Mutagenetix > Incidental Mutation

Incidental Mutation 'RF001:Matn3'

602518

Institutional Source

Beutler Lab

Gene Symbol

Matn3

Ensembl Gene

ENSMUSG00000020583

Gene Name

matrilin 3

Synonyms

Accession Numbers

Essential gene?

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

Stock #

RF001 (G1)

Quality Score

211.009

Status

Not validated

Chromosome

Chromosomal Location

8997929-9022028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9008797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 303 (D303E)

Ref Sequence

ENSEMBL: ENSMUSP00000020899 (fasta)

Gene Model

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

AlphaFold

O35701

Predicted Effect

probably benign
Transcript: ENSMUST00000020899
AA Change: D303E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000020899
Gene: ENSMUSG00000020583
AA Change: D303E

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

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	G	GTGGCTGCTA	1: 82,891,311 (GRCm39)		probably benign	Het
Acer1	A	G	17: 57,265,909 (GRCm39)	V122A	probably benign	Het
Adam34l	T	G	8: 44,079,942 (GRCm39)	D94A	possibly damaging	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,974 (GRCm39)		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,479,405 (GRCm39)		probably benign	Het
Atp13a1	C	A	8: 70,252,720 (GRCm39)	A680D	probably damaging	Het
Blm	CGCCTCCTCCTC	CGCCTCCTCCTCAGCCTCCTCCTC	7: 80,162,651 (GRCm39)		probably benign	Het
Blm	CTCCTCC	CTCCTCCTCCTCGTCCTCC	7: 80,162,675 (GRCm39)		probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC	7: 80,162,654 (GRCm39)		probably benign	Het
Cad	GT	G	5: 31,217,556 (GRCm39)		probably benign	Het
Calhm1	GC	GCTGTGGCTGTGTC	19: 47,129,715 (GRCm39)		probably benign	Het
Casz1	CACA	C	4: 149,036,761 (GRCm39)		probably benign	Het
Cherp	GACCTGGA	G	8: 73,215,893 (GRCm39)		probably null	Het
Chga	AGC	AGCTGC	12: 102,527,682 (GRCm39)		probably benign	Het
Coq7	A	G	7: 118,132,405 (GRCm39)	S24P	probably benign	Het
Cul1	T	C	6: 47,501,515 (GRCm39)	V734A	possibly damaging	Het
Cyb5r4	GCCCAGGGATGTGACAGACACACT	GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT	9: 86,922,469 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,770,286 (GRCm39)	F521I	possibly damaging	Het
Fam171b	GCAGCA	GCAGCATCAGCA	2: 83,643,230 (GRCm39)		probably benign	Het
Fat1	T	G	8: 45,442,003 (GRCm39)	S1102A	probably benign	Het
Gab3	CTT	CTTTTT	X: 74,043,624 (GRCm39)		probably benign	Het
Gm14412	T	C	2: 177,008,894 (GRCm39)	I52V	probably benign	Het
Gm5414	T	C	15: 101,536,388 (GRCm39)	E79G	probably benign	Het
Gpc5	G	A	14: 115,654,590 (GRCm39)	S470N	probably benign	Het
Grin2b	A	G	6: 136,021,238 (GRCm39)	V21A	probably benign	Het
Hecw1	C	A	13: 14,472,009 (GRCm39)	C553F	probably damaging	Het
Hsd3b6	T	A	3: 98,713,756 (GRCm39)	H181L	probably benign	Het
Il2	CCAGGTGCTGCTGC	CC	3: 37,179,911 (GRCm39)		probably benign	Het
Inpp5f	G	A	7: 128,296,807 (GRCm39)	G1053R	probably damaging	Het
Kcnma1	T	G	14: 23,361,765 (GRCm39)	Y1142S	probably damaging	Het
Kctd8	T	C	5: 69,267,775 (GRCm39)	K445R	possibly damaging	Het
Kmt2b	CC	CCTCCTTC	7: 30,285,807 (GRCm39)		probably benign	Het
Kmt2c	TG	TGTTGCGG	5: 25,520,773 (GRCm39)		probably benign	Het
Krtap28-10	CACCAC	CACCACCGCCACCGCAACCAC	1: 83,020,003 (GRCm39)		probably benign	Het
Krtap28-10	CACAGCCACAGCCACCACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC	1: 83,019,976 (GRCm39)		probably benign	Het
Krtap28-10	GCCACCACAGC	GCCACCACAGCCACATCCACCACAGC	1: 83,020,001 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,059,897 (GRCm39)	D662G		Het
Lce1m	AC	ACTGCTGCTGCCCC	3: 92,925,459 (GRCm39)		probably benign	Het
Lce1m	GCTGCCACC	GCTGCCACCACTCCTGCCACC	3: 92,925,576 (GRCm39)		probably benign	Het
Lmo4	A	C	3: 143,907,623 (GRCm39)	S63A	possibly damaging	Het
Lrrk2	T	C	15: 91,620,836 (GRCm39)	I952T	probably benign	Het
Lyst	T	C	13: 13,810,426 (GRCm39)	F699L	probably benign	Het
Me1	A	G	9: 86,464,876 (GRCm39)	Y545H	probably damaging	Het
Mettl3	A	T	14: 52,537,756 (GRCm39)	V68E	probably benign	Het
Mptx2	T	C	1: 173,102,536 (GRCm39)	N51S	probably benign	Het
Mylk	A	G	16: 34,699,741 (GRCm39)	D368G	probably benign	Het
Myom2	T	C	8: 15,131,418 (GRCm39)	V372A	possibly damaging	Het
Neb	T	C	2: 52,085,433 (GRCm39)	D5569G	probably damaging	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,030 (GRCm39)		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,001,061 (GRCm39)		probably benign	Het
Pop1	G	A	15: 34,502,583 (GRCm39)	G90D	probably damaging	Het
Rbm12	CC	CCGGGTATTGTGGGACCAGTTATTGCGGGAGC	2: 155,937,995 (GRCm39)		probably benign	Het
Sertad4	T	C	1: 192,529,486 (GRCm39)	Y110C	probably damaging	Het
Setd1a	GGTAGTGGT	GGTAGTGGTAGTAGTGGT	7: 127,384,486 (GRCm39)		probably benign	Het
Smarca2	ACA	ACAACAGCA	19: 26,608,386 (GRCm39)		probably benign	Het
Smarca2	AGC	AGCCCCGGC	19: 26,608,421 (GRCm39)		probably benign	Het
Supt20	AGCA	AGCACCCGCA	3: 54,635,083 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,968,811 (GRCm39)		probably benign	Het
Tecpr1	A	G	5: 144,154,204 (GRCm39)	F83S	probably damaging	Het
Triobp	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	15: 78,851,227 (GRCm39)		probably benign	Het
Vmn1r48	A	T	6: 90,013,186 (GRCm39)	M213K	probably benign	Het
Zc3h4	CCC	CCCTGACATGCATCC	7: 16,163,612 (GRCm39)		probably benign	Het
Zscan29	T	C	2: 120,994,477 (GRCm39)	N503D	possibly damaging	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
IGL02442:Matn3	APN	12	9,017,678 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- TTTGTTGGTGGAAGAACAAGACC -3'
(R):5'- CCTTCAGCAGCCATTAGGTTGG -3'

Sequencing Primer
(F):5'- GACCAGAAATTCCATCAGTTCC -3'
(R):5'- GCGGGTGACTGAGTACACTG -3'

Posted On

2019-12-04