Mutagenetix > Incidental Mutation

Incidental Mutation 'RF043:Lrmp'

604915

Institutional Source

Beutler Lab

Gene Symbol

Lrmp

Ensembl Gene

ENSMUSG00000030263

Gene Name

lymphoid-restricted membrane protein

Synonyms

D6Int8, D6Int7, D6Int5, D6Int4, D6Int3, Jaw1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF043 (G1)

Quality Score

214.46

Status

Not validated

Chromosome

Chromosomal Location

145115653-145174934 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

TG to TGAGCACATGG at 145173790 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032396] [ENSMUST00000060797] [ENSMUST00000111728] [ENSMUST00000135984] [ENSMUST00000204105]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032396

SMART Domains

Protein: ENSMUSP00000032396
Gene: ENSMUSG00000030263

Domain	Start	End	E-Value	Type
Pfam:MRVI1	10	539	3.2e-265	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060797

SMART Domains

Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541

Domain	Start	End	E-Value	Type
low complexity region	1	14	N/A	INTRINSIC
Pfam:Casc1_N	29	229	5.5e-61	PFAM
Pfam:Casc1	241	469	3.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111728

SMART Domains

Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541

Domain	Start	End	E-Value	Type
coiled coil region	1	45	N/A	INTRINSIC
Pfam:Casc1	228	456	6.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132948

SMART Domains

Protein: ENSMUSP00000120248
Gene: ENSMUSG00000030263

Domain	Start	End	E-Value	Type
Pfam:MRVI1	8	504	3.7e-248	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135984

Predicted Effect

probably benign
Transcript: ENSMUST00000204105

SMART Domains

Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541

Domain	Start	End	E-Value	Type
low complexity region	1	14	N/A	INTRINSIC
Pfam:Casc1_N	29	229	3.4e-57	PFAM
Pfam:Casc1	241	469	2.3e-11	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc2	GCGGCGGCGGCGAC	GC	2: 25,272,561		probably benign	Het
Ankhd1	CGGCGG	CGGCGGTGGCGG	18: 36,560,917		probably benign	Het
Btnl10	CAAA	CAAAAAA	11: 58,923,926		probably benign	Het
Cpne1	TCCAC	TC	2: 156,073,510		probably benign	Het
Cyb5r4	ACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,411		probably benign	Het
Cyb5r4	AGACACACTGCCCAGGGA	AGACACACTGCCCAGGGATGTGACCGACACACTGCCCAGGGA	9: 87,040,431		probably benign	Het
Dbr1	GAGGAG	GAGGAGCAGGAG	9: 99,583,697		probably benign	Het
Defb22	GCGGCA	GCGGCAGAGCTGGCCTTTGCGGCA	2: 152,485,833		probably benign	Het
Emid1	G	T	11: 5,144,322	P63Q	probably damaging	Het
Gabre	GCTCCG	GCTCCGACTCCG	X: 72,270,048		probably benign	Het
Gar1	AACTGCC	A	3: 129,830,688		probably benign	Het
Gm10181	GAGAGAGAGAGAGA	G	9: 25,089,459		probably null	Het
Hic1	GGGA	G	11: 75,169,455		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,125,842		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCGTTTTCCTTTT	9: 106,570,613		probably benign	Het
Krtap4-2	AGGGGCGGCAGC	A	11: 99,634,721		probably null	Het
Lmx1b	CATCTTGATGCCGTCCAA	CA	2: 33,640,509		probably null	Het
Lrch1	TGGTGGTG	T	14: 74,947,575		probably null	Het
Lypd8	CA	CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAAGA	11: 58,390,243		probably benign	Het
Mamld1	AGC	AGCTGC	X: 71,118,835		probably benign	Het
Mrgprx1	GAAC	GAACAAC	7: 48,021,509		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	11: 4,941,016		probably benign	Het
Nusap1	AGTGAGGAGCAAGCTGAGA	AGTGAGGAGCAAGCTGAGATACACGTTAGCCGTGAGGAGCAAGCTGAGA	2: 119,627,592		probably benign	Het
P4ha2	GGTGTTG	GG	11: 54,110,250		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972		probably benign	Het
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,479,858		probably benign	Het
Ptms	TCCTCCTC	TCCTCCTCCTC	6: 124,914,448		probably benign	Het
Rassf6	AATGGGGATTC	AATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGCCATGGGGATTC	5: 90,608,932		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCAGGGTCCTGTAGAGCAATGGGGCTTC	5: 90,608,939		probably benign	Het
Rgs22	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAA	15: 36,010,836		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCGCTC	12: 26,314,014		probably benign	Het
Rpgrip1	GAG	GAGAAG	14: 52,149,395		probably benign	Het
Sgpp1	ACACAC	A	12: 75,722,625		probably null	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCACCATGATCGCTGTGTTC	15: 76,614,870		probably benign	Het
Spaca1	TCTCGC	TCTCGCGCTCGC	4: 34,049,846		probably benign	Het
Stard8	GGA	GGATGA	X: 99,066,520		probably benign	Het
Stard8	GA	GAGCA	X: 99,066,527		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGAAGGGCACTTTCCCAGGGATCCCCTTGGC	18: 60,833,572		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,616,036		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCGCCCGTGGTCTTGCCAGAAT	6: 72,616,063		probably benign	Het
Tmed6	AGC	AGCTCGC	8: 107,061,596		probably null	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,801,305		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,825,731		probably null	Het

