Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02442:Matn3'

293477

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Matn3

Ensembl Gene

ENSMUSG00000020583

Gene Name

matrilin 3

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL02442

Quality Score

Status

Chromosome

Chromosomal Location

8997929-9022028 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 9017678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 443 (C443*)

Ref Sequence

ENSEMBL: ENSMUSP00000020899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020899]

AlphaFold

O35701

Predicted Effect

probably null
Transcript: ENSMUST00000020899
AA Change: C443*

SMART Domains

Protein: ENSMUSP00000020899
Gene: ENSMUSG00000020583
AA Change: C443*

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
VWA	76	255	5.06e-51	SMART
EGF	257	300	2.02e-1	SMART
EGF	304	342	4.1e-2	SMART
EGF	346	384	4.22e-4	SMART
EGF	388	426	1.21e-4	SMART
Matrilin_ccoil	433	479	8.93e-14	SMART

Coding Region Coverage

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 von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap2	A	G	11: 80,068,032 (GRCm39)	E348G	probably damaging	Het
Ahnak	G	A	19: 8,981,380 (GRCm39)	G888D	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cfap97d1	T	C	11: 101,881,652 (GRCm39)	V116A	probably benign	Het
Csde1	T	C	3: 102,962,135 (GRCm39)	C649R	probably benign	Het
Cym	A	C	3: 107,121,601 (GRCm39)	D230E	probably damaging	Het
Dnah1	A	T	14: 31,009,835 (GRCm39)	I1911N	probably damaging	Het
Fat1	A	G	8: 45,403,360 (GRCm39)	H37R	probably benign	Het
Ggt6	T	C	11: 72,327,632 (GRCm39)	V146A	possibly damaging	Het
Glud1	T	A	14: 34,057,395 (GRCm39)	L54*	probably null	Het
Grk6	A	G	13: 55,606,750 (GRCm39)		probably benign	Het
Gsta4	G	A	9: 78,116,447 (GRCm39)	V219I	probably benign	Het
Gucy1a2	G	A	9: 3,865,385 (GRCm39)	V620M	probably damaging	Het
Hspe1	T	C	1: 55,128,201 (GRCm39)		probably benign	Het
Icmt	T	C	4: 152,383,173 (GRCm39)	V76A	possibly damaging	Het
Ifrd1	A	G	12: 40,266,316 (GRCm39)		probably benign	Het
Lgals12	T	C	19: 7,584,019 (GRCm39)		probably benign	Het
Lypla1	T	C	1: 4,902,610 (GRCm39)		probably benign	Het
Map1b	A	T	13: 99,644,706 (GRCm39)	W66R	probably damaging	Het
Mup8	T	A	4: 60,219,695 (GRCm39)	R191W	probably damaging	Het
Mycbp2	T	C	14: 103,551,811 (GRCm39)	K140R	probably benign	Het
Ndfip1	C	T	18: 38,580,789 (GRCm39)	S66L	probably damaging	Het
Neu1	A	G	17: 35,153,445 (GRCm39)	I323V	probably benign	Het
Nup205	A	T	6: 35,167,003 (GRCm39)	T341S	probably benign	Het
Or4f7	G	A	2: 111,644,336 (GRCm39)	T245I	probably benign	Het
Or5b112	T	A	19: 13,319,484 (GRCm39)	C121S	probably benign	Het
Or5b3	T	A	19: 13,388,351 (GRCm39)	N139K	probably benign	Het
Ovch2	T	A	7: 107,395,755 (GRCm39)	I88F	possibly damaging	Het
Pkd1	T	A	17: 24,784,200 (GRCm39)	S249T	probably benign	Het
Plekhg3	A	T	12: 76,625,127 (GRCm39)	Q1324L	probably benign	Het
Ppara	T	A	15: 85,685,344 (GRCm39)	V431E	probably benign	Het
Prkaa1	T	G	15: 5,206,369 (GRCm39)	H408Q	probably damaging	Het
Sap25	T	A	5: 137,640,257 (GRCm39)	N108K	probably benign	Het
Setd5	A	C	6: 113,087,341 (GRCm39)	I81L	possibly damaging	Het
Sinhcaf	A	T	6: 148,830,005 (GRCm39)		probably null	Het
Sri	T	A	5: 8,112,411 (GRCm39)	M78K	probably damaging	Het
Tyro3	A	G	2: 119,639,349 (GRCm39)	N352S	probably benign	Het
Ubr5	T	A	15: 38,038,145 (GRCm39)	E332V	possibly damaging	Het
Vmn2r19	G	T	6: 123,286,621 (GRCm39)	V85F	possibly damaging	Het
Vmn2r53	A	T	7: 12,315,656 (GRCm39)	V721D	probably damaging	Het
Vwa5a	A	G	9: 38,646,080 (GRCm39)	M483V	probably benign	Het
Zfp786	T	A	6: 47,798,301 (GRCm39)	Q212H	probably benign	Het

