Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Loxl4'

192369

Institutional Source

Beutler Lab

Gene Symbol

Loxl4

Ensembl Gene

ENSMUSG00000025185

Gene Name

lysyl oxidase-like 4

Synonyms

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1697 (G1)

Quality Score

121

Status

Validated

Chromosome

Chromosomal Location

42593982-42612813 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42604940 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 264 (V264A)

Ref Sequence

ENSEMBL: ENSMUSP00000125803 (fasta)

Gene Model

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

AlphaFold

Q924C6

Predicted Effect

probably benign
Transcript: ENSMUST00000026190
AA Change: V264A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000026190
Gene: ENSMUSG00000025185
AA Change: V264A

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

noncoding transcript
Transcript: ENSMUST00000164014

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164786
AA Change: V264A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125803
Gene: ENSMUSG00000025185
AA Change: V264A

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

probably benign
Transcript: ENSMUST00000166128

SMART Domains

Protein: ENSMUSP00000126552
Gene: ENSMUSG00000025185

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171432
AA Change: V264A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000126686
Gene: ENSMUSG00000025185
AA Change: V264A

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

Meta Mutation Damage Score

0.0911

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,845,114	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 125,369,029		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,154,347	C1579S	probably damaging	Het
Acsl3	T	C	1: 78,705,397		probably benign	Het
Acsl6	C	A	11: 54,329,966	T244K	probably damaging	Het
Adam26b	T	A	8: 43,520,963	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,517,611	T608M	probably damaging	Het
Aldh2	A	G	5: 121,578,341		probably null	Het
Alms1	A	G	6: 85,622,454	T1890A	possibly damaging	Het
C87977	A	C	4: 144,208,592	I193S	probably damaging	Het
Capn7	C	T	14: 31,360,160	T441M	probably damaging	Het
Cd9	A	T	6: 125,464,404	C85S	probably damaging	Het
Chrm3	T	C	13: 9,878,758	T81A	probably damaging	Het
Ctif	A	G	18: 75,624,305		probably benign	Het
Dcc	T	A	18: 71,370,737	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,679,780	V422A	probably damaging	Het
Enthd1	A	G	15: 80,452,923	S437P	probably damaging	Het
Fads1	A	G	19: 10,194,100		probably benign	Het
Fat3	T	A	9: 15,944,880	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,502,461	V85E	possibly damaging	Het
Fem1b	T	C	9: 62,797,174	D268G	possibly damaging	Het
Focad	T	C	4: 88,408,988	L1772P	probably damaging	Het
Gm9573	A	C	17: 35,620,648		probably benign	Het
Gm9833	G	A	3: 10,089,553	V461I	possibly damaging	Het
Gtf3a	C	A	5: 146,951,913	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,621,000		probably null	Het
Herc2	T	A	7: 56,153,905	F2229L	probably benign	Het
Hs3st4	A	T	7: 124,396,857	I249L	probably benign	Het
Iqsec1	A	T	6: 90,809,770	Y7*	probably null	Het
Klk1b1	T	A	7: 43,970,326	M103K	probably benign	Het
Krt5	A	G	15: 101,710,585	V287A	probably benign	Het
Lgals12	T	A	19: 7,604,165	Q59L	possibly damaging	Het
Lrmp	A	G	6: 145,137,615		probably benign	Het
Lrp1b	T	C	2: 40,822,683	D3099G	probably damaging	Het
Mical3	G	A	6: 121,007,408	T169I	possibly damaging	Het
Myh7b	A	C	2: 155,620,134	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nsd1	A	T	13: 55,214,059		probably null	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr152	T	A	2: 87,782,585	I15N	possibly damaging	Het
Olfr190	A	G	16: 59,074,907	Y58H	probably damaging	Het
Olfr331	A	T	11: 58,501,676	S293R	probably damaging	Het
Olfr346	C	T	2: 36,688,247	L82F	probably damaging	Het
Olfr769	T	C	10: 129,111,868	T186A	probably benign	Het
Pcnx2	A	G	8: 125,850,348	Y982H	probably damaging	Het
Pias3	T	C	3: 96,702,225	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,376,884	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,545,623	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,561,472		probably benign	Het
Proser3	T	C	7: 30,540,021	M553V	probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Smurf2	A	T	11: 106,824,688	D664E	possibly damaging	Het
Spag9	G	A	11: 93,996,565	A99T	probably benign	Het
Stim1	T	G	7: 102,354,506	C49G	probably damaging	Het
Stk32c	T	C	7: 139,121,824	I238V	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,544,899	E133V	probably null	Het
Tmem209	A	T	6: 30,497,868	C143S	probably benign	Het
Tnr	T	G	1: 159,852,030	N191K	probably benign	Het
Vars	C	T	17: 34,998,222	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,548,060	S819G	probably benign	Het
Wls	T	C	3: 159,897,358	V136A	probably benign	Het
Ybx2	C	T	11: 69,940,061	S217L	probably benign	Het
Zfp82	T	C	7: 30,057,354	D37G	probably benign	Het

