Mutagenetix > Incidental Mutation

Incidental Mutation 'R2291:Loxl3'

244344

Institutional Source

Beutler Lab

Gene Symbol

Loxl3

Ensembl Gene

ENSMUSG00000000693

Gene Name

lysyl oxidase-like 3

Synonyms

Lor2

MMRRC Submission

040290-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R2291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83011186-83029547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 83014469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 126 (A126S)

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: A126S

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

SMART Domains

Protein: ENSMUSP00000000707
Gene: ENSMUSG00000000693
AA Change: A126S

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: A126S

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000098815
Gene: ENSMUSG00000000693
AA Change: A126S

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,207,450 (GRCm39)	I247N	probably damaging	Het
Afdn	A	G	17: 14,109,153 (GRCm39)	K1559E	probably damaging	Het
Ankhd1	C	T	18: 36,777,386 (GRCm39)	T1523I	probably benign	Het
Apc	T	A	18: 34,445,544 (GRCm39)	N795K	probably benign	Het
Arhgap26	G	T	18: 39,490,751 (GRCm39)		probably benign	Het
Atm	C	T	9: 53,402,209 (GRCm39)		probably null	Het
Atp1a4	T	C	1: 172,072,473 (GRCm39)	N394D	probably damaging	Het
Brinp3	T	A	1: 146,776,812 (GRCm39)	S420T	possibly damaging	Het
Cacna1d	G	T	14: 29,764,299 (GRCm39)	R2078S	probably damaging	Het
Cacna1e	T	C	1: 154,279,429 (GRCm39)	D1720G	probably damaging	Het
Camk2a	T	A	18: 61,097,031 (GRCm39)	V38E	probably damaging	Het
Camk4	G	A	18: 33,240,996 (GRCm39)		probably null	Het
Ccr7	G	A	11: 99,036,161 (GRCm39)	R254C	probably damaging	Het
Celf5	C	T	10: 81,302,881 (GRCm39)	G267D	probably damaging	Het
Cfap65	G	A	1: 74,965,634 (GRCm39)	P459S	probably damaging	Het
Chd1l	T	C	3: 97,498,599 (GRCm39)	K267E	probably damaging	Het
Chl1	T	A	6: 103,692,354 (GRCm39)	Y331N	probably damaging	Het
Cltc	G	A	11: 86,624,448 (GRCm39)	T158I	probably benign	Het
Col16a1	T	A	4: 129,960,833 (GRCm39)	D430E	unknown	Het
Cspg4	T	C	9: 56,800,027 (GRCm39)	V1597A	probably damaging	Het
Cstf2t	T	A	19: 31,062,264 (GRCm39)	L600H	probably benign	Het
Cyp27b1	T	C	10: 126,884,163 (GRCm39)	V5A	possibly damaging	Het
Depdc5	C	A	5: 33,136,746 (GRCm39)	Q1339K	probably damaging	Het
Diaph3	G	T	14: 87,203,882 (GRCm39)	P592Q	probably damaging	Het
Dync2i1	A	T	12: 116,193,191 (GRCm39)		probably null	Het
Epha8	T	C	4: 136,660,658 (GRCm39)	M687V	probably damaging	Het
Fhod1	T	A	8: 106,063,596 (GRCm39)		probably benign	Het
Gls2	C	A	10: 128,043,479 (GRCm39)	S73*	probably null	Het
Gm3604	T	A	13: 62,519,657 (GRCm39)	M33L	probably damaging	Het
Gpr39	A	G	1: 125,605,278 (GRCm39)	T69A	probably benign	Het
Hal	T	C	10: 93,339,398 (GRCm39)	F496L	probably damaging	Het
Hipk1	T	C	3: 103,668,926 (GRCm39)	E490G	probably damaging	Het
Ints7	T	G	1: 191,338,315 (GRCm39)		probably null	Het
Itpr3	A	G	17: 27,332,553 (GRCm39)	E1799G	possibly damaging	Het
