Incidental Mutation 'IGL02883:Lrba'
ID 362886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrba
Ensembl Gene ENSMUSG00000028080
Gene Name LPS-responsive beige-like anchor
Synonyms Lba, D3Ertd775e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02883
Quality Score
Status
Chromosome 3
Chromosomal Location 86224680-86782692 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86445413 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1956 (I1956N)
Ref Sequence ENSEMBL: ENSMUSP00000142179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107635] [ENSMUST00000192145] [ENSMUST00000194759] [ENSMUST00000212390]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000107635
AA Change: I1956N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103261
Gene: ENSMUSG00000028080
AA Change: I1956N

DomainStartEndE-ValueType
low complexity region 12 31 N/A INTRINSIC
Pfam:Laminin_G_3 211 377 4.6e-13 PFAM
Pfam:DUF4704 446 717 2.5e-109 PFAM
coiled coil region 1019 1037 N/A INTRINSIC
low complexity region 1073 1089 N/A INTRINSIC
low complexity region 1100 1113 N/A INTRINSIC
low complexity region 1585 1600 N/A INTRINSIC
low complexity region 1614 1630 N/A INTRINSIC
low complexity region 1698 1713 N/A INTRINSIC
low complexity region 1738 1757 N/A INTRINSIC
low complexity region 1848 1861 N/A INTRINSIC
Pfam:DUF1088 1882 2049 7e-88 PFAM
Pfam:PH_BEACH 2075 2172 9.1e-31 PFAM
Beach 2203 2480 2.87e-207 SMART
WD40 2578 2615 7.4e0 SMART
WD40 2618 2661 1.72e0 SMART
WD40 2677 2716 3.99e-1 SMART
WD40 2760 2798 1.79e-1 SMART
WD40 2801 2840 4.28e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000192145
AA Change: I1956N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142179
Gene: ENSMUSG00000028080
AA Change: I1956N

DomainStartEndE-ValueType
low complexity region 12 31 N/A INTRINSIC
Pfam:Laminin_G_3 205 377 7.4e-18 PFAM
coiled coil region 1019 1037 N/A INTRINSIC
low complexity region 1073 1089 N/A INTRINSIC
low complexity region 1100 1113 N/A INTRINSIC
low complexity region 1585 1600 N/A INTRINSIC
low complexity region 1614 1630 N/A INTRINSIC
low complexity region 1698 1713 N/A INTRINSIC
low complexity region 1738 1757 N/A INTRINSIC
low complexity region 1848 1861 N/A INTRINSIC
Pfam:DUF1088 1882 2050 1.5e-92 PFAM
Pfam:PH_BEACH 2068 2172 7.5e-32 PFAM
Beach 2203 2480 2.87e-207 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194759
AA Change: I1956N

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000142043
Gene: ENSMUSG00000028080
AA Change: I1956N

DomainStartEndE-ValueType
low complexity region 12 31 N/A INTRINSIC
Pfam:Laminin_G_3 205 377 8.1e-18 PFAM
coiled coil region 1019 1037 N/A INTRINSIC
low complexity region 1073 1089 N/A INTRINSIC
low complexity region 1100 1113 N/A INTRINSIC
low complexity region 1585 1600 N/A INTRINSIC
low complexity region 1614 1630 N/A INTRINSIC
low complexity region 1698 1713 N/A INTRINSIC
low complexity region 1738 1757 N/A INTRINSIC
low complexity region 1848 1861 N/A INTRINSIC
Pfam:DUF1088 1882 2050 1.6e-92 PFAM
Pfam:PH_BEACH 2068 2172 8.3e-32 PFAM
Beach 2203 2480 2.87e-207 SMART
WD40 2578 2615 7.4e0 SMART
WD40 2618 2661 1.72e0 SMART
WD40 2677 2716 3.99e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000212390
AA Change: I1956N

