Mutagenetix > Incidental Mutation

Incidental Mutation 'R8013:Loxl4'

617040

Institutional Source

Beutler Lab

Gene Symbol

Loxl4

Ensembl Gene

ENSMUSG00000025185

Gene Name

lysyl oxidase-like 4

Synonyms

4833426I20Rik

MMRRC Submission

067453-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42582421-42601252 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42596115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 113 (C113R)

Ref Sequence

ENSEMBL: ENSMUSP00000125803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026190] [ENSMUST00000164786] [ENSMUST00000166128] [ENSMUST00000171432]

AlphaFold

Q924C6

Predicted Effect

probably damaging
Transcript: ENSMUST00000026190
AA Change: C113R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026190
Gene: ENSMUSG00000025185
AA Change: C113R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
SR	33	134	1.57e-49	SMART
SR	160	288	3.96e-14	SMART
SR	312	412	2.6e-41	SMART
SR	422	530	5.41e-30	SMART
Pfam:Lysyl_oxidase	534	737	1.3e-113	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164786
AA Change: C113R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125803
Gene: ENSMUSG00000025185
AA Change: C113R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
SR	33	134	1.57e-49	SMART
SR	160	288	3.96e-14	SMART
SR	313	413	2.6e-41	SMART
SR	423	531	5.41e-30	SMART
Pfam:Lysyl_oxidase	535	735	1.8e-101	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000126552
Gene: ENSMUSG00000025185
AA Change: C126R

