Mutagenetix > Incidental Mutation

Incidental Mutation 'R2412:Lrba'

250026

Institutional Source

Beutler Lab

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 #

R2412 (G1)

Quality Score

193

Status

Not validated

Chromosome

Chromosomal Location

86131987-86689999 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86235007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 851 (N851D)

Ref Sequence

ENSEMBL: ENSMUSP00000148618 (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: N851D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103261
Gene: ENSMUSG00000028080
AA Change: N851D

Domain	Start	End	E-Value	Type
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: N851D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142179
Gene: ENSMUSG00000028080
AA Change: N851D

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000194759
AA Change: N851D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142043
Gene: ENSMUSG00000028080
AA Change: N851D

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000212390
AA Change: N851D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,127,740 (GRCm39)	Q114L	probably benign	Het
Adamts3	A	G	5: 89,849,630 (GRCm39)	Y597H	probably damaging	Het
Bmi1	A	G	2: 18,688,525 (GRCm39)	H172R	probably damaging	Het
Cyp3a44	A	T	5: 145,716,389 (GRCm39)	Y400*	probably null	Het
Dennd5b	T	C	6: 148,906,736 (GRCm39)	T1062A	possibly damaging	Het
Dync2h1	T	C	9: 7,144,246 (GRCm39)	D1065G	probably benign	Het
Ephb1	G	A	9: 101,879,015 (GRCm39)	R492C	possibly damaging	Het
Fat4	A	T	3: 39,011,221 (GRCm39)	H2107L	probably benign	Het
Itga8	A	G	2: 12,306,526 (GRCm39)	V23A	probably benign	Het
Ltbp3	A	G	19: 5,796,673 (GRCm39)	T322A	probably benign	Het
Ntpcr	T	C	8: 126,472,144 (GRCm39)	V151A	probably damaging	Het
Or8h7	T	C	2: 86,721,178 (GRCm39)	I114V	probably benign	Het
Or9g3	C	A	2: 85,590,024 (GRCm39)	G232V	probably damaging	Het
Pramel51	A	G	12: 88,143,880 (GRCm39)	V311A	probably damaging	Het
Rps6ka4	A	T	19: 6,807,309 (GRCm39)	*774K	probably null	Het
Slc12a5	T	C	2: 164,818,382 (GRCm39)		probably null	Het
Tmem219	T	C	7: 126,495,939 (GRCm39)	S37G	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubb1	A	G	2: 174,298,903 (GRCm39)	N195S	possibly damaging	Het
Zan	A	G	5: 137,412,425 (GRCm39)		probably null	Het
Zfp85	T	C	13: 67,897,765 (GRCm39)	I102M	probably damaging	Het