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased numbers of myeloid-derived suppressor cells and regulatory T cells, abnormal NK cell physiology, impaired rejection of allogeneic, xenogeneic and missing self bone-marrow grafts, and resistance to acute graft vs host disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,716,972 (GRCm38) S186R possibly damaging Het
Acap2 A G 16: 31,096,345 (GRCm38) probably benign Het
Cacna1h G T 17: 25,380,532 (GRCm38) R1726S probably damaging Het
Cdca2 T C 14: 67,707,497 (GRCm38) S133G probably damaging Het
Cep295nl A T 11: 118,333,909 (GRCm38) S36R probably benign Het
Crispld1 A G 1: 17,746,789 (GRCm38) N190S possibly damaging Het
Crtam A G 9: 40,994,501 (GRCm38) V44A probably benign Het
Crtc1 C T 8: 70,406,125 (GRCm38) G112S probably benign Het
Cyp17a1 T C 19: 46,669,351 (GRCm38) N254S probably benign Het
Dmrta1 T C 4: 89,688,774 (GRCm38) S156P probably benign Het
Eno2 A C 6: 124,766,209 (GRCm38) V188G probably damaging Het
Fam20a A T 11: 109,675,127 (GRCm38) I427N probably damaging Het
Fat2 T C 11: 55,256,618 (GRCm38) K3933E probably benign Het
Gm15448 A G 7: 3,822,180 (GRCm38) S488P possibly damaging Het
Igkv8-30 T C 6: 70,117,617 (GRCm38) M1V probably null Het
Ist1 G A 8: 109,683,668 (GRCm38) probably benign Het
Kank4 T C 4: 98,773,453 (GRCm38) E765G possibly damaging Het
Kat14 T C 2: 144,393,529 (GRCm38) L92S probably damaging Het
Kcnu1 G A 8: 25,849,827 (GRCm38) V58I probably benign Het
Mdn1 G A 4: 32,763,199 (GRCm38) V5100I probably benign Het
Mkrn2os C A 6: 115,586,709 (GRCm38) G122* probably null Het
Nme3 T C 17: 24,896,906 (GRCm38) Y78H probably benign Het
Pkd1l2 G A 8: 117,065,745 (GRCm38) T436I probably benign Het
Ppp2r5c T G 12: 110,522,563 (GRCm38) V56G possibly damaging Het
Pramef25 T C 4: 143,949,848 (GRCm38) T229A possibly damaging Het
Prdm10 G A 9: 31,327,348 (GRCm38) V179M probably damaging Het
Rab11fip2 A G 19: 59,906,998 (GRCm38) V344A probably damaging Het
Selp G A 1: 164,130,102 (GRCm38) A267T probably benign Het
Sf3a1 T A 11: 4,179,192 (GRCm38) W718R probably damaging Het
Taar9 T C 10: 24,109,480 (GRCm38) N19D probably benign Het
Tas2r113 T G 6: 132,893,419 (GRCm38) S137A probably damaging Het
Traf4 A T 11: 78,161,621 (GRCm38) I66N possibly damaging Het
Ucp3 A T 7: 100,480,642 (GRCm38) T164S probably benign Het
Uggt1 A T 1: 36,177,615 (GRCm38) N96K probably benign Het
Uqcc1 T A 2: 155,911,829 (GRCm38) Q42L possibly damaging Het
Vmn1r128 A G 7: 21,349,515 (GRCm38) K48R probably benign Het
Other mutations in Lrba
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Lrba APN 3 86,359,782 (GRCm38) missense probably benign 0.00
IGL00788:Lrba APN 3 86,327,685 (GRCm38) missense probably damaging 0.97
IGL01139:Lrba APN 3 86,642,662 (GRCm38) missense possibly damaging 0.88
IGL01302:Lrba APN 3 86,295,400 (GRCm38) missense probably damaging 1.00
IGL01612:Lrba APN 3 86,776,177 (GRCm38) missense possibly damaging 0.89
IGL01718:Lrba APN 3 86,351,248 (GRCm38) missense probably damaging 1.00
IGL01719:Lrba APN 3 86,327,596 (GRCm38) splice site probably benign
IGL01730:Lrba APN 3 86,741,424 (GRCm38) missense possibly damaging 0.89
IGL01735:Lrba APN 3 86,327,661 (GRCm38) missense probably benign 0.28
IGL01875:Lrba APN 3 86,310,047 (GRCm38) missense probably damaging 1.00
IGL01884:Lrba APN 3 86,310,412 (GRCm38) missense possibly damaging 0.86
IGL02264:Lrba APN 3 86,780,262 (GRCm38) missense probably damaging 0.99
