Mutagenetix > Incidental Mutation

Incidental Mutation 'R7728:Mmp13'

595639

Institutional Source

Beutler Lab

Gene Symbol

Mmp13

Ensembl Gene

ENSMUSG00000050578

Gene Name

matrix metallopeptidase 13

Synonyms

interstitial collagenase, Collagenase-3, collagenase-1, MMP-13, Mmp1, Clg

MMRRC Submission

045784-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R7728 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7272514-7283331 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7274004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 159 (D159E)

Ref Sequence

ENSEMBL: ENSMUSP00000015394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015394]

AlphaFold

P33435

PDB Structure

STRUCTURE OF RECOMBINANT MOUSE COLLAGENASE-3 (MMP-13) [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000015394
AA Change: D159E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015394
Gene: ENSMUSG00000050578
AA Change: D159E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:PG_binding_1	33	92	5.3e-13	PFAM
ZnMc	110	269	3.76e-59	SMART
HX	291	333	9.62e-8	SMART
HX	335	378	9.91e-10	SMART
HX	383	430	2.52e-11	SMART
HX	432	472	1.81e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: This gene encodes a member of the matrix metalloproteinase family that plays a role in wound healing, skeletal development and bone remodeling. The encoded protein is activated by the removal of an N-terminal activation peptide to generate a zinc-dependent endopeptidase enzyme that can cleave various native collagens, including types I - IV, X and XIV. Mice lacking the encoded protein display profound defects in growth plate cartilage as well as a delay in the endochondral bone development. Lack of the encoded protein also impairs the wound healing process due to reduced keratinocyte migration and vascular density at the wound site. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Jun 2015]
PHENOTYPE: Homozygous null mice display increased width of hypertrophic chondrocyte zone and increased trabecular bone. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,163,822 (GRCm39)	P851S	probably damaging	Het
2210408I21Rik	T	A	13: 77,464,596 (GRCm39)	L931Q	possibly damaging	Het
Abcg3	T	G	5: 105,083,944 (GRCm39)	I609L	probably benign	Het
Acly	A	T	11: 100,407,623 (GRCm39)	F242L	probably damaging	Het
Acly	C	T	11: 100,410,513 (GRCm39)	G155D	probably benign	Het
Acsl5	T	A	19: 55,276,285 (GRCm39)	L370*	probably null	Het
Arhgef17	G	A	7: 100,579,275 (GRCm39)	P558S	probably benign	Het
Bhlha9	T	A	11: 76,563,915 (GRCm39)	S181T	possibly damaging	Het
Birc6	A	G	17: 74,929,100 (GRCm39)	T2331A	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc7b	A	T	8: 129,799,171 (GRCm39)	R83W	unknown	Het
Churc1	T	A	12: 76,820,052 (GRCm39)	N20K	probably benign	Het
Clec9a	T	C	6: 129,392,198 (GRCm39)	S63P	possibly damaging	Het
Cndp2	T	A	18: 84,690,202 (GRCm39)	M247L	probably benign	Het
Cpvl	C	T	6: 53,902,275 (GRCm39)	S329N	probably benign	Het
Cracd	T	C	5: 77,005,316 (GRCm39)	V559A	unknown	Het
Csmd1	A	T	8: 16,281,285 (GRCm39)	W747R	probably damaging	Het
