Mutagenetix > Incidental Mutation

Incidental Mutation 'R7566:Loxl1'

585459

Institutional Source

Beutler Lab

Gene Symbol

Loxl1

Ensembl Gene

ENSMUSG00000032334

Gene Name

lysyl oxidase-like 1

Synonyms

LOXL

MMRRC Submission

045628-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7566 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58195021-58220469 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58219481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 230 (Q230L)

Ref Sequence

ENSEMBL: ENSMUSP00000057406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061799]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000061799
AA Change: Q230L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057406
Gene: ENSMUSG00000032334
AA Change: Q230L

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	82	96	N/A	INTRINSIC
low complexity region	154	165	N/A	INTRINSIC
low complexity region	170	185	N/A	INTRINSIC
low complexity region	202	225	N/A	INTRINSIC
low complexity region	232	253	N/A	INTRINSIC
low complexity region	264	280	N/A	INTRINSIC
low complexity region	314	326	N/A	INTRINSIC
Pfam:Lysyl_oxidase	403	604	5.1e-98	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: This gene encodes a member of the lysyl oxidase family of copper-dependent enzymes that catalyze the formation of lysine-derived crosslinks in proteins such as collagen and elastin. The encoded preproprotein undergoes proteolytic processing to generate the mature, functional enzyme. Mice lacking the encoded protein fail to deposit normal elastic fibers in the uterine tract post partum and develop pelvic organ prolapse, enlarged airspaces of the lung, loose skin and vascular abnormalities with concomitant tropoelastin accumulation. [provided by RefSeq, Sep 2016]
PHENOTYPE: Elastic fiber homeostasis is disrupted in homozygous mutant mice, resulting in loose skin, abnormal lung morphology, intestinal defects, and post partum uterine prolapse. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	G	1: 12,021,252 (GRCm39)	S420R	probably damaging	Het
Acat2	C	T	17: 13,166,346 (GRCm39)	D219N	probably damaging	Het
Anapc10	G	A	8: 80,446,308 (GRCm39)	R46Q	possibly damaging	Het
Ankub1	G	A	3: 57,573,039 (GRCm39)	R228*	probably null	Het
Arhgap21	T	C	2: 20,917,102 (GRCm39)	N91S	probably benign	Het
Arhgap32	T	A	9: 32,162,018 (GRCm39)	V323D	probably benign	Het
Bcas1	C	T	2: 170,212,369 (GRCm39)		probably null	Het
Cd109	C	T	9: 78,588,119 (GRCm39)	P716S	probably damaging	Het
Chd4	C	T	6: 125,078,866 (GRCm39)	P267L	possibly damaging	Het
Cpne7	G	T	8: 123,860,552 (GRCm39)	V502F	probably damaging	Het
Cracd	G	A	5: 77,014,122 (GRCm39)		probably null	Het
Dlgap4	C	T	2: 156,604,657 (GRCm39)	A921V	probably benign	Het
Faap24	G	T	7: 35,092,465 (GRCm39)	R151S	probably benign	Het
Fam98a	A	G	17: 75,854,657 (GRCm39)	S51P	probably damaging	Het
Fbxl8	A	G	8: 105,994,938 (GRCm39)	D150G	possibly damaging	Het
Fut10	A	G	8: 31,749,950 (GRCm39)	K412R	probably benign	Het
G0s2	T	C	1: 192,955,076 (GRCm39)	S3G	probably benign	Het
Gm1527	T	C	3: 28,974,767 (GRCm39)	Y527H	probably benign	Het
Gsdmc3	T	C	15: 63,733,510 (GRCm39)	K227R	possibly damaging	Het
Gtf2ird2	A	G	5: 134,242,848 (GRCm39)	Y354C	probably damaging	Het
Hmcn2	T	A	2: 31,344,869 (GRCm39)	N4685K	probably damaging	Het
Itgad	A	T	7: 127,791,279 (GRCm39)	Y717F	probably benign	Het
Kcnh5	C	T	12: 75,161,166 (GRCm39)	W247*	probably null	Het
Kcnt1	C	A	2: 25,806,048 (GRCm39)	S1212R	probably benign	Het
Kirrel1	A	G	3: 86,995,791 (GRCm39)	V381A	probably damaging	Het
Magi1	T	C	6: 93,655,308 (GRCm39)	E1446G	probably benign	Het
Man1a	A	G	10: 53,795,330 (GRCm39)	V550A	possibly damaging	Het
Mgat4d	T	C	8: 84,084,652 (GRCm39)	S132P	probably damaging	Het
Muc16	T	A	9: 18,549,925 (GRCm39)	H5456L	probably benign	Het
Nhsl1	A	G	10: 18,391,867 (GRCm39)	K207R	probably damaging	Het
Nlrp4a	A	C	7: 26,148,670 (GRCm39)		probably null	Het
Nr6a1	T	C	2: 38,621,085 (GRCm39)	M407V	possibly damaging	Het
Or13c7b	A	G	4: 43,820,711 (GRCm39)	S217P	probably damaging	Het
Or2b2b	T	G	13: 21,858,737 (GRCm39)	I126L	possibly damaging	Het
Or2z2	G	T	11: 58,346,489 (GRCm39)	F95L	probably benign	Het
Or6c206	T	C	10: 129,097,469 (GRCm39)	I213T	probably damaging	Het
Ovgp1	A	G	3: 105,881,626 (GRCm39)		probably benign	Het
Ovol3	G	T	7: 29,933,791 (GRCm39)	F110L	probably damaging	Het
Pcsk5	T	C	19: 17,549,821 (GRCm39)	T724A	probably benign	Het
Phtf2	G	T	5: 20,970,799 (GRCm39)	T653N	probably damaging	Het
Plch1	A	T	3: 63,688,663 (GRCm39)		probably null	Het
Prkce	A	T	17: 86,800,757 (GRCm39)	E391V	probably benign	Het
Prob1	A	G	18: 35,788,038 (GRCm39)	V72A	probably benign	Het
Prrc2b	C	A	2: 32,084,402 (GRCm39)	P289Q	probably benign	Het
Ptbp3	A	T	4: 59,514,280 (GRCm39)	N114K	probably benign	Het
Rho	T	A	6: 115,909,135 (GRCm39)	L57H	probably damaging	Het
Slc44a5	A	C	3: 153,975,626 (GRCm39)	D679A	probably damaging	Het
Slit2	A	T	5: 48,407,239 (GRCm39)	D898V	probably damaging	Het
Spag16	C	T	1: 69,909,487 (GRCm39)	R195C	probably damaging	Het
Tmprss11a	T	G	5: 86,591,993 (GRCm39)	D60A	possibly damaging	Het
Ttn	T	A	2: 76,565,293 (GRCm39)	R28311S	probably damaging	Het
Wfikkn1	T	C	17: 26,097,352 (GRCm39)	D324G	probably damaging	Het
Zan	A	C	5: 137,410,845 (GRCm39)		probably null	Het
Zfp945	A	T	17: 23,070,727 (GRCm39)	C412S	possibly damaging	Het