IGL02638:Lrba APN 3 86,325,073 (GRCm38) missense probably damaging 0.97
IGL02647:Lrba APN 3 86,359,731 (GRCm38) missense probably benign 0.00
IGL02664:Lrba APN 3 86,325,731 (GRCm38) missense possibly damaging 0.84
IGL02728:Lrba APN 3 86,776,049 (GRCm38) missense probably damaging 0.99
IGL02730:Lrba APN 3 86,328,199 (GRCm38) missense probably damaging 1.00
IGL02883:Lrba APN 3 86,354,206 (GRCm38) missense probably damaging 1.00
IGL02948:Lrba APN 3 86,310,384 (GRCm38) splice site probably null
IGL03090:Lrba APN 3 86,773,141 (GRCm38) missense probably benign 0.01
molasses UTSW 3 86,354,307 (GRCm38) critical splice donor site probably null
oscar UTSW 3 86,350,304 (GRCm38) nonsense probably null
oscar2 UTSW 3 86,664,458 (GRCm38) nonsense probably null
P0023:Lrba UTSW 3 86,417,935 (GRCm38) missense probably damaging 1.00
PIT4802001:Lrba UTSW 3 86,664,494 (GRCm38) nonsense probably null
R0077:Lrba UTSW 3 86,542,688 (GRCm38) missense probably damaging 0.99
R0189:Lrba UTSW 3 86,368,509 (GRCm38) missense probably damaging 1.00
R0217:Lrba UTSW 3 86,642,722 (GRCm38) missense probably damaging 1.00
R0349:Lrba UTSW 3 86,540,005 (GRCm38) missense probably damaging 1.00
R0396:Lrba UTSW 3 86,295,179 (GRCm38) missense probably damaging 1.00
R0417:Lrba UTSW 3 86,715,654 (GRCm38) missense probably damaging 1.00
R0536:Lrba UTSW 3 86,715,532 (GRCm38) missense probably damaging 1.00
R0712:Lrba UTSW 3 86,297,990 (GRCm38) nonsense probably null
R0722:Lrba UTSW 3 86,605,989 (GRCm38) critical splice donor site probably null
R0828:Lrba UTSW 3 86,608,370 (GRCm38) splice site probably null
R0927:Lrba UTSW 3 86,780,233 (GRCm38) missense probably damaging 1.00
R1120:Lrba UTSW 3 86,295,192 (GRCm38) missense probably damaging 1.00
R1141:Lrba UTSW 3 86,619,558 (GRCm38) missense probably damaging 1.00
R1276:Lrba UTSW 3 86,664,526 (GRCm38) missense probably damaging 1.00
R1449:Lrba UTSW 3 86,354,278 (GRCm38) missense probably damaging 1.00
R1470:Lrba UTSW 3 86,737,142 (GRCm38) missense probably damaging 1.00
R1470:Lrba UTSW 3 86,737,142 (GRCm38) missense probably damaging 1.00
R1474:Lrba UTSW 3 86,780,266 (GRCm38) splice site probably benign
R1558:Lrba UTSW 3 86,351,315 (GRCm38) missense probably damaging 1.00
R1596:Lrba UTSW 3 86,350,304 (GRCm38) nonsense probably null
R1652:Lrba UTSW 3 86,539,938 (GRCm38) missense probably damaging 1.00
R1800:Lrba UTSW 3 86,351,868 (GRCm38) missense probably benign 0.00
R1819:Lrba UTSW 3 86,542,634 (GRCm38) missense possibly damaging 0.80
R1862:Lrba UTSW 3 86,773,203 (GRCm38) critical splice donor site probably null
R1917:Lrba UTSW 3 86,664,501 (GRCm38) missense probably damaging 1.00
R1965:Lrba UTSW 3 86,605,868 (GRCm38) critical splice acceptor site probably null
R1966:Lrba UTSW 3 86,605,868 (GRCm38) critical splice acceptor site probably null
R1969:Lrba UTSW 3 86,608,389 (GRCm38) missense probably damaging 0.99
R2011:Lrba UTSW 3 86,310,017 (GRCm38) missense probably damaging 0.99
R2179:Lrba UTSW 3 86,354,281 (GRCm38) missense probably damaging 1.00
R2186:Lrba UTSW 3 86,304,336 (GRCm38) missense probably damaging 1.00
R2281:Lrba UTSW 3 86,776,103 (GRCm38) missense possibly damaging 0.46
R2359:Lrba UTSW 3 86,348,750 (GRCm38) missense probably benign 0.01
R2412:Lrba UTSW 3 86,327,700 (GRCm38) missense probably damaging 1.00
