Mutagenetix > Incidental Mutations

Incidental Mutation 'R6183:Lvrn'

487648

Institutional Source

Beutler Lab

Gene Symbol

Lvrn

Ensembl Gene

ENSMUSG00000024481

Gene Name

laeverin

Synonyms

4833403I15Rik, Aqpep

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.543) question?

Stock #

R6183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46850039-46905446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46850685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 165 (N165S)

Ref Sequence

ENSEMBL: ENSMUSP00000025358 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025358
AA Change: N165S

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000025358
Gene: ENSMUSG00000024481
AA Change: N165S

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	C	5: 31,487,976	Y358H	probably damaging	Het
5830411N06Rik	A	G	7: 140,296,034	T404A	possibly damaging	Het
Abcb4	T	A	5: 8,918,718	D352E	probably benign	Het
Adgrb3	T	A	1: 25,094,370	I972L	probably damaging	Het
Alg3	T	C	16: 20,610,641	Y33C	probably benign	Het
Atp1a3	C	T	7: 24,981,752	G816D	probably damaging	Het
Ces1g	C	T	8: 93,331,239	V145M	possibly damaging	Het
Clip1	A	G	5: 123,642,604	S339P	probably damaging	Het
Col2a1	G	T	15: 97,988,790	T378N	unknown	Het
Dennd4b	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	3: 90,275,568		probably benign	Het
Dnah12	T	A	14: 26,861,769	L3207Q	probably damaging	Het
Efcab5	T	C	11: 77,137,258	T416A	probably benign	Het
Ephb1	A	T	9: 102,195,325	I85N	probably damaging	Het
Etnppl	T	C	3: 130,620,317	C22R	probably damaging	Het
F830016B08Rik	A	G	18: 60,299,877	T11A	probably benign	Het
Gm5458	C	A	14: 19,599,644	V171L	probably damaging	Het
Helb	G	T	10: 120,112,998		probably null	Het
Hnrnpll	A	G	17: 80,049,876	V237A	possibly damaging	Het
Hps3	T	C	3: 20,008,868	T712A	probably benign	Het
Ibsp	A	G	5: 104,306,030	E78G	possibly damaging	Het
Ighv1-62-2	G	A	12: 115,446,436	A111V	probably damaging	Het
Igkv4-63	G	T	6: 69,378,124	Q58K	probably damaging	Het
Iqcg	T	C	16: 33,030,923	Y226C	probably damaging	Het
Khdc1a	A	T	1: 21,350,108	D30V	possibly damaging	Het
Krtap5-5	C	A	7: 142,229,787	C42F	unknown	Het
Lmod3	T	C	6: 97,252,553	N7D	probably damaging	Het
Ms4a4c	A	G	19: 11,426,229	T192A	possibly damaging	Het
Ncald	A	T	15: 37,397,232	V68D	probably damaging	Het
Olfr1507	T	A	14: 52,490,731	T78S	probably benign	Het
Pcdhgb7	A	T	18: 37,752,262	I162F	probably damaging	Het
Prokr1	T	C	6: 87,588,852	T4A	possibly damaging	Het
Qrich2	T	A	11: 116,458,129		probably benign	Het
Rgl1	C	T	1: 152,586,570	E60K	possibly damaging	Het
Rtn1	A	T	12: 72,408,491	W21R	probably benign	Het
Spast	A	G	17: 74,373,358	I438M	probably damaging	Het
Sptbn5	C	T	2: 120,059,417		probably benign	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Het
Tas1r1	A	G	4: 152,032,541	I212T	probably damaging	Het
Tbc1d1	A	G	5: 64,275,425	N439D	probably damaging	Het
Tjp2	C	T	19: 24,100,791	A913T	probably damaging	Het
Tnfrsf26	A	G	7: 143,611,757	L47P	probably damaging	Het
Unc13a	A	T	8: 71,644,666	S1195T	probably damaging	Het
Usp54	T	C	14: 20,552,245	R1346G	probably damaging	Het
Vmn1r54	T	A	6: 90,269,290	M62K	possibly damaging	Het
Vmn2r125	A	T	4: 156,350,069	D50V	probably damaging	Het
Vmn2r66	T	C	7: 84,995,558	D548G	possibly damaging	Het
Vmn2r95	T	A	17: 18,443,930	N470K	probably damaging	Het
Zc3h7a	A	T	16: 11,147,370	I633N	possibly damaging	Het

