Mutagenetix > Incidental Mutation

Incidental Mutation 'R6180:Loxl4'

488047

Institutional Source

Beutler Lab

Gene Symbol

Loxl4

Ensembl Gene

ENSMUSG00000025185

Gene Name

lysyl oxidase-like 4

Synonyms

4833426I20Rik

MMRRC Submission

044322-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6180 (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 T at 42596791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 60 (D60E)

Ref Sequence

ENSEMBL: ENSMUSP00000126686 (fasta)

Gene Model

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

AlphaFold

Q924C6

Predicted Effect

probably damaging
Transcript: ENSMUST00000026190
AA Change: D60E

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

SMART Domains

Protein: ENSMUSP00000026190
Gene: ENSMUSG00000025185
AA Change: D60E

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: D60E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125803
Gene: ENSMUSG00000025185
AA Change: D60E

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

possibly damaging
Transcript: ENSMUST00000166128
AA Change: D73E

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126552
Gene: ENSMUSG00000025185
AA Change: D73E

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: D60E

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

SMART Domains

Protein: ENSMUSP00000126686
Gene: ENSMUSG00000025185
AA Change: D60E

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	A	G	8: 41,279,610 (GRCm39)	N667S	probably benign	Het
Ap4e1	T	A	2: 126,908,508 (GRCm39)	C1085*	probably null	Het
BC035044	A	T	6: 128,861,997 (GRCm39)		probably benign	Het
Bltp2	A	G	11: 78,164,084 (GRCm39)	M1142V	possibly damaging	Het
Capn11	T	C	17: 45,941,692 (GRCm39)	D693G	probably damaging	Het
Cavin4	A	T	4: 48,663,917 (GRCm39)	H99L	possibly damaging	Het
Ccdc86	T	C	19: 10,925,945 (GRCm39)	K218R	possibly damaging	Het
Ccno	T	C	13: 113,126,379 (GRCm39)	S283P	probably damaging	Het
Ccser2	A	T	14: 36,662,276 (GRCm39)	S303T	probably benign	Het
Cd53	T	A	3: 106,674,680 (GRCm39)	N129I	probably damaging	Het
Cd63	G	A	10: 128,747,933 (GRCm39)		probably null	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Daam2	A	G	17: 49,776,694 (GRCm39)	M797T	probably damaging	Het
Dennd2b	A	C	7: 109,156,095 (GRCm39)	D218E	probably benign	Het
Dmgdh	G	A	13: 93,888,794 (GRCm39)	V811I	possibly damaging	Het
Dpysl4	A	T	7: 138,670,250 (GRCm39)	T123S	probably damaging	Het
Erap1	A	G	13: 74,814,345 (GRCm39)	E428G	possibly damaging	Het
Fam124b	T	A	1: 80,177,902 (GRCm39)	T366S	possibly damaging	Het
Fbxw22	T	C	9: 109,215,747 (GRCm39)	D167G	probably damaging	Het
Flrt2	C	T	12: 95,746,012 (GRCm39)	Q117*	probably null	Het
Ftsj3	A	T	11: 106,144,166 (GRCm39)		probably null	Het
Ggn	A	G	7: 28,872,474 (GRCm39)	Y618C	probably damaging	Het
Glis1	T	A	4: 107,484,710 (GRCm39)	S402T	probably benign	Het
Gm4781	T	A	10: 100,232,349 (GRCm39)		noncoding transcript	Het
Gm7168	T	A	17: 14,168,858 (GRCm39)	I75K	probably damaging	Het
Gm7298	C	T	6: 121,737,782 (GRCm39)	H348Y	probably benign	Het
Gria1	G	T	11: 57,133,618 (GRCm39)	R499L	probably damaging	Het
Gtf2ird2	C	T	5: 134,245,389 (GRCm39)	T549M	probably damaging	Het
H2-M10.6	T	A	17: 37,125,178 (GRCm39)	V323E	probably damaging	Het
Hoxb3	G	A	11: 96,236,929 (GRCm39)	V336I	probably benign	Het
Il12b	G	A	11: 44,303,453 (GRCm39)	A327T	probably benign	Het
Inpp4a	C	A	1: 37,419,183 (GRCm39)	P588T	probably benign	Het
Kctd12	C	A	14: 103,219,027 (GRCm39)	D284Y	probably damaging	Het
Kif28	C	A	1: 179,525,337 (GRCm39)		probably null	Het
Krt1c	T	C	15: 101,723,479 (GRCm39)	N332S	probably benign	Het
