Mutagenetix > Incidental Mutation

Incidental Mutation 'R5488:Lao1'

430450

Institutional Source

Beutler Lab

Gene Symbol

Lao1

Ensembl Gene

ENSMUSG00000024903

Gene Name

L-amino acid oxidase 1

Synonyms

MMRRC Submission

043049-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5488 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118819164-118826107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118824566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 216 (E216G)

Ref Sequence

ENSEMBL: ENSMUSP00000062834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058651]

AlphaFold

B1ARV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000058651
AA Change: E216G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062834
Gene: ENSMUSG00000024903
AA Change: E216G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Pyr_redox_2	39	133	1.9e-8	PFAM
Pfam:HI0933_like	58	98	2.2e-7	PFAM
Pfam:FAD_binding_2	59	99	2.2e-7	PFAM
Pfam:Pyr_redox	59	106	5.4e-7	PFAM
Pfam:NAD_binding_8	62	129	8.1e-15	PFAM
Pfam:Amino_oxidase	67	509	3.1e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145395

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 95.1%
20x: 90.5%

Validation Efficiency

97% (58/60)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele show alterations in the free amino acid composition and antibacterial activity of milk and increased susceptibility to intramammary bacterial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,851,473 (GRCm39)	V817D	probably damaging	Het
Abca5	A	G	11: 110,183,009 (GRCm39)	V1016A	probably benign	Het
Ano2	G	T	6: 126,016,216 (GRCm39)	M916I	possibly damaging	Het
Aqr	T	C	2: 113,963,554 (GRCm39)	N632S	probably damaging	Het
Cd48	G	A	1: 171,523,273 (GRCm39)	V39I	possibly damaging	Het
Cdcp3	A	G	7: 130,848,324 (GRCm39)	D710G	probably damaging	Het
Cdk17	A	G	10: 93,068,274 (GRCm39)	T344A	probably damaging	Het
Chd8	A	T	14: 52,450,505 (GRCm39)		probably benign	Het
Col4a1	A	T	8: 11,362,550 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,258,318 (GRCm39)	R579H	probably damaging	Het
Cripto	G	A	9: 110,772,265 (GRCm39)	R44C	probably benign	Het
Cyp2c69	T	G	19: 39,839,603 (GRCm39)	Q340P	probably null	Het
D630003M21Rik	T	A	2: 158,058,941 (GRCm39)	T320S	probably benign	Het
D630045J12Rik	A	T	6: 38,173,782 (GRCm39)	S129T	possibly damaging	Het
Eif4a3l1	C	G	6: 136,306,555 (GRCm39)	R339G	probably damaging	Het
Fam13a	A	T	6: 59,001,303 (GRCm39)	L8Q	probably null	Het
Fam83b	T	C	9: 76,452,881 (GRCm39)	N62S	probably benign	Het
Foxred1	A	T	9: 35,121,266 (GRCm39)	V94E	probably damaging	Het
Gprc5a	T	C	6: 135,055,868 (GRCm39)	V105A	probably damaging	Het
Gvin3	T	A	7: 106,200,797 (GRCm39)		noncoding transcript	Het
Itga2	A	T	13: 114,979,971 (GRCm39)	W1077R	probably damaging	Het
Kat6b	A	G	14: 21,719,332 (GRCm39)	D1228G	probably damaging	Het
Kctd3	A	G	1: 188,713,563 (GRCm39)	Y391H	probably damaging	Het
Kdelr2	T	A	5: 143,389,784 (GRCm39)	I23N	probably damaging	Het
Kmt2a	A	T	9: 44,752,335 (GRCm39)		probably benign	Het
Mark4	G	T	7: 19,163,532 (GRCm39)		probably null	Het
Mcm10	A	G	2: 4,996,929 (GRCm39)	W851R	probably damaging	Het
Mettl21e	T	C	1: 44,257,276 (GRCm39)	Y14C	probably benign	Het
Miga1	CACAACAACAACAACAACA	CACAACAACAACAACA	3: 152,039,083 (GRCm39)		probably benign	Het
Mmp20	A	G	9: 7,643,958 (GRCm39)		probably null	Het
Nlrp5	A	T	7: 23,117,359 (GRCm39)	D361V	probably benign	Het
Nrip3	T	C	7: 109,361,045 (GRCm39)	T210A	probably damaging	Het
Or12d2	T	C	17: 37,624,559 (GRCm39)	T239A	probably damaging	Het
Or52s1b	T	C	7: 102,822,658 (GRCm39)	Y62C	probably damaging	Het
Pcdh10	G	A	3: 45,335,803 (GRCm39)	G706S	probably damaging	Het
Pdzd2	G	A	15: 12,382,762 (GRCm39)	P1197L	probably benign	Het
Pfkfb3	T	C	2: 11,489,480 (GRCm39)	S273G	probably benign	Het
Pkn3	T	C	2: 29,978,596 (GRCm39)		probably null	Het
Rab40c	G	A	17: 26,109,643 (GRCm39)	T78I	probably damaging	Het
Rec8	A	T	14: 55,860,283 (GRCm39)	Q291L	probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sart3	A	G	5: 113,909,441 (GRCm39)	W86R	probably damaging	Het
Slc6a11	A	G	6: 114,220,855 (GRCm39)	D462G	probably damaging	Het
Syne2	A	G	12: 75,934,946 (GRCm39)	T143A	probably benign	Het
Tardbp	A	G	4: 148,703,097 (GRCm39)	F289S	probably benign	Het
Tdpoz1	T	A	3: 93,577,974 (GRCm39)	Y270F	possibly damaging	Het
Tmem117	ACCC	ACC	15: 94,992,698 (GRCm39)		probably null	Het
Trim43a	A	T	9: 88,464,229 (GRCm39)	I47F	probably damaging	Het
Vim	A	T	2: 13,580,392 (GRCm39)	T202S	probably benign	Het
Vps13b	A	T	15: 35,770,688 (GRCm39)	I2044L	probably benign	Het
Wdr5	T	G	2: 27,415,165 (GRCm39)	D192E	probably damaging	Het
Zmym2	A	G	14: 57,193,712 (GRCm39)	K1176E	possibly damaging	Het