Other mutations in Lrba

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Lrba	APN	3	86,267,089 (GRCm39)	missense	probably benign	0.00
IGL00788:Lrba	APN	3	86,234,992 (GRCm39)	missense	probably damaging	0.97
IGL01139:Lrba	APN	3	86,549,969 (GRCm39)	missense	possibly damaging	0.88
IGL01302:Lrba	APN	3	86,202,707 (GRCm39)	missense	probably damaging	1.00
IGL01612:Lrba	APN	3	86,683,484 (GRCm39)	missense	possibly damaging	0.89
IGL01718:Lrba	APN	3	86,258,555 (GRCm39)	missense	probably damaging	1.00
IGL01719:Lrba	APN	3	86,234,903 (GRCm39)	splice site	probably benign
IGL01730:Lrba	APN	3	86,648,731 (GRCm39)	missense	possibly damaging	0.89
IGL01735:Lrba	APN	3	86,234,968 (GRCm39)	missense	probably benign	0.28
IGL01875:Lrba	APN	3	86,217,354 (GRCm39)	missense	probably damaging	1.00
IGL01884:Lrba	APN	3	86,217,719 (GRCm39)	missense	possibly damaging	0.86
IGL02264:Lrba	APN	3	86,687,569 (GRCm39)	missense	probably damaging	0.99
IGL02638:Lrba	APN	3	86,232,380 (GRCm39)	missense	probably damaging	0.97
IGL02647:Lrba	APN	3	86,267,038 (GRCm39)	missense	probably benign	0.00
IGL02664:Lrba	APN	3	86,233,038 (GRCm39)	missense	possibly damaging	0.84
IGL02728:Lrba	APN	3	86,683,356 (GRCm39)	missense	probably damaging	0.99
IGL02730:Lrba	APN	3	86,235,506 (GRCm39)	missense	probably damaging	1.00
IGL02883:Lrba	APN	3	86,352,720 (GRCm39)	missense	probably damaging	0.99
IGL02883:Lrba	APN	3	86,261,513 (GRCm39)	missense	probably damaging	1.00
IGL02948:Lrba	APN	3	86,217,691 (GRCm39)	splice site	probably null
IGL03090:Lrba	APN	3	86,680,448 (GRCm39)	missense	probably benign	0.01
molasses	UTSW	3	86,261,614 (GRCm39)	critical splice donor site	probably null
oscar	UTSW	3	86,257,611 (GRCm39)	nonsense	probably null
oscar2	UTSW	3	86,571,765 (GRCm39)	nonsense	probably null
P0023:Lrba	UTSW	3	86,325,242 (GRCm39)	missense	probably damaging	1.00
PIT4802001:Lrba	UTSW	3	86,571,801 (GRCm39)	nonsense	probably null
R0077:Lrba	UTSW	3	86,449,995 (GRCm39)	missense	probably damaging	0.99
R0189:Lrba	UTSW	3	86,275,816 (GRCm39)	missense	probably damaging	1.00
R0217:Lrba	UTSW	3	86,550,029 (GRCm39)	missense	probably damaging	1.00
R0349:Lrba	UTSW	3	86,447,312 (GRCm39)	missense	probably damaging	1.00
R0396:Lrba	UTSW	3	86,202,486 (GRCm39)	missense	probably damaging	1.00
R0417:Lrba	UTSW	3	86,622,961 (GRCm39)	missense	probably damaging	1.00
R0536:Lrba	UTSW	3	86,622,839 (GRCm39)	missense	probably damaging	1.00
R0712:Lrba	UTSW	3	86,205,297 (GRCm39)	nonsense	probably null
R0722:Lrba	UTSW	3	86,513,296 (GRCm39)	critical splice donor site	probably null
R0828:Lrba	UTSW	3	86,515,677 (GRCm39)	splice site	probably null
R0927:Lrba	UTSW	3	86,687,540 (GRCm39)	missense	probably damaging	1.00
R1120:Lrba	UTSW	3	86,202,499 (GRCm39)	missense	probably damaging	1.00
