Mutagenetix > Incidental Mutation

Incidental Mutation 'R4866:Lvrn'

374952

Institutional Source

Beutler Lab

Gene Symbol

Lvrn

Ensembl Gene

ENSMUSG00000024481

Gene Name

laeverin

Synonyms

4833403I15Rik, Aqpep

MMRRC Submission

042476-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.342) question?

Stock #

R4866 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46983105-47040309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 47026768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 789 (A789S)

Ref Sequence

ENSEMBL: ENSMUSP00000025358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025358]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025358
AA Change: A789S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025358
Gene: ENSMUSG00000024481
AA Change: A789S

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Peptidase_M1	94	504	1.6e-110	PFAM
Pfam:ERAP1_C	645	968	2.5e-60	PFAM

Meta Mutation Damage Score

0.1748

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Abcc5	A	T	16: 20,241,182 (GRCm39)	M1K	probably null	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adam5	A	C	8: 25,232,172 (GRCm39)		probably null	Het
Adam5	G	A	8: 25,271,619 (GRCm39)	T596I	probably damaging	Het
Apoa2	T	C	1: 171,053,369 (GRCm39)		probably null	Het
Atad1	A	T	19: 32,679,964 (GRCm39)	H79Q	probably benign	Het
Atp8a2	T	C	14: 59,928,916 (GRCm39)	D1046G	probably damaging	Het
Bcam	A	G	7: 19,499,397 (GRCm39)	Y209H	probably benign	Het
Brpf1	G	A	6: 113,299,431 (GRCm39)	V1120I	probably damaging	Het
Catsperb	G	A	12: 101,474,208 (GRCm39)	C302Y	probably damaging	Het
Cbl	A	G	9: 44,064,166 (GRCm39)	V790A	probably benign	Het
Ccdc60	T	C	5: 116,310,549 (GRCm39)	D171G	probably damaging	Het
Cd300c2	A	T	11: 114,891,807 (GRCm39)	C22*	probably null	Het
Cdan1	C	A	2: 120,561,928 (GRCm39)		probably benign	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cfap410	T	A	10: 77,817,413 (GRCm39)		probably null	Het
Cfap65	T	C	1: 74,964,716 (GRCm39)	D479G	probably damaging	Het
Cmbl	A	G	15: 31,585,490 (GRCm39)	K113E	probably benign	Het
Cog6	G	A	3: 52,918,019 (GRCm39)	T173I	probably benign	Het
Cts6	T	A	13: 61,350,090 (GRCm39)		probably null	Het
Cyp11a1	G	A	9: 57,933,380 (GRCm39)	V413M	probably damaging	Het
Cyp2c39	G	A	19: 39,502,020 (GRCm39)	M136I	probably benign	Het
Dclre1b	A	T	3: 103,715,412 (GRCm39)	Y29N	probably damaging	Het
Depdc1a	T	A	3: 159,221,764 (GRCm39)	I236K	probably damaging	Het
Dhx36	A	T	3: 62,380,198 (GRCm39)	Y833N	probably damaging	Het
Dop1b	G	T	16: 93,560,318 (GRCm39)		probably null	Het
Elovl3	A	G	19: 46,120,603 (GRCm39)	E32G	possibly damaging	Het
Entrep1	A	G	19: 23,952,790 (GRCm39)	S507P	possibly damaging	Het
