Mutagenetix > Incidental Mutation

Incidental Mutation 'R4961:Matn1'

381750

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

042558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4961 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

130671696-130682786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130680234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 437 (Y437C)

Ref Sequence

ENSEMBL: ENSMUSP00000099636 (fasta)

Gene Model

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

AlphaFold

P51942

Predicted Effect

probably damaging
Transcript: ENSMUST00000102576
AA Change: Y437C

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

SMART Domains

Protein: ENSMUSP00000099636
Gene: ENSMUSG00000040533
AA Change: Y437C

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

0.5627

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.3%
20x: 88.3%

Validation Efficiency

95% (62/65)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	T	C	5: 139,349,855 (GRCm39)	K65E	probably damaging	Het
Acp5	C	A	9: 22,041,233 (GRCm39)	A65S	probably benign	Het
Adad2	G	A	8: 120,342,397 (GRCm39)	R345H	probably damaging	Het
Adamts7	G	T	9: 90,067,793 (GRCm39)	G428W	probably damaging	Het
Amy1	A	G	3: 113,355,498 (GRCm39)	S326P	probably damaging	Het
Ankrd44	C	T	1: 54,703,071 (GRCm39)	D482N	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano8	G	C	8: 71,935,640 (GRCm39)	P326R	probably damaging	Het
Arhgef26	A	G	3: 62,367,046 (GRCm39)	E793G	probably damaging	Het
Cd9	A	T	6: 125,440,703 (GRCm39)	V96E	probably damaging	Het
Cdh9	A	G	15: 16,850,914 (GRCm39)	N561S	probably benign	Het
Col16a1	G	A	4: 129,948,272 (GRCm39)		probably null	Het
Cpne7	G	A	8: 123,860,498 (GRCm39)	G484R	probably damaging	Het
Dcun1d4	A	T	5: 73,701,463 (GRCm39)	K194*	probably null	Het
Dock3	A	G	9: 106,818,515 (GRCm39)	V1193A	probably damaging	Het
Dst	A	G	1: 34,007,904 (GRCm39)	R113G	possibly damaging	Het
Epha5	A	T	5: 84,381,502 (GRCm39)	S450T	probably damaging	Het
Gm5581	A	T	6: 131,144,190 (GRCm39)		noncoding transcript	Het
Grhl3	A	G	4: 135,279,918 (GRCm39)	Y379H	probably damaging	Het
Herpud1	T	C	8: 95,117,454 (GRCm39)	S13P	probably benign	Het
Jam2	C	T	16: 84,606,435 (GRCm39)	Q150*	probably null	Het
Jph2	C	G	2: 163,217,668 (GRCm39)	R336P	probably damaging	Het
Kansl3	T	A	1: 36,387,764 (GRCm39)		probably null	Het
Kctd1	G	A	18: 15,195,580 (GRCm39)	P348S	probably damaging	Het
Klhl30	T	A	1: 91,285,106 (GRCm39)	S321T	possibly damaging	Het
Klhl5	T	C	5: 65,310,033 (GRCm39)		probably benign	Het
Letm2	T	C	8: 26,084,108 (GRCm39)	H41R	possibly damaging	Het
Ltn1	A	T	16: 87,194,679 (GRCm39)	C1407S	probably benign	Het
Map1b	T	C	13: 99,572,161 (GRCm39)	T187A	probably damaging	Het
Marveld2	T	C	13: 100,748,431 (GRCm39)	N216S	probably benign	Het
Oas1h	T	C	5: 121,009,159 (GRCm39)	Y290H	probably damaging	Het
Ofcc1	A	G	13: 40,417,035 (GRCm39)		probably null	Het
Or2m12	C	A	16: 19,104,726 (GRCm39)	G256W	probably damaging	Het
Or4k51	A	T	2: 111,584,750 (GRCm39)	D52V	probably damaging	Het
Or8g34	A	G	9: 39,373,183 (GRCm39)	Y152C	probably damaging	Het
Otof	C	A	5: 30,540,837 (GRCm39)		probably benign	Het
Pcdh15	G	T	10: 74,215,249 (GRCm39)		probably null	Het
Pgk2	G	A	17: 40,518,412 (GRCm39)	P339S	probably damaging	Het
Piezo2	T	C	18: 63,186,032 (GRCm39)		probably null	Het
Prex2	A	G	1: 11,168,705 (GRCm39)	T234A	possibly damaging	Het
Rasgrf1	C	T	9: 89,826,922 (GRCm39)	T177M	probably benign	Het
Rgs1	A	T	1: 144,124,309 (GRCm39)		probably null	Het
Snx25	T	C	8: 46,521,229 (GRCm39)	N239S	probably damaging	Het
Spata31d1a	T	A	13: 59,849,716 (GRCm39)	H804L	possibly damaging	Het
Spon2	A	T	5: 33,371,896 (GRCm39)	Y303*	probably null	Het
Spopfm2	A	T	3: 94,082,841 (GRCm39)	C323*	probably null	Het
Thrb	G	A	14: 18,011,076 (GRCm38)	D151N	probably benign	Het
Tns1	A	G	1: 73,975,074 (GRCm39)	V1170A	probably benign	Het
Trbv19	A	T	6: 41,155,706 (GRCm39)	I26F	probably damaging	Het
Tstd2	T	C	4: 46,120,467 (GRCm39)	N311S	probably damaging	Het
Ttn	T	A	2: 76,715,746 (GRCm39)		probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn1r185	G	A	7: 26,310,716 (GRCm39)	A263V	probably benign	Het
Zfp316	T	C	5: 143,239,169 (GRCm39)	H950R	probably damaging	Het
Zfp51	A	G	17: 21,676,615 (GRCm39)	K29E	probably benign	Het
Zfp644	T	C	5: 106,766,081 (GRCm39)		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
R4014:Matn1	UTSW	4	130,679,258 (GRCm39)	missense	possibly damaging	0.69
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
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'- AGGTTGACTGTATCTTTCGCAG -3'
(R):5'- ATGTCTCTGCTGGTAGTGCAC -3'

Sequencing Primer
(F):5'- CGCAGGTTGTCCATCTGG -3'
(R):5'- TAGTGCACCAGCCAGCC -3'

Posted On

2016-04-27