Mutagenetix > Incidental Mutation

Incidental Mutation 'R5167:Lvrn'

397370

Institutional Source

Beutler Lab

Gene Symbol

Lvrn

Ensembl Gene

ENSMUSG00000024481

Gene Name

laeverin

Synonyms

4833403I15Rik, Aqpep

MMRRC Submission

042747-MU

Accession Numbers

Essential gene?

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

Stock #

R5167 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46983105-47040309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47013814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 499 (Y499N)

Ref Sequence

ENSEMBL: ENSMUSP00000025358 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025358
AA Change: Y499N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025358
Gene: ENSMUSG00000024481
AA Change: Y499N

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,862,656 (GRCm39)	Y113N	probably damaging	Het
Bcan	G	T	3: 87,901,514 (GRCm39)	S396Y	probably damaging	Het
Calm3	T	C	7: 16,651,626 (GRCm39)	D21G	probably damaging	Het
Cldn23	C	T	8: 36,293,474 (GRCm39)	V5M	possibly damaging	Het
D630003M21Rik	A	G	2: 158,047,665 (GRCm39)	S735P	probably damaging	Het
Dscaml1	T	C	9: 45,628,730 (GRCm39)	Y1095H	probably damaging	Het
Esr2	T	C	12: 76,170,048 (GRCm39)	T427A	probably benign	Het
Fbxo28	T	C	1: 182,145,558 (GRCm39)	I177V	possibly damaging	Het
Fubp1	T	C	3: 151,926,989 (GRCm39)	L372P	possibly damaging	Het
Glis1	G	A	4: 107,491,891 (GRCm39)	G585E	probably damaging	Het
Gm7258	T	C	7: 128,197,791 (GRCm39)		noncoding transcript	Het
Hecw1	C	T	13: 14,460,242 (GRCm39)	R613Q	probably damaging	Het
Kif13b	T	C	14: 65,010,384 (GRCm39)	S1228P	probably damaging	Het
Knl1	A	G	2: 118,900,512 (GRCm39)	I738V	probably damaging	Het
Lig1	T	A	7: 13,044,983 (GRCm39)	V892D	probably damaging	Het
Ly9	C	A	1: 171,432,773 (GRCm39)	W80L	probably damaging	Het
Lypd5	T	C	7: 24,051,889 (GRCm39)	V68A	possibly damaging	Het
Ngdn	C	T	14: 55,259,656 (GRCm39)	Q236*	probably null	Het
Nudt7	C	A	8: 114,878,567 (GRCm39)	C154*	probably null	Het
Obi1	A	G	14: 104,716,223 (GRCm39)	S717P	probably damaging	Het
Or14j10	C	A	17: 37,934,642 (GRCm39)	E295*	probably null	Het
Or4f14b	A	T	2: 111,775,447 (GRCm39)	M118K	probably damaging	Het
Or5b117	T	A	19: 13,431,741 (GRCm39)	I47F	probably damaging	Het
Paxbp1	A	G	16: 90,819,555 (GRCm39)		probably null	Het
Pcnt	G	T	10: 76,256,258 (GRCm39)	Q661K	probably damaging	Het
Plekha1	G	A	7: 130,487,179 (GRCm39)		probably null	Het
Polr1c	G	T	17: 46,558,635 (GRCm39)		probably benign	Het
Rac3	A	G	11: 120,613,421 (GRCm39)	D58G	probably null	Het
Rgl2	C	T	17: 34,154,948 (GRCm39)	R203*	probably null	Het
Ryr1	T	C	7: 28,767,118 (GRCm39)	D2948G	probably damaging	Het
Serpina12	A	T	12: 104,004,179 (GRCm39)	L151Q	probably damaging	Het
Sf3a1	T	C	11: 4,127,456 (GRCm39)	V594A	possibly damaging	Het
Spdl1	G	T	11: 34,704,187 (GRCm39)	H549N	possibly damaging	Het
Srp68	C	A	11: 116,156,300 (GRCm39)	E147D	probably damaging	Het
Zfp352	A	G	4: 90,112,453 (GRCm39)	T198A	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
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'- TAACCCTTGAAAGTTAATGTGGCTC -3'
(R):5'- TGGCTGAGTTGGTAAAGGAC -3'

Sequencing Primer
(F):5'- AGTTAATGTGGCTCAATCTTTTCC -3'
(R):5'- AGGACCCAATATCTAATATGACCAC -3'

Posted On

2016-07-06