Mutagenetix > Incidental Mutation

Incidental Mutation 'R9649:Loxl1'

726963

Institutional Source

Beutler Lab

Gene Symbol

Loxl1

Ensembl Gene

ENSMUSG00000032334

Gene Name

lysyl oxidase-like 1

Synonyms

LOXL

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9649 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58195021-58220469 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58220037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 45 (W45R)

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: W45R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057406
Gene: ENSMUSG00000032334
AA Change: W45R

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010B08Rik	A	T	2: 173,561,706 (GRCm39)	H5L	unknown	Het
Aatk	A	G	11: 119,901,733 (GRCm39)	S888P	probably damaging	Het
Ahnak	A	T	19: 8,985,786 (GRCm39)	K2357*	probably null	Het
Arl9	T	A	5: 77,155,139 (GRCm39)	L90Q	probably damaging	Het
Atosa	A	G	9: 74,924,349 (GRCm39)	D864G	possibly damaging	Het
Atxn2	T	C	5: 121,949,055 (GRCm39)	V1144A	probably damaging	Het
Batf3	C	T	1: 190,830,623 (GRCm39)		probably benign	Het
Bltp3b	C	A	10: 89,626,593 (GRCm39)	T429K	probably benign	Het
Brpf3	G	A	17: 29,037,597 (GRCm39)	E822K	probably benign	Het
Cabin1	T	A	10: 75,575,239 (GRCm39)	Q602L	probably damaging	Het
Cadps	T	C	14: 12,597,418 (GRCm38)	E424G	probably damaging	Het
Camta1	A	G	4: 151,216,004 (GRCm39)	L972P	possibly damaging	Het
Ccdc159	A	G	9: 21,840,672 (GRCm39)	N80D	possibly damaging	Het
Cdh1	A	C	8: 107,388,604 (GRCm39)	E553D	possibly damaging	Het
Cdk14	T	A	5: 5,423,477 (GRCm39)	E35V	probably benign	Het
Cfap70	A	G	14: 20,450,546 (GRCm39)	L995P	probably damaging	Het
Col18a1	T	A	10: 76,916,673 (GRCm39)	E334V	unknown	Het
Colec12	T	A	18: 9,877,000 (GRCm39)	I741K	unknown	Het
Crot	A	G	5: 9,024,170 (GRCm39)	V342A	probably benign	Het
Ctnnal1	A	G	4: 56,865,036 (GRCm39)	S27P	possibly damaging	Het
Cyp2j9	A	G	4: 96,460,193 (GRCm39)	S437P	probably damaging	Het
Dennd4c	A	T	4: 86,743,160 (GRCm39)	T1001S	probably benign	Het
Dffa	G	A	4: 149,202,276 (GRCm39)	V227I	probably benign	Het
Dnaaf5	T	A	5: 139,159,909 (GRCm39)	H602Q	probably benign	Het
Efcab7	G	T	4: 99,761,902 (GRCm39)	K397N	probably damaging	Het
Egfl6	C	T	X: 165,319,235 (GRCm39)	V379I	probably benign	Het
Fadd	G	A	7: 144,134,384 (GRCm39)	T167I	probably benign	Het
Fam184b	T	C	5: 45,796,484 (GRCm39)	D33G	probably damaging	Het
Fam237b	C	T	5: 5,625,549 (GRCm39)	Q82*	probably null	Het
Fam83h	G	A	15: 75,877,976 (GRCm39)	R141W	probably damaging	Het
Fanci	G	A	7: 79,076,954 (GRCm39)	R564Q	probably damaging	Het
Fat3	A	T	9: 15,908,054 (GRCm39)	D2649E	possibly damaging	Het
Fcrl1	A	G	3: 87,291,918 (GRCm39)	T46A	possibly damaging	Het
Fig4	C	T	10: 41,143,763 (GRCm39)	G232D	probably benign	Het
Frem3	A	T	8: 81,341,145 (GRCm39)	H1146L	probably damaging	Het
Fyttd1	T	A	16: 32,715,472 (GRCm39)	F133L	probably benign	Het
Gata2	A	G	6: 88,179,505 (GRCm39)	N326D	probably damaging	Het
Gm7298	A	T	6: 121,764,491 (GRCm39)	T1457S	probably damaging	Het
Hdac1-ps	A	T	17: 78,799,075 (GRCm39)	Y22F	probably benign	Het
Heatr5b	C	T	17: 79,141,524 (GRCm39)		probably null	Het
Hfm1	T	A	5: 107,066,329 (GRCm39)	D33V	possibly damaging	Het
Hmcn2	G	A	2: 31,292,450 (GRCm39)	A2447T	possibly damaging	Het
Hs3st3b1	A	G	11: 63,812,331 (GRCm39)	F128S	probably benign	Het
Hs3st6	G	T	17: 24,972,226 (GRCm39)	R56L	possibly damaging	Het
Hsd17b3	C	T	13: 64,212,171 (GRCm39)	M168I	probably damaging	Het
Ighv1-34	G	T	12: 114,814,885 (GRCm39)	D92E	possibly damaging	Het
Itgb4	A	T	11: 115,885,171 (GRCm39)	I1018F	possibly damaging	Het
