Mutagenetix > Incidental Mutation

Incidental Mutation 'R8944:Lmbrd1'

700885

Institutional Source

Beutler Lab

Gene Symbol

Lmbrd1

Ensembl Gene

ENSMUSG00000073725

Gene Name

LMBR1 domain containing 1

Synonyms

0910001K20Rik

MMRRC Submission

068783-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8944 (G1)

Quality Score

96.0077

Status

Validated

Chromosome

Chromosomal Location

24717711-24805382 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 24767407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140783 (fasta)

Gene Model

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

AlphaFold

Q8K0B2

Predicted Effect

probably benign
Transcript: ENSMUST00000095062

SMART Domains

Protein: ENSMUSP00000092672
Gene: ENSMUSG00000073725

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: 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

SMART Domains

Protein: ENSMUSP00000140783
Gene: ENSMUSG00000073725

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (88/88)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,049,851 (GRCm39)		probably benign	Het
A830018L16Rik	A	T	1: 11,484,706 (GRCm39)		probably benign	Het
Acox1	C	T	11: 116,066,040 (GRCm39)	R454H	probably damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam18	A	G	8: 25,164,703 (GRCm39)	L4P	probably damaging	Het
AI182371	A	C	2: 34,990,622 (GRCm39)	L25R	probably damaging	Het
Ankrd12	A	C	17: 66,277,195 (GRCm39)	Y2026*	probably null	Het
Atad5	C	T	11: 79,986,524 (GRCm39)	T537M	possibly damaging	Het
Atosa	A	G	9: 74,911,562 (GRCm39)	Y11C	probably damaging	Het
Avil	G	T	10: 126,846,455 (GRCm39)	G420V	probably damaging	Het
Bche	A	T	3: 73,608,008 (GRCm39)	F473I	probably damaging	Het
Borcs5	T	C	6: 134,621,437 (GRCm39)		probably null	Het
C4b	T	C	17: 34,961,913 (GRCm39)	Q111R	probably benign	Het
Carmil2	T	A	8: 106,417,437 (GRCm39)	I565N	probably damaging	Het
Cd74	T	C	18: 60,943,127 (GRCm39)	M155T	probably damaging	Het
Chrnd	G	T	1: 87,119,997 (GRCm39)	R105L	probably damaging	Het
Clpp	G	T	17: 57,300,553 (GRCm39)	E217*	probably null	Het
Cpq	T	A	15: 33,594,269 (GRCm39)	Y427N	probably damaging	Het
Crxos	G	A	7: 15,636,900 (GRCm39)	E54K	possibly damaging	Het
Dcaf13	A	G	15: 39,001,612 (GRCm39)	R307G	possibly damaging	Het
Ddx55	A	G	5: 124,706,788 (GRCm39)	D595G	probably damaging	Het
Dld	T	A	12: 31,390,868 (GRCm39)	I193F	possibly damaging	Het
Dnah11	T	G	12: 118,091,381 (GRCm39)	E917A	possibly damaging	Het
Dnai2	T	A	11: 114,641,302 (GRCm39)	Y376N	possibly damaging	Het
Dock7	A	G	4: 98,829,243 (GRCm39)	Y2078H	probably damaging	Het
Dusp4	A	T	8: 35,274,941 (GRCm39)	N20I	probably benign	Het
Dzank1	A	G	2: 144,333,729 (GRCm39)	L367P	probably benign	Het
Eea1	T	A	10: 95,832,822 (GRCm39)	D222E	probably damaging	Het
Erich3	G	C	3: 154,462,692 (GRCm39)	R742S		Het
Erich6	C	T	3: 58,537,275 (GRCm39)	M246I	probably benign	Het
Galnt16	T	G	12: 80,623,314 (GRCm39)	I158S	probably damaging	Het
Gm28363	A	G	1: 117,655,080 (GRCm39)	T100A	possibly damaging	Het
Gm8257	A	T	14: 44,893,849 (GRCm39)	Y36N	probably damaging	Het
Gmpr2	T	C	14: 55,913,149 (GRCm39)	V142A	possibly damaging	Het
Grid2ip	T	C	5: 143,366,260 (GRCm39)		probably null	Het
Hamp2	A	G	7: 30,622,001 (GRCm39)	F63L	possibly damaging	Het
Hmga2	T	C	10: 120,309,159 (GRCm39)	K66E	probably damaging	Het
Hspa1a	T	C	17: 35,190,019 (GRCm39)	T295A	probably benign	Het
Ift74	G	A	4: 94,510,128 (GRCm39)	G53D	probably damaging	Het
