Mutagenetix > Incidental Mutation

Incidental Mutation 'R1725:Loxl3'

198067

Institutional Source

Beutler Lab

Gene Symbol

Loxl3

Ensembl Gene

ENSMUSG00000000693

Gene Name

lysyl oxidase-like 3

Synonyms

Lor2

MMRRC Submission

039757-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R1725 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

83011186-83029547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83012574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 38 (V38I)

Ref Sequence

ENSEMBL: ENSMUSP00000098815 (fasta)

Gene Model

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

AlphaFold

Q9Z175

Predicted Effect

probably benign
Transcript: ENSMUST00000000707
AA Change: V38I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000000707
Gene: ENSMUSG00000000693
AA Change: V38I

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 benign
Transcript: ENSMUST00000101257
AA Change: V38I

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

SMART Domains

Protein: ENSMUSP00000098815
Gene: ENSMUSG00000000693
AA Change: V38I

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

noncoding transcript
Transcript: ENSMUST00000152679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204318

Predicted Effect

probably benign
Transcript: ENSMUST00000204900

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	T	16: 88,424,163 (GRCm39)	F109L	probably benign	Het
Aacs	T	C	5: 125,559,999 (GRCm39)		probably null	Het
Abcc6	C	A	7: 45,641,781 (GRCm39)	D866Y	possibly damaging	Het
Acox3	T	C	5: 35,749,516 (GRCm39)	Y214H	probably benign	Het
Acss2	A	G	2: 155,398,764 (GRCm39)	T404A	possibly damaging	Het
Adgrb3	T	A	1: 25,865,381 (GRCm39)	E154V	probably damaging	Het
Akap12	G	A	10: 4,303,942 (GRCm39)	V251M	probably damaging	Het
Ambp	A	T	4: 63,062,513 (GRCm39)	M242K	possibly damaging	Het
Angptl7	T	G	4: 148,584,469 (GRCm39)	Y93S	probably damaging	Het
Apof	A	G	10: 128,105,680 (GRCm39)		probably benign	Het
Arv1	T	C	8: 125,455,191 (GRCm39)	F135L	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Cacna1s	C	T	1: 136,026,361 (GRCm39)	T1116I	probably damaging	Het
Ccdc91	A	G	6: 147,493,541 (GRCm39)	E311G	unknown	Het
Cenpf	T	C	1: 189,412,676 (GRCm39)	T196A	probably damaging	Het
Chd8	A	T	14: 52,470,030 (GRCm39)	S527T	probably benign	Het
Csmd3	A	C	15: 47,460,203 (GRCm39)	N3529K	probably damaging	Het
Csnk2a1	T	C	2: 152,099,892 (GRCm39)	V116A	probably damaging	Het
Dhx36	T	G	3: 62,414,360 (GRCm39)	M1L	probably benign	Het
Diaph3	A	G	14: 87,203,759 (GRCm39)		probably null	Het
Ephb2	G	A	4: 136,387,089 (GRCm39)	Q714*	probably null	Het
Eprs1	T	A	1: 185,139,189 (GRCm39)	L858Q	probably damaging	Het
Espl1	G	T	15: 102,221,656 (GRCm39)	V982L	probably benign	Het
Eya2	A	G	2: 165,566,605 (GRCm39)	T219A	probably benign	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fbxl18	C	T	5: 142,872,458 (GRCm39)	R259H	probably damaging	Het
