Mutagenetix > Incidental Mutation

Incidental Mutation 'R0658:Lox'

62630

Institutional Source

Beutler Lab

Gene Symbol

Lox

Ensembl Gene

ENSMUSG00000024529

Gene Name

lysyl oxidase

Synonyms

ras recision gene (rrg), TSC-160

MMRRC Submission

038843-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0658 (G1)

Quality Score

185

Status

Validated

Chromosome

Chromosomal Location

52649139-52662939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52661955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 149 (S149R)

Ref Sequence

ENSEMBL: ENSMUSP00000129247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025409] [ENSMUST00000171470]

AlphaFold

P28301

Predicted Effect

probably benign
Transcript: ENSMUST00000025409
AA Change: S149R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025409
Gene: ENSMUSG00000024529
AA Change: S149R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	107	116	N/A	INTRINSIC
low complexity region	126	139	N/A	INTRINSIC
low complexity region	163	184	N/A	INTRINSIC
Pfam:Lysyl_oxidase	207	411	2.3e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171470
AA Change: S149R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129247
Gene: ENSMUSG00000024529
AA Change: S149R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	107	116	N/A	INTRINSIC
low complexity region	126	139	N/A	INTRINSIC
low complexity region	163	184	N/A	INTRINSIC
Pfam:Lysyl_oxidase	207	408	3.7e-96	PFAM

Meta Mutation Damage Score

0.0762

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: This gene encodes a precursor protein that belongs to the lysyl oxidase family of proteins. The secreted proprotein is proteolytically processed to an active mature peptide and a propeptide. This propeptide is thought to function in tumor suppression by inhibiting the Ras signaling pathway. The active enzyme plays a role in cross-linking of collagen and elastin and is essential for development of cardiovascular and respiratory systems, and development of skin and connective tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygous inactivation of this gene leads to altered arterial wall structure, aortic aneurysms, cardiovascular dysfunction, diaphragmatic hernia, and perinatal death. Abnormal development of the respiratory system, and elastic and collagen fiber abnormalities in the lung and skin are also observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,965,827 (GRCm39)		probably null	Het
Acsl3	A	G	1: 78,679,004 (GRCm39)	D520G	probably damaging	Het
Adgrl3	T	C	5: 81,796,560 (GRCm39)	V623A	probably benign	Het
Ak9	G	T	10: 41,223,218 (GRCm39)	V454L	probably damaging	Het
Alpk2	C	A	18: 65,482,558 (GRCm39)	K483N	probably damaging	Het
Arhgef12	T	C	9: 42,893,281 (GRCm39)	Y974C	probably damaging	Het
Armc8	C	T	9: 99,418,211 (GRCm39)		probably benign	Het
Atp2a2	C	T	5: 122,595,696 (GRCm39)		probably benign	Het
Atrn	T	C	2: 130,812,147 (GRCm39)		probably null	Het
Caps2	T	A	10: 112,039,943 (GRCm39)		probably benign	Het
Cep76	A	G	18: 67,756,374 (GRCm39)	S486P	probably damaging	Het
Cep97	C	T	16: 55,735,265 (GRCm39)	R583H	probably benign	Het
Cog7	A	G	7: 121,555,363 (GRCm39)		probably benign	Het
Commd5	T	A	15: 76,784,768 (GRCm39)	V55E	probably damaging	Het
Csmd3	A	T	15: 47,874,543 (GRCm39)	D684E	possibly damaging	Het
Ctxn2	T	C	2: 124,989,376 (GRCm39)	M1T	probably null	Het
Exph5	A	G	9: 53,288,775 (GRCm39)	D1952G	unknown	Het
Fmo2	A	T	1: 162,704,343 (GRCm39)	L521Q	possibly damaging	Het
Fryl	T	A	5: 73,222,702 (GRCm39)	T1960S	probably damaging	Het
G6pd2	T	C	5: 61,967,017 (GRCm39)	L264P	probably damaging	Het
Gne	A	T	4: 44,039,033 (GRCm39)	V647E	possibly damaging	Het
Grb14	G	A	2: 64,745,071 (GRCm39)	Q96*	probably null	Het
Gtf3c1	A	G	7: 125,298,134 (GRCm39)	F146L	probably damaging	Het
Gvin3	C	A	7: 106,202,093 (GRCm39)	V384L	possibly damaging	Het
Irak2	A	G	6: 113,615,525 (GRCm39)	Y6C	probably damaging	Het
Kel	T	A	6: 41,679,965 (GRCm39)	N75I	probably damaging	Het
Lgr4	T	A	2: 109,842,132 (GRCm39)	F706I	possibly damaging	Het
Lrrc66	T	G	5: 73,768,287 (GRCm39)	D218A	probably benign	Het
Luc7l	C	T	17: 26,485,296 (GRCm39)	R99W	probably damaging	Het
Megf10	T	C	18: 57,385,968 (GRCm39)	V327A	probably benign	Het
Mthfd1l	G	T	10: 3,997,976 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myh8	G	T	11: 67,175,358 (GRCm39)		probably null	Het
Or5b109	A	T	19: 13,212,424 (GRCm39)	D270V	possibly damaging	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pgf	C	T	12: 85,216,159 (GRCm39)	R153K	probably benign	Het
Pramel12	A	T	4: 143,144,170 (GRCm39)	Q172L	probably damaging	Het
Prdm2	A	G	4: 142,861,835 (GRCm39)	V485A	probably damaging	Het
Rag1	T	C	2: 101,473,028 (GRCm39)	T705A	probably damaging	Het
Rflna	A	C	5: 125,080,774 (GRCm39)	D48A	possibly damaging	Het
Rnf148	A	T	6: 23,654,456 (GRCm39)	I180N	probably damaging	Het
Rtn4	T	A	11: 29,656,475 (GRCm39)	S94T	probably damaging	Het
Scn11a	G	A	9: 119,640,226 (GRCm39)	T223I	probably benign	Het
Scube2	T	A	7: 109,436,327 (GRCm39)		probably benign	Het
Septin14	T	C	5: 129,774,972 (GRCm39)	I68V	probably benign	Het
Sil1	A	T	18: 35,399,910 (GRCm39)	L365Q	possibly damaging	Het
Sirt1	A	G	10: 63,157,515 (GRCm39)		probably benign	Het
Slc9a1	T	C	4: 133,147,810 (GRCm39)		probably benign	Het
Smpdl3a	A	G	10: 57,687,336 (GRCm39)	T355A	probably damaging	Het
Syne2	T	C	12: 76,141,110 (GRCm39)	I6074T	probably damaging	Het
Thbs2	T	A	17: 14,900,587 (GRCm39)	H540L	probably benign	Het
Tsc22d4	T	C	5: 137,766,283 (GRCm39)	S450P	probably benign	Het
Tshr	C	A	12: 91,505,000 (GRCm39)	S54*	probably null	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Uncx	G	T	5: 139,529,942 (GRCm39)	C65F	probably damaging	Het
Vmn1r87	A	T	7: 12,865,756 (GRCm39)	M177K	probably damaging	Het
Vmn2r56	A	T	7: 12,444,235 (GRCm39)	C466S	probably benign	Het
Wnk1	G	A	6: 119,925,466 (GRCm39)	P1831S	probably damaging	Het
Zfp820	T	C	17: 22,037,901 (GRCm39)	S476G	probably benign	Het

