Mutagenetix > Incidental Mutation

Incidental Mutation 'R7168:Lvrn'

558089

Institutional Source

Beutler Lab

Gene Symbol

Lvrn

Ensembl Gene

ENSMUSG00000024481

Gene Name

laeverin

Synonyms

4833403I15Rik, Aqpep

MMRRC Submission

045263-MU

Accession Numbers

Essential gene?

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

Stock #

R7168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46983105-47040309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 47014389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 525 (K525T)

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: K525T

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025358
Gene: ENSMUSG00000024481
AA Change: K525T

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

0.0842

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,262,831 (GRCm39)	D1388V	probably damaging	Het
2900026A02Rik	C	A	5: 113,285,659 (GRCm39)	R65L	probably damaging	Het
Abcb10	A	T	8: 124,693,350 (GRCm39)	L318Q		Het
Abhd18	T	A	3: 40,889,371 (GRCm39)	V417D	probably damaging	Het
Actl7a	A	G	4: 56,743,769 (GRCm39)	K99E	probably benign	Het
Adam2	A	T	14: 66,296,241 (GRCm39)	I206N	possibly damaging	Het
Adgrv1	G	T	13: 81,545,328 (GRCm39)	S5652R	possibly damaging	Het
Aebp2	C	T	6: 140,579,426 (GRCm39)	T221M	probably damaging	Het
Ahi1	T	A	10: 20,893,831 (GRCm39)	M854K	probably benign	Het
Alpi	T	A	1: 87,027,155 (GRCm39)	T375S	possibly damaging	Het
Apip	T	A	2: 102,922,813 (GRCm39)	C210*	probably null	Het
Arid3b	A	T	9: 57,712,818 (GRCm39)	D232E	probably benign	Het
Asic5	G	A	3: 81,919,282 (GRCm39)	C342Y	probably damaging	Het
BC035947	T	C	1: 78,476,230 (GRCm39)	M101V	probably benign	Het
Brd3	G	A	2: 27,344,411 (GRCm39)	R440C	possibly damaging	Het
Deaf1	C	T	7: 140,904,509 (GRCm39)		probably benign	Het
Eif2ak3	A	G	6: 70,858,610 (GRCm39)	T300A	probably benign	Het
Eml6	T	A	11: 29,788,529 (GRCm39)	I519F	probably benign	Het
Fat4	T	C	3: 39,034,808 (GRCm39)	F2820S	probably damaging	Het
Fcho2	A	G	13: 98,925,971 (GRCm39)	I132T	probably benign	Het
Garnl3	A	G	2: 32,885,090 (GRCm39)	V810A	probably damaging	Het
Gm14403	A	C	2: 177,201,318 (GRCm39)	Q179P	probably damaging	Het
Gm3127	A	G	14: 15,432,250 (GRCm39)	M251V	probably benign	Het
Hook3	A	G	8: 26,561,114 (GRCm39)	S298P	probably benign	Het
Impact	T	A	18: 13,119,370 (GRCm39)		probably null	Het
Itgal	T	C	7: 126,929,385 (GRCm39)	F1101L	probably benign	Het
Itih1	C	T	14: 30,656,064 (GRCm39)	R579Q	probably null	Het
Kansl2	T	C	15: 98,427,425 (GRCm39)		probably null	Het
Kng1	A	G	16: 22,898,391 (GRCm39)	D597G	probably benign	Het
Kpna1	A	G	16: 35,836,332 (GRCm39)		probably benign	Het
Lama2	C	T	10: 27,242,148 (GRCm39)		probably null	Het
Ltbp1	G	T	17: 75,598,361 (GRCm39)	C614F	probably damaging	Het
Luc7l3	T	C	11: 94,190,810 (GRCm39)	E168G	unknown	Het
Mdn1	G	A	4: 32,719,184 (GRCm39)	R2249H	probably damaging	Het
Mmp16	G	T	4: 18,110,550 (GRCm39)	G449C	probably damaging	Het
Mst1r	T	C	9: 107,785,392 (GRCm39)	V350A	probably benign	Het
Muc5b	A	G	7: 141,417,754 (GRCm39)	M3567V	probably benign	Het
Mybl1	A	T	1: 9,748,513 (GRCm39)	L361Q	probably damaging	Het
Myom1	T	A	17: 71,396,942 (GRCm39)	S1063R	probably benign	Het
Notch4	A	C	17: 34,791,667 (GRCm39)	H582P	probably benign	Het
Nwd2	T	A	5: 63,964,837 (GRCm39)	C1474S	probably benign	Het
Or10ak14	A	T	4: 118,611,048 (GRCm39)	I231N	probably damaging	Het
Or4g17	A	T	2: 111,210,224 (GRCm39)	D293V	probably damaging	Het
Or5d36	A	C	2: 87,900,921 (GRCm39)	N268K	probably benign	Het
Or8b40	G	T	9: 38,027,959 (GRCm39)	S294I	probably damaging	Het
Pcmt1	A	T	10: 7,513,946 (GRCm39)	V241D	probably damaging	Het
Plcl1	T	A	1: 55,736,622 (GRCm39)	N654K	probably damaging	Het
Plg	G	A	17: 12,607,446 (GRCm39)	G121D	probably damaging	Het
Ptch1	A	G	13: 63,659,874 (GRCm39)	S1260P	probably benign	Het
Pwp1	G	T	10: 85,720,401 (GRCm39)	R346I	probably damaging	Het
R3hdm1	C	T	1: 128,144,232 (GRCm39)	T800I	probably benign	Het
Rab3gap2	A	G	1: 184,936,494 (GRCm39)	D19G	possibly damaging	Het
Resf1	T	G	6: 149,229,341 (GRCm39)	F796V	probably benign	Het
Slc1a3	G	T	15: 8,675,386 (GRCm39)	N206K	possibly damaging	Het
Slc6a3	T	C	13: 73,719,591 (GRCm39)	V540A	probably benign	Het
Sntb1	G	A	15: 55,654,661 (GRCm39)	P265S	probably benign	Het
Timm29	T	C	9: 21,504,749 (GRCm39)	V139A	probably damaging	Het
Tktl2	A	G	8: 66,965,753 (GRCm39)	E437G	probably damaging	Het
Tm2d3	T	A	7: 65,343,674 (GRCm39)	V56E	probably benign	Het
Trhr2	T	A	8: 123,087,276 (GRCm39)	T55S	probably damaging	Het
Trim17	T	G	11: 58,859,404 (GRCm39)	V206G	probably benign	Het
Trpm1	A	G	7: 63,918,445 (GRCm39)	N1479S	probably benign	Het
Trpv2	T	A	11: 62,473,914 (GRCm39)	C190S	probably benign	Het
Umod	A	T	7: 119,077,549 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,414,585 (GRCm39)	Y2862N		Het
Vmn1r158	A	G	7: 22,490,101 (GRCm39)	V36A	possibly damaging	Het
Zfp420	A	G	7: 29,574,791 (GRCm39)	Y337C	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
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
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
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'- ACCCGGGGCTAATTTGAACAG -3'
(R):5'- GTTAGTGCTCAGCAAGAAAGTG -3'

Sequencing Primer
(F):5'- CCGGGGCTAATTTGAACAGGAAATTC -3'
(R):5'- GTCTGAAAGGGACAATTACCATTTG -3'

Posted On

2019-06-26