Mutagenetix > Incidental Mutation

Incidental Mutation 'R4014:Matn1'

311854

Institutional Source

Beutler Lab

Gene Symbol

Matn1

Ensembl Gene

ENSMUSG00000040533

Gene Name

matrilin 1, cartilage matrix protein

Synonyms

Mat1, CMP, Crtm, matrilin-1

MMRRC Submission

040951-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130671696-130682786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130679258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 304 (Q304R)

Ref Sequence

ENSEMBL: ENSMUSP00000099636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102576]

AlphaFold

P51942

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102576
AA Change: Q304R

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099636
Gene: ENSMUSG00000040533
AA Change: Q304R

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
VWA	43	225	5.5e-52	SMART
EGF	230	267	2.79e-4	SMART
VWA	277	456	1.76e-59	SMART
Matrilin_ccoil	454	500	1.8e-18	SMART

Meta Mutation Damage Score

0.0888

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

100% (49/49)

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 are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are viable, fertile and display normal cartilage development and endochondral bone formation. Mice homozygous for one targeted allele show alterations in type II collagen fibrillogenesis and fibril organization, in the absence of skeletal defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,811,559 (GRCm39)	Q1008L	probably benign	Het
Adgrg7	A	G	16: 56,562,651 (GRCm39)	F562S	probably damaging	Het
Alms1	T	A	6: 85,655,334 (GRCm39)	N3293K	probably benign	Het
Cdk20	T	A	13: 64,585,319 (GRCm39)	V201D	probably benign	Het
Cenpf	A	G	1: 189,385,356 (GRCm39)	V2308A	probably benign	Het
Chek1	T	C	9: 36,634,050 (GRCm39)		probably benign	Het
Ciz1	G	T	2: 32,264,356 (GRCm39)	E497D	probably damaging	Het
Clcn6	A	G	4: 148,102,067 (GRCm39)	F339S	probably damaging	Het
Dctpp1	G	A	7: 126,856,285 (GRCm39)	R146C	probably damaging	Het
Dennd5a	C	T	7: 109,534,688 (GRCm39)		probably null	Het
Dmxl1	G	A	18: 49,997,029 (GRCm39)	V442I	probably benign	Het
Dmxl2	C	A	9: 54,285,993 (GRCm39)		probably null	Het
Dnah11	A	G	12: 117,938,649 (GRCm39)	I3273T	probably benign	Het
Dnhd1	T	A	7: 105,364,045 (GRCm39)	D4132E	probably damaging	Het
Dst	G	A	1: 34,230,363 (GRCm39)	W2327*	probably null	Het
Epb41	A	T	4: 131,709,756 (GRCm39)		probably benign	Het
Frem2	C	T	3: 53,559,774 (GRCm39)	V1578I	probably benign	Het
Fsip2	A	G	2: 82,813,862 (GRCm39)	T3394A	probably benign	Het
Gabra5	C	T	7: 57,138,758 (GRCm39)	D97N	probably damaging	Het
Habp2	A	G	19: 56,308,054 (GRCm39)	E546G	probably benign	Het
Hace1	A	G	10: 45,464,470 (GRCm39)		probably benign	Het
Herc4	T	C	10: 63,123,323 (GRCm39)	S433P	probably benign	Het
Igf2bp2	T	C	16: 21,882,426 (GRCm39)	N425S	probably damaging	Het
Krt26	C	T	11: 99,226,128 (GRCm39)	G189S	probably damaging	Het
Lama2	A	T	10: 26,860,372 (GRCm39)	D3038E	probably damaging	Het
Lmbrd2	T	C	15: 9,151,672 (GRCm39)		probably benign	Het
Lrp1b	A	G	2: 40,692,996 (GRCm39)	F3401L	possibly damaging	Het
Map2k7	T	A	8: 4,297,663 (GRCm39)	S421R	possibly damaging	Het
Muc4	C	T	16: 32,575,647 (GRCm39)		probably benign	Het
Muc5b	G	A	7: 141,417,367 (GRCm39)	V3438M	probably benign	Het
Myo3a	A	G	2: 22,468,182 (GRCm39)	R479G	possibly damaging	Het
Mzf1	A	G	7: 12,777,883 (GRCm39)	V586A	possibly damaging	Het
Or7g12	T	C	9: 18,900,178 (GRCm39)	V298A	probably benign	Het
Or9g20	A	T	2: 85,629,820 (GRCm39)	Y265N	probably damaging	Het
Pcdhgb7	A	T	18: 37,885,416 (GRCm39)	E195D	probably benign	Het
Pde4b	A	G	4: 102,412,822 (GRCm39)	D199G	probably benign	Het
Rnf213	C	T	11: 119,336,555 (GRCm39)	Q3309*	probably null	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc22a4	C	G	11: 53,888,218 (GRCm39)	C270S	probably benign	Het
Smarca2	G	A	19: 26,661,327 (GRCm39)		probably null	Het
Spata31d1c	T	C	13: 65,183,213 (GRCm39)	S252P	probably damaging	Het
Tyr	A	G	7: 87,087,148 (GRCm39)	S455P	probably benign	Het
Urb1	A	T	16: 90,566,353 (GRCm39)	M1478K	probably damaging	Het
Usp1	A	G	4: 98,822,939 (GRCm39)	D751G	probably damaging	Het
Vmn1r214	G	A	13: 23,219,520 (GRCm39)	C338Y	probably benign	Het
Vmn2r103	A	G	17: 20,013,866 (GRCm39)	I219M	possibly damaging	Het
Wwp2	A	G	8: 108,212,253 (GRCm39)	N139S	probably benign	Het

