Mutagenetix > Incidental Mutation

Incidental Mutation 'R1387:Mmp13'

162433

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

039449-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R1387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7272514-7283331 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7282033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 445 (F445Y)

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

possibly damaging
Transcript: ENSMUST00000015394
AA Change: F445Y

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000015394
Gene: ENSMUSG00000050578
AA Change: F445Y

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

Meta Mutation Damage Score

0.2428

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.4%

Validation Efficiency

99% (82/83)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	T	A	9: 98,068,812 (GRCm39)		noncoding transcript	Het
4930447C04Rik	C	A	12: 72,962,208 (GRCm39)	R52L	probably benign	Het
Abca13	C	T	11: 9,632,085 (GRCm39)	Q5002*	probably null	Het
Acacb	T	C	5: 114,338,573 (GRCm39)	I761T	probably benign	Het
Acap3	G	T	4: 155,983,937 (GRCm39)	L134F	probably benign	Het
Adamtsl1	T	C	4: 86,293,230 (GRCm39)		probably benign	Het
Adgrv1	A	G	13: 81,641,295 (GRCm39)	V3278A	possibly damaging	Het
Agxt2	T	C	15: 10,380,696 (GRCm39)	Y196H	probably damaging	Het
Akap13	T	C	7: 75,235,941 (GRCm39)	V172A	probably damaging	Het
Aqp8	A	G	7: 123,065,891 (GRCm39)	I229V	probably benign	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Brd10	A	G	19: 29,700,853 (GRCm39)	I812T	probably benign	Het
Cacng8	T	C	7: 3,463,672 (GRCm39)	S275P	possibly damaging	Het
Catsperg1	T	C	7: 28,906,289 (GRCm39)	Y138C	probably damaging	Het
Ccdc93	T	G	1: 121,418,918 (GRCm39)	L491R	probably damaging	Het
Cntnap2	T	C	6: 47,084,848 (GRCm39)	V1103A	probably benign	Het
Col12a1	C	T	9: 79,588,657 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,750,138 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,182,414 (GRCm39)	A6T	probably damaging	Het
Cyp2j5	T	A	4: 96,522,522 (GRCm39)	S351C	probably damaging	Het
Cyth1	A	G	11: 118,073,172 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,223,309 (GRCm39)		probably benign	Het
Duoxa1	T	A	2: 122,134,468 (GRCm39)	I262F	possibly damaging	Het
Dync2h1	T	C	9: 7,125,816 (GRCm39)	D1930G	probably benign	Het
Eeig1	T	C	2: 32,455,635 (GRCm39)	S254P	possibly damaging	Het
Eno1	C	T	4: 150,332,590 (GRCm39)		probably benign	Het
Fam98a	T	A	17: 75,845,264 (GRCm39)	H494L	unknown	Het
Fcamr	C	A	1: 130,732,379 (GRCm39)	T122K	possibly damaging	Het
Foxq1	A	G	13: 31,743,288 (GRCm39)	D130G	probably damaging	Het
Glb1	T	A	9: 114,249,431 (GRCm39)	W5R	probably damaging	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gm5431	T	A	11: 48,785,842 (GRCm39)	R178W	possibly damaging	Het
Gys2	C	T	6: 142,407,009 (GRCm39)	V116M	probably benign	Het
Hif1a	C	T	12: 73,989,066 (GRCm39)	T651I	possibly damaging	Het
Itgb5	T	A	16: 33,720,885 (GRCm39)	Y3*	probably null	Het
Kank3	A	G	17: 34,035,205 (GRCm39)	N7S	possibly damaging	Het