Other mutations in Matn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01814:Matn3	APN	12	9,002,091 (GRCm39)	missense	probably damaging	0.98
IGL02138:Matn3	APN	12	9,017,638 (GRCm39)	missense	possibly damaging	0.93
IGL02736:Matn3	APN	12	9,005,422 (GRCm39)	missense	possibly damaging	0.53
R0091:Matn3	UTSW	12	9,002,105 (GRCm39)	missense	probably damaging	0.98
R0585:Matn3	UTSW	12	9,011,103 (GRCm39)	splice site	probably benign
R0615:Matn3	UTSW	12	9,013,594 (GRCm39)	missense	probably damaging	1.00
R1424:Matn3	UTSW	12	9,011,132 (GRCm39)	missense	possibly damaging	0.91
R1571:Matn3	UTSW	12	9,005,466 (GRCm39)	missense	probably damaging	1.00
R1844:Matn3	UTSW	12	9,017,662 (GRCm39)	missense	possibly damaging	0.90
R1865:Matn3	UTSW	12	9,002,041 (GRCm39)	missense	probably damaging	1.00
R1977:Matn3	UTSW	12	9,011,110 (GRCm39)	splice site	probably benign
R3015:Matn3	UTSW	12	9,002,217 (GRCm39)	missense	probably damaging	0.97
R3018:Matn3	UTSW	12	9,013,578 (GRCm39)	missense	probably benign	0.02
R5180:Matn3	UTSW	12	9,005,374 (GRCm39)	missense	probably benign	0.38
R5308:Matn3	UTSW	12	9,002,308 (GRCm39)	frame shift	probably null
R5616:Matn3	UTSW	12	8,998,195 (GRCm39)	missense	probably benign
R5816:Matn3	UTSW	12	9,020,571 (GRCm39)	missense	probably damaging	1.00
R5849:Matn3	UTSW	12	9,008,829 (GRCm39)	missense	probably benign	0.10
R7065:Matn3	UTSW	12	9,002,472 (GRCm39)	missense	probably damaging	0.99
R7206:Matn3	UTSW	12	9,011,170 (GRCm39)	missense	probably benign	0.01
R8512:Matn3	UTSW	12	9,011,183 (GRCm39)	missense	probably benign	0.11
R8737:Matn3	UTSW	12	9,017,665 (GRCm39)	missense	possibly damaging	0.90
R8951:Matn3	UTSW	12	9,002,172 (GRCm39)	missense	probably damaging	0.99
R9022:Matn3	UTSW	12	9,002,355 (GRCm39)	missense	probably damaging	1.00
R9328:Matn3	UTSW	12	9,002,033 (GRCm39)	missense	possibly damaging	0.78
RF001:Matn3	UTSW	12	9,008,797 (GRCm39)	missense	probably benign	0.02

Posted On

2015-04-16