Mutagenetix > Incidental Mutation

Incidental Mutation 'R8859:Loxl3'

675518

Institutional Source

Beutler Lab

Gene Symbol

Loxl3

Ensembl Gene

ENSMUSG00000000693

Gene Name

lysyl oxidase-like 3

Synonyms

Lor2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R8859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83034173-83052562 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83037545 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 145 (C145S)

Ref Sequence

ENSEMBL: ENSMUSP00000000707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000707] [ENSMUST00000089651] [ENSMUST00000101257] [ENSMUST00000149918]

AlphaFold

Q9Z175

Predicted Effect

probably damaging
Transcript: ENSMUST00000000707
AA Change: C145S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000707
Gene: ENSMUSG00000000693
AA Change: C145S

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
SR	45	146	2.1e-50	SMART
SR	170	283	1.09e-25	SMART
SR	308	408	3.72e-51	SMART
SR	418	526	8.5e-37	SMART
Pfam:Lysyl_oxidase	530	730	3.9e-103	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089651

SMART Domains

Protein: ENSMUSP00000087079
Gene: ENSMUSG00000068335

Domain	Start	End	E-Value	Type
PH	4	121	1.31e-8	SMART
IRS	151	254	1.21e-45	SMART
PTBI	152	254	3.84e-59	SMART
low complexity region	411	424	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000101257
AA Change: C145S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098815
Gene: ENSMUSG00000000693
AA Change: C145S

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
SR	45	146	2.1e-50	SMART
SR	170	283	1.09e-25	SMART
SR	308	396	5.46e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149918

