Mutagenetix > Incidental Mutation

Incidental Mutation 'R1636:Lmbrd1'

173135

Institutional Source

Beutler Lab

Gene Symbol

Lmbrd1

Ensembl Gene

ENSMUSG00000073725

Gene Name

LMBR1 domain containing 1

Synonyms

0910001K20Rik

MMRRC Submission

039672-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1636 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24717711-24805382 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 24786011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 435 (Y435*)

Ref Sequence

ENSEMBL: ENSMUSP00000140783 (fasta)

Gene Model

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

AlphaFold

Q8K0B2

Predicted Effect

probably null
Transcript: ENSMUST00000095062
AA Change: Y365*

SMART Domains

Protein: ENSMUSP00000092672
Gene: ENSMUSG00000073725
AA Change: Y365*

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

noncoding transcript
Transcript: ENSMUST00000187468

Predicted Effect

probably null
Transcript: ENSMUST00000190195
AA Change: Y74*

Predicted Effect

probably null
Transcript: ENSMUST00000191471
AA Change: Y435*

SMART Domains

Protein: ENSMUSP00000140783
Gene: ENSMUSG00000073725
AA Change: Y435*

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

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.4%
20x: 86.1%

Validation Efficiency

96% (85/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Abca7	A	G	10: 79,844,832 (GRCm39)	H1518R	probably benign	Het
Adam4	A	G	12: 81,466,464 (GRCm39)	L719S	probably damaging	Het
Adprm	T	C	11: 66,932,549 (GRCm39)	Y120C	possibly damaging	Het
Arhgap25	T	A	6: 87,472,923 (GRCm39)	Y78F	probably damaging	Het
Asap1	G	A	15: 63,995,761 (GRCm39)	P665L	probably damaging	Het
Bank1	T	C	3: 135,788,987 (GRCm39)	K637R	probably damaging	Het
Bcr	T	A	10: 74,966,898 (GRCm39)	L502M	probably damaging	Het
Brwd1	A	G	16: 95,860,841 (GRCm39)	L315P	probably damaging	Het
Btbd7	A	T	12: 102,760,110 (GRCm39)	Y613N	probably damaging	Het
Cdca7l	G	A	12: 117,840,663 (GRCm39)	R395H	probably damaging	Het
Cftr	T	A	6: 18,226,156 (GRCm39)	I368K	probably damaging	Het
D6Wsu163e	T	C	6: 126,923,564 (GRCm39)	V150A	possibly damaging	Het
Ddx52	A	G	11: 83,846,169 (GRCm39)	T470A	probably damaging	Het
Def6	A	G	17: 28,442,892 (GRCm39)	E316G	possibly damaging	Het
Dip2a	A	T	10: 76,157,412 (GRCm39)	N64K	probably benign	Het
Dlgap4	G	T	2: 156,587,997 (GRCm39)	E631*	probably null	Het
Dner	T	C	1: 84,563,051 (GRCm39)	K190E	possibly damaging	Het
Eif2b4	T	A	5: 31,349,610 (GRCm39)		probably null	Het
Eif3a	A	T	19: 60,770,343 (GRCm39)	D119E	possibly damaging	Het
Ercc2	C	T	7: 19,121,049 (GRCm39)	T276M	possibly damaging	Het
Exoc1	A	G	5: 76,715,965 (GRCm39)	K830R	probably benign	Het
F2r	G	T	13: 95,740,400 (GRCm39)	Y378*	probably null	Het
Fam186a	G	A	15: 99,839,539 (GRCm39)	T2235I	unknown	Het
Fmo3	T	G	1: 162,781,994 (GRCm39)	K453T	probably benign	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Galns	A	G	8: 123,330,955 (GRCm39)		probably benign	Het
Gm1818	T	C	12: 48,602,550 (GRCm39)		noncoding transcript	Het
