Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01371:Loxl1'

76145

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Loxl1

Ensembl Gene

ENSMUSG00000032334

Gene Name

lysyl oxidase-like 1

Synonyms

LOXL

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01371

Quality Score

Status

Chromosome

Chromosomal Location

58287738-58313186 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58294422 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 462 (Q462L)

Ref Sequence

ENSEMBL: ENSMUSP00000057406 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061799
AA Change: Q462L

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000057406
Gene: ENSMUSG00000032334
AA Change: Q462L

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	C	9: 103,254,776	E504G	possibly damaging	Het
Abcc9	C	T	6: 142,656,614	R691Q	probably benign	Het
AI314180	A	G	4: 58,809,718	L1583P	probably damaging	Het
Ambra1	G	T	2: 91,825,286	G700W	probably damaging	Het
Atp6v1c1	A	G	15: 38,682,960	I198V	probably benign	Het
Bptf	T	C	11: 107,055,907	N2353S	probably benign	Het
Cd84	A	T	1: 171,886,370	T312S	probably benign	Het
Chl1	G	T	6: 103,715,364	C1064F	probably damaging	Het
Clca4a	T	C	3: 144,960,672	D473G	probably damaging	Het
Dsp	A	G	13: 38,193,617	R1793G	probably benign	Het
Dync1h1	A	G	12: 110,638,851	N2374S	probably benign	Het
Gm43191	A	T	3: 116,645,463	I130N	probably damaging	Het
Gm5134	T	G	10: 76,004,747	L475R	probably damaging	Het
Grm1	A	G	10: 10,720,039	V615A	probably benign	Het
Nwd1	T	C	8: 72,675,115	W755R	probably damaging	Het
Olfr1102	A	T	2: 87,002,923	K318M	probably benign	Het
Olfr1408	A	G	1: 173,130,531	S229P	possibly damaging	Het
Olfr1459	G	A	19: 13,145,828	T277I	possibly damaging	Het
Otud4	T	C	8: 79,673,761	F1034L	probably damaging	Het
Pakap	C	A	4: 57,856,325	D551E	probably benign	Het
Panx3	T	G	9: 37,661,475	T260P	probably benign	Het
Ppfia4	A	T	1: 134,328,086	S194T	probably benign	Het
Rnf135	T	A	11: 80,189,255	I124N	probably benign	Het
Rpf1	T	C	3: 146,507,547	N283S	probably damaging	Het
Smg5	A	G	3: 88,359,644		probably benign	Het
Stard9	A	G	2: 120,701,368	E2702G	probably benign	Het
Tbk1	A	T	10: 121,559,871	M439K	probably benign	Het
Tmem235	T	C	11: 117,862,306	L85P	possibly damaging	Het
Trhde	A	T	10: 114,588,500	V460E	possibly damaging	Het
Ttn	T	C	2: 76,790,264		probably benign	Het
Vmn1r83	A	G	7: 12,321,233	F299S	probably benign	Het

Other mutations in Loxl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02549:Loxl1	APN	9	58293638	missense	probably damaging	1.00
IGL02562:Loxl1	APN	9	58288916	missense	probably damaging	1.00
IGL03062:Loxl1	APN	9	58311910	missense	possibly damaging	0.61
R0141:Loxl1	UTSW	9	58312132	missense	probably damaging	0.98
R1503:Loxl1	UTSW	9	58293640	missense	probably damaging	1.00
R1898:Loxl1	UTSW	9	58297678	missense	probably damaging	1.00
R2125:Loxl1	UTSW	9	58293712	missense	probably damaging	1.00
R2264:Loxl1	UTSW	9	58297678	missense	probably damaging	1.00
R4094:Loxl1	UTSW	9	58312456	missense	probably damaging	0.98
R4993:Loxl1	UTSW	9	58312537	missense	probably damaging	0.99
R5484:Loxl1	UTSW	9	58290782	missense	possibly damaging	0.75
R5598:Loxl1	UTSW	9	58312367	missense	possibly damaging	0.71
R5808:Loxl1	UTSW	9	58294449	missense	probably damaging	0.99
R5917:Loxl1	UTSW	9	58312723	missense	probably damaging	1.00
R7566:Loxl1	UTSW	9	58312198	missense	probably damaging	0.98
R7899:Loxl1	UTSW	9	58290834	missense	probably damaging	1.00
R7982:Loxl1	UTSW	9	58290834	missense	probably damaging	1.00

Posted On

2013-10-07