Itih3	T	C	14: 30,637,605 (GRCm39)	D518G	possibly damaging	Het
Kcnma1	C	T	14: 23,501,666 (GRCm39)		probably null	Het
Klhl11	A	T	11: 100,363,506 (GRCm39)	S17T	probably benign	Het
Lilra6	T	C	7: 3,917,521 (GRCm39)	E158G	possibly damaging	Het
Lratd1	T	C	12: 14,200,190 (GRCm39)	N179S	probably benign	Het
Lrfn1	G	T	7: 28,166,255 (GRCm39)	V550F	probably damaging	Het
Lrp1	T	C	10: 127,409,368 (GRCm39)	K1584E	probably benign	Het
Lrp4	C	G	2: 91,338,914 (GRCm39)	P1782A	possibly damaging	Het
Map3k1	A	G	13: 111,885,478 (GRCm39)	S1480P	probably damaging	Het
Mark4	G	T	7: 19,160,015 (GRCm39)	N748K	probably benign	Het
Mrpl38	G	A	11: 116,025,900 (GRCm39)	T142M	probably damaging	Het
Mrpl41	T	C	2: 24,864,481 (GRCm39)	T64A	probably benign	Het
Mrps2	G	A	2: 28,359,764 (GRCm39)	R207K	possibly damaging	Het
Myo5a	A	T	9: 75,099,726 (GRCm39)	E96D		Het
Nbas	A	T	12: 13,633,417 (GRCm39)	E2274V	probably damaging	Het
Or4x13	T	C	2: 90,231,338 (GRCm39)	F111S	probably damaging	Het
Or51a8	T	C	7: 102,549,652 (GRCm39)	I26T	probably benign	Het
Or51ac3	T	C	7: 103,213,850 (GRCm39)	D212G	probably damaging	Het
Or5m10b	T	C	2: 85,699,278 (GRCm39)	L114P	possibly damaging	Het
Or5m10b	T	A	2: 85,699,819 (GRCm39)	N294K	probably damaging	Het
Or6c35	T	A	10: 129,169,368 (GRCm39)	I206N	possibly damaging	Het
Pcdhga12	T	A	18: 37,900,288 (GRCm39)	D373E	probably damaging	Het
Pgd	A	C	4: 149,235,596 (GRCm39)	F395V	probably damaging	Het
Pi16	A	G	17: 29,538,363 (GRCm39)	M59V	possibly damaging	Het
Pik3r5	A	T	11: 68,381,720 (GRCm39)	T255S	probably benign	Het
Plch2	A	T	4: 155,068,516 (GRCm39)	V1370E	probably benign	Het
Plec	A	G	15: 76,067,153 (GRCm39)	I1309T	unknown	Het
Ppp2r3d	A	T	9: 124,440,831 (GRCm38)	S22R		Het
Pramel26	A	G	4: 143,542,609 (GRCm39)	C4R	probably damaging	Het
Ptk2b	C	A	14: 66,413,154 (GRCm39)	E342*	probably null	Het
Ptpn23	T	C	9: 110,215,226 (GRCm39)		probably null	Het
Rfx8	A	C	1: 39,722,850 (GRCm39)	S256A	probably damaging	Het
Rnf115	C	T	3: 96,665,337 (GRCm39)	T69I	probably damaging	Het
Rnf213	A	G	11: 119,370,457 (GRCm39)	Y4753C		Het
S100a10	A	C	3: 93,471,590 (GRCm39)	D58A	possibly damaging	Het
Serpina12	T	C	12: 104,004,317 (GRCm39)	K105R	probably benign	Het
Slc20a2	G	A	8: 23,028,900 (GRCm39)	G124S	probably damaging	Het
Stab2	ACC	AC	10: 86,692,561 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,526,635 (GRCm39)	T964N	probably benign	Het
Stxbp5	T	A	10: 9,774,938 (GRCm39)	I72F	probably damaging	Het
Sumf2	T	A	5: 129,891,482 (GRCm39)	M282K	possibly damaging	Het
Tle7	T	C	8: 110,837,580 (GRCm39)	F375L	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tmem185b	G	T	1: 119,454,613 (GRCm39)	V125L	probably benign	Het
Tmtc1	A	G	6: 148,144,714 (GRCm39)	M887T	probably damaging	Het
Tnfaip8	C	T	18: 50,223,512 (GRCm39)	Q83*	probably null	Het
Tnks	A	G	8: 35,306,089 (GRCm39)	V1162A	probably damaging	Het
Tomm70a	T	A	16: 56,961,072 (GRCm39)	Y342N	possibly damaging	Het
Tpo	T	A	12: 30,125,875 (GRCm39)	D828V	probably damaging	Het
Ugt8a	A	T	3: 125,708,338 (GRCm39)	N257K	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vim	T	A	2: 13,579,703 (GRCm39)	M154K	probably damaging	Het
Virma	G	T	4: 11,486,045 (GRCm39)	M1I	probably null	Het
Zfp715	A	T	7: 42,950,653 (GRCm39)	M100K	probably benign	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zmynd8	A	T	2: 165,680,772 (GRCm39)	D236E	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
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

Predicted Primers

PCR Primer
(F):5'- TACTGGTTTACGAAGGGCGC -3'
(R):5'- TCGAAATGCTGTCATCGGAG -3'

Sequencing Primer
(F):5'- AGCCATGCCGGTACTGTC -3'
(R):5'- AAGAGCCATCCTGTCCTCGAG -3'

Posted On

2022-10-06