Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03209:Lvrn'

413215

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lvrn

Ensembl Gene

ENSMUSG00000024481

Gene Name

laeverin

Synonyms

4833403I15Rik, Aqpep

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.375) question?

Stock #

IGL03209

Quality Score

Status

Chromosome

Chromosomal Location

46850039-46905446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46889498 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 734 (I734V)

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: I734V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025358
Gene: ENSMUSG00000024481
AA Change: I734V

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	C	T	2: 26,992,961	A841V	probably benign	Het
Alms1	A	G	6: 85,599,973		probably benign	Het
Arc	A	T	15: 74,671,984	L130Q	probably damaging	Het
Arhgap28	C	T	17: 67,868,956	V383I	probably damaging	Het
Atf6	T	C	1: 170,834,894	S266G	probably benign	Het
Cd59b	A	G	2: 104,084,560	E101G	probably benign	Het
Cdc26	T	C	4: 62,395,014	K30R	possibly damaging	Het
Clns1a	A	G	7: 97,711,730	D103G	probably null	Het
Crispld2	C	A	8: 120,031,098	A394E	possibly damaging	Het
Cyp51	A	T	5: 4,104,195	L38H	probably damaging	Het
Dnah7a	T	G	1: 53,686,614		probably benign	Het
Fbxw2	T	C	2: 34,822,663	R129G	probably damaging	Het
Fgd3	T	C	13: 49,285,818	Q234R	probably damaging	Het
Gdpgp1	A	G	7: 80,239,099	T293A	probably damaging	Het
Gm4951	T	A	18: 60,246,071	I226N	probably damaging	Het
Hspa12a	T	G	19: 58,822,061		probably null	Het
Ier5l	G	T	2: 30,473,055	D319E	possibly damaging	Het
Ikzf1	T	C	11: 11,700,226	V3A	probably benign	Het
Itga2	T	C	13: 114,880,632	N180D	probably damaging	Het
Lipt1	T	C	1: 37,875,069	S69P	probably damaging	Het
Man2c1	A	G	9: 57,141,830	T871A	probably benign	Het
Ndufs1	A	T	1: 63,164,737	C129S	probably damaging	Het
Neb	A	T	2: 52,290,819	F1232I	probably damaging	Het
Ngly1	T	A	14: 16,281,831	Y362*	probably null	Het
Olfr92	A	T	17: 37,111,521	S154T	probably benign	Het
Olfr993	A	T	2: 85,414,379	S167T	probably benign	Het
Patj	A	G	4: 98,465,140	D640G	probably null	Het
Plxnd1	A	T	6: 115,962,357	M1502K	probably damaging	Het
Sccpdh	T	C	1: 179,686,673	V429A	possibly damaging	Het
Slc25a48	T	C	13: 56,470,459	V303A	probably benign	Het
Sult2a6	T	C	7: 14,225,972	D212G	probably benign	Het
Tep1	A	T	14: 50,840,703		probably benign	Het
Tmem65	A	G	15: 58,784,902		probably benign	Het
Togaram2	T	C	17: 71,695,745		probably null	Het
Trim36	T	C	18: 46,167,508	T687A	probably benign	Het
Unc13b	T	A	4: 43,239,351	D3471E	probably damaging	Het
Urgcp	T	C	11: 5,717,238		probably null	Het
Zfhx4	A	T	3: 5,401,171	I2155F	probably damaging	Het
Zfp831	T	A	2: 174,645,266	V578E	probably benign	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
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
R6183:Lvrn	UTSW	18	46850685	missense	probably benign	0.14
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

Posted On

2016-08-02