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
SR	46	147	1.57e-49	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171432
AA Change: C113R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126686
Gene: ENSMUSG00000025185
AA Change: C113R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
SR	33	134	1.57e-49	SMART
SR	160	288	3.96e-14	SMART
SR	312	412	2.6e-41	SMART
SR	422	530	5.41e-30	SMART
Pfam:Lysyl_oxidase	534	737	1.3e-113	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	C	A	15: 12,824,615 (GRCm39)	D7Y	probably benign	Het
Ahnak	A	G	19: 8,986,699 (GRCm39)	D2661G	unknown	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Apob	T	A	12: 8,060,798 (GRCm39)	N3093K	possibly damaging	Het
Baz2a	C	T	10: 127,961,157 (GRCm39)	R1627C	probably benign	Het
Baz2a	T	G	10: 127,961,161 (GRCm39)	V1628G	possibly damaging	Het
Bbs7	A	T	3: 36,648,536 (GRCm39)	I404K	probably damaging	Het
Cacna1g	T	C	11: 94,347,796 (GRCm39)	Y764C	probably damaging	Het
Casr	G	A	16: 36,330,006 (GRCm39)	L443F	probably benign	Het
Cfap43	T	A	19: 47,761,548 (GRCm39)	I849F	probably damaging	Het
Cntn3	A	T	6: 102,176,278 (GRCm39)	H812Q	probably benign	Het
Cog1	A	G	11: 113,546,990 (GRCm39)	D528G	probably damaging	Het
Depdc5	C	T	5: 33,131,186 (GRCm39)	T1229M	probably benign	Het
Dis3	T	A	14: 99,314,835 (GRCm39)	R954W	possibly damaging	Het
Disp2	T	A	2: 118,620,163 (GRCm39)	Y298*	probably null	Het
Dnai3	T	C	3: 145,787,040 (GRCm39)	T332A	probably damaging	Het
Dock2	A	C	11: 34,596,677 (GRCm39)	I393S	probably damaging	Het
Dtd1	A	G	2: 144,459,252 (GRCm39)	D92G	probably damaging	Het
Eef2	T	A	10: 81,014,030 (GRCm39)	V121D	probably damaging	Het
Eml1	T	A	12: 108,487,938 (GRCm39)	I550N	probably benign	Het
Entpd7	A	G	19: 43,716,494 (GRCm39)	D496G	probably benign	Het
Ets2	T	A	16: 95,517,144 (GRCm39)	L292Q	probably damaging	Het
Ext1	T	C	15: 52,939,283 (GRCm39)	I589V	possibly damaging	Het
Fam20a	T	A	11: 109,576,332 (GRCm39)	E142D	possibly damaging	Het
Farp1	T	A	14: 121,479,813 (GRCm39)	I368N	probably damaging	Het
Fars2	C	T	13: 36,389,068 (GRCm39)	Q186*	probably null	Het
Fbn2	T	C	18: 58,237,153 (GRCm39)	T617A	possibly damaging	Het
Fbxo38	T	C	18: 62,663,882 (GRCm39)	E203G	possibly damaging	Het
Fcgbpl1	G	A	7: 27,836,966 (GRCm39)	R295H	probably benign	Het
Fhdc1	A	T	3: 84,381,946 (GRCm39)	M1K	probably null	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gm28363	A	G	1: 117,654,534 (GRCm39)	R58G	probably benign	Het
Gm8356	A	T	14: 17,692,450 (GRCm39)	N58K	probably damaging	Het
Grsf1	A	G	5: 88,823,615 (GRCm39)		probably null	Het
Hephl1	T	A	9: 14,965,905 (GRCm39)	D1016V	possibly damaging	Het
Hrob	A	G	11: 102,148,725 (GRCm39)	N379D	probably benign	Het
Kcnma1	T	A	14: 23,423,211 (GRCm39)	I831F	probably benign	Het
Krt78	T	C	15: 101,856,977 (GRCm39)	R377G	probably damaging	Het
Lama2	T	C	10: 27,220,494 (GRCm39)	H457R	probably benign	Het
Lmnb1	T	A	18: 56,841,431 (GRCm39)	Y83N	probably damaging	Het
Lrba	A	T	3: 86,325,278 (GRCm39)	D1912V	probably damaging	Het
Macf1	T	A	4: 123,420,619 (GRCm39)	T212S	probably benign	Het
Map3k4	A	T	17: 12,489,918 (GRCm39)	C504*	probably null	Het
Map4k4	T	C	1: 40,001,372 (GRCm39)	I53T	unknown	Het
Mtcl2	A	G	2: 156,872,706 (GRCm39)		probably null	Het
Myo5b	C	T	18: 74,893,970 (GRCm39)	Q1700*	probably null	Het
Npas2	T	C	1: 39,377,146 (GRCm39)	F503L	probably benign	Het
Nrg1	A	T	8: 32,439,951 (GRCm39)	S149T	probably benign	Het
Or13c7	T	A	4: 43,854,958 (GRCm39)	F216L	probably benign	Het
Or2ag15	C	T	7: 106,340,824 (GRCm39)	V106I	probably benign	Het
Or4a71	A	G	2: 89,358,280 (GRCm39)	V158A	probably benign	Het
Or9r7	T	A	10: 129,962,647 (GRCm39)	K93M	probably damaging	Het
Pdia6	T	C	12: 17,323,966 (GRCm39)	L66S	probably damaging	Het
Prss35	T	C	9: 86,637,478 (GRCm39)	S83P	probably damaging	Het
Psme4	G	A	11: 30,754,320 (GRCm39)	M192I	probably benign	Het
Ptprs	A	C	17: 56,742,994 (GRCm39)	S383A	probably damaging	Het
Resf1	T	G	6: 149,230,368 (GRCm39)	V1138G	probably damaging	Het
Sar1b	C	T	11: 51,670,621 (GRCm39)	P55L	possibly damaging	Het
Sgsh	A	G	11: 119,243,521 (GRCm39)	V67A	probably damaging	Het
Slc16a4	A	G	3: 107,218,794 (GRCm39)	Y465C	probably damaging	Het
Stard9	T	C	2: 120,518,582 (GRCm39)	I502T	probably damaging	Het
Sugp2	T	A	8: 70,704,292 (GRCm39)	Y610N	probably damaging	Het
Tbc1d24	G	A	17: 24,401,795 (GRCm39)	P385S	possibly damaging	Het
Tm4sf1	T	C	3: 57,200,319 (GRCm39)	I99V	probably benign	Het
Tpr	G	T	1: 150,274,359 (GRCm39)	V163L	probably benign	Het
Usp31	T	C	7: 121,248,480 (GRCm39)	S988G	probably damaging	Het
Zbtb26	T	A	2: 37,327,013 (GRCm39)		probably null	Het
Zfp536	T	C	7: 37,269,035 (GRCm39)	N127S	probably damaging	Het
Zfp750	T	A	11: 121,403,843 (GRCm39)	D344V	possibly damaging	Het
Zmym5	T	A	14: 57,031,883 (GRCm39)	K408N	possibly damaging	Het

