Mutagenetix > Incidental Mutation

Incidental Mutation 'R5581:Lvrn'

438478

Institutional Source

Beutler Lab

Gene Symbol

Lvrn

Ensembl Gene

ENSMUSG00000024481

Gene Name

laeverin

Synonyms

4833403I15Rik, Aqpep

MMRRC Submission

043135-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.374) question?

Stock #

R5581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46983105-47040309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47023932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 760 (T760A)

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: T760A

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025358
Gene: ENSMUSG00000024481
AA Change: T760A

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: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appbp2	G	C	11: 85,100,921 (GRCm39)	R173G	possibly damaging	Het
Bcl11a	A	G	11: 24,113,932 (GRCm39)	K425R	probably damaging	Het
Casr	A	G	16: 36,315,106 (GRCm39)	M911T	probably benign	Het
Cdon	C	T	9: 35,415,377 (GRCm39)	A1205V	probably benign	Het
Chfr	T	C	5: 110,301,148 (GRCm39)		probably null	Het
Dixdc1	A	G	9: 50,580,780 (GRCm39)	L638P	probably damaging	Het
Filip1	C	T	9: 79,727,042 (GRCm39)	V526M	possibly damaging	Het
Fsip2	T	A	2: 82,828,472 (GRCm39)	D6756E	possibly damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Myh7	T	A	14: 55,216,411 (GRCm39)	M1256L	probably benign	Het
Ndufb11b	T	C	15: 81,865,037 (GRCm39)	S93P	probably damaging	Het
Or8g17	T	A	9: 38,929,998 (GRCm39)	I280F	probably damaging	Het
Pdia5	T	C	16: 35,269,812 (GRCm39)	R166G	probably benign	Het
Plcz1	A	G	6: 139,968,851 (GRCm39)	Y196H	probably damaging	Het
Ptpn12	T	A	5: 21,220,724 (GRCm39)	E135D	probably damaging	Het
Rnh1	T	C	7: 140,743,294 (GRCm39)	D191G	probably benign	Het
Slit1	A	G	19: 41,605,102 (GRCm39)		probably null	Het
Syne2	T	G	12: 75,991,859 (GRCm39)	D1941E	probably benign	Het
Thsd4	C	A	9: 59,879,741 (GRCm39)	A639S	possibly 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
R4866:Lvrn	UTSW	18	47,026,768 (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
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'- AGTTACAAACTGCTTCATGTGG -3'
(R):5'- GCACACAACTCTCTCAGTAGTAG -3'

Sequencing Primer
(F):5'- TGTGAGACACTAGCCCTGGAG -3'
(R):5'- CTCTTTCACAAATATGGAAGCC -3'

Posted On

2016-10-26