Mutagenetix > Incidental Mutation

Incidental Mutation 'R6062:Matn1'

483833

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

044227-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6062 (G1)

Quality Score

183.009

Status

Validated

Chromosome

Chromosomal Location

130671696-130682786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130679277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 310 (D310E)

Ref Sequence

ENSEMBL: ENSMUSP00000099636 (fasta)

Gene Model

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

AlphaFold

P51942

Predicted Effect

probably benign
Transcript: ENSMUST00000102576
AA Change: D310E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099636
Gene: ENSMUSG00000040533
AA Change: D310E

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atat1	T	A	17: 36,219,456 (GRCm39)	Q136L	probably damaging	Het
Atm	A	G	9: 53,399,887 (GRCm39)	L1531P	probably damaging	Het
Brca2	G	A	5: 150,480,354 (GRCm39)	R2708H	probably damaging	Het
Cand1	G	A	10: 119,053,915 (GRCm39)	A141V	possibly damaging	Het
Cdcp2	T	C	4: 106,959,689 (GRCm39)	S35P	probably damaging	Het
Ces4a	G	A	8: 105,864,806 (GRCm39)		probably null	Het
Colec10	T	A	15: 54,323,203 (GRCm39)	M142K	possibly damaging	Het
Crtc1	G	T	8: 70,858,839 (GRCm39)	D90E	probably damaging	Het
Csmd1	T	C	8: 16,142,319 (GRCm39)	E1528G	possibly damaging	Het
Csnk2a2	A	G	8: 96,184,097 (GRCm39)	V154A	possibly damaging	Het
Daglb	T	C	5: 143,480,358 (GRCm39)	I454T	probably benign	Het
Dtna	C	A	18: 23,755,113 (GRCm39)	N478K	possibly damaging	Het
E330034G19Rik	A	T	14: 24,343,448 (GRCm39)		probably benign	Het
Ecpas	G	T	4: 58,826,453 (GRCm39)	S1038Y	possibly damaging	Het
Eefsec	A	T	6: 88,332,611 (GRCm39)	S200T	probably benign	Het
Enthd1	T	A	15: 80,336,916 (GRCm39)	D506V	probably damaging	Het
Erbb2	A	G	11: 98,324,075 (GRCm39)	Y736C	probably damaging	Het
Gabrg1	A	G	5: 70,938,056 (GRCm39)	C183R	probably damaging	Het
Ginm1	T	A	10: 7,651,097 (GRCm39)	H103L	probably benign	Het
Golgb1	C	A	16: 36,735,033 (GRCm39)	Q1427K	possibly damaging	Het
Grb14	G	T	2: 64,852,964 (GRCm39)	Q9K	possibly damaging	Het
Hbp1	A	T	12: 31,987,246 (GRCm39)	M192K	probably damaging	Het
Herpud2	A	T	9: 25,020,284 (GRCm39)	D357E	probably damaging	Het
Idi1	A	G	13: 8,937,541 (GRCm39)	S111G	probably damaging	Het
Lrrc32	T	C	7: 98,147,748 (GRCm39)	V176A	probably benign	Het
Mbtps1	A	T	8: 120,257,830 (GRCm39)	L469Q	possibly damaging	Het
Muc4	A	G	16: 32,579,682 (GRCm39)	D2417G	unknown	Het
Myo7b	T	C	18: 32,101,043 (GRCm39)	T1551A	possibly damaging	Het
Neb	A	G	2: 52,075,293 (GRCm39)	M224T	probably benign	Het
Ola1	A	T	2: 73,029,842 (GRCm39)	D92E	probably damaging	Het
Or1e28-ps1	A	C	11: 73,615,386 (GRCm39)	C155G	unknown	Het
Or4l1	A	T	14: 50,166,119 (GRCm39)	M294K	probably damaging	Het
Or5ar1	T	G	2: 85,671,458 (GRCm39)	I226L	probably benign	Het
Or8b48	T	A	9: 38,450,440 (GRCm39)	M83K	probably damaging	Het
Otud4	T	C	8: 80,400,525 (GRCm39)	Y1080H	probably damaging	Het
Plce1	G	A	19: 38,513,195 (GRCm39)	A165T	probably benign	Het
Prelid2	T	C	18: 42,045,530 (GRCm39)	I127V	probably benign	Het
Rab35	A	G	5: 115,778,147 (GRCm39)	I38V	probably damaging	Het
Rab3d	T	C	9: 21,821,815 (GRCm39)	T209A	probably benign	Het
Rapgef1	A	G	2: 29,590,744 (GRCm39)	E321G	probably damaging	Het
Rem1	T	C	2: 152,470,017 (GRCm39)	M1T	probably null	Het
Rgsl1	T	C	1: 153,675,618 (GRCm39)	K181R	possibly damaging	Het
Scel	C	A	14: 103,822,572 (GRCm39)	N395K	possibly damaging	Het
Septin9	A	G	11: 117,181,626 (GRCm39)	E142G	possibly damaging	Het
Shcbp1	A	C	8: 4,814,905 (GRCm39)	M191R	probably benign	Het
Slc22a19	T	C	19: 7,651,647 (GRCm39)	N520S	probably damaging	Het
Slc28a1	C	T	7: 80,765,311 (GRCm39)	R9*	probably null	Het
Slc2a7	T	C	4: 150,252,884 (GRCm39)	V508A	probably benign	Het
Slc8a3	G	A	12: 81,361,124 (GRCm39)	P565L	probably damaging	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Tenm3	T	G	8: 48,796,441 (GRCm39)	I455L	possibly damaging	Het
Tmem267	T	C	13: 120,070,767 (GRCm39)	S141P	probably damaging	Het
Tnn	T	A	1: 159,925,848 (GRCm39)	D1383V	probably damaging	Het
Usp9y	G	T	Y: 1,454,199 (GRCm39)	Q23K	probably benign	Het
Vmn1r46	T	C	6: 89,953,241 (GRCm39)	I30T	possibly damaging	Het
Zfp382	T	C	7: 29,833,015 (GRCm39)	L222P	probably damaging	Het
Zfp950	T	A	19: 61,108,863 (GRCm39)	K73N	possibly 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
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
R4961:Matn1	UTSW	4	130,680,234 (GRCm39)	missense	probably damaging	1.00
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'- AAGCTAGAATTGAGCCCAGTG -3'
(R):5'- ATGAGATACTTCAAGGCGGC -3'

Sequencing Primer
(F):5'- TGGCCACTGATGACCATAGTC -3'
(R):5'- CATGTAGGACATGTTCCG -3'

Posted On

2017-07-14