Other mutations in Lvrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Lvrn	APN	18	46864666	splice site	probably benign
IGL01532:Lvrn	APN	18	46900484	missense	probably damaging	1.00
IGL02430:Lvrn	APN	18	46894730	missense	probably benign	0.03
IGL02573:Lvrn	APN	18	46876949	missense	probably damaging	0.98
IGL02592:Lvrn	APN	18	46850591	missense	probably damaging	1.00
IGL02754:Lvrn	APN	18	46890904	nonsense	probably null
IGL03089:Lvrn	APN	18	46880709	missense	probably damaging	0.99
IGL03209:Lvrn	APN	18	46889498	missense	probably benign	0.00
IGL03333:Lvrn	APN	18	46864664	splice site	probably benign
IGL03098:Lvrn	UTSW	18	46881410	critical splice acceptor site	probably null
R0319:Lvrn	UTSW	18	46864753	missense	probably damaging	1.00
R0391:Lvrn	UTSW	18	46850466	missense	probably benign	0.01
R0398:Lvrn	UTSW	18	46880693	missense	probably benign	0.06
R0432:Lvrn	UTSW	18	46905299	missense	possibly damaging	0.94
R0456:Lvrn	UTSW	18	46864816	critical splice donor site	probably null
R1458:Lvrn	UTSW	18	46882385	splice site	probably benign
R1612:Lvrn	UTSW	18	46894703	missense	probably damaging	0.99
R1935:Lvrn	UTSW	18	46878320	missense	probably benign	0.10
R1936:Lvrn	UTSW	18	46878320	missense	probably benign	0.10
R1959:Lvrn	UTSW	18	46894717	missense	probably damaging	1.00
R2000:Lvrn	UTSW	18	46905307	missense	probably benign	0.04
R2022:Lvrn	UTSW	18	46866436	missense	possibly damaging	0.81
R2106:Lvrn	UTSW	18	46878289	missense	probably damaging	1.00
R2197:Lvrn	UTSW	18	46878342	missense	probably benign	0.03
R2371:Lvrn	UTSW	18	46878163	splice site	probably null
R4125:Lvrn	UTSW	18	46876969	missense	possibly damaging	0.53
R4606:Lvrn	UTSW	18	46864765	missense	possibly damaging	0.92
R4830:Lvrn	UTSW	18	46905351	missense	probably damaging	1.00
R4866:Lvrn	UTSW	18	46893701	missense	probably damaging	1.00
R4900:Lvrn	UTSW	18	46893701	missense	probably damaging	1.00
R4900:Lvrn	UTSW	18	46881412	missense	probably damaging	1.00
R4924:Lvrn	UTSW	18	46894725	missense	probably damaging	1.00
R4948:Lvrn	UTSW	18	46880736	missense	probably damaging	1.00
R5167:Lvrn	UTSW	18	46880747	missense	probably damaging	0.99
R5527:Lvrn	UTSW	18	46873803	missense	probably damaging	1.00
R5581:Lvrn	UTSW	18	46890865	missense	probably benign	0.17
R5615:Lvrn	UTSW	18	46850328	missense	possibly damaging	0.55
R5859:Lvrn	UTSW	18	46893749	missense	probably damaging	1.00
R6149:Lvrn	UTSW	18	46884432	missense	probably benign	0.10
R6378:Lvrn	UTSW	18	46894957	missense	probably benign	0.00
R6838:Lvrn	UTSW	18	46890880	missense	possibly damaging	0.88
R6993:Lvrn	UTSW	18	46882298	missense	probably benign	0.18
R7017:Lvrn	UTSW	18	46850678	missense	probably benign	0.00
R7168:Lvrn	UTSW	18	46881322	missense	probably benign	0.29
R7190:Lvrn	UTSW	18	46900503	missense	probably benign	0.02
R7315:Lvrn	UTSW	18	46876984	missense	probably benign	0.34
R8293:Lvrn	UTSW	18	46850565	missense	possibly damaging	0.75
R8375:Lvrn	UTSW	18	46850222	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCCACTTCACTATGATCTGGAGC -3'
(R):5'- CATAGCCCTTACCTGAGCTC -3'

Sequencing Primer
(F):5'- CACTATGATCTGGAGCTGTGGCC -3'
(R):5'- CTGAGCTCATCTTCATCATGGTAGAG -3'

Posted On

2017-10-10