nonsense probably null
R2290:Lrrc8e UTSW 8 4,281,770 (GRCm39) missense probably damaging 1.00
R3424:Lrrc8e UTSW 8 4,284,611 (GRCm39) missense probably damaging 1.00
R4628:Lrrc8e UTSW 8 4,283,981 (GRCm39) missense probably damaging 1.00
R4996:Lrrc8e UTSW 8 4,285,166 (GRCm39) missense probably damaging 1.00
R5169:Lrrc8e UTSW 8 4,284,329 (GRCm39) missense probably benign
R5516:Lrrc8e UTSW 8 4,285,818 (GRCm39) missense probably damaging 1.00
R5870:Lrrc8e UTSW 8 4,285,725 (GRCm39) missense possibly damaging 0.60
R6687:Lrrc8e UTSW 8 4,284,798 (GRCm39) missense probably damaging 1.00
R6700:Lrrc8e UTSW 8 4,286,034 (GRCm39) missense probably damaging 1.00
R7344:Lrrc8e UTSW 8 4,284,815 (GRCm39) missense probably damaging 1.00
R7350:Lrrc8e UTSW 8 4,285,626 (GRCm39) missense probably benign 0.14
R7555:Lrrc8e UTSW 8 4,284,363 (GRCm39) missense probably benign 0.05
R7691:Lrrc8e UTSW 8 4,284,534 (GRCm39) missense probably damaging 1.00
R8112:Lrrc8e UTSW 8 4,285,575 (GRCm39) missense probably benign 0.14
R8184:Lrrc8e UTSW 8 4,285,140 (GRCm39) missense probably damaging 0.99
R8328:Lrrc8e UTSW 8 4,285,641 (GRCm39) missense probably damaging 1.00
R8355:Lrrc8e UTSW 8 4,284,018 (GRCm39) missense probably benign 0.02
R8487:Lrrc8e UTSW 8 4,284,218 (GRCm39) missense probably damaging 1.00
R8810:Lrrc8e UTSW 8 4,285,070 (GRCm39) missense probably benign 0.03
R8971:Lrrc8e UTSW 8 4,284,141 (GRCm39) missense probably damaging 1.00
R9088:Lrrc8e UTSW 8 4,284,410 (GRCm39) missense probably damaging 0.96
R9150:Lrrc8e UTSW 8 4,286,030 (GRCm39) missense probably benign 0.06
R9225:Lrrc8e UTSW 8 4,284,561 (GRCm39) missense probably damaging 1.00
R9255:Lrrc8e UTSW 8 4,284,504 (GRCm39) missense probably damaging 1.00
R9442:Lrrc8e UTSW 8 4,283,964 (GRCm39) missense probably benign 0.01
R9463:Lrrc8e UTSW 8 4,285,185 (GRCm39) missense probably damaging 0.99
R9475:Lrrc8e UTSW 8 4,285,346 (GRCm39) missense probably benign
Z1176:Lrrc8e UTSW 8 4,284,822 (GRCm39) missense probably damaging 0.97
Posted On 2013-04-17