Incidental Mutation 'IGL02831:Lrrc8e'
ID 361423
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 # IGL02831
Quality Score
Status
Chromosome 8
Chromosomal Location 4276827-4287470 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4285429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 551 (S551R)
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: S551R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052055
Gene: ENSMUSG00000046589
AA Change: S551R

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C T 11: 109,943,907 (GRCm39) V1121M probably damaging Het
Acrbp C A 6: 125,038,212 (GRCm39) T471N possibly damaging Het
Blnk C T 19: 40,950,873 (GRCm39) D93N probably damaging Het
Casp7 A G 19: 56,392,855 (GRCm39) D3G probably benign Het
Coro1c A T 5: 113,982,469 (GRCm39) C456S probably benign Het
Dlec1 T G 9: 118,972,983 (GRCm39) L1499R probably damaging Het
Dnah8 T C 17: 30,931,250 (GRCm39) S1422P probably benign Het
Exd1 T C 2: 119,359,235 (GRCm39) D216G probably damaging Het
Fhit T C 14: 9,870,080 (GRCm38) T130A probably benign Het
Frem1 A T 4: 82,874,395 (GRCm39) M1409K probably benign Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Glb1l2 A G 9: 26,678,746 (GRCm39) V465A probably benign Het
Ints8 T C 4: 11,245,896 (GRCm39) Q194R possibly damaging Het
Ip6k2 C T 9: 108,681,733 (GRCm39) probably benign Het
Kctd2 T A 11: 115,321,166 (GRCm39) *264K probably null Het
Krt34 C A 11: 99,930,973 (GRCm39) probably benign Het
Lamc1 A G 1: 153,122,801 (GRCm39) S760P probably benign Het
Lrp1b T C 2: 41,083,603 (GRCm39) N1702S probably damaging Het
Map3k20 T C 2: 72,202,071 (GRCm39) V139A probably damaging Het
Mrtfa A G 15: 80,988,994 (GRCm39) L9P probably benign Het
Napsa A G 7: 44,236,184 (GRCm39) T408A probably benign Het
Or2h15 T C 17: 38,441,403 (GRCm39) K227E probably benign Het
Or2w6 T C 13: 21,843,074 (GRCm39) I140V probably benign Het
Or5l13 T C 2: 87,780,020 (GRCm39) probably null Het
Panx1 A G 9: 14,918,944 (GRCm39) L305P probably damaging Het
Pkhd1l1 A G 15: 44,364,889 (GRCm39) H676R probably benign Het
Pld1 T A 3: 28,130,574 (GRCm39) V458E probably damaging Het
Ppp5c A G 7: 16,742,570 (GRCm39) L256P probably damaging Het
Pyroxd2 G T 19: 42,724,342 (GRCm39) T307K probably damaging Het
Scart1 G T 7: 139,808,434 (GRCm39) V782L probably benign Het
Sin3b A G 8: 73,471,190 (GRCm39) E379G probably damaging Het
Slc22a23 T C 13: 34,483,052 (GRCm39) T276A possibly damaging Het
Slc26a3 T C 12: 31,502,628 (GRCm39) I283T probably damaging Het
Sltm A G 9: 70,492,147 (GRCm39) D712G probably damaging Het
Slu7 C T 11: 43,333,480 (GRCm39) Q367* probably null Het
Srbd1 T C 17: 86,311,299 (GRCm39) N706S probably damaging Het
Supt16 A T 14: 52,408,335 (GRCm39) M870K possibly damaging Het
Tnxb T C 17: 34,922,545 (GRCm39) Y2453H possibly damaging Het
Tomm40 A G 7: 19,437,014 (GRCm39) Y274H probably damaging Het
Utp20 A T 10: 88,651,770 (GRCm39) D404E probably benign Het
Vmn2r23 T A 6: 123,681,344 (GRCm39) M84K probably benign Het
Wdr70 A G 15: 7,913,787 (GRCm39) Y621H possibly damaging Het
Wfdc8 C T 2: 164,447,685 (GRCm39) probably null Het
Other mutations in Lrrc8e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Lrrc8e APN 8 4,285,921 (GRCm39) missense probably benign
IGL00943:Lrrc8e APN 8 4,285,658 (GRCm39) missense probably damaging 1.00
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
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 2015-12-18