Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02264:Lrba'

286852

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 #

IGL02264

Quality Score

Status

Chromosome

Chromosomal Location

86131987-86689999 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86687569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 2825 (R2825G)

Ref Sequence

ENSEMBL: ENSMUSP00000103261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107635] [ENSMUST00000194759] [ENSMUST00000195524]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000107635
AA Change: R2825G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103261
Gene: ENSMUSG00000028080
AA Change: R2825G

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

noncoding transcript
Transcript: ENSMUST00000194490

Predicted Effect

probably benign
Transcript: ENSMUST00000194759

SMART Domains

Protein: ENSMUSP00000142043
Gene: ENSMUSG00000028080

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: ENSMUST00000195524
AA Change: R729G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141734
Gene: ENSMUSG00000028080
AA Change: R729G

Domain	Start	End	E-Value	Type
Pfam:PH_BEACH	3	76	3.6e-20	PFAM
Beach	107	384	2.87e-207	SMART
WD40	482	519	7.4e0	SMART
WD40	522	565	1.72e0	SMART
WD40	581	620	3.99e-1	SMART
WD40	664	702	1.79e-1	SMART
WD40	705	744	4.28e0	SMART

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,547,180 (GRCm39)		probably null	Het
Abhd17b	T	C	19: 21,655,796 (GRCm39)	L26P	probably damaging	Het
Abtb1	A	G	6: 88,813,517 (GRCm39)	V407A	probably benign	Het
Adamts17	C	A	7: 66,697,207 (GRCm39)		probably null	Het
Arhgap21	G	T	2: 20,864,850 (GRCm39)		probably null	Het
Brwd1	T	C	16: 95,820,656 (GRCm39)	D1290G	probably damaging	Het
Btbd6	A	G	12: 112,940,589 (GRCm39)	T49A	probably damaging	Het
Carmil1	C	T	13: 24,259,699 (GRCm39)	V702I	possibly damaging	Het
Cts8	T	A	13: 61,398,772 (GRCm39)	I245F	probably damaging	Het
Dclre1a	T	A	19: 56,532,725 (GRCm39)	N623I	possibly damaging	Het
Dnah9	A	T	11: 65,971,314 (GRCm39)		probably benign	Het
Emc1	T	C	4: 139,102,775 (GRCm39)	F978S	probably damaging	Het
Fam185a	G	A	5: 21,685,392 (GRCm39)	V363I	possibly damaging	Het
Iglc2	G	T	16: 19,017,397 (GRCm39)	S69R	probably damaging	Het
Ints5	T	C	19: 8,873,076 (GRCm39)	V345A	probably benign	Het
Kif21b	T	A	1: 136,087,495 (GRCm39)	L937Q	probably damaging	Het
Map1a	A	G	2: 121,137,794 (GRCm39)	E2870G	probably damaging	Het
Or4c125	G	T	2: 89,170,028 (GRCm39)	T206K	probably benign	Het
Or4k41	A	G	2: 111,280,207 (GRCm39)	T241A	probably benign	Het
Or5aq7	C	T	2: 86,937,785 (GRCm39)		probably benign	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Pcsk1	C	A	13: 75,254,078 (GRCm39)	T210K	probably damaging	Het
Phaf1	C	T	8: 105,961,178 (GRCm39)	A71V	possibly damaging	Het
Slco5a1	A	G	1: 12,942,219 (GRCm39)	V809A	probably benign	Het
Synm	T	C	7: 67,384,144 (GRCm39)	T1173A	probably damaging	Het
Tbc1d9b	T	C	11: 50,040,584 (GRCm39)	I367T	probably damaging	Het
Tmem169	T	A	1: 72,340,114 (GRCm39)	Y181*	probably null	Het
Trp73	G	T	4: 154,148,885 (GRCm39)	F289L	probably null	Het
Ttll9	A	G	2: 152,842,055 (GRCm39)	Y303C	probably damaging	Het
Ubr4	G	T	4: 139,182,939 (GRCm39)	E3577*	probably null	Het
Zbtb3	T	G	19: 8,780,729 (GRCm39)	V114G	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
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
R2412:Lrba	UTSW	3	86,235,007 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16