Mutagenetix > Incidental Mutation

Incidental Mutation 'R8807:Lmbrd1'

672106

Institutional Source

Beutler Lab

Gene Symbol

Lmbrd1

Ensembl Gene

ENSMUSG00000073725

Gene Name

LMBR1 domain containing 1

Synonyms

0910001K20Rik

MMRRC Submission

068643-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24717711-24805382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24770843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 257 (P257S)

Ref Sequence

ENSEMBL: ENSMUSP00000140783 (fasta)

Gene Model

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

AlphaFold

Q8K0B2

Predicted Effect

probably benign
Transcript: ENSMUST00000095062
AA Change: P187S

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000092672
Gene: ENSMUSG00000073725
AA Change: P187S

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
AA Change: P100S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139893
Gene: ENSMUSG00000073725
AA Change: P100S

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: P257S

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140783
Gene: ENSMUSG00000073725
AA Change: P257S

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (74/75)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	C	5: 48,534,494 (GRCm39)	I118T	probably damaging	Het
Abca8a	A	T	11: 109,974,252 (GRCm39)	F227L	probably benign	Het
Abcc6	A	T	7: 45,648,431 (GRCm39)	I687N	possibly damaging	Het
Akain1	T	C	17: 69,794,340 (GRCm39)	*70Q	probably null	Het
Allc	C	T	12: 28,615,489 (GRCm39)	G89S	probably damaging	Het
Aoc1l3	T	C	6: 48,965,188 (GRCm39)	F399L	probably benign	Het
Artn	A	T	4: 117,783,915 (GRCm39)	S184T	possibly damaging	Het
B3galt9	A	T	2: 34,728,818 (GRCm39)	I206F	probably damaging	Het
Bcl2a1c	A	T	9: 114,159,248 (GRCm39)	I9F	probably damaging	Het
Cacna2d1	T	A	5: 16,472,452 (GRCm39)	D286E	probably damaging	Het
Cdc25a	G	A	9: 109,708,303 (GRCm39)	E98K	probably benign	Het
Cdcp3	A	T	7: 130,846,507 (GRCm39)	I644F	probably damaging	Het
Cdr2l	A	T	11: 115,284,741 (GRCm39)	Q359L	probably damaging	Het
Cmip	C	T	8: 118,138,094 (GRCm39)	T103M	probably benign	Het
Dcaf1	A	G	9: 106,742,268 (GRCm39)	T1358A	probably benign	Het
Dedd2	C	T	7: 24,910,705 (GRCm39)	R157Q	probably benign	Het
Dhrs1	A	G	14: 55,982,499 (GRCm39)	V9A	probably damaging	Het
Dop1b	T	A	16: 93,558,973 (GRCm39)	V573E	probably benign	Het
Eef2k	A	T	7: 120,490,930 (GRCm39)	I517F	possibly damaging	Het
En1	T	C	1: 120,531,090 (GRCm39)	F110S	possibly damaging	Het
Evpl	T	A	11: 116,111,853 (GRCm39)	I1946F	probably damaging	Het
Gaa	A	T	11: 119,168,393 (GRCm39)	M502L	probably benign	Het
Gfer	C	T	17: 24,914,846 (GRCm39)	A66T	possibly damaging	Het
Gm13271	A	G	4: 88,673,213 (GRCm39)	T37A	probably benign	Het
Grm3	C	T	5: 9,561,499 (GRCm39)	A784T	probably damaging	Het
H3c8	A	G	13: 23,719,628 (GRCm39)	K5E	probably benign	Het
Helz	C	G	11: 107,493,835 (GRCm39)	S277C	probably damaging	Het
Henmt1	T	G	3: 108,867,652 (GRCm39)	*396G	probably null	Het
Hfe	C	T	13: 23,889,667 (GRCm39)	V327I	probably benign	Het
Hoxd8	A	T	2: 74,536,313 (GRCm39)	Q141L	probably damaging	Het