Dhx40	A	T	11: 86,662,759 (GRCm39)	D644E	probably damaging	Het
Disp2	A	T	2: 118,621,961 (GRCm39)	N898Y	probably benign	Het
Dnah3	G	A	7: 119,538,051 (GRCm39)	H666Y	probably damaging	Het
Dnajc2	C	T	5: 21,975,538 (GRCm39)	D222N	possibly damaging	Het
Epha5	A	T	5: 84,215,267 (GRCm39)	M826K	possibly damaging	Het
Fam13a	T	C	6: 58,931,284 (GRCm39)	D432G	possibly damaging	Het
Fkbp6	A	G	5: 135,368,398 (GRCm39)	L276P	probably damaging	Het
Gars1	G	T	6: 55,027,371 (GRCm39)	W155L	probably damaging	Het
Gm12258	C	A	11: 58,750,518 (GRCm39)	H564Q	unknown	Het
Gm3127	A	G	14: 15,425,832 (GRCm39)	D79G	possibly damaging	Het
H2-Q10	T	A	17: 35,781,735 (GRCm39)	I119N	probably damaging	Het
Harbi1	A	G	2: 91,542,626 (GRCm39)	D29G	possibly damaging	Het
Hp1bp3	T	A	4: 137,953,307 (GRCm39)	M155K	probably damaging	Het
Itpr3	T	G	17: 27,317,088 (GRCm39)	M781R	probably damaging	Het
Kat7	T	C	11: 95,190,907 (GRCm39)	K101E	probably benign	Het
Kif7	A	G	7: 79,360,478 (GRCm39)	I299T	possibly damaging	Het
Krt34	A	G	11: 99,930,811 (GRCm39)		probably null	Het
Krt81	A	G	15: 101,358,087 (GRCm39)	Y389H	probably damaging	Het
Lrrc36	A	T	8: 106,176,130 (GRCm39)	E168V	probably benign	Het
Lrrk1	A	G	7: 65,912,463 (GRCm39)	V1699A	probably benign	Het
Mdh1b	T	A	1: 63,754,429 (GRCm39)	S380C	probably benign	Het
Mlkl	A	G	8: 112,060,251 (GRCm39)	L45P	probably damaging	Het
Nanp	A	G	2: 150,872,835 (GRCm39)	V31A	possibly damaging	Het
Nbeal1	T	C	1: 60,283,983 (GRCm39)	S846P	probably damaging	Het
Neb	G	A	2: 52,073,311 (GRCm39)	R5982C	probably damaging	Het
Nebl	G	T	2: 17,375,325 (GRCm39)	F93L		Het
Or11h6	G	A	14: 50,879,849 (GRCm39)	G31E	probably benign	Het
Pcdhb11	A	T	18: 37,556,530 (GRCm39)	N620I	probably damaging	Het
Pcdhgb2	A	G	18: 37,824,260 (GRCm39)	Y417C	probably damaging	Het
Pwp2	T	C	10: 78,014,395 (GRCm39)	T402A	probably benign	Het
Ralgapb	T	C	2: 158,324,423 (GRCm39)		probably null	Het
Rexo4	G	A	2: 26,854,242 (GRCm39)	A30V	probably benign	Het
Rrs1	T	A	1: 9,616,623 (GRCm39)	M292K	possibly damaging	Het
Shroom3	C	A	5: 92,831,566 (GRCm39)	P14Q	possibly damaging	Het
Slc16a10	T	A	10: 39,916,754 (GRCm39)	I383F	probably damaging	Het
Slco1a8	C	A	6: 141,933,436 (GRCm39)	E470*	probably null	Het
Slk	C	A	19: 47,609,255 (GRCm39)	P736Q	probably damaging	Het
St6galnac2	T	A	11: 116,570,811 (GRCm39)	H259L	probably benign	Het
Stambpl1	T	G	19: 34,213,721 (GRCm39)	S317A	possibly damaging	Het
Syvn1	A	G	19: 6,101,235 (GRCm39)	T429A	unknown	Het
Tbc1d9	A	T	8: 83,985,979 (GRCm39)	E828V	probably damaging	Het
Tmtc2	A	C	10: 105,107,358 (GRCm39)		probably null	Het
Trmt11	A	G	10: 30,463,497 (GRCm39)	I206T	possibly damaging	Het
Trp53bp1	A	C	2: 121,038,380 (GRCm39)	L1436R	probably damaging	Het
Ttll5	C	T	12: 86,003,406 (GRCm39)	R1095W	probably benign	Het
Utp20	A	G	10: 88,634,203 (GRCm39)	F831S	probably damaging	Het
Vmn2r109	T	A	17: 20,773,117 (GRCm39)	Q501H	probably damaging	Het
Zcchc17	A	G	4: 130,230,812 (GRCm39)		probably null	Het
Zfhx3	A	G	8: 109,678,201 (GRCm39)	M3084V	probably benign	Het
Zfp81	T	C	17: 33,555,791 (GRCm39)	N12S	possibly damaging	Het