Gm9955	C	A	18: 24,842,287 (GRCm39)		probably benign	Het
Immp2l	T	C	12: 41,750,470 (GRCm39)	V113A	probably damaging	Het
Iyd	T	A	10: 3,495,588 (GRCm39)	M82K	possibly damaging	Het
Kif21a	A	T	15: 90,869,008 (GRCm39)		probably benign	Het
Lipf	A	G	19: 33,953,935 (GRCm39)	D342G	probably damaging	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Mtrf1l	A	G	10: 5,763,265 (GRCm39)	S355P	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Neo1	T	C	9: 58,820,560 (GRCm39)	S788G	probably damaging	Het
Nfx1	T	G	4: 41,016,072 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,069,737 (GRCm39)	V546A	possibly damaging	Het
Nwd2	G	A	5: 63,964,900 (GRCm39)	V1495M	probably damaging	Het
Oaf	T	A	9: 43,150,621 (GRCm39)	I84F	probably benign	Het
Obscn	A	G	11: 59,013,463 (GRCm39)	F1153S	probably damaging	Het
Ofcc1	A	T	13: 40,333,904 (GRCm39)	C396S	possibly damaging	Het
Omg	A	G	11: 79,393,166 (GRCm39)	S231P	probably benign	Het
Or51a7	T	G	7: 102,614,898 (GRCm39)	I197S	possibly damaging	Het
Or8g35	T	C	9: 39,381,215 (GRCm39)	D269G	probably benign	Het
Pdcl3	A	G	1: 39,034,016 (GRCm39)	T53A	possibly damaging	Het
Pik3r2	A	T	8: 71,224,542 (GRCm39)	H244Q	probably benign	Het
Pinx1	A	T	14: 64,103,586 (GRCm39)	H55L	probably damaging	Het
Pwwp2b	T	A	7: 138,834,758 (GRCm39)	H66Q	probably benign	Het
Rell2	A	G	18: 38,091,132 (GRCm39)	D99G	probably damaging	Het
Reln	G	A	5: 22,203,681 (GRCm39)	A1191V	probably damaging	Het
Rprm	T	C	2: 53,975,316 (GRCm39)	M1V	probably null	Het
Sav1	A	C	12: 70,031,269 (GRCm39)	H84Q	probably benign	Het
Scamp5	T	C	9: 57,358,692 (GRCm39)	D28G	possibly damaging	Het
Selenbp2	G	A	3: 94,604,122 (GRCm39)	G9D	probably damaging	Het
Sh3tc2	T	C	18: 62,122,792 (GRCm39)	W518R	probably damaging	Het
Slc10a6	A	T	5: 103,777,012 (GRCm39)	N29K	probably benign	Het
Spindoc	C	A	19: 7,351,922 (GRCm39)	D142Y	probably damaging	Het
Spink12	T	A	18: 44,240,795 (GRCm39)	D60E	probably benign	Het
Sugt1	A	G	14: 79,825,422 (GRCm39)	I23V	probably benign	Het
Syne2	T	C	12: 76,051,506 (GRCm39)	C4079R	probably benign	Het
Tex15	T	G	8: 34,066,415 (GRCm39)	Y1948*	probably null	Het
Thoc2l	T	A	5: 104,668,616 (GRCm39)	M1046K	probably damaging	Het
Tln2	T	C	9: 67,213,814 (GRCm39)	E321G	probably damaging	Het
Tmem198b	A	G	10: 128,638,065 (GRCm39)	L166P	probably damaging	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Ttn	T	A	2: 76,730,566 (GRCm39)		probably benign	Het
Unc13a	G	A	8: 72,106,034 (GRCm39)	T690I	probably damaging	Het
Ush2a	T	C	1: 188,198,373 (GRCm39)	I1479T	possibly damaging	Het
Vcan	G	A	13: 89,851,786 (GRCm39)	T1058I	possibly damaging	Het
Vmn1r84	T	C	7: 12,096,522 (GRCm39)	Q45R	probably benign	Het
Vmn2r111	T	C	17: 22,790,380 (GRCm39)	N209D	probably damaging	Het
Wbp1l	A	G	19: 46,632,883 (GRCm39)	Y40C	probably damaging	Het
Wdr72	A	T	9: 74,086,907 (GRCm39)	H625L	probably benign	Het
Zeb2	T	C	2: 44,892,623 (GRCm39)	Y195C	probably damaging	Het
Zkscan6	C	T	11: 65,705,256 (GRCm39)		probably benign	Het
Zmym6	C	A	4: 127,017,560 (GRCm39)	H1022N	probably damaging	Het

