Mutagenetix > Incidental Mutation

Incidental Mutation 'R5598:Loxl1'

437927

Institutional Source

Beutler Lab

Gene Symbol

Loxl1

Ensembl Gene

ENSMUSG00000032334

Gene Name

lysyl oxidase-like 1

Synonyms

LOXL

MMRRC Submission

043150-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5598 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

58195021-58220469 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58219650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 174 (Y174H)

Ref Sequence

ENSEMBL: ENSMUSP00000057406 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061799
AA Change: Y174H

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000057406
Gene: ENSMUSG00000032334
AA Change: Y174H

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	T	C	2: 168,025,645 (GRCm39)	D550G	probably damaging	Het
Ano6	A	G	15: 95,839,228 (GRCm39)	T457A	probably damaging	Het
Ano8	A	G	8: 71,935,221 (GRCm39)	V359A	probably damaging	Het
Aqp2	G	T	15: 99,476,993 (GRCm39)		probably benign	Het
Atp13a5	C	T	16: 29,075,829 (GRCm39)		probably benign	Het
Carmil3	ACCCCC	ACCCCCCCCCCCC	14: 55,741,456 (GRCm39)		probably null	Het
Ccr1l1	A	G	9: 123,778,030 (GRCm39)	V139A	probably benign	Het
Cecr2	A	G	6: 120,708,407 (GRCm39)		probably null	Het
Celsr2	A	G	3: 108,310,119 (GRCm39)	V1537A	possibly damaging	Het
Chd6	T	A	2: 160,856,032 (GRCm39)	K741N	probably damaging	Het
Chrna1	T	A	2: 73,397,075 (GRCm39)	T405S	probably benign	Het
Cish	T	C	9: 107,174,227 (GRCm39)	V5A	possibly damaging	Het
Cmss1	C	A	16: 57,131,649 (GRCm39)	C159F	probably damaging	Het
Col1a2	A	G	6: 4,516,916 (GRCm39)		probably benign	Het
Cradd	G	T	10: 95,011,666 (GRCm39)	S158*	probably null	Het
Dmxl1	G	A	18: 49,997,545 (GRCm39)	A578T	probably benign	Het
Drd2	A	G	9: 49,318,315 (GRCm39)	N419S	possibly damaging	Het
E4f1	T	C	17: 24,666,103 (GRCm39)	T232A	probably damaging	Het
Fat2	T	A	11: 55,171,956 (GRCm39)	E2919V	probably damaging	Het
Gc	T	C	5: 89,586,309 (GRCm39)		probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hsd11b2	G	A	8: 106,249,143 (GRCm39)	V173I	probably benign	Het
Kdm6b	C	T	11: 69,296,900 (GRCm39)	A456T	probably damaging	Het
Kif18b	G	A	11: 102,799,015 (GRCm39)	P729S	possibly damaging	Het
Lgi1	A	G	19: 38,294,629 (GRCm39)	D467G	possibly damaging	Het
Mtus1	A	T	8: 41,475,592 (GRCm39)	I824N	probably damaging	Het
Myrf	C	T	19: 10,192,654 (GRCm39)	E622K	probably benign	Het
Ncam1	A	G	9: 49,457,051 (GRCm39)	Y416H	probably damaging	Het
Nceh1	A	G	3: 27,280,248 (GRCm39)	T132A	probably benign	Het
Nhlrc4	G	A	17: 26,162,466 (GRCm39)	P94S	probably damaging	Het
Or2v1	C	G	11: 49,025,941 (GRCm39)	D307E	probably benign	Het
Or52s1b	A	T	7: 102,822,841 (GRCm39)	M1K	probably null	Het
Or8b1	A	T	9: 38,399,821 (GRCm39)	R165S	possibly damaging	Het
Pcdhac2	A	G	18: 37,277,476 (GRCm39)	Y152C	probably damaging	Het
Pdia3	C	A	2: 121,244,611 (GRCm39)	T8K	possibly damaging	Het
Pogz	T	A	3: 94,771,820 (GRCm39)	V304E	probably damaging	Het
Snrnp200	A	G	2: 127,068,007 (GRCm39)	S835G	possibly damaging	Het
Susd4	T	C	1: 182,719,635 (GRCm39)	S417P	probably benign	Het
Thsd7b	G	A	1: 129,523,578 (GRCm39)	R127H	probably damaging	Het
Tmco4	A	G	4: 138,781,216 (GRCm39)	D460G	probably damaging	Het
Ttll9	T	A	2: 152,826,234 (GRCm39)	M148K	probably damaging	Het
Ubn2	G	A	6: 38,467,323 (GRCm39)	C677Y	probably benign	Het
Vmn2r98	T	C	17: 19,301,161 (GRCm39)	I721T	probably benign	Het
Wdfy4	C	A	14: 32,855,454 (GRCm39)	C720F	probably damaging	Het
Zzef1	G	A	11: 72,807,347 (GRCm39)	D2742N	probably 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
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
R7566:Loxl1	UTSW	9	58,219,481 (GRCm39)	missense	probably damaging	0.98
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'- AAGGGATAGATGACCCCAGC -3'
(R):5'- TACAGCTTGCTCAACTCGGG -3'

Sequencing Primer
(F):5'- ATAGATGACCCCAGCCGAGG -3'
(R):5'- AGACTAGCTCCAGGGTTCTACTG -3'

Posted On

2016-10-26