Mutagenetix > Incidental Mutation

Incidental Mutation 'R7065:Matn3'

548532

Institutional Source

Beutler Lab

Gene Symbol

Matn3

Ensembl Gene

ENSMUSG00000020583

Gene Name

matrilin 3

Synonyms

MMRRC Submission

045161-MU

Accession Numbers

Essential gene?

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

Stock #

R7065 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8997929-9022028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9002472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 228 (M228K)

Ref Sequence

ENSEMBL: ENSMUSP00000020899 (fasta)

Gene Model

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

AlphaFold

O35701

Predicted Effect

probably damaging
Transcript: ENSMUST00000020899
AA Change: M228K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020899
Gene: ENSMUSG00000020583
AA Change: M228K

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

Meta Mutation Damage Score

0.8998

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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
Abca1	G	T	4: 53,074,233 (GRCm39)	S1150Y	probably damaging	Het
Abca13	T	A	11: 9,242,595 (GRCm39)	V1486E	probably benign	Het
Abca17	T	A	17: 24,546,725 (GRCm39)	Y292F	probably damaging	Het
Adam3	A	G	8: 25,201,691 (GRCm39)		probably null	Het
Ankmy2	G	A	12: 36,237,707 (GRCm39)	E269K	probably damaging	Het
Cdan1	A	G	2: 120,549,402 (GRCm39)	S1201P	probably benign	Het
Cep57	T	C	9: 13,729,677 (GRCm39)	Y122C	probably damaging	Het
Cfh	T	A	1: 140,014,140 (GRCm39)	Y1210F	probably damaging	Het
Cflar	T	G	1: 58,770,368 (GRCm39)	L154V	probably damaging	Het
Chmp4b	A	G	2: 154,533,162 (GRCm39)	D134G	probably damaging	Het
Clec14a	A	G	12: 58,315,580 (GRCm39)	F14S	possibly damaging	Het
Ctnna1	A	T	18: 35,285,669 (GRCm39)	H5L	probably benign	Het
Cyp2e1	T	A	7: 140,343,906 (GRCm39)	L48Q	probably damaging	Het
Dnah6	T	G	6: 73,064,545 (GRCm39)	Q2627P	possibly damaging	Het
Ehmt1	T	C	2: 24,730,709 (GRCm39)	D569G	probably damaging	Het
Frmd4a	G	A	2: 4,570,923 (GRCm39)			Het
Fryl	T	C	5: 73,248,099 (GRCm39)	D1006G	probably damaging	Het
Gclm	A	G	3: 122,056,320 (GRCm39)	N137D	probably benign	Het
Gk5	A	G	9: 96,061,109 (GRCm39)	Y531C	probably damaging	Het
Gpm6a	C	A	8: 55,490,493 (GRCm39)	N56K	probably benign	Het
Grik4	A	C	9: 42,455,127 (GRCm39)	V656G	probably damaging	Het
Grip2	C	A	6: 91,760,550 (GRCm39)		probably null	Het
Gucy2c	T	C	6: 136,697,764 (GRCm39)	K636E	probably damaging	Het
Ifi44l	A	G	3: 151,465,429 (GRCm39)	I107T		Het
Kif1b	T	C	4: 149,286,982 (GRCm39)	T1237A	possibly damaging	Het
Klk1b11	A	G	7: 43,648,386 (GRCm39)	D131G	probably benign	Het
Lipe	A	G	7: 25,084,603 (GRCm39)		probably null	Het
Lrp4	A	G	2: 91,341,925 (GRCm39)	D1846G	probably damaging	Het
Madd	A	T	2: 90,985,402 (GRCm39)	M1273K	probably benign	Het
Mterf4	T	A	1: 93,232,617 (GRCm39)	H78L	probably benign	Het
Ncoa4	T	A	14: 31,894,857 (GRCm39)	L128*	probably null	Het
Nedd4l	A	G	18: 65,329,040 (GRCm39)	N627S	probably benign	Het
Niban1	A	G	1: 151,575,858 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,919,189 (GRCm39)	Y1279C	probably damaging	Het
Nrp1	C	A	8: 129,187,193 (GRCm39)	T413N	probably benign	Het
Opn4	C	A	14: 34,317,834 (GRCm39)	A267S	probably benign	Het
Or4c11c	A	T	2: 88,661,730 (GRCm39)	I90F	probably damaging	Het
Or5ak24	A	G	2: 85,260,523 (GRCm39)	Y217H	probably damaging	Het
Or5al6	A	C	2: 85,976,345 (GRCm39)	H244Q	probably damaging	Het
Or5p78	G	A	7: 108,212,266 (GRCm39)	V251I	probably damaging	Het
Pax3	T	C	1: 78,170,648 (GRCm39)		probably null	Het
Pcdha12	A	G	18: 37,154,679 (GRCm39)	E466G	probably damaging	Het
Pdzk1	A	G	3: 96,775,748 (GRCm39)	E372G	probably benign	Het
Pigs	T	A	11: 78,227,565 (GRCm39)	V243D	possibly damaging	Het
Pla2g5	C	A	4: 138,527,915 (GRCm39)	C117F	probably damaging	Het
Ppt2	A	G	17: 34,841,829 (GRCm39)	S236P	probably damaging	Het
Raver1	T	C	9: 21,001,590 (GRCm39)	D81G	probably benign	Het
Rpgrip1	T	C	14: 52,378,650 (GRCm39)	L525P	possibly damaging	Het
Ryr1	T	C	7: 28,803,068 (GRCm39)	E662G	probably damaging	Het
Scaf8	G	A	17: 3,209,486 (GRCm39)	V66M	probably damaging	Het
Scn3a	A	C	2: 65,295,199 (GRCm39)	L1508R	probably benign	Het
Semp2l2b	T	C	10: 21,943,197 (GRCm39)	D261G	probably benign	Het
Slfn8	T	C	11: 82,907,794 (GRCm39)	R250G	probably benign	Het
Speer4d	A	C	5: 15,825,421 (GRCm39)	T49P	probably damaging	Het
Spice1	T	A	16: 44,175,898 (GRCm39)	D32E	probably damaging	Het
Stt3b	A	G	9: 115,095,224 (GRCm39)	L269P	probably damaging	Het
Ttn	A	G	2: 76,628,456 (GRCm39)	I14568T	possibly damaging	Het
U2surp	T	C	9: 95,367,712 (GRCm39)	T413A	probably benign	Het
Ubr3	A	G	2: 69,784,049 (GRCm39)	E755G	probably damaging	Het
Unc5a	A	T	13: 55,138,896 (GRCm39)	S92C	probably damaging	Het
Zfat	T	C	15: 68,052,969 (GRCm39)	Y275C	probably damaging	Het
Zfp874a	A	T	13: 67,590,401 (GRCm39)	S428T	probably damaging	Het
Zfy1	A	G	Y: 725,428 (GRCm39)	V779A	probably benign	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
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
RF001:Matn3	UTSW	12	9,008,797 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCAACAGGCACCATGTCAG -3'
(R):5'- AACATCCTCGCTAGCTAGAAGC -3'

Sequencing Primer
(F):5'- ATGTCAGGGCTAGCTATCCAGAC -3'
(R):5'- TATCCTCGCTAGCTGGAA -3'

Posted On

2019-05-13