Epcam	T	C	17: 87,951,049 (GRCm39)	V212A	possibly damaging	Het
Fcrl2	A	T	3: 87,170,773 (GRCm39)	C4S	possibly damaging	Het
Galnt16	T	C	12: 80,630,851 (GRCm39)	Y310H	probably damaging	Het
Gm12789	G	A	4: 101,846,182 (GRCm39)		probably benign	Het
Gspt1	C	T	16: 11,040,529 (GRCm39)	R593H	possibly damaging	Het
Hmcn2	A	T	2: 31,279,403 (GRCm39)	T1802S	possibly damaging	Het
Igha	A	G	12: 113,223,129 (GRCm39)	V166A	probably benign	Het
Itfg2	A	G	6: 128,393,279 (GRCm39)		probably benign	Het
Jund	T	C	8: 71,152,254 (GRCm39)	V183A	probably damaging	Het
Katnb1	T	C	8: 95,824,132 (GRCm39)	S471P	possibly damaging	Het
Kazn	A	G	4: 141,832,216 (GRCm39)	F661S	unknown	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Lgr5	C	T	10: 115,288,590 (GRCm39)	V661I	probably benign	Het
Mapk10	T	C	5: 103,111,391 (GRCm39)	D351G	probably damaging	Het
Mga	T	A	2: 119,794,535 (GRCm39)	C2622S	possibly damaging	Het
Mios	T	G	6: 8,214,857 (GRCm39)	F18V	probably damaging	Het
Mllt6	A	G	11: 97,565,285 (GRCm39)	D575G	probably damaging	Het
Mmp10	G	A	9: 7,508,190 (GRCm39)	V439M	probably damaging	Het
Myh4	A	G	11: 67,139,453 (GRCm39)	D590G	probably benign	Het
Ndufs2	C	T	1: 171,074,618 (GRCm39)	G14R	probably benign	Het
Or10ad1b	T	A	15: 98,125,371 (GRCm39)	I52F	probably damaging	Het
Or51a7	A	T	7: 102,614,927 (GRCm39)	M207L	probably benign	Het
Or56a4	T	C	7: 104,806,514 (GRCm39)	Y125C	possibly damaging	Het
Or8g26	A	G	9: 39,096,367 (GRCm39)	K298E	probably damaging	Het
Plau	G	T	14: 20,887,872 (GRCm39)	V39L	probably benign	Het
Ppp3cb	A	G	14: 20,573,911 (GRCm39)	C275R	probably damaging	Het
Ppp4r4	T	G	12: 103,566,706 (GRCm39)	M51R	possibly damaging	Het
Prr5	A	G	15: 84,626,105 (GRCm39)	Y60C	probably damaging	Het
Ptprt	T	C	2: 161,402,159 (GRCm39)	D1023G	probably damaging	Het
Raly	T	A	2: 154,703,816 (GRCm39)	V129E	probably damaging	Het
Rsph10b	A	G	5: 143,885,347 (GRCm39)	E249G	probably benign	Het
Sart1	A	C	19: 5,432,248 (GRCm39)	L577W	probably damaging	Het
Senp1	T	C	15: 97,964,729 (GRCm39)	E189G	possibly damaging	Het
Slc22a2	G	T	17: 12,803,316 (GRCm39)	C50F	probably damaging	Het
Spem1	A	T	11: 69,711,755 (GRCm39)	V303E	probably damaging	Het
Tgfb3	A	G	12: 86,124,588 (GRCm39)	V40A	possibly damaging	Het
Ttl	T	C	2: 128,923,147 (GRCm39)	S163P	probably damaging	Het
Ttll9	C	A	2: 152,844,920 (GRCm39)	N429K	probably benign	Het
Uggt1	G	A	1: 36,241,936 (GRCm39)	R333*	probably null	Het
Zfhx2	A	G	14: 55,302,993 (GRCm39)	S1664P	possibly damaging	Het
Zfp51	T	A	17: 21,682,012 (GRCm39)	D70E	possibly damaging	Het
Zfp592	T	A	7: 80,691,607 (GRCm39)	V1262E	probably damaging	Het
Zfp595	C	A	13: 67,465,760 (GRCm39)	G168C	probably damaging	Het
Zswim9	A	T	7: 12,995,095 (GRCm39)	S354T	probably damaging	Het

