Mutagenetix > Incidental Mutation

Incidental Mutation 'R5484:Loxl1'

430313

Institutional Source

Beutler Lab

Gene Symbol

Loxl1

Ensembl Gene

ENSMUSG00000032334

Gene Name

lysyl oxidase-like 1

Synonyms

LOXL

MMRRC Submission

043045-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5484 (G1)

Quality Score

153

Status

Validated

Chromosome

Chromosomal Location

58195021-58220469 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58198065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 597 (V597A)

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: V597A

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000057406
Gene: ENSMUSG00000032334
AA Change: V597A

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

0.1470

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.4%

Validation Efficiency

97% (76/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,313,851 (GRCm39)	H609R	probably benign	Het
Abca6	A	T	11: 110,074,899 (GRCm39)	V1388E	probably damaging	Het
Alx1	T	A	10: 102,861,177 (GRCm39)	D117V	probably damaging	Het
Ascl4	T	C	10: 85,764,401 (GRCm39)	L16P	probably damaging	Het
Atp4a	G	A	7: 30,420,097 (GRCm39)		probably benign	Het
Btnl10	G	A	11: 58,814,651 (GRCm39)	V444M	probably damaging	Het
Camkv	A	T	9: 107,823,345 (GRCm39)	N124Y	probably damaging	Het
Catsperb	T	C	12: 101,542,175 (GRCm39)	L625P	probably benign	Het
Ccdc171	A	G	4: 83,612,199 (GRCm39)	I973V	probably benign	Het
Celsr1	T	C	15: 85,815,483 (GRCm39)	D1844G	probably benign	Het
Chd7	G	C	4: 8,828,258 (GRCm39)	K1066N	probably damaging	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Corin	T	C	5: 72,515,827 (GRCm39)	D409G	probably benign	Het
Cry1	T	C	10: 84,982,588 (GRCm39)		probably null	Het
Cttnbp2	T	A	6: 18,427,689 (GRCm39)		probably benign	Het
Cyrib	T	A	15: 63,815,056 (GRCm39)	T139S	probably damaging	Het
Dmxl1	T	A	18: 50,022,531 (GRCm39)	V1623E	probably damaging	Het
Dnah6	G	T	6: 73,069,099 (GRCm39)	D2477E	possibly damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dop1a	C	G	9: 86,427,341 (GRCm39)	R2164G	probably damaging	Het
Dsp	A	G	13: 38,368,014 (GRCm39)	T678A	possibly damaging	Het
Farsb	A	C	1: 78,452,833 (GRCm39)	I51S	probably damaging	Het
Gm10220	T	A	5: 26,322,930 (GRCm39)	I161L	possibly damaging	Het
Gm10782	G	T	13: 56,510,987 (GRCm39)		noncoding transcript	Het
Gm12830	A	T	4: 114,702,248 (GRCm39)	T137S	unknown	Het
Gopc	A	G	10: 52,234,942 (GRCm39)	L67P	probably damaging	Het
Hmcn1	T	C	1: 150,551,291 (GRCm39)	I2655V	probably benign	Het
Hmcn2	C	T	2: 31,283,066 (GRCm39)	Q1981*	probably null	Het
Ifi209	T	A	1: 173,468,640 (GRCm39)	S157T	probably benign	Het
Ift56	T	G	6: 38,366,057 (GRCm39)	C124W	probably benign	Het
Iqcf1	A	T	9: 106,379,107 (GRCm39)	I74F	probably damaging	Het
Irf3	A	T	7: 44,649,382 (GRCm39)	R78W	probably damaging	Het
Kank4	T	C	4: 98,663,022 (GRCm39)	D722G	probably benign	Het
Marveld1	T	C	19: 42,136,272 (GRCm39)	L62P	probably damaging	Het
Mga	T	G	2: 119,747,107 (GRCm39)	D419E	possibly damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mroh2b	A	G	15: 4,938,463 (GRCm39)	K251E	possibly damaging	Het
Myh4	A	G	11: 67,142,644 (GRCm39)	E935G	probably damaging	Het
Nat8f2	C	A	6: 85,844,994 (GRCm39)	A123S	possibly damaging	Het
Niban1	A	G	1: 151,593,837 (GRCm39)	T841A	probably benign	Het
Or4d11	G	A	19: 12,013,192 (GRCm39)	L305F	probably benign	Het
Pcdha9	T	A	18: 37,131,156 (GRCm39)	V75E	probably damaging	Het
Pebp4	A	T	14: 70,200,991 (GRCm39)		probably null	Het
Pitx1	A	G	13: 55,974,166 (GRCm39)	S222P	probably benign	Het
Plekhg3	G	A	12: 76,625,174 (GRCm39)	V1339M	possibly damaging	Het
Plekhs1	C	T	19: 56,468,260 (GRCm39)	S276L	possibly damaging	Het
Plin4	T	C	17: 56,411,932 (GRCm39)	T700A	possibly damaging	Het
Plxnb2	T	C	15: 89,048,412 (GRCm39)		probably null	Het
Pms2	T	C	5: 143,864,943 (GRCm39)	I675T	probably damaging	Het
Polrmt	A	G	10: 79,577,888 (GRCm39)	L268P	probably damaging	Het
Rtp1	A	G	16: 23,248,025 (GRCm39)	T33A	probably benign	Het
Safb2	T	C	17: 56,882,346 (GRCm39)		probably benign	Het
Sdk1	C	A	5: 142,085,941 (GRCm39)	P1383Q	probably damaging	Het
Setdb1	A	T	3: 95,244,569 (GRCm39)	C758S	probably damaging	Het
Sh3gl2	T	C	4: 85,317,160 (GRCm39)		probably benign	Het
Slc13a2	G	A	11: 78,295,648 (GRCm39)		probably benign	Het
Slc35b1	T	C	11: 95,278,631 (GRCm39)	Y126H	probably damaging	Het
Strip2	C	A	6: 29,917,154 (GRCm39)		probably benign	Het
Tbx4	A	G	11: 85,805,230 (GRCm39)	T440A	probably damaging	Het
Tcf7l2	C	A	19: 55,907,940 (GRCm39)		probably null	Het
Tgfb1	A	C	7: 25,387,574 (GRCm39)	D94A	probably benign	Het
Tmem132b	T	C	5: 125,864,797 (GRCm39)	C968R	probably damaging	Het
Tmem176b	T	A	6: 48,811,467 (GRCm39)	M61L	probably benign	Het
Tmem258	A	G	19: 10,184,689 (GRCm39)		probably null	Het
Tpr	T	C	1: 150,302,639 (GRCm39)	L1379S	probably benign	Het
Vmn2r44	T	C	7: 8,383,123 (GRCm39)	D157G	possibly damaging	Het
Wfdc8	T	C	2: 164,439,649 (GRCm39)	I244M	probably benign	Het
Zfp341	T	C	2: 154,466,921 (GRCm39)	S97P	probably benign	Het
Zfp655	T	C	5: 145,180,445 (GRCm39)	V101A	probably benign	Het
Zfp788	T	C	7: 41,299,277 (GRCm39)	S586P	probably damaging	Het
Zfp874b	C	T	13: 67,629,373 (GRCm39)	V52I	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
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'- AATACCCCATAGCCTGCCTG -3'
(R):5'- TGTGGCCTCAGATCTCTGTC -3'

Sequencing Primer
(F):5'- TGAGCTCCATCGTGAGCACTC -3'
(R):5'- GGCCTCAGATCTCTGTCTCCTAC -3'

Posted On

2016-10-05