Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01532:Lvrn'

89791

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: 0.454) question?

Stock #

IGL01532

Quality Score

Status

Chromosome

Chromosomal Location

46850039-46905446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46900484 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 921 (Y921N)

Ref Sequence

ENSEMBL: ENSMUSP00000025358 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025358
AA Change: Y921N

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

SMART Domains

Protein: ENSMUSP00000025358
Gene: ENSMUSG00000024481
AA Change: Y921N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178659

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	C	A	7: 66,908,601	N264K	probably damaging	Het
Adgrl3	C	T	5: 81,694,569	T260I	probably damaging	Het
Ambra1	G	T	2: 91,885,632	K769N	probably damaging	Het
Arel1	A	G	12: 84,934,162	V357A	possibly damaging	Het
Atp11b	T	A	3: 35,849,502	C76*	probably null	Het
AW112010	C	A	19: 11,048,069		noncoding transcript	Het
Bfar	A	T	16: 13,687,387		probably benign	Het
Ccdc70	T	G	8: 21,973,283	L30V	probably damaging	Het
Chrm5	C	T	2: 112,479,232	R513Q	probably benign	Het
Crem	G	A	18: 3,276,732	T7I	probably benign	Het
Cyp4f39	C	T	17: 32,470,954		probably benign	Het
Dlg5	T	C	14: 24,158,592	T849A	probably benign	Het
Dock8	G	T	19: 25,169,441	G1428V	probably damaging	Het
Eomes	T	C	9: 118,482,249	I380T	probably damaging	Het
Fam13a	T	C	6: 58,940,295	D532G	probably damaging	Het
Fopnl	A	G	16: 14,304,511	S130P	probably benign	Het
Gm10061	G	T	16: 89,151,302	*55L	probably null	Het
Gm27438	T	G	2: 87,252,925		probably benign	Het
Gpalpp1	T	C	14: 76,102,502	K124E	probably benign	Het
Hgs	T	A	11: 120,477,509		probably null	Het
Hpn	T	A	7: 31,103,513	M121L	possibly damaging	Het
Il1r1	T	C	1: 40,294,928		probably null	Het
Jag2	A	T	12: 112,914,363	C583S	probably damaging	Het
Katnal2	T	C	18: 77,012,000	H146R	probably benign	Het
Ldah	T	C	12: 8,220,596		probably benign	Het
Muc5b	A	G	7: 141,870,006	Y4572C	possibly damaging	Het
Myo16	A	G	8: 10,400,551	S518G	probably benign	Het
Ncf1	T	C	5: 134,226,593	N148S	probably benign	Het
Nes	T	G	3: 87,978,347	D1260E	possibly damaging	Het
Nup210	C	A	6: 91,085,999		probably benign	Het
Olfr548-ps1	T	C	7: 102,542,656	L240P	probably damaging	Het
Rnf31	C	A	14: 55,602,623	Q968K	probably damaging	Het
Ros1	A	G	10: 52,090,938		probably benign	Het
Ryk	T	C	9: 102,897,266	Y400H	probably benign	Het
Slc4a5	T	A	6: 83,273,040		probably null	Het
Sptssb	A	G	3: 69,820,869		probably benign	Het
Sstr5	T	C	17: 25,491,331	D308G	probably damaging	Het
Taf2	A	G	15: 55,049,486	W493R	possibly damaging	Het
Vmn2r28	T	A	7: 5,486,464	I459L	probably benign	Het
Vti1b	A	C	12: 79,165,138	L1W	probably null	Het
Wdr1	T	C	5: 38,535,187	Y125C	probably damaging	Het

Other mutations in Lvrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Lvrn	APN	18	46864666	splice site	probably benign
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
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

2013-12-03