R1141:Lrba	UTSW	3	86,526,865 (GRCm39)	missense	probably damaging	1.00
R1276:Lrba	UTSW	3	86,571,833 (GRCm39)	missense	probably damaging	1.00
R1449:Lrba	UTSW	3	86,261,585 (GRCm39)	missense	probably damaging	1.00
R1470:Lrba	UTSW	3	86,644,449 (GRCm39)	missense	probably damaging	1.00
R1470:Lrba	UTSW	3	86,644,449 (GRCm39)	missense	probably damaging	1.00
R1474:Lrba	UTSW	3	86,687,573 (GRCm39)	splice site	probably benign
R1558:Lrba	UTSW	3	86,258,622 (GRCm39)	missense	probably damaging	1.00
R1596:Lrba	UTSW	3	86,257,611 (GRCm39)	nonsense	probably null
R1652:Lrba	UTSW	3	86,447,245 (GRCm39)	missense	probably damaging	1.00
R1800:Lrba	UTSW	3	86,259,175 (GRCm39)	missense	probably benign	0.00
R1819:Lrba	UTSW	3	86,449,941 (GRCm39)	missense	possibly damaging	0.80
R1862:Lrba	UTSW	3	86,680,510 (GRCm39)	critical splice donor site	probably null
R1917:Lrba	UTSW	3	86,571,808 (GRCm39)	missense	probably damaging	1.00
R1965:Lrba	UTSW	3	86,513,175 (GRCm39)	critical splice acceptor site	probably null
R1966:Lrba	UTSW	3	86,513,175 (GRCm39)	critical splice acceptor site	probably null
R1969:Lrba	UTSW	3	86,515,696 (GRCm39)	missense	probably damaging	0.99
R2011:Lrba	UTSW	3	86,217,324 (GRCm39)	missense	probably damaging	0.99
R2179:Lrba	UTSW	3	86,261,588 (GRCm39)	missense	probably damaging	1.00
R2186:Lrba	UTSW	3	86,211,643 (GRCm39)	missense	probably damaging	1.00
R2281:Lrba	UTSW	3	86,683,410 (GRCm39)	missense	possibly damaging	0.46
R2359:Lrba	UTSW	3	86,256,057 (GRCm39)	missense	probably benign	0.01
R2496:Lrba	UTSW	3	86,439,394 (GRCm39)	missense	probably damaging	1.00
R3153:Lrba	UTSW	3	86,192,526 (GRCm39)	missense	probably damaging	0.99
R3708:Lrba	UTSW	3	86,192,331 (GRCm39)	missense	possibly damaging	0.80
R3746:Lrba	UTSW	3	86,283,260 (GRCm39)	missense	probably damaging	1.00
R3747:Lrba	UTSW	3	86,283,260 (GRCm39)	missense	probably damaging	1.00
R3748:Lrba	UTSW	3	86,283,260 (GRCm39)	missense	probably damaging	1.00
R3749:Lrba	UTSW	3	86,283,260 (GRCm39)	missense	probably damaging	1.00
R3750:Lrba	UTSW	3	86,283,260 (GRCm39)	missense	probably damaging	1.00
R3758:Lrba	UTSW	3	86,683,356 (GRCm39)	missense	probably damaging	0.99
R3975:Lrba	UTSW	3	86,258,562 (GRCm39)	missense	probably damaging	1.00
R4210:Lrba	UTSW	3	86,267,433 (GRCm39)	missense	probably damaging	1.00
R4258:Lrba	UTSW	3	86,352,656 (GRCm39)	missense	probably damaging	1.00
R4657:Lrba	UTSW	3	86,644,471 (GRCm39)	missense	probably damaging	1.00
R4713:Lrba	UTSW	3	86,267,175 (GRCm39)	missense	probably benign	0.13
R4716:Lrba	UTSW	3	86,550,021 (GRCm39)	missense	probably damaging	0.99
R4811:Lrba	UTSW	3	86,683,448 (GRCm39)	missense	probably damaging	1.00
R4827:Lrba	UTSW	3	86,267,457 (GRCm39)	missense	possibly damaging	0.85
R4840:Lrba	UTSW	3	86,526,816 (GRCm39)	critical splice acceptor site	probably null
