Mutagenetix > Incidental Mutations

Incidental Mutation 'R3713:Lmbrd1'

259708

Institutional Source

Beutler Lab

Gene Symbol

Lmbrd1

Ensembl Gene

ENSMUSG00000073725

Gene Name

LMBR1 domain containing 1

Synonyms

0910001K20Rik

MMRRC Submission

040706-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3713 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

24678630-24766301 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24692995 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 98 (Y98H)

Ref Sequence

ENSEMBL: ENSMUSP00000140783 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000095062
AA Change: Y28H

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

SMART Domains

Protein: ENSMUSP00000092672
Gene: ENSMUSG00000073725
AA Change: Y28H

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 damaging
Transcript: ENSMUST00000186096
AA Change: Y98H

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

SMART Domains

Protein: ENSMUSP00000140911
Gene: ENSMUSG00000073725
AA Change: Y98H

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 damaging
Transcript: ENSMUST00000191471
AA Change: Y98H

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

SMART Domains

Protein: ENSMUSP00000140783
Gene: ENSMUSG00000073725
AA Change: Y98H

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

Meta Mutation Damage Score

0.6454

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (67/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,627,193	M137V	probably benign	Het
Aak1	T	A	6: 86,955,190	I381N	probably benign	Het
Abcd4	C	T	12: 84,611,759	M223I	probably benign	Het
Adgrf2	A	G	17: 42,713,088	V164A	probably damaging	Het
Ahdc1	G	A	4: 133,065,986	A1513T	possibly damaging	Het
Akap13	T	C	7: 75,586,181	M168T	probably damaging	Het
Aox1	C	T	1: 58,056,215	T196I	probably benign	Het
Aqr	A	G	2: 114,118,669		probably benign	Het
Astn1	A	G	1: 158,667,532	E1042G	possibly damaging	Het
Azi2	A	G	9: 118,047,440	D8G	possibly damaging	Het
Bcam	T	C	7: 19,764,193	T302A	probably benign	Het
Cct6b	A	T	11: 82,760,357	I110N	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Ceacam5	G	A	7: 17,759,338	S762N	possibly damaging	Het
Cecr2	T	C	6: 120,758,260	L819P	probably damaging	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Chd2	A	G	7: 73,471,790		probably benign	Het
Col7a1	G	T	9: 108,964,440	G1357*	probably null	Het
Cux1	A	G	5: 136,565,543		probably benign	Het
Cwh43	A	T	5: 73,438,492	I535F	probably damaging	Het
Dexi	A	T	16: 10,542,689	M1K	probably null	Het
Dnah12	T	C	14: 26,812,790	V2081A	probably benign	Het
Efcab5	A	T	11: 77,116,182	L872Q	probably damaging	Het
Enpp7	A	G	11: 118,990,518	Y163C	probably damaging	Het
Fam221a	T	C	6: 49,372,614	Y38H	probably damaging	Het
Foxred1	A	G	9: 35,210,890	M1T	probably null	Het
Fscn3	C	T	6: 28,428,092	T26I	possibly damaging	Het
Galp	A	T	7: 6,213,837	D72V	probably damaging	Het
Gm9843	A	G	16: 76,403,531		noncoding transcript	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
Lrrc63	T	G	14: 75,107,336	Y437S	probably benign	Het
Macc1	A	G	12: 119,446,841	E448G	probably benign	Het
Madcam1	A	G	10: 79,668,360	H404R	probably benign	Het
Mink1	G	T	11: 70,608,950	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,943,649	I1045V	probably benign	Het
Mroh3	T	C	1: 136,185,976	T692A	probably benign	Het
Myo15	A	T	11: 60,479,231	E939V	possibly damaging	Het
Naip2	A	G	13: 100,161,902	F542S	probably damaging	Het
Napsa	A	G	7: 44,581,428	Y73C	probably damaging	Het
Ndst4	A	T	3: 125,561,505	H354L	possibly damaging	Het
Neil1	A	T	9: 57,146,970	V22E	probably damaging	Het
Nol4	T	C	18: 23,039,937	I36V	probably damaging	Het
Nprl3	G	A	11: 32,255,464	T111I	probably damaging	Het
Olfr1184	C	A	2: 88,487,443	T237N	probably damaging	Het
Olfr361	A	G	2: 37,085,505	M81T	possibly damaging	Het
Olfr385	A	T	11: 73,588,905	Y278N	probably damaging	Het
Pald1	G	A	10: 61,342,365	T624I	possibly damaging	Het
Pcdhb13	C	T	18: 37,443,733	P388L	probably damaging	Het
Pcdhga6	T	C	18: 37,707,923	V232A	probably damaging	Het
Pde6b	A	G	5: 108,423,062	I388V	probably damaging	Het
Phactr2	C	A	10: 13,388,732		probably benign	Het
Prdx5	T	C	19: 6,908,109	D56G	probably damaging	Het
Ptprh	A	T	7: 4,571,970	I350N	probably damaging	Het
Rangap1	C	A	15: 81,710,460	E389D	probably benign	Het
Reln	A	G	5: 21,904,734	V3126A	probably damaging	Het
Rpl21	G	A	5: 146,835,037	G59S	possibly damaging	Het
Rsph6a	G	A	7: 19,057,550	V215M	probably damaging	Het
Smcp	T	C	3: 92,584,124	K139E	unknown	Het
Stag1	A	G	9: 100,889,618	T699A	probably benign	Het
Tarsl2	G	A	7: 65,688,952		probably null	Het
Tle1	G	T	4: 72,126,422	H459Q	possibly damaging	Het
Ttn	G	A	2: 76,731,019	P27302S	probably damaging	Het
Ttn	C	T	2: 76,741,266	V26428I	probably damaging	Het
Usp53	T	C	3: 122,949,319	E656G	probably benign	Het
Vmn1r218	A	T	13: 23,136,911	N63Y	probably damaging	Het
Vmn1r79	A	G	7: 12,176,212	N40S	possibly damaging	Het
Wdr35	A	G	12: 9,027,648	D1107G	possibly damaging	Het
Zfp101	A	G	17: 33,381,906	M292T	probably benign	Het
Zfp108	T	A	7: 24,261,845	C620*	probably null	Het
Zscan4b	T	C	7: 10,901,891	T170A	probably benign	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
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
R6188:Lmbrd1	UTSW	1	24711545	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- TTTCATCTACTAACAGGCTTCAGAG -3'
(R):5'- TGGGAACGCGCTGACTTAAC -3'

Sequencing Primer
(F):5'- CAGGCTTCAGAGATGAAATTCAGTC -3'
(R):5'- CCCCTCAAGAAGTGTTACATGTG -3'

Posted On

2015-01-23