Kif11	T	A	19: 37,395,451 (GRCm39)	M570K	probably benign	Het
Kif18b	G	T	11: 102,799,096 (GRCm39)	Q702K	probably damaging	Het
Kif19a	A	G	11: 114,681,019 (GRCm39)	T247A	probably damaging	Het
Lama3	A	G	18: 12,658,136 (GRCm39)	E360G	probably damaging	Het
Mc5r	C	T	18: 68,472,435 (GRCm39)	R265W	probably damaging	Het
Mpl	A	G	4: 118,306,197 (GRCm39)	V340A	probably benign	Het
Mrpl13	G	T	15: 55,411,615 (GRCm39)	H56Q	probably damaging	Het
Msr1	T	C	8: 40,077,263 (GRCm39)	T116A	probably benign	Het
N4bp3	T	C	11: 51,536,930 (GRCm39)	K48E	probably damaging	Het
Naaladl1	A	G	19: 6,156,225 (GRCm39)	T104A	probably benign	Het
Neu1	C	T	17: 35,151,742 (GRCm39)	R179W	probably damaging	Het
Or10d5	T	C	9: 39,861,630 (GRCm39)	T146A	probably benign	Het
Or8k21	A	T	2: 86,145,524 (GRCm39)	Y35*	probably null	Het
Osbp	G	T	19: 11,951,198 (GRCm39)	E248*	probably null	Het
Otx1	T	A	11: 21,946,634 (GRCm39)		probably benign	Het
Parp4	A	T	14: 56,851,274 (GRCm39)	Q759L	probably damaging	Het
Pax6	A	C	2: 105,516,228 (GRCm39)	S169R	probably benign	Het
Pigg	T	G	5: 108,480,783 (GRCm39)	I389M	probably damaging	Het
Pla2g4a	C	A	1: 149,776,940 (GRCm39)	V59F	probably damaging	Het
Plcb4	A	T	2: 135,781,903 (GRCm39)	Q241H	probably benign	Het
Plpp6	A	G	19: 28,941,720 (GRCm39)	D107G	probably damaging	Het
Ppp6r2	T	A	15: 89,159,690 (GRCm39)	L459Q	probably damaging	Het
Prss55	A	T	14: 64,313,171 (GRCm39)	W238R	probably damaging	Het
Rgl1	C	T	1: 152,412,032 (GRCm39)	E446K	probably damaging	Het
Ric3	C	T	7: 108,638,090 (GRCm39)	G221D	probably damaging	Het
Rnf167	T	C	11: 70,540,129 (GRCm39)	F83S	probably damaging	Het
Ryr1	C	T	7: 28,798,202 (GRCm39)	V947M	probably damaging	Het
Scn1a	A	G	2: 66,119,312 (GRCm39)	L1397P	probably benign	Het
Sh3bp1	T	A	15: 78,802,519 (GRCm39)	V251E	possibly damaging	Het
Slc25a10	A	T	11: 120,387,900 (GRCm39)	I198L	probably benign	Het
Smoc2	A	T	17: 14,589,233 (GRCm39)	N234I	possibly damaging	Het
Spdl1	T	A	11: 34,710,136 (GRCm39)	K382*	probably null	Het
Ssrp1	G	A	2: 84,872,660 (GRCm39)		probably null	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Triqk	T	A	4: 12,974,817 (GRCm39)		probably null	Het
Ttc19	T	C	11: 62,174,519 (GRCm39)	Y128H	probably damaging	Het
Vmn1r15	T	C	6: 57,235,677 (GRCm39)	S182P	possibly damaging	Het
Vmn1r226	A	G	17: 20,908,475 (GRCm39)	I236V	probably damaging	Het
Vmn2r120	A	C	17: 57,816,479 (GRCm39)	N625K	probably damaging	Het
Vmn2r78	T	C	7: 86,569,362 (GRCm39)	I85T	probably damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Wnt7a	C	T	6: 91,371,468 (GRCm39)	V165I	probably benign	Het
Zbtb40	A	T	4: 136,712,328 (GRCm39)	Y1127N	possibly damaging	Het
Zfyve1	A	T	12: 83,594,705 (GRCm39)	H762Q	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
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
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'- CAGCATCCCAGATCACCAGT -3'
(R):5'- CACTTGGCAGCCGTGTGT -3'

Sequencing Primer
(F):5'- TCCCAGATCACCAGTAACCTTTC -3'
(R):5'- GCAGCCGTGTGTGTGTG -3'

Posted On

2014-10-30