Other mutations in Lvrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Lvrn	APN	18	46,997,733 (GRCm39)	splice site	probably benign
IGL01532:Lvrn	APN	18	47,033,551 (GRCm39)	missense	probably damaging	1.00
IGL02430:Lvrn	APN	18	47,027,797 (GRCm39)	missense	probably benign	0.03
IGL02573:Lvrn	APN	18	47,010,016 (GRCm39)	missense	probably damaging	0.98
IGL02592:Lvrn	APN	18	46,983,658 (GRCm39)	missense	probably damaging	1.00
IGL02754:Lvrn	APN	18	47,023,971 (GRCm39)	nonsense	probably null
IGL03089:Lvrn	APN	18	47,013,776 (GRCm39)	missense	probably damaging	0.99
IGL03209:Lvrn	APN	18	47,022,565 (GRCm39)	missense	probably benign	0.00
IGL03333:Lvrn	APN	18	46,997,731 (GRCm39)	splice site	probably benign
IGL03098:Lvrn	UTSW	18	47,014,477 (GRCm39)	critical splice acceptor site	probably null
R0319:Lvrn	UTSW	18	46,997,820 (GRCm39)	missense	probably damaging	1.00
R0391:Lvrn	UTSW	18	46,983,533 (GRCm39)	missense	probably benign	0.01
R0398:Lvrn	UTSW	18	47,013,760 (GRCm39)	missense	probably benign	0.06
R0432:Lvrn	UTSW	18	47,038,366 (GRCm39)	missense	possibly damaging	0.94
R0456:Lvrn	UTSW	18	46,997,883 (GRCm39)	critical splice donor site	probably null
R1458:Lvrn	UTSW	18	47,015,452 (GRCm39)	splice site	probably benign
R1612:Lvrn	UTSW	18	47,027,770 (GRCm39)	missense	probably damaging	0.99
R1935:Lvrn	UTSW	18	47,011,387 (GRCm39)	missense	probably benign	0.10
R1936:Lvrn	UTSW	18	47,011,387 (GRCm39)	missense	probably benign	0.10
R1959:Lvrn	UTSW	18	47,027,784 (GRCm39)	missense	probably damaging	1.00
R2000:Lvrn	UTSW	18	47,038,374 (GRCm39)	missense	probably benign	0.04
R2022:Lvrn	UTSW	18	46,999,503 (GRCm39)	missense	possibly damaging	0.81
R2106:Lvrn	UTSW	18	47,011,356 (GRCm39)	missense	probably damaging	1.00
R2197:Lvrn	UTSW	18	47,011,409 (GRCm39)	missense	probably benign	0.03
R2371:Lvrn	UTSW	18	47,011,230 (GRCm39)	splice site	probably null
R4125:Lvrn	UTSW	18	47,010,036 (GRCm39)	missense	possibly damaging	0.53
R4606:Lvrn	UTSW	18	46,997,832 (GRCm39)	missense	possibly damaging	0.92
R4830:Lvrn	UTSW	18	47,038,418 (GRCm39)	missense	probably damaging	1.00
R4900:Lvrn	UTSW	18	47,014,479 (GRCm39)	missense	probably damaging	1.00
R4900:Lvrn	UTSW	18	47,026,768 (GRCm39)	missense	probably damaging	1.00
R4924:Lvrn	UTSW	18	47,027,792 (GRCm39)	missense	probably damaging	1.00
R4948:Lvrn	UTSW	18	47,013,803 (GRCm39)	missense	probably damaging	1.00
R5167:Lvrn	UTSW	18	47,013,814 (GRCm39)	missense	probably damaging	0.99
R5527:Lvrn	UTSW	18	47,006,870 (GRCm39)	missense	probably damaging	1.00
R5581:Lvrn	UTSW	18	47,023,932 (GRCm39)	missense	probably benign	0.17
R5615:Lvrn	UTSW	18	46,983,395 (GRCm39)	missense	possibly damaging	0.55
R5859:Lvrn	UTSW	18	47,026,816 (GRCm39)	missense	probably damaging	1.00
R6149:Lvrn	UTSW	18	47,017,499 (GRCm39)	missense	probably benign	0.10
R6183:Lvrn	UTSW	18	46,983,752 (GRCm39)	missense	probably benign	0.14
R6378:Lvrn	UTSW	18	47,028,024 (GRCm39)	missense	probably benign	0.00
R6838:Lvrn	UTSW	18	47,023,947 (GRCm39)	missense	possibly damaging	0.88
R6993:Lvrn	UTSW	18	47,015,365 (GRCm39)	missense	probably benign	0.18
R7017:Lvrn	UTSW	18	46,983,745 (GRCm39)	missense	probably benign	0.00
R7168:Lvrn	UTSW	18	47,014,389 (GRCm39)	missense	probably benign	0.29
R7190:Lvrn	UTSW	18	47,033,570 (GRCm39)	missense	probably benign	0.02
R7315:Lvrn	UTSW	18	47,010,051 (GRCm39)	missense	probably benign	0.34
R8293:Lvrn	UTSW	18	46,983,632 (GRCm39)	missense	possibly damaging	0.75
R8375:Lvrn	UTSW	18	46,983,289 (GRCm39)	missense	probably damaging	0.98
R9563:Lvrn	UTSW	18	47,017,506 (GRCm39)	missense	probably damaging	1.00
R9564:Lvrn	UTSW	18	47,017,506 (GRCm39)	missense	probably damaging	1.00
R9565:Lvrn	UTSW	18	47,017,506 (GRCm39)	missense	probably damaging	1.00
R9585:Lvrn	UTSW	18	47,011,411 (GRCm39)	critical splice donor site	probably null
R9599:Lvrn	UTSW	18	46,999,494 (GRCm39)	missense	probably benign	0.37
R9694:Lvrn	UTSW	18	47,033,609 (GRCm39)	missense	probably damaging	1.00
R9709:Lvrn	UTSW	18	47,006,847 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTAGGAACTTGCTGGTGCCC -3'
(R):5'- GTGCCTCTCAAGTCTAAGAACAC -3'

Sequencing Primer
(F):5'- ACTTGCTGGTGCCCACAGAC -3'
(R):5'- GTCTAAGAACACCACCAGAGGAG -3'

Posted On

2016-03-17