Mutagenetix > Incidental Mutations

Incidental Mutation 'R7310:Mmp13'

567510

Institutional Source

Beutler Lab

Gene Symbol

Mmp13

Ensembl Gene

ENSMUSG00000050578

Gene Name

matrix metallopeptidase 13

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R7310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7272514-7283331 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7280880 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 421 (I421T)

Ref Sequence

ENSEMBL: ENSMUSP00000015394 (fasta)

Gene Model

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

PDB Structure

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015394
AA Change: I421T

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000015394
Gene: ENSMUSG00000050578
AA Change: I421T

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: 98.8%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,880,268	Q192L	possibly damaging	Het
3110002H16Rik	A	G	18: 12,184,915	K362E	probably benign	Het
Abat	G	A	16: 8,605,593	R250Q	probably null	Het
Abcg3	A	C	5: 104,966,766	F295C	probably benign	Het
Abl1	T	C	2: 31,800,592	S708P	possibly damaging	Het
Acap2	A	T	16: 31,108,154	Y489*	probably null	Het
Akr1c6	A	T	13: 4,436,355	M54L	probably benign	Het
Arhgap5	A	T	12: 52,542,487		probably null	Het
Asap1	A	G	15: 64,099,530		probably null	Het
Atrnl1	A	T	19: 57,642,424	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,888,139		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,888,148		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,888,173		probably benign	Het
BC049762	A	C	11: 51,254,647	W38G	probably damaging	Het
Bmi1	T	C	2: 18,684,419	S305P	probably benign	Het
Bpifc	T	A	10: 85,963,027	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,415,238	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,314,916	D428V	probably damaging	Het
Card14	A	C	11: 119,326,179	Q363P	probably null	Het
Cdca2	A	T	14: 67,713,224	L86H	probably damaging	Het
Cdh22	G	T	2: 165,112,294	S769*	probably null	Het
Cep164	T	C	9: 45,775,366	E690G	probably damaging	Het
Cluh	A	G	11: 74,669,459	H1304R	probably benign	Het
Daxx	C	A	17: 33,910,461	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,596,967	M1117V	possibly damaging	Het
Dusp27	G	A	1: 166,098,731	T1104I	possibly damaging	Het
Entpd3	T	A	9: 120,560,755		probably null	Het
Esr1	G	A	10: 4,939,259	A386T	probably damaging	Het
Etv5	G	A	16: 22,401,737	P300L	probably benign	Het
Exoc3l	A	T	8: 105,293,708	L195Q	probably damaging	Het
Exog	T	C	9: 119,445,003	L18P	unknown	Het
Fgfr1	T	A	8: 25,562,315	V219D	probably benign	Het
Gm28710	A	G	5: 16,870,248	Y872C	possibly damaging	Het
Gna14	A	T	19: 16,533,749	Q54L		Het
Gnb5	T	C	9: 75,314,288	L48P	probably benign	Het
Gpbp1	A	G	13: 111,453,390	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,241,457	D48E	probably damaging	Het
Hrc	T	A	7: 45,335,803	L126*	probably null	Het
Hspa8	T	G	9: 40,803,408	D333E	probably benign	Het
Igsf3	T	A	3: 101,431,579	V403D	probably benign	Het
Itga10	C	A	3: 96,648,159	A143D	probably damaging	Het
Kdr	T	A	5: 75,944,325	I1082F	probably damaging	Het
Klk11	A	T	7: 43,778,830	I242F	probably damaging	Het
Kng2	G	A	16: 22,987,772	T559I	probably benign	Het
Map1b	G	A	13: 99,433,655	P853S	unknown	Het
Mpeg1	A	T	19: 12,462,251	T358S	probably damaging	Het
Mttp	T	C	3: 138,095,022	D759G	probably damaging	Het
Mup17	T	A	4: 61,593,692	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,705,828	A79S	probably damaging	Het
Myo9a	T	A	9: 59,871,153	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,381		probably null	Het
Ncf1	A	T	5: 134,221,761	S402T	probably benign	Het
Ndufb10	T	C	17: 24,722,214	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,830,583	T163M	possibly damaging	Het
Nol4	A	T	18: 22,770,744	H172Q		Het
Nup205	T	A	6: 35,225,969	D1370E	possibly damaging	Het
Olfr1447	A	G	19: 12,901,273	F169S	probably damaging	Het
Olfr392	A	C	11: 73,814,286	N265K	probably damaging	Het
Olfr613	T	A	7: 103,552,685	I300N	probably damaging	Het
Pkd1l2	A	G	8: 117,024,034	V1746A	probably benign	Het
Plin2	T	A	4: 86,668,391	I68F	probably benign	Het
Proc	A	T	18: 32,135,899	M11K	probably benign	Het
Rif1	T	C	2: 52,105,619	V950A	probably benign	Het
Rnf208	C	A	2: 25,243,575	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,521,011	Y269*	probably null	Het
Senp7	T	C	16: 56,186,082	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,372,495	V649A	probably damaging	Het
Sipa1l3	G	T	7: 29,399,696	H383N	probably benign	Het
Slc12a5	G	A	2: 164,992,440	V794M	probably damaging	Het
Slc7a7	A	G	14: 54,379,025	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,202,348	I199L	probably damaging	Het
Tle4	A	T	19: 14,517,791	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,031,651	S271*	probably null	Het
Tnks2	G	A	19: 36,879,439	V855I	probably benign	Het
Trank1	T	C	9: 111,367,126	L1406S	probably damaging	Het
Trhde	T	C	10: 114,800,573	E243G	probably damaging	Het
Trim25	A	T	11: 89,015,782	N448I	probably benign	Het
Trim31	T	A	17: 36,907,302	M308K	probably benign	Het
Ugt2b36	A	T	5: 87,066,279	V502E	possibly damaging	Het
Usp10	A	C	8: 119,941,605	D215A	possibly damaging	Het
Usp33	T	G	3: 152,360,389	L102*	probably null	Het
Wdr12	A	T	1: 60,082,575	C272*	probably null	Het
Xndc1	A	C	7: 102,078,731		probably null	Het
Zkscan2	T	C	7: 123,490,053	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,984,688	T822S	probably benign	Het