Other mutations in Mmp13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01976:Mmp13	APN	9	7,278,974 (GRCm39)	splice site	probably benign
IGL02027:Mmp13	APN	9	7,272,955 (GRCm39)	missense	probably damaging	1.00
IGL02320:Mmp13	APN	9	7,278,941 (GRCm39)	missense	probably benign	0.00
R0143:Mmp13	UTSW	9	7,276,558 (GRCm39)	missense	probably damaging	1.00
R0417:Mmp13	UTSW	9	7,276,602 (GRCm39)	missense	probably benign
R0505:Mmp13	UTSW	9	7,272,929 (GRCm39)	missense	probably damaging	1.00
R0624:Mmp13	UTSW	9	7,280,221 (GRCm39)	missense	possibly damaging	0.69
R0632:Mmp13	UTSW	9	7,282,077 (GRCm39)	missense	possibly damaging	0.74
R0632:Mmp13	UTSW	9	7,274,032 (GRCm39)	missense	probably damaging	1.00
R1102:Mmp13	UTSW	9	7,272,952 (GRCm39)	missense	possibly damaging	0.55
R1387:Mmp13	UTSW	9	7,282,033 (GRCm39)	missense	possibly damaging	0.60
R1478:Mmp13	UTSW	9	7,272,892 (GRCm39)	missense	probably damaging	1.00
R1669:Mmp13	UTSW	9	7,277,926 (GRCm39)	missense	probably benign	0.01
R4647:Mmp13	UTSW	9	7,274,233 (GRCm39)	missense	probably damaging	1.00
R4648:Mmp13	UTSW	9	7,274,233 (GRCm39)	missense	probably damaging	1.00
R4668:Mmp13	UTSW	9	7,272,580 (GRCm39)	missense	possibly damaging	0.54
R4827:Mmp13	UTSW	9	7,278,880 (GRCm39)	missense	possibly damaging	0.68
R4898:Mmp13	UTSW	9	7,272,953 (GRCm39)	missense	probably benign	0.10
R5780:Mmp13	UTSW	9	7,278,952 (GRCm39)	missense	possibly damaging	0.76
R5946:Mmp13	UTSW	9	7,276,580 (GRCm39)	missense	probably damaging	1.00
R5996:Mmp13	UTSW	9	7,274,269 (GRCm39)	missense	probably damaging	1.00
R6102:Mmp13	UTSW	9	7,276,688 (GRCm39)	missense	probably benign	0.07
R6693:Mmp13	UTSW	9	7,280,245 (GRCm39)	missense	probably benign	0.00
R6789:Mmp13	UTSW	9	7,272,781 (GRCm39)	missense	probably benign	0.00
R7310:Mmp13	UTSW	9	7,280,880 (GRCm39)	missense	possibly damaging	0.60
R8041:Mmp13	UTSW	9	7,280,865 (GRCm39)	missense	probably benign	0.13
R8314:Mmp13	UTSW	9	7,272,931 (GRCm39)	missense	probably damaging	1.00
R8324:Mmp13	UTSW	9	7,276,636 (GRCm39)	missense	possibly damaging	0.75
R8684:Mmp13	UTSW	9	7,282,089 (GRCm39)	missense	possibly damaging	0.51
R8755:Mmp13	UTSW	9	7,277,996 (GRCm39)	missense	possibly damaging	0.51
R9365:Mmp13	UTSW	9	7,277,921 (GRCm39)	missense	probably benign	0.02
T0722:Mmp13	UTSW	9	7,280,857 (GRCm39)	missense	possibly damaging	0.67
Z1177:Mmp13	UTSW	9	7,280,200 (GRCm39)	missense	possibly damaging	0.89
Z1177:Mmp13	UTSW	9	7,277,953 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCAGATTTTAGCTGCCAAC -3'
(R):5'- AGACAGCAAGAGTTAGAGTCCC -3'

Sequencing Primer
(F):5'- GCCCTATGAATGATTGTGAGCCAC -3'
(R):5'- GAGTCCCATTATATATACTGTGCCTG -3'

Posted On

2019-11-12