R2496:Lrba UTSW 3 86,532,087 (GRCm38) missense probably damaging 1.00
R3153:Lrba UTSW 3 86,285,219 (GRCm38) missense probably damaging 0.99
R3708:Lrba UTSW 3 86,285,024 (GRCm38) missense possibly damaging 0.80
R3746:Lrba UTSW 3 86,375,953 (GRCm38) missense probably damaging 1.00
R3747:Lrba UTSW 3 86,375,953 (GRCm38) missense probably damaging 1.00
R3748:Lrba UTSW 3 86,375,953 (GRCm38) missense probably damaging 1.00
R3749:Lrba UTSW 3 86,375,953 (GRCm38) missense probably damaging 1.00
R3750:Lrba UTSW 3 86,375,953 (GRCm38) missense probably damaging 1.00
R3758:Lrba UTSW 3 86,776,049 (GRCm38) missense probably damaging 0.99
R3975:Lrba UTSW 3 86,351,255 (GRCm38) missense probably damaging 1.00
R4210:Lrba UTSW 3 86,360,126 (GRCm38) missense probably damaging 1.00
R4258:Lrba UTSW 3 86,445,349 (GRCm38) missense probably damaging 1.00
R4657:Lrba UTSW 3 86,737,164 (GRCm38) missense probably damaging 1.00
R4713:Lrba UTSW 3 86,359,868 (GRCm38) missense probably benign 0.13
R4716:Lrba UTSW 3 86,642,714 (GRCm38) missense probably damaging 0.99
R4811:Lrba UTSW 3 86,776,141 (GRCm38) missense probably damaging 1.00
R4827:Lrba UTSW 3 86,360,150 (GRCm38) missense possibly damaging 0.85
R4840:Lrba UTSW 3 86,619,509 (GRCm38) critical splice acceptor site probably null
R4920:Lrba UTSW 3 86,664,458 (GRCm38) nonsense probably null
R4948:Lrba UTSW 3 86,285,028 (GRCm38) missense probably damaging 1.00
R4970:Lrba UTSW 3 86,225,371 (GRCm38) missense probably benign 0.23
R4985:Lrba UTSW 3 86,327,436 (GRCm38) splice site probably null
R4993:Lrba UTSW 3 86,360,037 (GRCm38) missense probably damaging 1.00
R5107:Lrba UTSW 3 86,359,779 (GRCm38) missense possibly damaging 0.47
R5112:Lrba UTSW 3 86,225,371 (GRCm38) missense probably benign 0.23
R5122:Lrba UTSW 3 86,349,154 (GRCm38) nonsense probably null
R5155:Lrba UTSW 3 86,351,300 (GRCm38) missense probably benign 0.25
R5194:Lrba UTSW 3 86,328,219 (GRCm38) missense probably damaging 1.00
R5280:Lrba UTSW 3 86,325,022 (GRCm38) missense possibly damaging 0.94
R5445:Lrba UTSW 3 86,368,595 (GRCm38) missense probably benign
R5469:Lrba UTSW 3 86,542,641 (GRCm38) missense probably damaging 1.00
R5513:Lrba UTSW 3 86,542,641 (GRCm38) missense probably damaging 1.00
R5578:Lrba UTSW 3 86,757,507 (GRCm38) missense probably benign 0.27
R5740:Lrba UTSW 3 86,328,342 (GRCm38) missense probably damaging 1.00
R5868:Lrba UTSW 3 86,319,604 (GRCm38) missense probably damaging 1.00
R6104:Lrba UTSW 3 86,353,792 (GRCm38) missense probably damaging 1.00
R6166:Lrba UTSW 3 86,354,307 (GRCm38) critical splice donor site probably null
R6279:Lrba UTSW 3 86,348,864 (GRCm38) missense probably benign 0.26
R6330:Lrba UTSW 3 86,348,357 (GRCm38) missense probably benign 0.07
R6367:Lrba UTSW 3 86,368,562 (GRCm38) missense probably benign 0.42
R6571:Lrba UTSW 3 86,360,060 (GRCm38) missense probably damaging 1.00
R6584:Lrba UTSW 3 86,664,576 (GRCm38) missense probably damaging 1.00
R6698:Lrba UTSW 3 86,304,425 (GRCm38) missense probably damaging 0.99
R6763:Lrba UTSW 3 86,354,263 (GRCm38) missense probably damaging 1.00
R6834:Lrba UTSW 3 86,350,286 (GRCm38) missense probably benign 0.00
R6951:Lrba UTSW 3 86,745,873 (GRCm38) missense probably benign 0.01
R6969:Lrba UTSW 3 86,619,590 (GRCm38) missense probably benign 0.21
R7045:Lrba UTSW 3 86,285,091 (GRCm38) missense probably benign 0.03