Predicted Effect

probably benign
Transcript: ENSMUST00000204900

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (95/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality shortly after birth, craniofacial and vertebral abnormalities associated with collagen deformities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,378,397	Y3490F		Het
Abcc1	T	C	16: 14,396,361	V167A	probably benign	Het
Abcd2	G	A	15: 91,188,946	R337C	probably damaging	Het
Adcy1	A	G	11: 7,161,877	D914G	probably benign	Het
Ahnak	G	T	19: 9,007,203	L1950F	probably damaging	Het
Alox5ap	T	C	5: 149,265,184		probably null	Het
Ank	C	T	15: 27,562,748	H181Y	possibly damaging	Het
Ankrd44	T	A	1: 54,667,521	D592V	possibly damaging	Het
Ap4m1	T	A	5: 138,175,923	N185K	possibly damaging	Het
Arhgef28	T	A	13: 97,945,702	D1199V	probably damaging	Het
Arnt	T	C	3: 95,490,380		probably null	Het
Atcay	C	T	10: 81,224,464	V13M	probably benign	Het
B4galt3	T	C	1: 171,271,671	S2P	unknown	Het
Bicra	A	T	7: 15,987,812	S593R	possibly damaging	Het
Brsk2	A	C	7: 141,998,678	Q633P	probably damaging	Het
Cacna1c	T	A	6: 118,676,319	S909C		Het
Ccdc7a	G	A	8: 129,061,632	T72M	probably benign	Het
Cct2	A	T	10: 117,060,834	F155I	possibly damaging	Het
Cdv3	G	T	9: 103,356,395	P194T	probably damaging	Het
Cenpc1	A	T	5: 86,012,294	V895E	probably benign	Het
Cep170b	T	C	12: 112,736,447	V448A	probably benign	Het
Chil3	G	A	3: 106,164,124	R75C	possibly damaging	Het
Cnfn	A	T	7: 25,368,444	C24S	probably benign	Het
Cnga3	A	G	1: 37,260,771	K191E	possibly damaging	Het
Col12a1	A	T	9: 79,680,399	Y1153*	probably null	Het
Coq4	C	A	2: 29,795,479	H168Q	probably damaging	Het
Cyr61	T	C	3: 145,648,625	D177G	probably benign	Het
Dnajc14	G	A	10: 128,806,619	V137I	probably benign	Het
Efr3a	T	C	15: 65,854,765	L569P	probably damaging	Het
Epb41l3	A	T	17: 69,284,580	E677D	probably benign	Het
Esp8	G	A	17: 40,530,122	M91I	unknown	Het
Fubp1	A	T	3: 152,232,032		probably benign	Het
Gldc	G	T	19: 30,139,379	A391D	probably damaging	Het
Gm17728	A	G	17: 9,422,195	T46A	probably benign	Het
Gm5798	A	G	14: 41,350,646	K112E	probably damaging	Het
Gm884	A	C	11: 103,615,544	I1866S	unknown	Het
Gpnmb	A	G	6: 49,052,030		probably benign	Het
Grwd1	T	C	7: 45,825,874	T415A	probably benign	Het
Gsdma3	C	G	11: 98,631,260	A172G	possibly damaging	Het
Hltf	C	T	3: 20,065,402	Q204*	probably null	Het
Igf1r	T	G	7: 68,183,463	V457G	possibly damaging	Het
Inhbc	A	T	10: 127,357,115	M344K	probably damaging	Het
Jak3	C	T	8: 71,678,516	A60V	probably benign	Het
Kif13b	A	G	14: 64,742,433	T511A	probably benign	Het
Lama2	T	A	10: 27,459,388	N97I	possibly damaging	Het
Limd2	T	A	11: 106,158,750	D104V	probably damaging	Het
Lrrc73	A	G	17: 46,254,529	N62S	probably benign	Het
Lrrtm4	A	G	6: 80,021,887	D94G	probably damaging	Het
Lsm3	C	A	6: 91,522,270	F86L	probably damaging	Het
Map10	T	C	8: 125,670,552	V228A	probably benign	Het
Mcidas	A	C	13: 112,994,130	S54R	possibly damaging	Het
Me3	T	C	7: 89,806,668	Y243H	probably damaging	Het
Mgat4b	A	G	11: 50,230,847	T89A	possibly damaging	Het
Mmp16	T	A	4: 18,054,355		probably benign	Het
Mtmr9	G	A	14: 63,543,777		probably benign	Het
Myo1b	G	T	1: 51,797,039	A331E	probably damaging	Het
Ncoa6	C	T	2: 155,406,468	V1639M	possibly damaging	Het
Nek9	C	T	12: 85,306,346	G752R	probably damaging	Het
Nufip2	A	G	11: 77,693,243	Y661C	probably benign	Het
Olfr1490	T	A	19: 13,654,882	V151E	probably damaging	Het
Olfr354	C	T	2: 36,907,504	A186V	possibly damaging	Het
Olfr574	A	T	7: 102,949,166	I234F	probably damaging	Het
Olfr828	T	C	9: 18,815,696	I199M	possibly damaging	Het
Olfr972	G	A	9: 39,873,598	G108S	probably benign	Het
Oxct2a	A	G	4: 123,322,529	L353S	probably benign	Het
Parvg	A	G	15: 84,337,800	I243V	probably benign	Het
Pcdhgb7	C	A	18: 37,753,296	N506K	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Pgghg	G	A	7: 140,945,454		probably null	Het
Phrf1	G	T	7: 141,256,603	G263W	unknown	Het
Ppfia1	A	C	7: 144,479,025		probably null	Het
Ppp1r32	T	A	19: 10,482,235	Y36F	probably damaging	Het
Prss37	T	A	6: 40,514,963	I228F	probably damaging	Het
Ptpro	A	T	6: 137,426,784	K921*	probably null	Het
Rictor	T	G	15: 6,783,586	L940R	probably damaging	Het
Rp1	A	G	1: 4,349,960	S310P	probably benign	Het
Ryr3	A	G	2: 112,653,219	V4091A	probably damaging	Het
Sirt5	T	A	13: 43,370,851	M33K	possibly damaging	Het
Slc25a30	T	A	14: 75,771,477	Y90F	probably benign	Het
St5	T	A	7: 109,524,656	K1132M	probably damaging	Het
Stk11	G	A	10: 80,128,435	D388N	probably benign	Het
Tgm1	C	A	14: 55,712,229	R126L	probably benign	Het
Tmem110	T	A	14: 30,866,672	Y119N	probably damaging	Het
Tmem129	G	T	5: 33,654,493	T321N	probably benign	Het
Tnfrsf11a	A	T	1: 105,844,518		probably null	Het
Tor1aip1	A	G	1: 156,031,444	C195R	probably benign	Het
Tpr	A	G	1: 150,408,846	E428G	possibly damaging	Het
Trps1	T	A	15: 50,822,373	D802V	possibly damaging	Het
Usp17lc	T	A	7: 103,415,109	S6T	probably benign	Het
Vangl1	C	A	3: 102,158,442	R459L		Het
Vmn1r43	T	C	6: 89,869,955	Y183C	probably damaging	Het
Vmn2r110	C	T	17: 20,574,298	C703Y	probably damaging	Het
Vmn2r54	T	C	7: 12,629,775	Q397R	possibly damaging	Het
Vmn2r88	T	C	14: 51,418,806	V824A	probably damaging	Het
Vmn2r89	A	T	14: 51,455,713	Y79F	probably benign	Het
Vnn1	T	C	10: 23,904,586	S491P	probably benign	Het
Zbbx	A	G	3: 75,061,434	F572L	unknown	Het
Zc3h4	A	T	7: 16,435,014	Q1091L	unknown	Het
Zfp503	C	T	14: 21,987,218	V106I	possibly damaging	Het
Zfp874a	T	C	13: 67,442,528	T346A	probably benign	Het