Other mutations in Lox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01752:Lox	APN	18	52,653,926 (GRCm39)	missense	possibly damaging	0.74
IGL02457:Lox	APN	18	52,654,388 (GRCm39)	missense	probably damaging	1.00
IGL02665:Lox	APN	18	52,658,316 (GRCm39)	splice site	probably benign
R0040:Lox	UTSW	18	52,653,898 (GRCm39)	missense	possibly damaging	0.91
R0383:Lox	UTSW	18	52,662,271 (GRCm39)	missense	possibly damaging	0.50
R1391:Lox	UTSW	18	52,661,891 (GRCm39)	missense	probably damaging	0.99
R1721:Lox	UTSW	18	52,653,983 (GRCm39)	critical splice acceptor site	probably null
R1794:Lox	UTSW	18	52,661,379 (GRCm39)	missense	probably damaging	1.00
R3122:Lox	UTSW	18	52,658,177 (GRCm39)	missense	probably damaging	0.97
R5436:Lox	UTSW	18	52,662,175 (GRCm39)	missense	probably benign
R5679:Lox	UTSW	18	52,661,989 (GRCm39)	missense	probably benign	0.00
R6739:Lox	UTSW	18	52,660,031 (GRCm39)	missense	possibly damaging	0.95
R7679:Lox	UTSW	18	52,658,178 (GRCm39)	missense	possibly damaging	0.80
R7840:Lox	UTSW	18	52,658,194 (GRCm39)	nonsense	probably null
R8015:Lox	UTSW	18	52,661,420 (GRCm39)	missense	probably benign	0.27
R9314:Lox	UTSW	18	52,653,911 (GRCm39)	missense	probably damaging	1.00
R9325:Lox	UTSW	18	52,661,400 (GRCm39)	missense	probably benign	0.00
Z1176:Lox	UTSW	18	52,653,906 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGTGCTTACCGTACTGGAAGTAAC -3'
(R):5'- AACAACGGGCAGGTGTTCAGTC -3'

Sequencing Primer
(F):5'- ATAATAGGGGTTGTCGTCGG -3'
(R):5'- TCTGCTGCGTGACAACC -3'

Posted On

2013-07-30