Mutagenetix > Incidental Mutation

Incidental Mutation 'R1457:Matn1'

158555

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

039512-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1457 (G1)

Quality Score

115

Status

Not validated

Chromosome

Chromosomal Location

130671696-130682786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130677330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 180 (F180I)

Ref Sequence

ENSEMBL: ENSMUSP00000099636 (fasta)

Gene Model

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

AlphaFold

P51942

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102576
AA Change: F180I

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099636
Gene: ENSMUSG00000040533
AA Change: F180I

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

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.3%

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 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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,888,683 (GRCm39)	I1210F	probably benign	Het
Ankrd17	T	C	5: 90,433,705 (GRCm39)	H688R	possibly damaging	Het
Arhgap24	T	A	5: 102,811,972 (GRCm39)	N66K	probably damaging	Het
Atp1a1	C	T	3: 101,497,782 (GRCm39)	G335D	probably damaging	Het
Cacna1g	C	T	11: 94,350,381 (GRCm39)	R488H	possibly damaging	Het
Cacna1h	A	T	17: 25,616,594 (GRCm39)	V149E	probably damaging	Het
Cd22	G	T	7: 30,572,595 (GRCm39)	P338Q	probably benign	Het
Cntln	G	T	4: 85,015,076 (GRCm39)	M1122I	probably benign	Het
Cntrl	A	G	2: 35,012,768 (GRCm39)	N302S	probably benign	Het
Cog8	T	C	8: 107,779,528 (GRCm39)	R250G	probably damaging	Het
Cracdl	A	T	1: 37,665,093 (GRCm39)	Y268*	probably null	Het
Creld2	T	C	15: 88,707,956 (GRCm39)	C232R	probably damaging	Het
Cyp2b23	G	A	7: 26,372,574 (GRCm39)	P347L	probably damaging	Het
Dnah5	T	C	15: 28,403,688 (GRCm39)		probably null	Het
Eml6	C	T	11: 29,974,459 (GRCm39)	V40I	probably damaging	Het
Epb42	C	T	2: 120,860,448 (GRCm39)		probably null	Het
Fcrla	A	G	1: 170,748,573 (GRCm39)	L190P	probably damaging	Het
Galnt18	A	T	7: 111,378,635 (GRCm39)	Y40*	probably null	Het
Gdf7	A	T	12: 8,348,073 (GRCm39)	M416K	probably damaging	Het
Gm11232	T	A	4: 71,675,156 (GRCm39)		probably null	Het
Gpam	T	A	19: 55,076,608 (GRCm39)	N198Y	probably damaging	Het
Grip1	C	T	10: 119,822,255 (GRCm39)	S327F	possibly damaging	Het
Hey2	C	T	10: 30,710,352 (GRCm39)	A134T	probably benign	Het
Kat6a	T	C	8: 23,428,668 (GRCm39)	I1341T	probably benign	Het
Kcnd3	T	C	3: 105,575,502 (GRCm39)	L542P	probably benign	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lman2	T	C	13: 55,499,064 (GRCm39)	D234G	probably benign	Het
Map3k19	A	C	1: 127,745,635 (GRCm39)	I1273R	probably damaging	Het
Meikin	T	A	11: 54,261,767 (GRCm39)	L61*	probably null	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Myh13	T	C	11: 67,221,872 (GRCm39)	I199T	probably damaging	Het
Myh4	T	A	11: 67,139,287 (GRCm39)	S535T	probably damaging	Het
Myo5a	T	C	9: 75,120,347 (GRCm39)	M1715T	probably damaging	Het