R7133:Lrba UTSW 3 86,394,931 (GRCm38) splice site probably null
R7182:Lrba UTSW 3 86,741,458 (GRCm38) frame shift probably null
R7214:Lrba UTSW 3 86,328,326 (GRCm38) missense probably damaging 1.00
R7224:Lrba UTSW 3 86,395,246 (GRCm38) missense probably damaging 1.00
R7243:Lrba UTSW 3 86,751,516 (GRCm38) splice site probably null
R7350:Lrba UTSW 3 86,351,902 (GRCm38) missense probably damaging 0.96
R7380:Lrba UTSW 3 86,325,074 (GRCm38) missense probably damaging 1.00
R7492:Lrba UTSW 3 86,664,528 (GRCm38) missense probably damaging 1.00
R7651:Lrba UTSW 3 86,741,466 (GRCm38) nonsense probably null
R7729:Lrba UTSW 3 86,318,167 (GRCm38) missense probably damaging 1.00
R7754:Lrba UTSW 3 86,445,397 (GRCm38) missense probably damaging 1.00
R7762:Lrba UTSW 3 86,532,201 (GRCm38) missense probably damaging 0.99
R7855:Lrba UTSW 3 86,315,430 (GRCm38) missense possibly damaging 0.94
R7867:Lrba UTSW 3 86,368,589 (GRCm38) missense probably damaging 1.00
R7912:Lrba UTSW 3 86,715,565 (GRCm38) missense probably damaging 1.00
R7995:Lrba UTSW 3 86,619,551 (GRCm38) missense probably damaging 1.00
R8013:Lrba UTSW 3 86,417,971 (GRCm38) missense probably damaging 1.00
R8014:Lrba UTSW 3 86,417,971 (GRCm38) missense probably damaging 1.00
R8024:Lrba UTSW 3 86,295,401 (GRCm38) nonsense probably null
R8027:Lrba UTSW 3 86,417,912 (GRCm38) missense probably benign 0.05
R8090:Lrba UTSW 3 86,348,489 (GRCm38) missense probably benign
R8111:Lrba UTSW 3 86,327,705 (GRCm38) missense probably damaging 1.00
R8118:Lrba UTSW 3 86,354,226 (GRCm38) missense probably benign
R8204:Lrba UTSW 3 86,315,403 (GRCm38) missense possibly damaging 0.95
R8239:Lrba UTSW 3 86,542,575 (GRCm38) missense probably damaging 1.00
R8509:Lrba UTSW 3 86,348,176 (GRCm38) missense probably benign 0.04
R8532:Lrba UTSW 3 86,757,483 (GRCm38) missense probably damaging 1.00
R8726:Lrba UTSW 3 86,353,755 (GRCm38) missense probably benign
R8744:Lrba UTSW 3 86,304,333 (GRCm38) missense probably benign 0.08
R8782:Lrba UTSW 3 86,642,669 (GRCm38) missense probably benign 0.00
R8784:Lrba UTSW 3 86,375,928 (GRCm38) missense probably damaging 1.00
R8922:Lrba UTSW 3 86,356,666 (GRCm38) missense probably damaging 1.00
R8964:Lrba UTSW 3 86,351,245 (GRCm38) missense probably benign 0.22
R8971:Lrba UTSW 3 86,615,081 (GRCm38) missense probably benign 0.00
R9046:Lrba UTSW 3 86,395,236 (GRCm38) missense possibly damaging 0.94
R9155:Lrba UTSW 3 86,295,201 (GRCm38) missense probably damaging 1.00
R9236:Lrba UTSW 3 86,353,759 (GRCm38) missense probably benign 0.05
R9266:Lrba UTSW 3 86,291,467 (GRCm38) missense probably benign 0.08
R9297:Lrba UTSW 3 86,373,566 (GRCm38) missense probably damaging 1.00
R9404:Lrba UTSW 3 86,297,917 (GRCm38) missense probably damaging 0.99
R9617:Lrba UTSW 3 86,359,862 (GRCm38) missense probably benign
R9640:Lrba UTSW 3 86,619,568 (GRCm38) nonsense probably null
R9779:Lrba UTSW 3 86,325,771 (GRCm38) missense probably damaging 1.00
X0065:Lrba UTSW 3 86,325,089 (GRCm38) missense possibly damaging 0.95
X0065:Lrba UTSW 3 86,297,899 (GRCm38) missense probably damaging 1.00
Z1176:Lrba UTSW 3 86,751,532 (GRCm38) missense possibly damaging 0.85
Z1176:Lrba UTSW 3 86,715,538 (GRCm38) missense probably benign 0.31
Z1177:Lrba UTSW 3 86,540,049 (GRCm38) missense probably null 1.00
Posted On 2015-12-18