Mutagenetix > Incidental Mutation

Incidental Mutation 'R1898:Loxl1'

212132

Institutional Source

Beutler Lab

Gene Symbol

Loxl1

Ensembl Gene

ENSMUSG00000032334

Gene Name

lysyl oxidase-like 1

Synonyms

LOXL

MMRRC Submission

039918-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58195021-58220469 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58204961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 418 (V418A)

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: V418A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000057406
Gene: ENSMUSG00000032334
AA Change: V418A

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

Meta Mutation Damage Score

0.6809

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	A	4: 53,071,977 (GRCm39)	R1195L	probably benign	Het
Abca14	A	G	7: 119,850,392 (GRCm39)	Y748C	probably damaging	Het
Abca6	A	G	11: 110,099,625 (GRCm39)	F974S	probably damaging	Het
Acyp1	T	C	12: 85,335,114 (GRCm39)	K2E	probably benign	Het
Ahcy	T	A	2: 154,904,173 (GRCm39)	S355C	probably benign	Het
AI182371	A	G	2: 34,990,661 (GRCm39)	V12A	probably damaging	Het
Ankrd36	T	C	11: 5,525,683 (GRCm39)	I215T	probably benign	Het
Aox1	C	T	1: 58,117,601 (GRCm39)	R828C	probably damaging	Het
Atp1a4	T	A	1: 172,062,615 (GRCm39)	I631F	probably damaging	Het
Brd10	T	C	19: 29,712,532 (GRCm39)	N789S	possibly damaging	Het
Brinp3	T	G	1: 146,776,987 (GRCm39)	V478G	possibly damaging	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Celf2	C	T	2: 6,608,975 (GRCm39)	V95M	probably damaging	Het
Chka	A	T	19: 3,942,205 (GRCm39)	E404D	probably damaging	Het
Clec5a	A	C	6: 40,558,870 (GRCm39)	V72G	probably benign	Het
Cnn1	T	C	9: 22,012,560 (GRCm39)		probably null	Het
Coq6	A	G	12: 84,413,737 (GRCm39)	E89G	probably benign	Het
Cpne6	A	T	14: 55,754,485 (GRCm39)	I538F	possibly damaging	Het
Crx	G	A	7: 15,602,148 (GRCm39)	P177S	probably damaging	Het
Cysltr2	G	T	14: 73,266,973 (GRCm39)	P246T	probably damaging	Het
Decr1	A	G	4: 15,929,801 (GRCm39)	I164T	probably damaging	Het
Dmtf1	A	T	5: 9,178,091 (GRCm39)	V315E	probably damaging	Het
Dnah7b	A	G	1: 46,275,874 (GRCm39)	N2587S	probably benign	Het
E2f6	C	A	12: 16,874,581 (GRCm39)	T221K	probably benign	Het
Fat3	T	G	9: 15,871,426 (GRCm39)	D3655A	probably damaging	Het
Fbxw28	G	A	9: 109,152,452 (GRCm39)	T384I	probably benign	Het
Fes	T	A	7: 80,029,659 (GRCm39)	I608F	probably damaging	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Gabrb2	A	G	11: 42,484,659 (GRCm39)	K239E	possibly damaging	Het
Gen1	T	C	12: 11,291,609 (GRCm39)	R727G	probably benign	Het
Glb1	T	A	9: 114,253,103 (GRCm39)	V184E	probably damaging	Het
Gngt1	A	T	6: 3,996,724 (GRCm39)	I57F	possibly damaging	Het
Ice1	T	C	13: 70,750,426 (GRCm39)	I87V	possibly damaging	Het
Itih1	A	G	14: 30,654,244 (GRCm39)	Y674H	probably benign	Het
Itsn1	T	A	16: 91,696,468 (GRCm39)	C24S	probably damaging	Het
Myh10	A	G	11: 68,662,732 (GRCm39)	N595S	probably damaging	Het
Myo5c	C	T	9: 75,204,908 (GRCm39)	T1587I	probably damaging	Het
Npat	T	A	9: 53,474,937 (GRCm39)	F910I	probably damaging	Het
Nradd	T	C	9: 110,450,676 (GRCm39)	Y167C	probably damaging	Het
Nt5dc1	T	C	10: 34,189,631 (GRCm39)	E352G	probably benign	Het
Numa1	T	C	7: 101,641,927 (GRCm39)		probably null	Het
Odc1	T	A	12: 17,598,842 (GRCm39)	S241T	probably damaging	Het
Or11g2	A	T	14: 50,856,231 (GRCm39)	D184V	probably damaging	Het
Or14j7	A	T	17: 38,234,516 (GRCm39)	N20Y	possibly damaging	Het
Pcnx3	T	C	19: 5,722,615 (GRCm39)	D951G	probably damaging	Het
Pigg	T	C	5: 108,484,408 (GRCm39)	F685L	probably benign	Het
Pnpla7	T	A	2: 24,943,796 (GRCm39)		probably benign	Het
Pramel16	C	T	4: 143,677,298 (GRCm39)	V94M	probably damaging	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rp1l1	A	T	14: 64,269,039 (GRCm39)	T1542S	probably benign	Het
Sct	A	T	7: 140,858,761 (GRCm39)	L57Q	probably damaging	Het
Serpinb3b	T	C	1: 107,082,317 (GRCm39)	S316G	possibly damaging	Het
Shprh	T	C	10: 11,062,613 (GRCm39)	L1240S	probably damaging	Het
Slc4a1	C	T	11: 102,241,133 (GRCm39)	E924K	probably damaging	Het
Sp7	A	T	15: 102,267,453 (GRCm39)	Y118N	possibly damaging	Het
Srebf2	A	G	15: 82,087,936 (GRCm39)	T219A	probably damaging	Het
Tenm3	G	T	8: 48,763,796 (GRCm39)	P753T	probably damaging	Het
Tonsl	A	T	15: 76,523,053 (GRCm39)		probably null	Het
Trio	A	T	15: 27,742,466 (GRCm39)	S2675T	possibly damaging	Het
Tspan12	T	C	6: 21,795,693 (GRCm39)	T166A	probably damaging	Het
Ttll4	A	G	1: 74,736,641 (GRCm39)	D1122G	probably benign	Het
Vmn1r77	G	A	7: 11,775,550 (GRCm39)	A41T	probably damaging	Het
Xpo7	A	T	14: 70,933,064 (GRCm39)	F276Y	probably benign	Het
Zdhhc1	A	T	8: 106,205,378 (GRCm39)		probably null	Het
Zfp319	C	A	8: 96,055,417 (GRCm39)	C262F	probably damaging	Het
Zfp442	C	T	2: 150,250,582 (GRCm39)	C383Y	probably damaging	Het
Zfp57	G	T	17: 37,320,650 (GRCm39)	R168L	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
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
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'- TCCTTGAGCCAGGCAAGATG -3'
(R):5'- CTAGGCTGTCTCAATGGCTC -3'

Sequencing Primer
(F):5'- CCAGGCAAGATGGAGGGC -3'
(R):5'- GAGGCAGTGAATTGCTACTAACCTC -3'

Posted On

2014-06-30