R4920:Lrba	UTSW	3	86,571,765 (GRCm39)	nonsense	probably null
R4948:Lrba	UTSW	3	86,192,335 (GRCm39)	missense	probably damaging	1.00
R4970:Lrba	UTSW	3	86,132,678 (GRCm39)	missense	probably benign	0.23
R4985:Lrba	UTSW	3	86,234,743 (GRCm39)	splice site	probably null
R4993:Lrba	UTSW	3	86,267,344 (GRCm39)	missense	probably damaging	1.00
R5107:Lrba	UTSW	3	86,267,086 (GRCm39)	missense	possibly damaging	0.47
R5112:Lrba	UTSW	3	86,132,678 (GRCm39)	missense	probably benign	0.23
R5122:Lrba	UTSW	3	86,256,461 (GRCm39)	nonsense	probably null
R5155:Lrba	UTSW	3	86,258,607 (GRCm39)	missense	probably benign	0.25
R5194:Lrba	UTSW	3	86,235,526 (GRCm39)	missense	probably damaging	1.00
R5280:Lrba	UTSW	3	86,232,329 (GRCm39)	missense	possibly damaging	0.94
R5445:Lrba	UTSW	3	86,275,902 (GRCm39)	missense	probably benign
R5469:Lrba	UTSW	3	86,449,948 (GRCm39)	missense	probably damaging	1.00
R5513:Lrba	UTSW	3	86,449,948 (GRCm39)	missense	probably damaging	1.00
R5578:Lrba	UTSW	3	86,664,814 (GRCm39)	missense	probably benign	0.27
R5740:Lrba	UTSW	3	86,235,649 (GRCm39)	missense	probably damaging	1.00
R5868:Lrba	UTSW	3	86,226,911 (GRCm39)	missense	probably damaging	1.00
R6104:Lrba	UTSW	3	86,261,099 (GRCm39)	missense	probably damaging	1.00
R6166:Lrba	UTSW	3	86,261,614 (GRCm39)	critical splice donor site	probably null
R6279:Lrba	UTSW	3	86,256,171 (GRCm39)	missense	probably benign	0.26
R6330:Lrba	UTSW	3	86,255,664 (GRCm39)	missense	probably benign	0.07
R6367:Lrba	UTSW	3	86,275,869 (GRCm39)	missense	probably benign	0.42
R6571:Lrba	UTSW	3	86,267,367 (GRCm39)	missense	probably damaging	1.00
R6584:Lrba	UTSW	3	86,571,883 (GRCm39)	missense	probably damaging	1.00
R6698:Lrba	UTSW	3	86,211,732 (GRCm39)	missense	probably damaging	0.99
R6763:Lrba	UTSW	3	86,261,570 (GRCm39)	missense	probably damaging	1.00
R6834:Lrba	UTSW	3	86,257,593 (GRCm39)	missense	probably benign	0.00
R6951:Lrba	UTSW	3	86,653,180 (GRCm39)	missense	probably benign	0.01
R6969:Lrba	UTSW	3	86,526,897 (GRCm39)	missense	probably benign	0.21
R7045:Lrba	UTSW	3	86,192,398 (GRCm39)	missense	probably benign	0.03
R7133:Lrba	UTSW	3	86,302,238 (GRCm39)	splice site	probably null
R7182:Lrba	UTSW	3	86,648,765 (GRCm39)	frame shift	probably null
R7214:Lrba	UTSW	3	86,235,633 (GRCm39)	missense	probably damaging	1.00
R7224:Lrba	UTSW	3	86,302,553 (GRCm39)	missense	probably damaging	1.00
R7243:Lrba	UTSW	3	86,658,823 (GRCm39)	splice site	probably null
R7350:Lrba	UTSW	3	86,259,209 (GRCm39)	missense	probably damaging	0.96
R7380:Lrba	UTSW	3	86,232,381 (GRCm39)	missense	probably damaging	1.00
R7492:Lrba	UTSW	3	86,571,835 (GRCm39)	missense	probably damaging	1.00
R7651:Lrba	UTSW	3	86,648,773 (GRCm39)	nonsense	probably null
R7729:Lrba	UTSW	3	86,225,474 (GRCm39)	missense	probably damaging	1.00
R7754:Lrba	UTSW	3	86,352,704 (GRCm39)	missense	probably damaging	1.00