Other mutations in Loxl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Loxl3	APN	6	83048766	unclassified	probably benign
IGL01370:Loxl3	APN	6	83049487	missense	probably damaging	1.00
IGL02126:Loxl3	APN	6	83048647	missense	probably damaging	1.00
IGL02128:Loxl3	APN	6	83050583	missense	probably damaging	1.00
R0241:Loxl3	UTSW	6	83050133	missense	probably damaging	1.00
R0241:Loxl3	UTSW	6	83050133	missense	probably damaging	1.00
R1725:Loxl3	UTSW	6	83035593	missense	probably benign	0.00
R1771:Loxl3	UTSW	6	83049909	missense	probably damaging	1.00
R2017:Loxl3	UTSW	6	83048977	missense	probably damaging	0.99
R2291:Loxl3	UTSW	6	83037488	missense	probably benign	0.07
R3731:Loxl3	UTSW	6	83050671	critical splice donor site	probably null
R4179:Loxl3	UTSW	6	83037584	missense	probably benign	0.00
R5230:Loxl3	UTSW	6	83035794	missense	probably benign	0.16
R5385:Loxl3	UTSW	6	83050612	missense	probably damaging	0.99
R5591:Loxl3	UTSW	6	83048037	missense	probably damaging	1.00
R5664:Loxl3	UTSW	6	83049882	missense	probably benign	0.12
R5769:Loxl3	UTSW	6	83050600	missense	probably damaging	0.98
R5771:Loxl3	UTSW	6	83035799	splice site	probably null
R5802:Loxl3	UTSW	6	83049289	missense	possibly damaging	0.67
R5831:Loxl3	UTSW	6	83049018	missense	probably benign	0.01
R5945:Loxl3	UTSW	6	83037511	missense	probably damaging	1.00
R6542:Loxl3	UTSW	6	83048166	missense	probably benign	0.00
R6687:Loxl3	UTSW	6	83050664	missense	probably damaging	1.00
R7961:Loxl3	UTSW	6	83050809	missense	possibly damaging	0.88
R8009:Loxl3	UTSW	6	83050809	missense	possibly damaging	0.88
R8122:Loxl3	UTSW	6	83049259	missense	probably damaging	1.00
R8278:Loxl3	UTSW	6	83048716	missense	probably damaging	1.00
R8373:Loxl3	UTSW	6	83048891	missense	possibly damaging	0.89
R8411:Loxl3	UTSW	6	83050624	missense	probably damaging	1.00
R8539:Loxl3	UTSW	6	83049526	missense	probably benign
R8684:Loxl3	UTSW	6	83035585	missense	probably benign	0.23
R8782:Loxl3	UTSW	6	83048070	missense	probably benign
R8801:Loxl3	UTSW	6	83048648	missense	probably damaging	1.00
R8864:Loxl3	UTSW	6	83035758	missense	probably damaging	0.99
R9031:Loxl3	UTSW	6	83035522	missense	probably damaging	1.00
R9081:Loxl3	UTSW	6	83048657	missense	possibly damaging	0.67
R9176:Loxl3	UTSW	6	83049311	missense	probably damaging	0.99
R9369:Loxl3	UTSW	6	83050412	missense	probably benign	0.26
R9634:Loxl3	UTSW	6	83050854	missense	probably benign	0.10
V1024:Loxl3	UTSW	6	83035738	missense	probably damaging	1.00
X0009:Loxl3	UTSW	6	83038480	missense	probably damaging	1.00
Z1177:Loxl3	UTSW	6	83038578	nonsense	probably null
Z1177:Loxl3	UTSW	6	83048160	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGCCACCATTACTGTCAGC -3'
(R):5'- ACTTTCCAAGTGTCCCAGAAATCC -3'

Sequencing Primer
(F):5'- AGCCATCCTCAAACACTTCTTG -3'
(R):5'- GTGTCCCAGAAATCCACATTATC -3'

Posted On

2021-07-15