Lama2	G	A	10: 26,857,495 (GRCm39)	T3118I	probably benign	Het
Lgi1	T	C	19: 38,253,404 (GRCm39)	L25P	probably damaging	Het
Lhx3	T	A	2: 26,091,503 (GRCm39)	M269L	probably benign	Het
Lmtk2	A	T	5: 144,112,160 (GRCm39)	E960V	probably damaging	Het
Lrp2	T	A	2: 69,333,868 (GRCm39)	N1458Y	possibly damaging	Het
Ltn1	A	T	16: 87,224,677 (GRCm39)	S16T	probably damaging	Het
Mllt6	G	A	11: 97,569,362 (GRCm39)	A875T	possibly damaging	Het
Mrgprb4	A	T	7: 47,848,574 (GRCm39)	I118N	probably damaging	Het
Mrps7	A	G	11: 115,495,707 (GRCm39)	T82A	possibly damaging	Het
Mug2	A	G	6: 122,056,565 (GRCm39)	E1170G	probably benign	Het
Nav2	A	G	7: 49,107,915 (GRCm39)	H647R	probably benign	Het
Nbeal2	T	C	9: 110,454,215 (GRCm39)	Y2710C	probably damaging	Het
Ndc1	A	T	4: 107,268,395 (GRCm39)	I644L	possibly damaging	Het
Or4c108	T	G	2: 88,804,226 (GRCm39)	N3T	probably damaging	Het
Or8g33	A	T	9: 39,338,008 (GRCm39)	Y120N	probably damaging	Het
Padi4	A	G	4: 140,483,784 (GRCm39)	M352T	possibly damaging	Het
Pals1	C	T	12: 78,864,084 (GRCm39)	H216Y	probably benign	Het
Pcdhgc3	C	A	18: 37,939,990 (GRCm39)	D130E	probably damaging	Het
Pde6a	A	T	18: 61,417,163 (GRCm39)		probably null	Het
Pdpn	C	T	4: 143,025,792 (GRCm39)	G12R	probably damaging	Het
Pot1a	A	T	6: 25,771,620 (GRCm39)	D200E	probably benign	Het
Ppa1	A	T	10: 61,503,431 (GRCm39)	D236V	probably benign	Het
Ptprn2	T	A	12: 116,822,739 (GRCm39)	S273T	probably benign	Het
Rasgrf2	T	C	13: 92,165,609 (GRCm39)	E297G	probably damaging	Het
Rgl1	T	C	1: 152,394,923 (GRCm39)	N750S	probably damaging	Het
Rinl	A	G	7: 28,496,365 (GRCm39)	N449D	probably benign	Het
Samd8	T	A	14: 21,825,093 (GRCm39)	H79Q	probably benign	Het
Scn11a	T	C	9: 119,583,933 (GRCm39)	I1561V	probably benign	Het
Slc39a12	T	C	2: 14,400,938 (GRCm39)	L105P	probably benign	Het
Slc7a12	A	T	3: 14,546,200 (GRCm39)		probably null	Het
Slco1a4	A	G	6: 141,763,546 (GRCm39)	I390T	possibly damaging	Het
Snta1	T	C	2: 154,219,102 (GRCm39)	N411S	probably benign	Het
Srgap2	T	C	1: 131,277,279 (GRCm39)	T323A	probably benign	Het
Ssh2	G	T	11: 77,344,291 (GRCm39)	V759L	probably benign	Het
Swap70	G	T	7: 109,869,188 (GRCm39)	R327L	probably damaging	Het
Tbc1d4	C	A	14: 101,696,206 (GRCm39)	C914F	probably benign	Het
Tbx3	A	G	5: 119,812,132 (GRCm39)	D144G	probably damaging	Het
Tgfbr2	T	C	9: 115,939,212 (GRCm39)	K205R	possibly damaging	Het
Tmem94	A	T	11: 115,681,857 (GRCm39)		probably null	Het
Usf3	T	A	16: 44,041,468 (GRCm39)	F1983I	probably damaging	Het
Ush2a	T	A	1: 188,132,068 (GRCm39)	C763*	probably null	Het
Vmn1r115	A	C	7: 20,578,640 (GRCm39)	L91V	probably damaging	Het
Vmn1r201	A	T	13: 22,659,499 (GRCm39)	I238F	possibly damaging	Het
Vmn1r28	T	A	6: 58,242,476 (GRCm39)	S106R	probably damaging	Het
Vmn1r82	T	C	7: 12,039,012 (GRCm39)	V95A	probably damaging	Het
Vrk3	A	T	7: 44,419,035 (GRCm39)	N371I	possibly damaging	Het
Wnt8b	C	A	19: 44,500,082 (GRCm39)	A223E	probably benign	Het
Xirp2	T	C	2: 67,335,921 (GRCm39)		probably null	Het
Xpo7	T	C	14: 70,920,243 (GRCm39)	N642S	probably benign	Het
Ythdc1	G	A	5: 86,975,953 (GRCm39)	R520H	possibly damaging	Het
Zfp367	T	C	13: 64,283,204 (GRCm39)	E316G	probably damaging	Het
Zfp488	T	A	14: 33,692,751 (GRCm39)	R137S	possibly damaging	Het
Zfp532	G	T	18: 65,789,542 (GRCm39)	V994L	probably benign	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
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
R8013:Loxl4	UTSW	19	42,596,115 (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'- TCATGAAAGGTTGGGTAGGC -3'
(R):5'- AGGCGCTCTGAAATCACCATG -3'

Sequencing Primer
(F):5'- AGTTCTATTGGAGCCTCATCAAGC -3'
(R):5'- GCGCTCTGAAATCACCATGATGTG -3'

Posted On

2017-10-10