Kdm2b	G	T	5: 123,018,331 (GRCm39)	H981Q	probably damaging	Het
Kdm6a	C	T	X: 18,120,235 (GRCm39)		probably benign	Het
Kif1a	A	T	1: 92,983,672 (GRCm39)		probably benign	Het
Knl1	T	A	2: 118,901,211 (GRCm39)	S971T	possibly damaging	Het
Lcn6	T	C	2: 25,567,149 (GRCm39)	V50A	possibly damaging	Het
Llgl2	G	T	11: 115,743,958 (GRCm39)	V762F	probably damaging	Het
Lpcat4	T	C	2: 112,075,021 (GRCm39)	F342L	probably benign	Het
Lrp2	C	A	2: 69,287,262 (GRCm39)	G3725V	probably damaging	Het
Map1b	T	C	13: 99,569,158 (GRCm39)	T1188A	unknown	Het
Mecp2	G	A	X: 73,079,394 (GRCm39)	P362S	possibly damaging	Het
Mideas	C	A	12: 84,199,705 (GRCm39)	R1005L	probably damaging	Het
Myo5b	G	T	18: 74,777,272 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,116,805 (GRCm39)		probably benign	Het
Nadk2	C	A	15: 9,106,870 (GRCm39)	L384I	possibly damaging	Het
Napg	A	G	18: 63,119,283 (GRCm39)	I98V	possibly damaging	Het
Ncoa1	G	T	12: 4,324,790 (GRCm39)	N1041K	probably benign	Het
Nmu	A	T	5: 76,497,992 (GRCm39)	C64*	probably null	Het
Nobox	T	A	6: 43,284,132 (GRCm39)	K13M	probably damaging	Het
Nos1	T	C	5: 118,091,848 (GRCm39)		probably benign	Het
Nrg2	A	G	18: 36,329,792 (GRCm39)	V141A	probably damaging	Het
Or1b1	T	G	2: 36,994,880 (GRCm39)	I261L	probably benign	Het
Or2aj5	T	C	16: 19,424,777 (GRCm39)	I214V	probably damaging	Het
Or55b4	T	A	7: 102,133,911 (GRCm39)	I139L	probably benign	Het
Phldb2	C	T	16: 45,646,357 (GRCm39)	E71K	possibly damaging	Het
Pik3r4	T	A	9: 105,521,490 (GRCm39)	Y19N	probably damaging	Het
Pkhd1	A	C	1: 20,625,447 (GRCm39)		probably benign	Het
Pogk	G	T	1: 166,227,707 (GRCm39)	P148Q	possibly damaging	Het
Pten	G	T	19: 32,775,496 (GRCm39)	A79S	probably benign	Het
Ptpdc1	A	T	13: 48,739,796 (GRCm39)	V545E	possibly damaging	Het
Qdpr	G	C	5: 45,607,480 (GRCm39)		probably benign	Het
Rhbdd3	T	A	11: 5,054,121 (GRCm39)	H83Q	probably damaging	Het
Rnf6	A	G	5: 146,148,055 (GRCm39)	V321A	probably benign	Het
Rtf1	T	A	2: 119,536,126 (GRCm39)		probably null	Het
Serpina10	C	T	12: 103,594,500 (GRCm39)	V240I	probably benign	Het
Siah2	A	G	3: 58,598,935 (GRCm39)	V101A	possibly damaging	Het
Taok3	A	G	5: 117,344,720 (GRCm39)	K46R	probably damaging	Het
Tcaf2	A	C	6: 42,601,512 (GRCm39)	L849R	probably damaging	Het
Upf3a	T	C	8: 13,842,118 (GRCm39)	F178S	probably damaging	Het
Vmn1r218	G	A	13: 23,321,478 (GRCm39)	G195D	probably damaging	Het
Vmn2r59	A	G	7: 41,695,521 (GRCm39)	V297A	probably damaging	Het
Vmn2r70	T	A	7: 85,207,969 (GRCm39)	Q836L	probably benign	Het
Zfp473	A	G	7: 44,382,365 (GRCm39)	V655A	probably benign	Het
Zic5	A	G	14: 122,696,897 (GRCm39)	S573P	unknown	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
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
R7728:Mmp13	UTSW	9	7,274,004 (GRCm39)	missense	probably benign
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'- GAGGTTCAACATCTGTTGTTCACACAC -3'
(R):5'- GCTCGTTCACAGAACTAAGCTCTCC -3'

Sequencing Primer
(F):5'- TGTTCACACACTTGGTAGTAGC -3'
(R):5'- AGAACTAAGCTCTCCCCTGATATCTC -3'

Posted On

2014-03-17