Hspa12b	T	G	2: 130,987,103 (GRCm39)	S675A	probably benign	Het
Ifi214	G	A	1: 173,354,133 (GRCm39)	T179I	possibly damaging	Het
Ighv5-9	T	A	12: 113,625,404 (GRCm39)	Y113F	possibly damaging	Het
Lca5l	T	A	16: 95,979,808 (GRCm39)	R112S	probably benign	Het
Loxhd1	C	T	18: 77,444,468 (GRCm39)	T608I	possibly damaging	Het
Lpl	C	A	8: 69,345,280 (GRCm39)	L95I	probably damaging	Het
Lrp2bp	A	T	8: 46,473,732 (GRCm39)	Q196L	probably damaging	Het
Ly6h	A	G	15: 75,438,056 (GRCm39)	Y19H	probably benign	Het
Mfsd6	T	C	1: 52,697,706 (GRCm39)		probably benign	Het
Mpo	T	C	11: 87,687,165 (GRCm39)	I237T	probably benign	Het
Mrpl41	A	G	2: 24,864,878 (GRCm39)	W6R	unknown	Het
Muc16	T	A	9: 18,567,353 (GRCm39)	H1722L	unknown	Het
Mug1	A	C	6: 121,851,434 (GRCm39)	D777A	probably benign	Het
Myh1	A	T	11: 67,111,354 (GRCm39)	I1598F	probably benign	Het
Myo1f	C	T	17: 33,794,879 (GRCm39)	R40C	probably damaging	Het
Myo6	G	A	9: 80,207,949 (GRCm39)		probably null	Het
Nbeal2	G	T	9: 110,458,707 (GRCm39)	N2071K	probably damaging	Het
Nectin4	T	A	1: 171,211,282 (GRCm39)	C269S	probably damaging	Het
Nhlrc1	A	T	13: 47,167,990 (GRCm39)	L89Q	probably damaging	Het
Nup205	T	C	6: 35,160,904 (GRCm39)	F103S	probably damaging	Het
Obscn	C	A	11: 58,970,470 (GRCm39)	V2379F	probably damaging	Het
Or5m8	A	T	2: 85,823,172 (GRCm39)	*337L	probably null	Het
Or5p62	A	T	7: 107,771,852 (GRCm39)	I33N	possibly damaging	Het
Plppr2	TCGCC	TC	9: 21,855,727 (GRCm39)		probably benign	Het
Ptbp3	A	G	4: 59,517,584 (GRCm39)	V101A	probably benign	Het
Rps6kb2	C	T	19: 4,213,229 (GRCm39)	D6N	probably damaging	Het
Rsph1	T	A	17: 31,484,828 (GRCm39)	H154L	probably damaging	Het
Sdk1	G	A	5: 142,071,382 (GRCm39)	V1191M	probably damaging	Het
Selenos	T	A	7: 65,729,467 (GRCm39)	D2E	probably benign	Het
Sema5a	G	A	15: 32,562,868 (GRCm39)	G293D	possibly damaging	Het
Sgcg	A	G	14: 61,469,930 (GRCm39)	S144P	probably damaging	Het
Sh3d19	T	C	3: 85,992,659 (GRCm39)	V229A	probably benign	Het
Sin3b	C	T	8: 73,476,708 (GRCm39)	A714V	probably benign	Het
Slitrk6	T	A	14: 110,988,123 (GRCm39)	Q528L	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,535,932 (GRCm39)	L4063H	probably damaging	Het
Stard9	A	C	2: 120,535,943 (GRCm39)	K4067Q	probably damaging	Het
Terb1	A	G	8: 105,195,741 (GRCm39)		probably null	Het
Tex2	T	A	11: 106,435,194 (GRCm39)	H744L	unknown	Het
Tex2	T	C	11: 106,458,414 (GRCm39)	S339G	unknown	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Trhr	A	T	15: 44,061,212 (GRCm39)	N244I	probably benign	Het
Ttn	G	A	2: 76,582,409 (GRCm39)	A22828V	probably damaging	Het
Uchl1	C	T	5: 66,833,601 (GRCm39)		probably benign	Het
Uroc1	A	T	6: 90,328,110 (GRCm39)	I529F	probably damaging	Het
Vps13c	G	T	9: 67,766,122 (GRCm39)	V80F	probably damaging	Het
Wnt1	T	A	15: 98,690,645 (GRCm39)	C325S	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
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'- AGAAACACATCAGGCAGGTC -3'
(R):5'- GGCCTTGCAAGAGATTTGACTG -3'

Sequencing Primer
(F):5'- GGTCCATTTCAACACAGACCTTGG -3'
(R):5'- CCTTGCAAGAGATTTGACTGAACTAC -3'

Posted On

2021-04-30