R7762:Lrba	UTSW	3	86,439,508 (GRCm39)	missense	probably damaging	0.99
R7855:Lrba	UTSW	3	86,222,737 (GRCm39)	missense	possibly damaging	0.94
R7867:Lrba	UTSW	3	86,275,896 (GRCm39)	missense	probably damaging	1.00
R7912:Lrba	UTSW	3	86,622,872 (GRCm39)	missense	probably damaging	1.00
R7995:Lrba	UTSW	3	86,526,858 (GRCm39)	missense	probably damaging	1.00
R8013:Lrba	UTSW	3	86,325,278 (GRCm39)	missense	probably damaging	1.00
R8014:Lrba	UTSW	3	86,325,278 (GRCm39)	missense	probably damaging	1.00
R8024:Lrba	UTSW	3	86,202,708 (GRCm39)	nonsense	probably null
R8027:Lrba	UTSW	3	86,325,219 (GRCm39)	missense	probably benign	0.05
R8090:Lrba	UTSW	3	86,255,796 (GRCm39)	missense	probably benign
R8111:Lrba	UTSW	3	86,235,012 (GRCm39)	missense	probably damaging	1.00
R8118:Lrba	UTSW	3	86,261,533 (GRCm39)	missense	probably benign
R8204:Lrba	UTSW	3	86,222,710 (GRCm39)	missense	possibly damaging	0.95
R8239:Lrba	UTSW	3	86,449,882 (GRCm39)	missense	probably damaging	1.00
R8509:Lrba	UTSW	3	86,255,483 (GRCm39)	missense	probably benign	0.04
R8532:Lrba	UTSW	3	86,664,790 (GRCm39)	missense	probably damaging	1.00
R8726:Lrba	UTSW	3	86,261,062 (GRCm39)	missense	probably benign
R8744:Lrba	UTSW	3	86,211,640 (GRCm39)	missense	probably benign	0.08
R8782:Lrba	UTSW	3	86,549,976 (GRCm39)	missense	probably benign	0.00
R8784:Lrba	UTSW	3	86,283,235 (GRCm39)	missense	probably damaging	1.00
R8922:Lrba	UTSW	3	86,263,973 (GRCm39)	missense	probably damaging	1.00
R8964:Lrba	UTSW	3	86,258,552 (GRCm39)	missense	probably benign	0.22
R8971:Lrba	UTSW	3	86,522,388 (GRCm39)	missense	probably benign	0.00
R9046:Lrba	UTSW	3	86,302,543 (GRCm39)	missense	possibly damaging	0.94
R9155:Lrba	UTSW	3	86,202,508 (GRCm39)	missense	probably damaging	1.00
R9236:Lrba	UTSW	3	86,261,066 (GRCm39)	missense	probably benign	0.05
R9266:Lrba	UTSW	3	86,198,774 (GRCm39)	missense	probably benign	0.08
R9297:Lrba	UTSW	3	86,280,873 (GRCm39)	missense	probably damaging	1.00
R9404:Lrba	UTSW	3	86,205,224 (GRCm39)	missense	probably damaging	0.99
R9617:Lrba	UTSW	3	86,267,169 (GRCm39)	missense	probably benign
R9640:Lrba	UTSW	3	86,526,875 (GRCm39)	nonsense	probably null
R9779:Lrba	UTSW	3	86,233,078 (GRCm39)	missense	probably damaging	1.00
X0065:Lrba	UTSW	3	86,232,396 (GRCm39)	missense	possibly damaging	0.95
X0065:Lrba	UTSW	3	86,205,206 (GRCm39)	missense	probably damaging	1.00
Z1176:Lrba	UTSW	3	86,658,839 (GRCm39)	missense	possibly damaging	0.85
Z1176:Lrba	UTSW	3	86,622,845 (GRCm39)	missense	probably benign	0.31
Z1177:Lrba	UTSW	3	86,447,356 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GCATGTTTCCCCAAGTTTTACAAGATG -3'
(R):5'- TGGACCCAAGCCATAGTTATC -3'

Sequencing Primer
(F):5'- CCCCAAGTTTTACAAGATGTTTTTAG -3'
(R):5'- AGCTCTTGTGTGTTATTTCC -3'

Posted On

2014-11-12