Mutagenetix > Incidental Mutation

Incidental Mutation 'R9031:Loxl3'

687052

Institutional Source

Beutler Lab

Gene Symbol

Loxl3

Ensembl Gene

ENSMUSG00000000693

Gene Name

lysyl oxidase-like 3

Synonyms

Lor2

MMRRC Submission

068860-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R9031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83011186-83029547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83012503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 14 (L14P)

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: L14P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000000707
Gene: ENSMUSG00000000693
AA Change: L14P

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: L14P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098815
Gene: ENSMUSG00000000693
AA Change: L14P

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (81/81)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,810,466 (GRCm39)	R921H	probably benign	Het
Adcy5	A	G	16: 35,119,859 (GRCm39)	I1123V	probably damaging	Het
Agr2	G	C	12: 36,045,565 (GRCm39)	G17A	probably benign	Het
Akap6	A	T	12: 53,188,831 (GRCm39)	T2082S	probably benign	Het
Asxl3	G	T	18: 22,657,401 (GRCm39)	V1804F	probably damaging	Het
Atat1	A	G	17: 36,220,381 (GRCm39)	V37A	probably benign	Het
Atp1a3	A	T	7: 24,689,212 (GRCm39)		probably null	Het
Bpifb1	A	G	2: 154,051,848 (GRCm39)	T218A	probably benign	Het
C030006K11Rik	T	A	15: 76,607,961 (GRCm39)	Q19L	probably benign	Het
Ccdc138	T	C	10: 58,380,893 (GRCm39)	F508S	probably damaging	Het
Ccdc81	T	A	7: 89,542,358 (GRCm39)	M173L	probably benign	Het
Cdhr1	T	C	14: 36,815,976 (GRCm39)	I141V	probably benign	Het
Chia1	T	C	3: 106,035,777 (GRCm39)	F206L	probably benign	Het
Clca3a2	C	T	3: 144,511,475 (GRCm39)	G640E	probably damaging	Het
Clcn7	T	C	17: 25,376,497 (GRCm39)	V609A	probably damaging	Het
Cmklr2	T	C	1: 63,223,145 (GRCm39)	E30G	probably benign	Het
Col22a1	C	A	15: 71,753,523 (GRCm39)	G126*	probably null	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Ctcfl	A	T	2: 172,959,044 (GRCm39)	D227E	probably benign	Het
Cwf19l2	A	G	9: 3,417,942 (GRCm39)	D134G	probably benign	Het
Cyp2c65	C	A	19: 39,061,663 (GRCm39)	C216*	probably null	Het
Cyp2d12	T	A	15: 82,443,423 (GRCm39)	C462S	probably null	Het
Cyp4a12a	A	C	4: 115,189,199 (GRCm39)	*509Y	probably null	Het
Cyp4a12b	A	G	4: 115,290,865 (GRCm39)	M298V	probably benign	Het
Dennd4b	T	C	3: 90,178,188 (GRCm39)	V471A	probably benign	Het
Dlc1	A	G	8: 37,405,055 (GRCm39)	S245P	possibly damaging	Het
Dnah1	C	T	14: 31,001,128 (GRCm39)	G2406S	probably benign	Het
Dnah8	A	G	17: 30,956,401 (GRCm39)	K2127R	probably damaging	Het
Dusp13b	G	A	14: 21,790,233 (GRCm39)	R38C	probably benign	Het
Ebf2	T	A	14: 67,472,594 (GRCm39)	I4N	probably benign	Het
Eef1ece2	C	T	16: 20,459,375 (GRCm39)	P570L	probably damaging	Het
Fcgbp	A	G	7: 27,790,908 (GRCm39)	N723S	possibly damaging	Het
Galnt15	T	A	14: 31,770,027 (GRCm39)	V368E	probably damaging	Het
Garem2	A	G	5: 30,313,262 (GRCm39)	E42G	possibly damaging	Het
Gcc1	C	T	6: 28,418,182 (GRCm39)	S717N	probably damaging	Het
Gfm2	T	C	13: 97,309,201 (GRCm39)		probably null	Het