Other mutations in Loxl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Loxl4	APN	19	42,585,988 (GRCm39)	missense	probably damaging	1.00
IGL02063:Loxl4	APN	19	42,596,778 (GRCm39)	missense	probably benign	0.03
IGL02490:Loxl4	APN	19	42,593,269 (GRCm39)	missense	probably benign
IGL02498:Loxl4	APN	19	42,593,412 (GRCm39)	missense	probably benign	0.27
IGL03107:Loxl4	APN	19	42,593,718 (GRCm39)	missense	probably benign	0.12
IGL03296:Loxl4	APN	19	42,587,262 (GRCm39)	splice site	probably benign
R1145:Loxl4	UTSW	19	42,596,994 (GRCm39)	unclassified	probably benign
R1697:Loxl4	UTSW	19	42,593,379 (GRCm39)	missense	possibly damaging	0.86
R2126:Loxl4	UTSW	19	42,592,402 (GRCm39)	missense	probably damaging	1.00
R2128:Loxl4	UTSW	19	42,592,402 (GRCm39)	missense	probably damaging	1.00
R2148:Loxl4	UTSW	19	42,592,631 (GRCm39)	splice site	probably null
R2159:Loxl4	UTSW	19	42,588,446 (GRCm39)	missense	probably damaging	1.00
R3624:Loxl4	UTSW	19	42,596,015 (GRCm39)	missense	probably benign	0.28
R4030:Loxl4	UTSW	19	42,596,798 (GRCm39)	missense	probably damaging	1.00
R4181:Loxl4	UTSW	19	42,596,030 (GRCm39)	missense	probably benign	0.00
R4302:Loxl4	UTSW	19	42,596,030 (GRCm39)	missense	probably benign	0.00
R4700:Loxl4	UTSW	19	42,596,052 (GRCm39)	missense	probably benign	0.07
R4701:Loxl4	UTSW	19	42,596,052 (GRCm39)	missense	probably benign	0.07
R4719:Loxl4	UTSW	19	42,596,030 (GRCm39)	missense	probably benign	0.00
R4724:Loxl4	UTSW	19	42,596,785 (GRCm39)	missense	probably benign	0.23
R4750:Loxl4	UTSW	19	42,593,443 (GRCm39)	missense	probably damaging	1.00
R4953:Loxl4	UTSW	19	42,599,133 (GRCm39)	unclassified	probably benign
R5579:Loxl4	UTSW	19	42,592,729 (GRCm39)	missense	probably damaging	1.00
R5840:Loxl4	UTSW	19	42,587,154 (GRCm39)	missense	probably damaging	1.00
R5856:Loxl4	UTSW	19	42,583,805 (GRCm39)	missense	possibly damaging	0.89
R5879:Loxl4	UTSW	19	42,596,066 (GRCm39)	missense	probably benign	0.09
R6137:Loxl4	UTSW	19	42,587,232 (GRCm39)	missense	probably damaging	1.00
R6180:Loxl4	UTSW	19	42,596,791 (GRCm39)	missense	probably damaging	1.00
R6324:Loxl4	UTSW	19	42,583,817 (GRCm39)	missense	probably benign	0.00
R6347:Loxl4	UTSW	19	42,596,709 (GRCm39)	missense	probably damaging	1.00
R6646:Loxl4	UTSW	19	42,587,220 (GRCm39)	missense	probably damaging	1.00
R6788:Loxl4	UTSW	19	42,596,792 (GRCm39)	missense	probably damaging	1.00
R7045:Loxl4	UTSW	19	42,595,074 (GRCm39)	missense	probably damaging	1.00
R8072:Loxl4	UTSW	19	42,596,021 (GRCm39)	missense	probably damaging	1.00
R8546:Loxl4	UTSW	19	42,596,027 (GRCm39)	missense	probably benign
R9124:Loxl4	UTSW	19	42,596,099 (GRCm39)	missense	probably damaging	1.00
R9202:Loxl4	UTSW	19	42,593,452 (GRCm39)	missense	probably benign	0.00
R9286:Loxl4	UTSW	19	42,586,047 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- GCACGAATGGCTTCTCCTTC -3'
(R):5'- TATGGCCACTAAGACCCCAGAG -3'

Sequencing Primer
(F):5'- CACTCTGCAGGAGGCTTTCTG -3'
(R):5'- AGAGAACCAACTCCCTTTCCCTTG -3'

Posted On

2020-01-23