Other mutations in Lrmp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00918:Lrmp	APN	6	145167994	missense	probably damaging	1.00
IGL01066:Lrmp	APN	6	145160955	missense	probably damaging	1.00
IGL01877:Lrmp	APN	6	145147799	missense	probably damaging	0.99
IGL02154:Lrmp	APN	6	145138241	missense	possibly damaging	0.92
IGL02727:Lrmp	APN	6	145174618	missense	possibly damaging	0.78
FR4976:Lrmp	UTSW	6	145173785	unclassified	probably benign
R0238:Lrmp	UTSW	6	145171978	unclassified	probably benign
R0239:Lrmp	UTSW	6	145171978	unclassified	probably benign
R0454:Lrmp	UTSW	6	145167984	missense	possibly damaging	0.73
R0485:Lrmp	UTSW	6	145165212	missense	probably damaging	1.00
R0487:Lrmp	UTSW	6	145165260	missense	probably benign	0.02
R0554:Lrmp	UTSW	6	145165287	missense	probably benign	0.01
R0634:Lrmp	UTSW	6	145174628	missense	probably damaging	0.98
R1440:Lrmp	UTSW	6	145174511	missense	possibly damaging	0.77
R1574:Lrmp	UTSW	6	145158630	splice site	probably benign
R1697:Lrmp	UTSW	6	145137615	splice site	probably benign
R1968:Lrmp	UTSW	6	145169773	missense	probably damaging	0.98
R3735:Lrmp	UTSW	6	145160870	splice site	probably benign
R3736:Lrmp	UTSW	6	145160870	splice site	probably benign
R4643:Lrmp	UTSW	6	145168060	missense	probably benign	0.17
R4812:Lrmp	UTSW	6	145148011	missense	probably damaging	1.00
R4916:Lrmp	UTSW	6	145165301	missense	probably damaging	1.00
R5183:Lrmp	UTSW	6	145138220	missense	probably benign	0.23
R5845:Lrmp	UTSW	6	145171666	missense	probably benign	0.00
R6701:Lrmp	UTSW	6	145144976	nonsense	probably null
R6735:Lrmp	UTSW	6	145160893	missense	probably damaging	1.00
R7083:Lrmp	UTSW	6	145169783	missense	probably damaging	1.00
R7317:Lrmp	UTSW	6	145158698	missense	possibly damaging	0.93
R7468:Lrmp	UTSW	6	145173701	splice site	probably null
R8429:Lrmp	UTSW	6	145165223	missense	probably damaging	1.00
R8485:Lrmp	UTSW	6	145171674	missense	probably damaging	1.00
R8779:Lrmp	UTSW	6	145138199	missense	probably benign	0.00
R8955:Lrmp	UTSW	6	145171664	missense	probably benign
R9034:Lrmp	UTSW	6	145137547	missense	probably benign
R9487:Lrmp	UTSW	6	145174531	missense	probably benign	0.00
R9488:Lrmp	UTSW	6	145168027	missense	probably damaging	1.00
R9676:Lrmp	UTSW	6	145174612	missense	probably damaging	1.00
RF003:Lrmp	UTSW	6	145173783	unclassified	probably benign
RF015:Lrmp	UTSW	6	145173783	unclassified	probably benign
RF017:Lrmp	UTSW	6	145173784	unclassified	probably benign
RF027:Lrmp	UTSW	6	145173790	unclassified	probably benign
RF029:Lrmp	UTSW	6	145173790	unclassified	probably benign
RF030:Lrmp	UTSW	6	145173788	unclassified	probably benign
RF030:Lrmp	UTSW	6	145173790	unclassified	probably benign
RF038:Lrmp	UTSW	6	145173790	unclassified	probably benign
RF044:Lrmp	UTSW	6	145173790	unclassified	probably benign
RF048:Lrmp	UTSW	6	145173784	unclassified	probably benign
RF052:Lrmp	UTSW	6	145160531	critical splice acceptor site	probably benign
RF054:Lrmp	UTSW	6	145173788	unclassified	probably benign
RF055:Lrmp	UTSW	6	145173785	unclassified	probably benign
Z1177:Lrmp	UTSW	6	145148074	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTCTCACCTGACCATTATACTACACAG -3'
(R):5'- AAGTTCCTGCCTGGTGTAAAAC -3'

Sequencing Primer
(F):5'- AATTCCAGTAAGTTTTGTGAGCG -3'
(R):5'- CCTGCCTGGTGTAAAACTGTTAG -3'

Posted On

2019-12-04