Other mutations in Loxl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Loxl1	APN	9	58,201,705 (GRCm39)	missense	possibly damaging	0.89
IGL02549:Loxl1	APN	9	58,200,921 (GRCm39)	missense	probably damaging	1.00
IGL02562:Loxl1	APN	9	58,196,199 (GRCm39)	missense	probably damaging	1.00
IGL03062:Loxl1	APN	9	58,219,193 (GRCm39)	missense	possibly damaging	0.61
R0141:Loxl1	UTSW	9	58,219,415 (GRCm39)	missense	probably damaging	0.98
R1503:Loxl1	UTSW	9	58,200,923 (GRCm39)	missense	probably damaging	1.00
R1898:Loxl1	UTSW	9	58,204,961 (GRCm39)	missense	probably damaging	1.00
R2125:Loxl1	UTSW	9	58,200,995 (GRCm39)	missense	probably damaging	1.00
R2264:Loxl1	UTSW	9	58,204,961 (GRCm39)	missense	probably damaging	1.00
R4094:Loxl1	UTSW	9	58,219,739 (GRCm39)	missense	probably damaging	0.98
R4993:Loxl1	UTSW	9	58,219,820 (GRCm39)	missense	probably damaging	0.99
R5484:Loxl1	UTSW	9	58,198,065 (GRCm39)	missense	possibly damaging	0.75
R5598:Loxl1	UTSW	9	58,219,650 (GRCm39)	missense	possibly damaging	0.71
R5808:Loxl1	UTSW	9	58,201,732 (GRCm39)	missense	probably damaging	0.99
R5917:Loxl1	UTSW	9	58,220,006 (GRCm39)	missense	probably damaging	1.00
R7899:Loxl1	UTSW	9	58,198,117 (GRCm39)	missense	probably damaging	1.00
R9093:Loxl1	UTSW	9	58,219,224 (GRCm39)	missense	probably benign	0.01
R9649:Loxl1	UTSW	9	58,220,037 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCGAGTAACGACGGTCAAG -3'
(R):5'- ACTAGCTCCAGGGTTCTACTG -3'

Sequencing Primer
(F):5'- TCAAGGCCGTCGGAAGGTTG -3'
(R):5'- ACAGTACCGGCATGGCTC -3'

Posted On

2019-10-17