Mutagenetix > Incidental Mutation

Incidental Mutation 'R6859:Lao1'

537795

Institutional Source

Beutler Lab

Gene Symbol

Lao1

Ensembl Gene

ENSMUSG00000024903

Gene Name

L-amino acid oxidase 1

Synonyms

MMRRC Submission

044961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118819164-118826107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 118820948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 58 (K58T)

Ref Sequence

ENSEMBL: ENSMUSP00000062834 (fasta)

Gene Model

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

AlphaFold

B1ARV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000058651
AA Change: K58T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062834
Gene: ENSMUSG00000024903
AA Change: K58T

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (42/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,669,799 (GRCm39)	V788A	possibly damaging	Het
Abca15	A	T	7: 120,002,217 (GRCm39)	K1577*	probably null	Het
Arhgap12	T	C	18: 6,111,803 (GRCm39)	E187G	probably damaging	Het
Arhgef10	T	A	8: 15,025,005 (GRCm39)	Y398N	probably damaging	Het
Baz2b	C	T	2: 59,731,874 (GRCm39)	V2055I	probably benign	Het
Btnl4	T	C	17: 34,688,353 (GRCm39)	D475G	probably damaging	Het
C1qtnf12	T	A	4: 156,050,070 (GRCm39)	F190Y	probably damaging	Het
Cacul1	A	G	19: 60,522,683 (GRCm39)	S284P	probably damaging	Het
Ccdc166	C	A	15: 75,853,820 (GRCm39)	V87L	possibly damaging	Het
Ceacam13	C	T	7: 17,747,032 (GRCm39)	P162S	probably damaging	Het
Cep250	T	A	2: 155,834,446 (GRCm39)	S2124T	probably benign	Het
Chd5	T	C	4: 152,462,664 (GRCm39)	S1372P	probably damaging	Het
Chil3	C	A	3: 106,067,730 (GRCm39)	R145L	probably benign	Het
Cyp4f40	T	C	17: 32,894,923 (GRCm39)	S454P	probably benign	Het
Defa3	T	A	8: 21,778,213 (GRCm39)	C66S	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Glmp	C	A	3: 88,235,349 (GRCm39)	N260K	probably benign	Het
Gsap	T	A	5: 21,486,016 (GRCm39)	L653Q	probably damaging	Het
Il18rap	T	A	1: 40,564,255 (GRCm39)	Y124*	probably null	Het
Lepr	T	A	4: 101,622,487 (GRCm39)		probably null	Het
Mrgpra3	G	C	7: 47,239,781 (GRCm39)	I48M	probably benign	Het
Nck2	T	G	1: 43,593,511 (GRCm39)	N239K	probably benign	Het
Optc	A	T	1: 133,825,554 (GRCm39)	V324E	possibly damaging	Het
Or12k7	A	T	2: 36,958,794 (GRCm39)	Y159F	probably damaging	Het
Or4p8	A	G	2: 88,727,278 (GRCm39)	I221T	probably benign	Het
Or51b6	G	A	7: 103,555,908 (GRCm39)	W84*	probably null	Het
Otog	T	C	7: 45,923,205 (GRCm39)	S1027P	probably damaging	Het
Plbd2	A	G	5: 120,641,407 (GRCm39)	F84L	probably benign	Het
Plxnb1	T	C	9: 108,935,838 (GRCm39)	L110P	probably damaging	Het
Prnp	T	C	2: 131,778,708 (GRCm39)	V120A	possibly damaging	Het
Ptprh	C	A	7: 4,552,370 (GRCm39)	E965*	probably null	Het
Reln	T	C	5: 22,239,568 (GRCm39)	T900A	probably damaging	Het
Stt3a	A	G	9: 36,646,682 (GRCm39)	Y644H	probably damaging	Het
Sulf2	A	G	2: 165,929,039 (GRCm39)	Y311H	probably damaging	Het
Tbc1d32	A	T	10: 56,056,626 (GRCm39)	I438N	probably damaging	Het
Tbcd	T	C	11: 121,387,937 (GRCm39)	V356A	possibly damaging	Het
Tecta	T	C	9: 42,303,425 (GRCm39)	N69S	probably damaging	Het
Topaz1	T	C	9: 122,631,023 (GRCm39)	V1618A	probably benign	Het
Usp48	C	T	4: 137,352,587 (GRCm39)	T627I	possibly damaging	Het
Vcl	T	C	14: 21,037,143 (GRCm39)	V247A	probably damaging	Het
Vmn2r59	A	G	7: 41,693,277 (GRCm39)	L441P	probably damaging	Het
Zfp869	C	T	8: 70,159,175 (GRCm39)	G466D	probably 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
R5488:Lao1	UTSW	4	118,824,566 (GRCm39)	missense	probably damaging	1.00
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
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'- ACGAGGTCCTCATCTGACTG -3'
(R):5'- GCCGGTACACTCAATTGTGC -3'

Sequencing Primer
(F):5'- TTGGCTCAGGGAAGACCAC -3'
(R):5'- CACTCAATTGTGCATTGTCAGGCTAG -3'

Posted On

2018-10-18