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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6188 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24717711-24805382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24750626 bp (GRCm39)

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: 77,331,850 (GRCm39)	I88F	possibly damaging	Het
4930407I10Rik	T	C	15: 81,943,471 (GRCm39)	S28P	probably benign	Het
a	A	T	2: 154,889,602 (GRCm39)	N56I	probably damaging	Het
Apoe	C	A	7: 19,432,305 (GRCm39)		probably benign	Het
Aspm	C	A	1: 139,406,977 (GRCm39)	R1955S	possibly damaging	Het
Boc	G	A	16: 44,319,911 (GRCm39)	L358F	possibly damaging	Het
Cadm2	A	T	16: 66,612,195 (GRCm39)		probably null	Het
Ccdc183	T	C	2: 25,499,764 (GRCm39)	E384G	probably benign	Het
Ccl12	A	G	11: 81,993,943 (GRCm39)	T67A	probably damaging	Het
Cep120	T	C	18: 53,857,529 (GRCm39)	D312G	probably benign	Het
Cmya5	A	G	13: 93,229,952 (GRCm39)	V1712A	possibly damaging	Het
Cmya5	A	G	13: 93,233,784 (GRCm39)	S435P	possibly damaging	Het
Dmbt1	A	T	7: 130,699,361 (GRCm39)	N997Y	probably damaging	Het
Dock2	T	A	11: 34,453,396 (GRCm39)	I86F	probably damaging	Het
Duox1	A	G	2: 122,150,275 (GRCm39)	Q168R	probably benign	Het
Epb41l4a	T	A	18: 33,965,718 (GRCm39)	I370L	probably benign	Het
Erc2	T	A	14: 28,039,208 (GRCm39)	D950E	probably damaging	Het
Exoc6b	A	G	6: 84,832,479 (GRCm39)	V405A	probably damaging	Het
F13a1	T	C	13: 37,209,752 (GRCm39)	D71G	probably benign	Het
Fam151a	A	T	4: 106,602,696 (GRCm39)	Y205F	possibly damaging	Het
Fcnb	C	A	2: 27,969,202 (GRCm39)	R165M	possibly damaging	Het
Fndc3a	C	T	14: 72,827,401 (GRCm39)	V50I	probably damaging	Het
Gm13276	C	T	4: 88,704,096 (GRCm39)	Q51*	probably null	Het
Grik1	T	C	16: 87,852,959 (GRCm39)	T75A	probably benign	Het
Grip2	A	G	6: 91,740,514 (GRCm39)	L1015P	probably damaging	Het
Hnrnpk	A	G	13: 58,541,967 (GRCm39)	F339L	probably benign	Het
Iqgap3	A	G	3: 88,006,200 (GRCm39)	D537G	probably benign	Het
Kars1	C	T	8: 112,735,113 (GRCm39)		probably null	Het
Kpna7	G	T	5: 144,929,654 (GRCm39)	N390K	probably damaging	Het
Krt36	A	T	11: 99,993,246 (GRCm39)	S410T	probably benign	Het
Lingo4	A	G	3: 94,310,157 (GRCm39)	E365G	probably damaging	Het
Liph	T	C	16: 21,803,018 (GRCm39)	D17G	probably benign	Het
Lypd9	T	C	11: 58,337,182 (GRCm39)	E97G	probably benign	Het
Nup155	T	C	15: 8,139,059 (GRCm39)	S44P	probably damaging	Het
Or2m12	A	G	16: 19,105,307 (GRCm39)	M62T	probably damaging	Het
Or4a72	A	T	2: 89,405,538 (GRCm39)	C177*	probably null	Het
Or5a3	A	G	19: 12,399,974 (GRCm39)	I100M	probably benign	Het
Pcdhga6	T	C	18: 37,841,324 (GRCm39)	V348A	probably benign	Het
Phc3	G	A	3: 30,991,198 (GRCm39)	Q295*	probably null	Het
Phyh	A	G	2: 4,932,301 (GRCm39)	E129G	probably damaging	Het
Polb	A	G	8: 23,137,463 (GRCm39)	S96P	probably damaging	Het
Ppp1r9a	A	T	6: 5,158,113 (GRCm39)	K1174*	probably null	Het
Ppp1r9b	C	T	11: 94,882,662 (GRCm39)	R97W	probably damaging	Het
Pttg1ip	T	C	10: 77,418,342 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,447,967 (GRCm39)		probably null	Het
Rgs20	GGAGAGAG	GGAGAG	1: 5,091,106 (GRCm39)		probably null	Het
Rlf	T	C	4: 121,027,963 (GRCm39)	H111R	probably damaging	Het
Rmdn3	A	G	2: 118,969,831 (GRCm39)		probably null	Het
Ror2	T	A	13: 53,265,347 (GRCm39)	T570S	probably damaging	Het
Sel1l3	A	C	5: 53,313,061 (GRCm39)	I542R	possibly damaging	Het
Serpinb3d	A	G	1: 107,006,237 (GRCm39)	F284L	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc38a2	A	G	15: 96,590,397 (GRCm39)		probably null	Het
Spata31e2	T	A	1: 26,724,784 (GRCm39)	Y132F	probably damaging	Het
Spata31h1	A	G	10: 82,121,091 (GRCm39)	I3973T	probably damaging	Het
Tet2	T	C	3: 133,186,087 (GRCm39)	S1117G	probably benign	Het
Trav15-1-dv6-1	C	T	14: 53,797,414 (GRCm39)	A21V	probably damaging	Het
Tsr3	G	T	17: 25,460,835 (GRCm39)	D234Y	probably null	Het
Vmn1r220	A	T	13: 23,368,084 (GRCm39)	L204H	probably damaging	Het
Vmn1r3	A	T	4: 3,185,017 (GRCm39)	S97T	probably damaging	Het
Zfp599	A	G	9: 22,161,286 (GRCm39)	F293S	probably damaging	Het
Zfp983	A	G	17: 21,877,935 (GRCm39)	Y46C	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
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'- GGCAATAAAGTAAGTCCGTCAG -3'
(R):5'- GTGTAAACCTCCTCACCGAAG -3'

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

Posted On

2018-02-27