Mutagenetix > Incidental Mutation

Incidental Mutation 'RF030:Lrmp'

604309

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 #

RF030 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

145115653-145174934 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

ATTG to ATTGAGCACGTTG at 145173788 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: 99.5%
20x: 99.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	GGC	GGCTGC	19: 5,425,226		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,425,235		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,012,292		probably benign	Het
Ankhd1	GCGGCG	GCGGCGCCGGCG	18: 36,560,913		probably benign	Het
Ankhd1	GGCGGCAGC	GGCGGCAGCGGCAGC	18: 36,560,927		probably benign	Het
AY761185	GGGCACTGTGG	GGG	8: 20,943,900		probably null	Het
B430218F22Rik	GG	GGTCGGCG	13: 118,386,848		probably benign	Het
Calhm1	CTGTGGCTGTGGCTGTGGCTGTGG	CTGTGGCTGTGGATGTGGCTGTGGCTGTGGCTGTGG	19: 47,141,253		probably benign	Het
Cox7a2l	GGA	GGATAGGGA	17: 83,502,722		probably benign	Het
Cul9	CCTC	CCTCCTC	17: 46,500,869		probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,409		probably benign	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACGGCCCAGGGATGTGACAGACACAC	9: 87,040,415		probably benign	Het
Dmkn	GTG	GTGTTGGAAGTGGTGGAAGTGGTGGAAATG	7: 30,767,182		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Eed	C	A	7: 89,955,032	A411S	probably benign	Het
Fer1l4	GGTC	G	2: 156,045,529		probably benign	Het
Frem3	GATC	GATCATC	8: 80,615,238		probably benign	Het
Gab3	CTTTT	CT	X: 74,999,977		probably benign	Het
Gab3	TCT	TCTGCT	X: 75,000,005		probably benign	Het
Gab3	TCT	TCTCCT	X: 75,000,008		probably benign	Het
Gab3	TTC	TTCGTC	X: 75,000,025		probably benign	Het
Gab3	TCT	TCTGCT	X: 75,000,026		probably benign	Het
Gm35339	AGGAGGAGG	AG	15: 76,363,165		probably null	Het
Gm5475	GAAAGGTGGAAGGAAA	GAA	15: 100,427,156		probably null	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,671,393		probably null	Het
Gucy1b2	CACACACACACACACACTTAC	CAC	14: 62,408,641		probably benign	Het
Gucy2d	C	CTGGGGCCTG	7: 98,459,034		probably benign	Het
Hsdl2	CCACAGCTGCAG	CCACAGCTGCAGCAGCAGACACAGCTGCAG	4: 59,610,647		probably benign	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,125,827		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,125,842		probably benign	Het
Kmt2b	CTCCTC	CTCCTCTTCCTC	7: 30,586,377		probably benign	Het
Lce1m	C	CGGCTGCTGCCAA	3: 93,018,141		probably benign	Het
Lce1m	GCTGCCAC	GCTGCCACAGCAACTTCTGCCAC	3: 93,018,344		probably benign	Het
Mamld1	CAG	CAGTAG	X: 71,118,828		probably null	Het
Map1a	CAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCTAGCTCCA	2: 121,306,311		probably benign	Het
Map1a	CA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAA	2: 121,306,317		probably benign	Het
Med12l	GCA	GCATCA	3: 59,275,989		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,076,111		probably null	Het
Pdik1l	C	CCACCAA	4: 134,279,516		probably benign	Het
Pkhd1l1	TTTTTTT	TTTTTTTTTGTTTTTT	15: 44,558,502		probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT	10: 84,858,480		probably benign	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,785,301		probably benign	Het
Setd1a	GGTGGTAGT	GGTGGTAGTTGTGGTAGT	7: 127,785,311		probably benign	Het
Six5	CGGA	C	7: 19,094,800		probably benign	Het
Tcof1	CCAGA	CCAGACATCCCCTTGGCTGCTGAGCTGGGCACTTTCTCAGA	18: 60,833,568		probably benign	Het
Tcof1	ATCCCCTTGGC	ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGGTCCCCTTGGC	18: 60,833,574		probably benign	Het
Tcof1	CTGCTGCTGC	CTGCTGCTGCTGC	18: 60,835,723		probably benign	Het
Tfeb	AGC	AGCCGC	17: 47,786,111		probably benign	Het
Tfeb	GCA	GCACCA	17: 47,786,112		probably benign	Het
Tfeb	CAG	CAGAAG	17: 47,786,113		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,616,036		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,616,063		probably benign	Het
Thegl	AGCGATCCTCCCCAGTCCCGCAAGGCC	AGCGATCCTCCCCTGTCCCGCAAGGCCGGCGATCCTCCCCAGTCCCGCAAGGCC	5: 77,016,401		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973		probably benign	Het
Trappc9	TGCTGCT	TGCTGCTGCTGCTGCGGCTGCT	15: 72,801,325		probably benign	Het
Tsen2	GGA	GGACGA	6: 115,560,067		probably benign	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,036,483		probably benign	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	145173790	unclassified	probably benign
RF038:Lrmp	UTSW	6	145173790	unclassified	probably benign
RF043: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'- AGTTCCTGCCTGGTGTAAAAC -3'

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

Posted On

2019-12-04