Mutagenetix > Incidental Mutation

Incidental Mutation 'R6188:Lmbrd1'

502288

Institutional Source

Beutler Lab

Gene Symbol

Lmbrd1

Ensembl Gene

ENSMUSG00000073725

Gene Name

LMBR1 domain containing 1

Synonyms

0910001K20Rik

MMRRC Submission

044328-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6188 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24678630-24766301 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24711545 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 166 (N166K)

Ref Sequence

ENSEMBL: ENSMUSP00000140783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095062] [ENSMUST00000186096] [ENSMUST00000186190] [ENSMUST00000191471]

AlphaFold

Q8K0B2

Predicted Effect

probably benign
Transcript: ENSMUST00000095062
AA Change: N96K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092672
Gene: ENSMUSG00000073725
AA Change: N96K

Domain	Start	End	E-Value	Type
Pfam:LMBR1	17	292	3e-24	PFAM
transmembrane domain	303	325	N/A	INTRINSIC
low complexity region	344	356	N/A	INTRINSIC
transmembrane domain	365	387	N/A	INTRINSIC
transmembrane domain	407	429	N/A	INTRINSIC
transmembrane domain	486	508	N/A	INTRINSIC
low complexity region	522	531	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186096

SMART Domains

Protein: ENSMUSP00000140911
Gene: ENSMUSG00000073725

Domain	Start	End	E-Value	Type
Pfam:LMBR1	12	155	2.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186190

SMART Domains

Protein: ENSMUSP00000139893
Gene: ENSMUSG00000073725

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
transmembrane domain	46	68	N/A	INTRINSIC
low complexity region	113	127	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191471
AA Change: N166K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140783
Gene: ENSMUSG00000073725
AA Change: N166K

Domain	Start	End	E-Value	Type
Pfam:LMBR1	12	289	2.7e-19	PFAM
transmembrane domain	303	325	N/A	INTRINSIC
low complexity region	344	356	N/A	INTRINSIC
transmembrane domain	365	387	N/A	INTRINSIC
transmembrane domain	407	429	N/A	INTRINSIC
transmembrane domain	486	508	N/A	INTRINSIC
low complexity region	522	531	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice heterozygous for a targeted allele exhibit increased cardiac cell glucose uptake. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,183,731	I88F	possibly damaging	Het
4930407I10Rik	T	C	15: 82,059,270	S28P	probably benign	Het
4930504O13Rik	T	C	11: 58,446,356	E97G	probably benign	Het
4931408C20Rik	T	A	1: 26,685,703	Y132F	probably damaging	Het
4932415D10Rik	A	G	10: 82,285,257	I3973T	probably damaging	Het
a	A	T	2: 155,047,682	N56I	probably damaging	Het
Apoe	C	A	7: 19,698,380		probably benign	Het
Aspm	C	A	1: 139,479,239	R1955S	possibly damaging	Het
Boc	G	A	16: 44,499,548	L358F	possibly damaging	Het
Cadm2	A	T	16: 66,815,307		probably null	Het
Ccdc183	T	C	2: 25,609,752	E384G	probably benign	Het
Ccl12	A	G	11: 82,103,117	T67A	probably damaging	Het
Cep120	T	C	18: 53,724,457	D312G	probably benign	Het
Cmya5	A	G	13: 93,093,444	V1712A	possibly damaging	Het
Cmya5	A	G	13: 93,097,276	S435P	possibly damaging	Het
Dmbt1	A	T	7: 131,097,631	N997Y	probably damaging	Het
Dock2	T	A	11: 34,503,396	I86F	probably damaging	Het
Duox1	A	G	2: 122,319,794	Q168R	probably benign	Het
Epb41l4a	T	A	18: 33,832,665	I370L	probably benign	Het
Erc2	T	A	14: 28,317,251	D950E	probably damaging	Het
Exoc6b	A	G	6: 84,855,497	V405A	probably damaging	Het
F13a1	T	C	13: 37,025,778	D71G	probably benign	Het
Fam151a	A	T	4: 106,745,499	Y205F	possibly damaging	Het
Fcnb	C	A	2: 28,079,190	R165M	possibly damaging	Het
Fndc3a	C	T	14: 72,589,961	V50I	probably damaging	Het
Gm13276	C	T	4: 88,785,859	Q51*	probably null	Het
Grik1	T	C	16: 88,056,071	T75A	probably benign	Het
Grip2	A	G	6: 91,763,533	L1015P	probably damaging	Het
Hnrnpk	A	G	13: 58,394,153	F339L	probably benign	Het
Iqgap3	A	G	3: 88,098,893	D537G	probably benign	Het
Kars	C	T	8: 112,008,481		probably null	Het
Kpna7	G	T	5: 144,992,844	N390K	probably damaging	Het
Krt36	A	T	11: 100,102,420	S410T	probably benign	Het
Lingo4	A	G	3: 94,402,850	E365G	probably damaging	Het
Liph	T	C	16: 21,984,268	D17G	probably benign	Het
Nup155	T	C	15: 8,109,575	S44P	probably damaging	Het
Olfr1245	A	T	2: 89,575,194	C177*	probably null	Het
Olfr1441	A	G	19: 12,422,610	I100M	probably benign	Het
Olfr164	A	G	16: 19,286,557	M62T	probably damaging	Het
Pcdhga6	T	C	18: 37,708,271	V348A	probably benign	Het
Phc3	G	A	3: 30,937,049	Q295*	probably null	Het
Phyh	A	G	2: 4,927,490	E129G	probably damaging	Het
Polb	A	G	8: 22,647,447	S96P	probably damaging	Het
Ppp1r9a	A	T	6: 5,158,113	K1174*	probably null	Het
Ppp1r9b	C	T	11: 94,991,836	R97W	probably damaging	Het
Pttg1ip	T	C	10: 77,582,508		probably null	Het
Pygm	G	A	19: 6,397,937		probably null	Het
Rgs20	GGAGAGAG	GGAGAG	1: 5,020,883		probably null	Het
Rlf	T	C	4: 121,170,766	H111R	probably damaging	Het
Rmdn3	A	G	2: 119,139,350		probably null	Het
Ror2	T	A	13: 53,111,311	T570S	probably damaging	Het
Sel1l3	A	C	5: 53,155,719	I542R	possibly damaging	Het
Serpinb3d	A	G	1: 107,078,507	F284L	probably damaging	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Slc38a2	A	G	15: 96,692,516		probably null	Het
Tet2	T	C	3: 133,480,326	S1117G	probably benign	Het
Trav15-1-dv6-1	C	T	14: 53,559,957	A21V	probably damaging	Het
Tsr3	G	T	17: 25,241,861	D234Y	probably null	Het
Vmn1r220	A	T	13: 23,183,914	L204H	probably damaging	Het
Vmn1r3	A	T	4: 3,185,017	S97T	probably damaging	Het
Zfp599	A	G	9: 22,249,990	F293S	probably damaging	Het
Zfp983	A	G	17: 21,659,019	Y46C	probably damaging	Het