Gcc2	G	A	10: 58,139,937 (GRCm39)	R1629H	possibly damaging	Het
Gje1	G	A	10: 14,592,168 (GRCm39)	R205*	probably null	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,743,115 (GRCm39)		probably benign	Het
Krt6a	A	T	15: 101,600,992 (GRCm39)	M268K	probably damaging	Het
Loxhd1	T	A	18: 77,380,937 (GRCm39)	S85T	probably benign	Het
Mill2	A	G	7: 18,573,993 (GRCm39)	D26G	probably benign	Het
Muc15	T	C	2: 110,561,591 (GRCm39)	L9S	probably damaging	Het
Nat8f4	G	A	6: 85,878,080 (GRCm39)	R148*	probably null	Het
Nav3	A	T	10: 109,659,451 (GRCm39)	V722E	probably damaging	Het
Nfkb1	C	A	3: 135,373,519 (GRCm39)	G10W	probably damaging	Het
Or10j5	C	T	1: 172,784,908 (GRCm39)	P182L	possibly damaging	Het
Or2ag1	A	T	7: 106,313,265 (GRCm39)	F208I	probably benign	Het
Or2t1	T	G	14: 14,328,977 (GRCm38)	Y289D	probably damaging	Het
Or5b120	T	C	19: 13,479,883 (GRCm39)	Y59H	probably damaging	Het
Pcdhb22	T	A	18: 37,653,241 (GRCm39)	C313S	probably benign	Het
Plin4	A	G	17: 56,413,473 (GRCm39)	L384P	probably damaging	Het
Pm20d1	T	C	1: 131,743,796 (GRCm39)	I487T	probably damaging	Het
Prex1	A	T	2: 166,443,656 (GRCm39)	D334E	probably damaging	Het
Psg28	A	T	7: 18,161,936 (GRCm39)	I189N	possibly damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Rae1	A	G	2: 172,848,754 (GRCm39)	I123M	possibly damaging	Het
Sh3glb2	C	A	2: 30,240,679 (GRCm39)	E129*	probably null	Het
Simc1	T	C	13: 54,674,219 (GRCm39)	S856P	probably damaging	Het
Slc19a1	T	A	10: 76,877,672 (GRCm39)	M69K	probably benign	Het
Slc30a8	A	T	15: 52,197,000 (GRCm39)	I304F	possibly damaging	Het
Snx1	A	G	9: 66,005,611 (GRCm39)		probably null	Het
Spmip5	T	G	19: 58,781,194 (GRCm39)	K10T	probably benign	Het
Stx18	G	A	5: 38,292,599 (GRCm39)	V234M	probably damaging	Het
Sulf2	T	C	2: 165,923,281 (GRCm39)	T615A	probably damaging	Het
Sult3a2	T	A	10: 33,655,705 (GRCm39)	K91N	probably benign	Het
Tet1	A	G	10: 62,650,256 (GRCm39)	S22P	probably damaging	Het
Tmc3	T	C	7: 83,253,940 (GRCm39)	V362A	probably damaging	Het
Trim16	A	C	11: 62,711,331 (GRCm39)	M1L	possibly damaging	Het
Trp53bp1	C	T	2: 121,082,481 (GRCm39)	V10I	possibly damaging	Het
Ttc12	T	G	9: 49,369,415 (GRCm39)	D235A	probably benign	Het
Ttn	T	C	2: 76,692,727 (GRCm39)	R452G	possibly damaging	Het
Ugt2b38	A	T	5: 87,559,730 (GRCm39)	H387Q	probably damaging	Het
Usp48	T	A	4: 137,360,733 (GRCm39)	L20*	probably null	Het
Utrn	T	C	10: 12,539,263 (GRCm39)	D1918G	probably damaging	Het
Vmn1r158	A	G	7: 22,490,072 (GRCm39)	S46P	probably benign	Het
Vmn2r97	T	A	17: 19,149,397 (GRCm39)	W262R	probably benign	Het
Vps13d	A	T	4: 144,869,830 (GRCm39)	S1917T	possibly damaging	Het
Vsx1	T	C	2: 150,528,120 (GRCm39)	N158D	probably benign	Het
Vwf	G	A	6: 125,623,245 (GRCm39)	V1781I	probably benign	Het
Wrap73	T	C	4: 154,233,209 (GRCm39)	Y128H	possibly damaging	Het
Zfp472	A	G	17: 33,196,311 (GRCm39)	K129E	possibly damaging	Het
Zscan18	A	T	7: 12,504,784 (GRCm39)	L611Q	probably damaging	Het