Other mutations in Lao1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02105:Lao1	APN	4	118,825,640 (GRCm39)	missense	probably damaging	0.97
IGL02252:Lao1	APN	4	118,824,613 (GRCm39)	missense	probably benign	0.19
R0139:Lao1	UTSW	4	118,821,399 (GRCm39)	missense	probably benign	0.06
R0541:Lao1	UTSW	4	118,820,999 (GRCm39)	missense	probably benign	0.03
R0635:Lao1	UTSW	4	118,825,493 (GRCm39)	missense	probably benign	0.04
R1164:Lao1	UTSW	4	118,822,602 (GRCm39)	missense	probably benign	0.00
R4465:Lao1	UTSW	4	118,822,504 (GRCm39)	missense	probably benign	0.10
R4767:Lao1	UTSW	4	118,825,185 (GRCm39)	missense	probably damaging	1.00
R4950:Lao1	UTSW	4	118,822,572 (GRCm39)	missense	probably damaging	1.00
R5061:Lao1	UTSW	4	118,824,673 (GRCm39)	missense	probably benign	0.00
R5644:Lao1	UTSW	4	118,822,433 (GRCm39)	splice site	probably null
R6176:Lao1	UTSW	4	118,819,197 (GRCm39)	start codon destroyed	probably null	0.40
R6189:Lao1	UTSW	4	118,825,077 (GRCm39)	missense	probably benign	0.00
R6857:Lao1	UTSW	4	118,821,023 (GRCm39)	critical splice donor site	probably null
R6859:Lao1	UTSW	4	118,820,948 (GRCm39)	missense	probably damaging	0.99
R7074:Lao1	UTSW	4	118,825,382 (GRCm39)	missense	probably damaging	1.00
R7878:Lao1	UTSW	4	118,824,619 (GRCm39)	missense	probably benign	0.00
R8021:Lao1	UTSW	4	118,825,674 (GRCm39)	missense	probably damaging	0.99
R8787:Lao1	UTSW	4	118,825,565 (GRCm39)	missense	probably damaging	0.97
X0021:Lao1	UTSW	4	118,825,719 (GRCm39)	missense	probably benign	0.00
Z1176:Lao1	UTSW	4	118,825,637 (GRCm39)	missense	probably damaging	1.00
Z1177:Lao1	UTSW	4	118,825,568 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAATAAGCTGACTTATCACAGG -3'
(R):5'- TGAATACACAGCCCCGTGTC -3'

Sequencing Primer
(F):5'- TGACTTATCACAGGAAACCCTCATTC -3'
(R):5'- ACAGCCCCGTGTCAGACTTTG -3'

Posted On

2016-10-05