Other mutations in Loxl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Loxl4	APN	19	42597549	missense	probably damaging	1.00
IGL02063:Loxl4	APN	19	42608339	missense	probably benign	0.03
IGL02490:Loxl4	APN	19	42604830	missense	probably benign
IGL02498:Loxl4	APN	19	42604973	missense	probably benign	0.27
IGL03107:Loxl4	APN	19	42605279	missense	probably benign	0.12
IGL03296:Loxl4	APN	19	42598823	splice site	probably benign
R1145:Loxl4	UTSW	19	42608555	unclassified	probably benign
R2126:Loxl4	UTSW	19	42603963	missense	probably damaging	1.00
R2128:Loxl4	UTSW	19	42603963	missense	probably damaging	1.00
R2148:Loxl4	UTSW	19	42604192	splice site	probably null
R2159:Loxl4	UTSW	19	42600007	missense	probably damaging	1.00
R3624:Loxl4	UTSW	19	42607576	missense	probably benign	0.28
R4030:Loxl4	UTSW	19	42608359	missense	probably damaging	1.00
R4181:Loxl4	UTSW	19	42607591	missense	probably benign	0.00
R4302:Loxl4	UTSW	19	42607591	missense	probably benign	0.00
R4700:Loxl4	UTSW	19	42607613	missense	probably benign	0.07
R4701:Loxl4	UTSW	19	42607613	missense	probably benign	0.07
R4719:Loxl4	UTSW	19	42607591	missense	probably benign	0.00
R4724:Loxl4	UTSW	19	42608346	missense	probably benign	0.23
R4750:Loxl4	UTSW	19	42605004	missense	probably damaging	1.00
R4953:Loxl4	UTSW	19	42610694	unclassified	probably benign
R5579:Loxl4	UTSW	19	42604290	missense	probably damaging	1.00
R5840:Loxl4	UTSW	19	42598715	missense	probably damaging	1.00
R5856:Loxl4	UTSW	19	42595366	missense	possibly damaging	0.89
R5879:Loxl4	UTSW	19	42607627	missense	probably benign	0.09
R6137:Loxl4	UTSW	19	42598793	missense	probably damaging	1.00
R6180:Loxl4	UTSW	19	42608352	missense	probably damaging	1.00
R6324:Loxl4	UTSW	19	42595378	missense	probably benign	0.00
R6347:Loxl4	UTSW	19	42608270	missense	probably damaging	1.00
R6646:Loxl4	UTSW	19	42598781	missense	probably damaging	1.00
R6788:Loxl4	UTSW	19	42608353	missense	probably damaging	1.00
R7045:Loxl4	UTSW	19	42606635	missense	probably damaging	1.00
R8013:Loxl4	UTSW	19	42607676	missense	probably damaging	1.00
R8072:Loxl4	UTSW	19	42607582	missense	probably damaging	1.00
R8546:Loxl4	UTSW	19	42607588	missense	probably benign
R9124:Loxl4	UTSW	19	42607660	missense	probably damaging	1.00
R9202:Loxl4	UTSW	19	42605013	missense	probably benign	0.00
R9286:Loxl4	UTSW	19	42597608	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- TTCCCAAGGAGTCCAGCTCCTC -3'
(R):5'- GGAAGAGCAGCCATCCCTATCTGTG -3'

Sequencing Primer
(F):5'- TCTACCCCACTGAGCAGG -3'
(R):5'- ctcccccctcctcttatcc -3'

Posted On

2014-05-14