Other mutations in Loxl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Loxl3	APN	6	83,025,747 (GRCm39)	unclassified	probably benign
IGL01370:Loxl3	APN	6	83,026,468 (GRCm39)	missense	probably damaging	1.00
IGL02126:Loxl3	APN	6	83,025,628 (GRCm39)	missense	probably damaging	1.00
IGL02128:Loxl3	APN	6	83,027,564 (GRCm39)	missense	probably damaging	1.00
R0241:Loxl3	UTSW	6	83,027,114 (GRCm39)	missense	probably damaging	1.00
R0241:Loxl3	UTSW	6	83,027,114 (GRCm39)	missense	probably damaging	1.00
R1771:Loxl3	UTSW	6	83,026,890 (GRCm39)	missense	probably damaging	1.00
R2017:Loxl3	UTSW	6	83,025,958 (GRCm39)	missense	probably damaging	0.99
R2291:Loxl3	UTSW	6	83,014,469 (GRCm39)	missense	probably benign	0.07
R3731:Loxl3	UTSW	6	83,027,652 (GRCm39)	critical splice donor site	probably null
R4179:Loxl3	UTSW	6	83,014,565 (GRCm39)	missense	probably benign	0.00
R5230:Loxl3	UTSW	6	83,012,775 (GRCm39)	missense	probably benign	0.16
R5385:Loxl3	UTSW	6	83,027,593 (GRCm39)	missense	probably damaging	0.99
R5591:Loxl3	UTSW	6	83,025,018 (GRCm39)	missense	probably damaging	1.00
R5664:Loxl3	UTSW	6	83,026,863 (GRCm39)	missense	probably benign	0.12
R5769:Loxl3	UTSW	6	83,027,581 (GRCm39)	missense	probably damaging	0.98
R5771:Loxl3	UTSW	6	83,012,780 (GRCm39)	splice site	probably null
R5802:Loxl3	UTSW	6	83,026,270 (GRCm39)	missense	possibly damaging	0.67
R5831:Loxl3	UTSW	6	83,025,999 (GRCm39)	missense	probably benign	0.01
R5945:Loxl3	UTSW	6	83,014,492 (GRCm39)	missense	probably damaging	1.00
R6542:Loxl3	UTSW	6	83,025,147 (GRCm39)	missense	probably benign	0.00
R6687:Loxl3	UTSW	6	83,027,645 (GRCm39)	missense	probably damaging	1.00
R7961:Loxl3	UTSW	6	83,027,790 (GRCm39)	missense	possibly damaging	0.88
R8009:Loxl3	UTSW	6	83,027,790 (GRCm39)	missense	possibly damaging	0.88
R8122:Loxl3	UTSW	6	83,026,240 (GRCm39)	missense	probably damaging	1.00
R8278:Loxl3	UTSW	6	83,025,697 (GRCm39)	missense	probably damaging	1.00
R8373:Loxl3	UTSW	6	83,025,872 (GRCm39)	missense	possibly damaging	0.89
R8411:Loxl3	UTSW	6	83,027,605 (GRCm39)	missense	probably damaging	1.00
R8539:Loxl3	UTSW	6	83,026,507 (GRCm39)	missense	probably benign
R8684:Loxl3	UTSW	6	83,012,566 (GRCm39)	missense	probably benign	0.23
R8782:Loxl3	UTSW	6	83,025,051 (GRCm39)	missense	probably benign
R8801:Loxl3	UTSW	6	83,025,629 (GRCm39)	missense	probably damaging	1.00
R8859:Loxl3	UTSW	6	83,014,526 (GRCm39)	missense	probably damaging	1.00
R8864:Loxl3	UTSW	6	83,012,739 (GRCm39)	missense	probably damaging	0.99
R9031:Loxl3	UTSW	6	83,012,503 (GRCm39)	missense	probably damaging	1.00
R9081:Loxl3	UTSW	6	83,025,638 (GRCm39)	missense	possibly damaging	0.67
R9176:Loxl3	UTSW	6	83,026,292 (GRCm39)	missense	probably damaging	0.99
R9369:Loxl3	UTSW	6	83,027,393 (GRCm39)	missense	probably benign	0.26
R9634:Loxl3	UTSW	6	83,027,835 (GRCm39)	missense	probably benign	0.10
V1024:Loxl3	UTSW	6	83,012,719 (GRCm39)	missense	probably damaging	1.00
X0009:Loxl3	UTSW	6	83,015,461 (GRCm39)	missense	probably damaging	1.00
Z1177:Loxl3	UTSW	6	83,025,141 (GRCm39)	missense	probably benign	0.00
Z1177:Loxl3	UTSW	6	83,015,559 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGTTATGGTGGGACACTAACCACAAG -3'
(R):5'- CTGTACACATGGAACACTGGAGGC -3'

Sequencing Primer
(F):5'- AAAGGAGAGTCTCCCTCGC -3'
(R):5'- GTCACATGGCCCTGAAATTAG -3'

Posted On

2014-05-23