Mutagenetix > Incidental Mutation

Incidental Mutation 'R0456:Lvrn'

40057

Institutional Source

Beutler Lab

Gene Symbol

Lvrn

Ensembl Gene

ENSMUSG00000024481

Gene Name

laeverin

Synonyms

4833403I15Rik, Aqpep

MMRRC Submission

038656-MU

Accession Numbers

Essential gene?

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

Stock #

R0456 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46983105-47040309 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 46997883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025358 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000025358

SMART Domains

Protein: ENSMUSP00000025358
Gene: ENSMUSG00000024481

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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	G	A	18: 12,429,036 (GRCm39)	P11L	probably damaging	Het
Antxr1	A	C	6: 87,194,257 (GRCm39)	V347G	probably damaging	Het
Atp13a5	T	C	16: 29,051,492 (GRCm39)	N1127D	probably benign	Het
Bivm	T	A	1: 44,165,969 (GRCm39)	W140R	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ceacam5	T	C	7: 17,494,776 (GRCm39)	V928A	possibly damaging	Het
Chia1	T	C	3: 106,035,795 (GRCm39)	Y152H	probably damaging	Het
Chsy3	A	T	18: 59,309,550 (GRCm39)	I268F	probably damaging	Het
CK137956	A	T	4: 127,839,100 (GRCm39)	N439K	probably damaging	Het
Csf3r	C	A	4: 125,929,654 (GRCm39)	N392K	probably damaging	Het
Cyp1b1	T	C	17: 80,017,704 (GRCm39)	I484V	probably benign	Het
Dsc1	T	C	18: 20,232,169 (GRCm39)	K280E	probably damaging	Het
Eefsec	A	G	6: 88,274,870 (GRCm39)	Y365H	probably benign	Het
Epb41l4b	C	T	4: 57,142,843 (GRCm39)		probably null	Het
Erap1	G	A	13: 74,812,339 (GRCm39)	V385I	probably benign	Het
Fat1	A	T	8: 45,482,571 (GRCm39)	I3077F	probably damaging	Het
Fras1	T	G	5: 96,862,202 (GRCm39)		probably null	Het
Fras1	G	T	5: 96,702,647 (GRCm39)	G230C	probably damaging	Het
Gsg1l	A	G	7: 125,522,682 (GRCm39)	M182T	possibly damaging	Het
Gzmg	A	G	14: 56,395,779 (GRCm39)	V60A	probably damaging	Het
H4c6	T	C	13: 23,735,561 (GRCm39)	D86G	probably damaging	Het
Hapln4	A	T	8: 70,537,645 (GRCm39)	Y113F	probably benign	Het
Ikzf4	T	A	10: 128,471,677 (GRCm39)	T274S	probably damaging	Het
Kansl1l	T	A	1: 66,774,885 (GRCm39)	H302L	probably damaging	Het
Klhl41	T	C	2: 69,500,893 (GRCm39)	V118A	probably damaging	Het
Kpna1	T	C	16: 35,823,270 (GRCm39)	S41P	possibly damaging	Het
Krt23	A	G	11: 99,377,604 (GRCm39)	V134A	probably benign	Het
Lamb1	G	A	12: 31,354,729 (GRCm39)	C992Y	probably damaging	Het
Lrif1	C	T	3: 106,639,094 (GRCm39)	P35S	probably benign	Het
Lrrc4	A	G	6: 28,831,103 (GRCm39)	S171P	probably damaging	Het
Matr3	T	A	18: 35,705,917 (GRCm39)	F281I	probably damaging	Het
Meak7	A	T	8: 120,495,162 (GRCm39)	F199I	probably damaging	Het
Nxn	G	A	11: 76,153,963 (GRCm39)	Q291*	probably null	Het
Or5b113	A	G	19: 13,342,102 (GRCm39)	T37A	probably damaging	Het
Pdp2	G	T	8: 105,320,421 (GRCm39)	R90L	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,291 (GRCm39)	E160*	probably null	Het
Ppp2r5c	T	G	12: 110,489,013 (GRCm39)	S118R	probably damaging	Het
Ptpn23	G	T	9: 110,218,861 (GRCm39)		probably null	Het
Ptpro	G	T	6: 137,391,228 (GRCm39)	V783L	probably benign	Het
Rab40c	A	G	17: 26,103,631 (GRCm39)	V144A	possibly damaging	Het
Rasal2	T	C	1: 156,977,413 (GRCm39)	N1087S	probably damaging	Het
Rfc3	T	A	5: 151,570,988 (GRCm39)	S103C	possibly damaging	Het
Rgl2	A	G	17: 34,155,823 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rit2	A	T	18: 31,108,504 (GRCm39)	F160L	probably benign	Het
Rnh1	A	G	7: 140,742,461 (GRCm39)	S366P	possibly damaging	Het
Sdk2	T	C	11: 113,682,292 (GRCm39)	Y2029C	possibly damaging	Het
Smpd3	T	A	8: 106,986,288 (GRCm39)	I505F	probably benign	Het
Sorcs3	A	T	19: 48,642,483 (GRCm39)	S379C	possibly damaging	Het
Sult1e1	A	G	5: 87,726,493 (GRCm39)	L207P	possibly damaging	Het
Sycp2	C	G	2: 178,023,648 (GRCm39)	S456T	probably benign	Het
Syne1	T	C	10: 5,292,252 (GRCm39)	T1339A	probably benign	Het
Tas2r117	A	G	6: 132,780,354 (GRCm39)	N164S	probably benign	Het
Tigd3	A	G	19: 5,942,821 (GRCm39)	L103P	probably damaging	Het
Tmem132b	T	C	5: 125,864,788 (GRCm39)	S965P	probably damaging	Het
Tmem82	T	C	4: 141,344,701 (GRCm39)	T81A	probably benign	Het
Tmem8b	A	G	4: 43,685,618 (GRCm39)	T156A	probably benign	Het
Tnfrsf21	A	G	17: 43,348,982 (GRCm39)	E198G	probably benign	Het
Tnpo2	A	G	8: 85,781,045 (GRCm39)	N767S	probably damaging	Het
Trf	T	C	9: 103,104,102 (GRCm39)	Y87C	probably damaging	Het
Tst	A	G	15: 78,289,780 (GRCm39)	V85A	probably damaging	Het
Usp37	A	T	1: 74,507,507 (GRCm39)	N503K	probably damaging	Het
Utp20	C	T	10: 88,590,435 (GRCm39)	M2346I	possibly damaging	Het
Vax2	A	G	6: 83,688,388 (GRCm39)	D37G	probably benign	Het
Vmn1r77	T	A	7: 11,775,665 (GRCm39)	L79*	probably null	Het
Zbtb3	A	T	19: 8,780,564 (GRCm39)	D59V	probably damaging	Het
Zdhhc13	T	C	7: 48,458,602 (GRCm39)	F182S	probably benign	Het
Zfp426	A	G	9: 20,381,593 (GRCm39)	F465L	probably damaging	Het
Zfp526	A	G	7: 24,925,637 (GRCm39)	E632G	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
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
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'- GTATTTCAGAGCCCTGGTAGCGAC -3'
(R):5'- GACAGTTTACAGTGGCTCAGCTCC -3'

Sequencing Primer
(F):5'- CCCTGGTAGCGACTCAAATG -3'
(R):5'- GCTCTAATTAATGGGCAGGCAC -3'

Posted On

2013-05-23