Helb	T	C	10: 119,920,790 (GRCm39)	D1051G	possibly damaging	Het
Helz2	T	A	2: 180,874,261 (GRCm39)	I2078F	possibly damaging	Het
Hsph1	A	T	5: 149,553,270 (GRCm39)	V297D	probably damaging	Het
Ifnar1	A	G	16: 91,302,079 (GRCm39)	Y518C	probably benign	Het
Kcnip2	T	A	19: 45,783,210 (GRCm39)	D153V	probably damaging	Het
Kif15	A	T	9: 122,846,492 (GRCm39)		probably benign	Het
Kif21b	T	C	1: 136,073,042 (GRCm39)	F147L	probably damaging	Het
Klhl29	T	C	12: 5,140,537 (GRCm39)	R702G	probably damaging	Het
Lemd3	C	T	10: 120,767,878 (GRCm39)	E667K	possibly damaging	Het
Lrrd1	A	T	5: 3,900,963 (GRCm39)	K423*	probably null	Het
Mia2	A	G	12: 59,155,586 (GRCm39)	D433G	probably damaging	Het
Mpp2	G	T	11: 101,954,099 (GRCm39)	A216E	probably benign	Het
Mro	T	C	18: 74,009,911 (GRCm39)		probably null	Het
Mybpc1	T	G	10: 88,358,906 (GRCm39)	Y1081S	probably damaging	Het
Myh8	T	G	11: 67,190,141 (GRCm39)	S1260R	possibly damaging	Het
Myo3b	T	C	2: 70,082,094 (GRCm39)	V618A	probably damaging	Het
Naip2	T	G	13: 100,314,776 (GRCm39)	D334A	possibly damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nlrp4c	T	C	7: 6,107,608 (GRCm39)	*983Q	probably null	Het
Nlrp9a	T	G	7: 26,257,698 (GRCm39)	F439V	probably damaging	Het
Nploc4	A	T	11: 120,319,368 (GRCm39)	L64H	probably damaging	Het
Ola1	T	C	2: 72,924,060 (GRCm39)	E246G	probably benign	Het
Otof	G	A	5: 30,537,532 (GRCm39)	S1259F	probably benign	Het
Pde4dip	T	C	3: 97,599,675 (GRCm39)	T2438A	probably damaging	Het
Pex1	A	G	5: 3,686,844 (GRCm39)	T1242A	probably damaging	Het
Pink1	A	T	4: 138,043,056 (GRCm39)		probably benign	Het
Prkcq	A	G	2: 11,251,819 (GRCm39)	T219A	probably damaging	Het
Ptcd3	A	T	6: 71,880,458 (GRCm39)	Y88*	probably null	Het
Ptpru	A	G	4: 131,515,691 (GRCm39)	Y888H	probably damaging	Het
Rapgef6	A	G	11: 54,578,667 (GRCm39)	N1063S	probably benign	Het
Slc1a4	G	A	11: 20,282,532 (GRCm39)		probably benign	Het
Slc4a4	T	C	5: 89,205,568 (GRCm39)		probably benign	Het
Slc6a18	A	T	13: 73,819,822 (GRCm39)	N249K	possibly damaging	Het
Slco2b1	T	G	7: 99,338,214 (GRCm39)	I104L	probably damaging	Het
Syne3	A	T	12: 104,905,871 (GRCm39)	S897R	probably benign	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tnni3k	A	G	3: 154,744,146 (GRCm39)	S69P	probably damaging	Het
Tnpo2	A	G	8: 85,780,163 (GRCm39)	K700E	probably benign	Het
Top3a	T	C	11: 60,636,695 (GRCm39)	K657E	probably damaging	Het
Trgv4	C	T	13: 19,369,169 (GRCm39)	Q7*	probably null	Het
Trim6	T	C	7: 103,875,159 (GRCm39)	L132P	probably damaging	Het
Tshz1	T	C	18: 84,032,987 (GRCm39)	T474A	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vmn1r179	A	T	7: 23,628,234 (GRCm39)	I142L	probably benign	Het
Zbtb2	A	T	10: 4,319,183 (GRCm39)	F281Y	probably damaging	Het
Zfp318	T	C	17: 46,723,433 (GRCm39)	V1812A	probably benign	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
R1725:Loxl3	UTSW	6	83,012,574 (GRCm39)	missense	probably benign	0.00
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
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'- GGGACACTAACCACAAGTTATAAG -3'
(R):5'- TGCAGCGTGAAGTCATCATC -3'

Sequencing Primer
(F):5'- TATTTGCAAAGGGAAAGGAGAGTCTC -3'
(R):5'- CGTGAAGTCATCATCACAGATG -3'

Posted On

2021-11-19