Ighv6-7	T	C	12: 114,419,703 (GRCm39)	M1V	probably null	Het
Ints4	T	A	7: 97,183,593 (GRCm39)	D769E	probably benign	Het
Kif7	G	A	7: 79,360,005 (GRCm39)	R411C	probably damaging	Het
Klhl30	T	A	1: 91,287,174 (GRCm39)	Y487N	probably damaging	Het
Kras	T	C	6: 145,170,853 (GRCm39)	E174G	probably benign	Het
Krt84	T	C	15: 101,437,183 (GRCm39)	I327V	probably benign	Het
Lamb3	T	A	1: 193,014,525 (GRCm39)	C561*	probably null	Het
Lmnb1	T	A	18: 56,876,331 (GRCm39)	S480T	probably benign	Het
Lrp2	C	T	2: 69,341,348 (GRCm39)	G944D	probably damaging	Het
Mta3	G	A	17: 84,083,146 (GRCm39)	E280K	probably damaging	Het
Muc5b	A	T	7: 141,421,115 (GRCm39)	I4236F		Het
Myh9	T	C	15: 77,655,432 (GRCm39)	T1175A	probably benign	Het
Myt1l	T	A	12: 29,861,564 (GRCm39)	D115E	unknown	Het
Naa25	A	G	5: 121,552,573 (GRCm39)	N167D	probably benign	Het
Ncam1	G	A	9: 49,431,493 (GRCm39)	P648L	probably damaging	Het
Or2t26	T	C	11: 49,039,266 (GRCm39)	Y61H	probably damaging	Het
Or2t44	A	T	11: 58,677,519 (GRCm39)	D153V	probably damaging	Het
P3h3	G	T	6: 124,832,196 (GRCm39)	A230E	possibly damaging	Het
Pacs2	A	G	12: 113,020,476 (GRCm39)	E253G	probably damaging	Het
Pbld1	A	T	10: 62,901,648 (GRCm39)	D57V	probably benign	Het
Pcsk5	T	C	19: 17,452,275 (GRCm39)	T1077A	probably damaging	Het
Pou4f2	T	A	8: 79,161,932 (GRCm39)	M224L		Het
Ppcdc	C	T	9: 57,342,265 (GRCm39)	R19H	probably benign	Het
Ppp1r10	T	A	17: 36,241,018 (GRCm39)	M640K	probably benign	Het
Prdx6	A	T	1: 161,069,432 (GRCm39)		probably benign	Het
Rab40b	A	G	11: 121,250,384 (GRCm39)		probably null	Het
Rassf9	T	A	10: 102,381,329 (GRCm39)	M237K	probably benign	Het
Rbbp8nl	G	T	2: 179,919,769 (GRCm39)	Y604*	probably null	Het
Reep2	G	T	18: 34,975,929 (GRCm39)	W42L	possibly damaging	Het
Serpinb6e	A	T	13: 34,017,261 (GRCm39)	M253K	probably damaging	Het
Shank2	A	G	7: 143,623,927 (GRCm39)	Q304R	probably damaging	Het
Slk	T	C	19: 47,600,057 (GRCm39)	M120T	probably damaging	Het
Spata31e5	T	C	1: 28,816,155 (GRCm39)	I626V	probably benign	Het
Sphkap	T	A	1: 83,256,927 (GRCm39)	H274L	probably benign	Het
Stc1	T	G	14: 69,269,884 (GRCm39)	F155V	possibly damaging	Het
Tbc1d12	A	G	19: 38,899,510 (GRCm39)	T477A	probably damaging	Het
Tmem19	T	A	10: 115,183,671 (GRCm39)	I54F	possibly damaging	Het
Tmem62	G	A	2: 120,817,316 (GRCm39)		probably null	Het
Ttc6	A	T	12: 57,689,826 (GRCm39)	R505S		Het
Ttn	G	T	2: 76,623,184 (GRCm39)	R15418S	probably damaging	Het
Ugt2a3	C	A	5: 87,473,417 (GRCm39)	C500F	possibly damaging	Het
Ugt2b35	T	C	5: 87,149,310 (GRCm39)	F187S	probably benign	Het
Ung	T	A	5: 114,269,456 (GRCm39)	I56N	probably damaging	Het
Vmn1r17	G	T	6: 57,338,142 (GRCm39)	F25L	probably benign	Het
Vmn1r29	C	A	6: 58,284,274 (GRCm39)		probably benign	Het
Vps26c	T	A	16: 94,302,481 (GRCm39)	I242F	probably benign	Het
Wdhd1	T	C	14: 47,504,470 (GRCm39)	D368G	probably benign	Het
Wdr3	A	T	3: 100,057,259 (GRCm39)	I448N	probably damaging	Het
Wdr47	T	A	3: 108,550,480 (GRCm39)	M835K	possibly damaging	Het
Wt1	G	A	2: 104,957,584 (GRCm39)	G10D	possibly damaging	Het
Zdhhc19	G	A	16: 32,316,500 (GRCm39)	G85D	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
R1636:Lmbrd1	UTSW	1	24,786,011 (GRCm39)	nonsense	probably null
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
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'- CCGAGTTAGACATCAAATATCAGGG -3'
(R):5'- CGTACGCCTGAAACAGATGATG -3'

Sequencing Primer
(F):5'- GTTGCTAGGTTTTGTACTAAC -3'
(R):5'- CGCCTGAAACAGATGATGTGTAAATG -3'

Posted On

2022-02-28