Other mutations in Mmp13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01976:Mmp13	APN	9	7278974	splice site	probably benign
IGL02027:Mmp13	APN	9	7272955	missense	probably damaging	1.00
IGL02320:Mmp13	APN	9	7278941	missense	probably benign	0.00
R0143:Mmp13	UTSW	9	7276558	missense	probably damaging	1.00
R0417:Mmp13	UTSW	9	7276602	missense	probably benign
R0505:Mmp13	UTSW	9	7272929	missense	probably damaging	1.00
R0624:Mmp13	UTSW	9	7280221	missense	possibly damaging	0.69
R0632:Mmp13	UTSW	9	7274032	missense	probably damaging	1.00
R0632:Mmp13	UTSW	9	7282077	missense	possibly damaging	0.74
R1102:Mmp13	UTSW	9	7272952	missense	possibly damaging	0.55
R1387:Mmp13	UTSW	9	7282033	missense	possibly damaging	0.60
R1478:Mmp13	UTSW	9	7272892	missense	probably damaging	1.00
R1669:Mmp13	UTSW	9	7277926	missense	probably benign	0.01
R4647:Mmp13	UTSW	9	7274233	missense	probably damaging	1.00
R4648:Mmp13	UTSW	9	7274233	missense	probably damaging	1.00
R4668:Mmp13	UTSW	9	7272580	missense	possibly damaging	0.54
R4827:Mmp13	UTSW	9	7278880	missense	possibly damaging	0.68
R4898:Mmp13	UTSW	9	7272953	missense	probably benign	0.10
R5780:Mmp13	UTSW	9	7278952	missense	possibly damaging	0.76
R5946:Mmp13	UTSW	9	7276580	missense	probably damaging	1.00
R5996:Mmp13	UTSW	9	7274269	missense	probably damaging	1.00
R6102:Mmp13	UTSW	9	7276688	missense	probably benign	0.07
R6693:Mmp13	UTSW	9	7280245	missense	probably benign	0.00
R6789:Mmp13	UTSW	9	7272781	missense	probably benign	0.00
T0722:Mmp13	UTSW	9	7280857	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- TCTTCATAAGGCGAAGTCATCTC -3'
(R):5'- AGATCTGTTGTTCACACACTTGG -3'

Sequencing Primer
(F):5'- AGGCGAAGTCATCTCTTAATTTTGGC -3'
(R):5'- GAAACAATACCTTAGTGAGCATGC -3'

Posted On

2019-06-26