Nat8	A	T	6: 85,807,971 (GRCm39)	V54D	probably damaging	Het
Nbea	A	G	3: 55,992,748 (GRCm39)	V286A	probably damaging	Het
Ndnf	A	G	6: 65,680,998 (GRCm39)	K426E	possibly damaging	Het
Nup210l	T	A	3: 90,098,279 (GRCm39)	N1410K	possibly damaging	Het
Oca2	A	T	7: 55,971,269 (GRCm39)	T399S	probably damaging	Het
Or10al2	A	T	17: 37,983,816 (GRCm39)	K301*	probably null	Het
Or1af1	A	C	2: 37,109,671 (GRCm39)	T57P	possibly damaging	Het
Or51a43	A	T	7: 103,717,666 (GRCm39)	C191S	probably damaging	Het
Or52h7	T	A	7: 104,214,278 (GRCm39)	N283K	probably damaging	Het
Or8c10	G	A	9: 38,279,492 (GRCm39)	V217I	probably benign	Het
Or8j3	A	G	2: 86,028,596 (GRCm39)	S167P	probably damaging	Het
Otogl	A	C	10: 107,714,013 (GRCm39)		probably null	Het
Pde4b	C	T	4: 102,462,373 (GRCm39)	T511I	probably damaging	Het
Proser3	A	G	7: 30,239,172 (GRCm39)		probably null	Het
Psmd12	G	A	11: 107,370,472 (GRCm39)	V24M	probably damaging	Het
Rbm17	A	T	2: 11,598,272 (GRCm39)	M170K	probably benign	Het
Rims2	C	T	15: 39,374,710 (GRCm39)	T1064I	possibly damaging	Het
Ripor3	C	T	2: 167,834,573 (GRCm39)	V281M	probably damaging	Het
Rreb1	C	A	13: 38,130,904 (GRCm39)	Q1353K	possibly damaging	Het
Sgo2a	A	G	1: 58,054,965 (GRCm39)	D383G	probably benign	Het
Sik3	C	T	9: 46,132,446 (GRCm39)	T1346M	probably damaging	Het
Slx1b	A	T	7: 126,291,968 (GRCm39)	V63E	probably damaging	Het
Son	A	G	16: 91,453,974 (GRCm39)	D907G	probably damaging	Het
Src	G	A	2: 157,311,132 (GRCm39)	V401M	probably damaging	Het
St3gal4	T	C	9: 34,966,053 (GRCm39)	K24E	possibly damaging	Het
Stat6	A	G	10: 127,494,114 (GRCm39)	K647R	probably damaging	Het
Tbl1xr1	G	A	3: 22,247,333 (GRCm39)		probably null	Het
Tlk2	G	A	11: 105,147,778 (GRCm39)		probably null	Het
Tmbim6	T	A	15: 99,299,496 (GRCm39)	I3K	probably benign	Het
Tmeff2	A	T	1: 51,221,026 (GRCm39)	I334F	probably damaging	Het
Ttn	T	C	2: 76,670,659 (GRCm39)		probably null	Het
Ubl7	T	A	9: 57,821,894 (GRCm39)	I81N	probably damaging	Het
Ugt1a10	A	G	1: 87,983,433 (GRCm39)	Y77C	probably damaging	Het
Uqcrfs1	A	G	13: 30,724,890 (GRCm39)	C217R	probably damaging	Het
Usp50	T	C	2: 126,603,554 (GRCm39)	T331A	probably benign	Het
Vmn1r65	A	G	7: 6,012,156 (GRCm39)	V26A	probably benign	Het
Wdfy3	A	C	5: 102,065,445 (GRCm39)	V1241G	possibly damaging	Het
Wtap	A	C	17: 13,200,631 (GRCm39)		probably null	Het
Zbtb40	C	A	4: 136,712,148 (GRCm39)	A1187S	possibly damaging	Het
Zfp57	T	C	17: 37,316,990 (GRCm39)	S20P	probably damaging	Het
Zfp592	A	G	7: 80,674,227 (GRCm39)	D397G	probably damaging	Het
Zfp747	A	T	7: 126,973,676 (GRCm39)	S165T	probably benign	Het
Zfp949	C	T	9: 88,451,891 (GRCm39)	T487I	probably damaging	Het
Zscan4d	A	G	7: 10,898,921 (GRCm39)	C119R	probably damaging	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
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
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'- TGTCAGAAGAAGCCGATAGTCTCCC -3'
(R):5'- CCAACTAGGCTCTGAGATTGGTGC -3'

Sequencing Primer
(F):5'- gtgtgtgtgtgtgtTCTGGC -3'
(R):5'- TTCTCAGAATTAGTCAAGCCCAGG -3'

Posted On

2014-03-14