Other mutations in Lmbrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Lmbrd1	APN	1	24705974	splice site	probably benign
IGL01897:Lmbrd1	APN	1	24743896	missense	possibly damaging	0.47
IGL01950:Lmbrd1	APN	1	24711602	critical splice donor site	probably null
IGL02342:Lmbrd1	APN	1	24704878	missense	probably damaging	1.00
IGL02888:Lmbrd1	APN	1	24714972	missense	possibly damaging	0.94
P0033:Lmbrd1	UTSW	1	24685565	missense	possibly damaging	0.95
R0479:Lmbrd1	UTSW	1	24746797	splice site	probably benign
R0549:Lmbrd1	UTSW	1	24744920	missense	probably benign	0.17
R1015:Lmbrd1	UTSW	1	24731878	nonsense	probably null
R1423:Lmbrd1	UTSW	1	24746878	missense	probably damaging	0.99
R1636:Lmbrd1	UTSW	1	24746930	nonsense	probably null
R1650:Lmbrd1	UTSW	1	24711558	missense	probably damaging	0.97
R1815:Lmbrd1	UTSW	1	24685561	missense	possibly damaging	0.55
R2354:Lmbrd1	UTSW	1	24685541	missense	probably damaging	1.00
R3690:Lmbrd1	UTSW	1	24762293	makesense	probably null
R3713:Lmbrd1	UTSW	1	24692995	missense	probably damaging	1.00
R4241:Lmbrd1	UTSW	1	24692968	nonsense	probably null
R4627:Lmbrd1	UTSW	1	24705999	missense	probably damaging	1.00
R4782:Lmbrd1	UTSW	1	24744975	splice site	probably null
R4799:Lmbrd1	UTSW	1	24744975	splice site	probably null
R5341:Lmbrd1	UTSW	1	24746811	nonsense	probably null
R5430:Lmbrd1	UTSW	1	24692980	missense	possibly damaging	0.95
R5483:Lmbrd1	UTSW	1	24744908	missense	probably damaging	1.00
R5633:Lmbrd1	UTSW	1	24748862	missense	possibly damaging	0.90
R6383:Lmbrd1	UTSW	1	24706034	missense	probably damaging	0.99
R6617:Lmbrd1	UTSW	1	24685428	missense	probably damaging	1.00
R7060:Lmbrd1	UTSW	1	24692966	missense	probably benign	0.00
R7365:Lmbrd1	UTSW	1	24744867	missense	possibly damaging	0.62
R7621:Lmbrd1	UTSW	1	24728544	critical splice acceptor site	probably null
R8807:Lmbrd1	UTSW	1	24731762	missense	probably benign	0.16
R8871:Lmbrd1	UTSW	1	24744354	missense	probably damaging	1.00
R8944:Lmbrd1	UTSW	1	24728326	intron	probably benign
R8954:Lmbrd1	UTSW	1	24706040	missense	possibly damaging	0.49
R9345:Lmbrd1	UTSW	1	24685512	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAATAAAGTAAGTCCGTCAG -3'
(R):5'- GTGTAAACCTCCTCACCGAAG -3'

Sequencing Primer
(F):5'- GGCATGGATTTGGGAGAAT -3'
(R):5'- GTGTAAACCTCCTCACCGAAGTACAG -3'

Posted On

2018-02-27