Other mutations in Lmbrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Lmbrd1	APN	1	24,745,055 (GRCm39)	splice site	probably benign
IGL01897:Lmbrd1	APN	1	24,782,977 (GRCm39)	missense	possibly damaging	0.47
IGL01950:Lmbrd1	APN	1	24,750,683 (GRCm39)	critical splice donor site	probably null
IGL02342:Lmbrd1	APN	1	24,743,959 (GRCm39)	missense	probably damaging	1.00
IGL02888:Lmbrd1	APN	1	24,754,053 (GRCm39)	missense	possibly damaging	0.94
P0033:Lmbrd1	UTSW	1	24,724,646 (GRCm39)	missense	possibly damaging	0.95
R0479:Lmbrd1	UTSW	1	24,785,878 (GRCm39)	splice site	probably benign
R0549:Lmbrd1	UTSW	1	24,784,001 (GRCm39)	missense	probably benign	0.17
R1015:Lmbrd1	UTSW	1	24,770,959 (GRCm39)	nonsense	probably null
R1423:Lmbrd1	UTSW	1	24,785,959 (GRCm39)	missense	probably damaging	0.99
R1650:Lmbrd1	UTSW	1	24,750,639 (GRCm39)	missense	probably damaging	0.97
R1815:Lmbrd1	UTSW	1	24,724,642 (GRCm39)	missense	possibly damaging	0.55
R2354:Lmbrd1	UTSW	1	24,724,622 (GRCm39)	missense	probably damaging	1.00
R3690:Lmbrd1	UTSW	1	24,801,374 (GRCm39)	makesense	probably null
R3713:Lmbrd1	UTSW	1	24,732,076 (GRCm39)	missense	probably damaging	1.00
R4241:Lmbrd1	UTSW	1	24,732,049 (GRCm39)	nonsense	probably null
R4627:Lmbrd1	UTSW	1	24,745,080 (GRCm39)	missense	probably damaging	1.00
R4782:Lmbrd1	UTSW	1	24,784,056 (GRCm39)	splice site	probably null
R4799:Lmbrd1	UTSW	1	24,784,056 (GRCm39)	splice site	probably null
R5341:Lmbrd1	UTSW	1	24,785,892 (GRCm39)	nonsense	probably null
R5430:Lmbrd1	UTSW	1	24,732,061 (GRCm39)	missense	possibly damaging	0.95
R5483:Lmbrd1	UTSW	1	24,783,989 (GRCm39)	missense	probably damaging	1.00
R5633:Lmbrd1	UTSW	1	24,787,943 (GRCm39)	missense	possibly damaging	0.90
R6188:Lmbrd1	UTSW	1	24,750,626 (GRCm39)	missense	probably benign
R6383:Lmbrd1	UTSW	1	24,745,115 (GRCm39)	missense	probably damaging	0.99
R6617:Lmbrd1	UTSW	1	24,724,509 (GRCm39)	missense	probably damaging	1.00
R7060:Lmbrd1	UTSW	1	24,732,047 (GRCm39)	missense	probably benign	0.00
R7365:Lmbrd1	UTSW	1	24,783,948 (GRCm39)	missense	possibly damaging	0.62
R7621:Lmbrd1	UTSW	1	24,767,625 (GRCm39)	critical splice acceptor site	probably null
R8807:Lmbrd1	UTSW	1	24,770,843 (GRCm39)	missense	probably benign	0.16
R8871:Lmbrd1	UTSW	1	24,783,435 (GRCm39)	missense	probably damaging	1.00
R8944:Lmbrd1	UTSW	1	24,767,407 (GRCm39)	intron	probably benign
R8954:Lmbrd1	UTSW	1	24,745,121 (GRCm39)	missense	possibly damaging	0.49
R9345:Lmbrd1	UTSW	1	24,724,593 (GRCm39)	missense	probably damaging	1.00
R9665:Lmbrd1	UTSW	1	24,732,065 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCACAGAAGGACTGGACGTTTC -3'
(R):5'- GTTCCTCTCACCAAGTTACAGCAGG -3'

Sequencing Primer
(F):5'- GACTGGACGTTTCAAAATAATGTTGG -3'
(R):5'- GAACACTTAGCTTAGTGTCATAGG -3'

Posted On

2014-04-24