Other mutations in Matn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Matn1	APN	4	130,680,285 (GRCm39)	missense	probably benign
IGL01084:Matn1	APN	4	130,679,245 (GRCm39)	missense	probably benign	0.13
IGL01123:Matn1	APN	4	130,677,322 (GRCm39)	missense	possibly damaging	0.72
IGL01941:Matn1	APN	4	130,679,572 (GRCm39)	splice site	probably benign
IGL02289:Matn1	APN	4	130,679,146 (GRCm39)	splice site	probably benign
IGL02297:Matn1	APN	4	130,679,575 (GRCm39)	splice site	probably benign
IGL02488:Matn1	APN	4	130,671,804 (GRCm39)	missense	probably benign	0.20
IGL03493:Matn1	APN	4	130,677,309 (GRCm39)	missense	probably benign	0.37
R0282:Matn1	UTSW	4	130,673,238 (GRCm39)	missense	probably damaging	0.98
R0373:Matn1	UTSW	4	130,677,417 (GRCm39)	missense	probably damaging	1.00
R0384:Matn1	UTSW	4	130,671,787 (GRCm39)	missense	probably benign	0.20
R1457:Matn1	UTSW	4	130,677,330 (GRCm39)	missense	possibly damaging	0.89
R3955:Matn1	UTSW	4	130,678,726 (GRCm39)	critical splice donor site	probably null
R4801:Matn1	UTSW	4	130,677,336 (GRCm39)	missense	possibly damaging	0.82
R4802:Matn1	UTSW	4	130,677,336 (GRCm39)	missense	possibly damaging	0.82
R4887:Matn1	UTSW	4	130,679,425 (GRCm39)	missense	probably benign	0.13
R4961:Matn1	UTSW	4	130,680,234 (GRCm39)	missense	probably damaging	1.00
R6062:Matn1	UTSW	4	130,679,277 (GRCm39)	missense	probably benign	0.03
R7868:Matn1	UTSW	4	130,682,311 (GRCm39)	missense	probably damaging	1.00
R8343:Matn1	UTSW	4	130,673,300 (GRCm39)	nonsense	probably null
R8530:Matn1	UTSW	4	130,677,447 (GRCm39)	nonsense	probably null
R8726:Matn1	UTSW	4	130,679,514 (GRCm39)	missense	probably damaging	1.00
R9430:Matn1	UTSW	4	130,673,278 (GRCm39)	missense	probably damaging	1.00
Z1176:Matn1	UTSW	4	130,673,416 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAAGCTAGAATTGAGCCCAGTG -3'
(R):5'- TGAGATACTTCAAGGCGGCG -3'

Sequencing Primer
(F):5'- TGGTTGAGTCCCCAGCCAATG -3'
(R):5'- ATGTAGGACATGTTCCGC -3'

Posted On

2015-04-29