Mutagenetix > Incidental Mutation

Incidental Mutation 'R7284:Mmp1a'

565875

Institutional Source

Beutler Lab

Gene Symbol

Mmp1a

Ensembl Gene

ENSMUSG00000043089

Gene Name

matrix metallopeptidase 1a (interstitial collagenase)

Synonyms

Mcol-A

MMRRC Submission

045392-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

R7284 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

7464141-7476857 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

TG to TGG at 7465083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151193 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034492] [ENSMUST00000217651]

AlphaFold

Q9EPL5

Predicted Effect

probably null
Transcript: ENSMUST00000034492

SMART Domains

Protein: ENSMUSP00000034492
Gene: ENSMUSG00000043089

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:PG_binding_1	25	84	8.2e-14	PFAM
ZnMc	97	259	2.99e-44	SMART
HX	281	323	8.12e-6	SMART
HX	325	369	7.81e-8	SMART
HX	374	421	5.82e-16	SMART
HX	423	463	2.18e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000217651

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme that degrades collagens. Mice lacking the encoded protein exhibit decreased susceptibility to chemical carcinogen-induced lung tumor development and angiogenesis. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced inflammatory response following chemical induction of tumors and male mice exhibit fewer large induced tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	G	T	7: 12,246,605 (GRCm39)	E34*	probably null	Het
4933421I07Rik	C	T	7: 42,097,404 (GRCm39)	R30H	probably damaging	Het
AB124611	C	A	9: 21,450,400 (GRCm39)	Q158K	probably benign	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abcc9	A	T	6: 142,628,643 (GRCm39)	L367Q	probably damaging	Het
Aftph	T	C	11: 20,676,812 (GRCm39)	K266E	probably benign	Het
Akap9	T	A	5: 4,006,246 (GRCm39)	D190E	probably damaging	Het
Angel1	G	T	12: 86,767,298 (GRCm39)	D359E	probably damaging	Het
Ano6	T	C	15: 95,846,184 (GRCm39)	I474T	probably damaging	Het
Atp2c1	A	T	9: 105,398,008 (GRCm39)		probably null	Het
Best1	T	C	19: 9,963,737 (GRCm39)		probably null	Het
Bhlha9	A	G	11: 76,563,492 (GRCm39)	S40G	probably benign	Het
Cabin1	G	A	10: 75,530,668 (GRCm39)	R178C		Het
Ccnb1ip1	A	G	14: 51,029,736 (GRCm39)	Y109H	probably damaging	Het
Col14a1	T	C	15: 55,381,715 (GRCm39)	S1763P	probably damaging	Het
Dars1	T	C	1: 128,300,004 (GRCm39)	T327A	probably benign	Het
Dhx8	T	C	11: 101,645,648 (GRCm39)	Y889H	probably damaging	Het
Dlg4	T	A	11: 69,932,908 (GRCm39)	Y523*	probably null	Het
Dnah10	A	T	5: 124,909,662 (GRCm39)	D4484V	probably benign	Het
Dnah9	A	T	11: 65,881,302 (GRCm39)	M2591K	probably damaging	Het
Dock2	T	C	11: 34,180,672 (GRCm39)	E1715G	probably benign	Het
Dym	A	G	18: 75,252,242 (GRCm39)	Y336C	possibly damaging	Het
Ezh2	A	G	6: 47,521,453 (GRCm39)	M439T	probably benign	Het
Folr1	T	G	7: 101,508,677 (GRCm39)	N83H	possibly damaging	Het
Ganab	T	C	19: 8,889,904 (GRCm39)	L656P	probably damaging	Het
Gmnc	T	C	16: 26,779,542 (GRCm39)	H161R	probably benign	Het
Gria4	A	G	9: 4,472,017 (GRCm39)	Y491H	probably damaging	Het
Heatr3	T	A	8: 88,883,402 (GRCm39)	C412S	possibly damaging	Het
Hmgcr	A	C	13: 96,789,173 (GRCm39)	V716G	probably damaging	Het
Igsf9	A	G	1: 172,324,479 (GRCm39)	D799G	probably damaging	Het
Ikbkb	T	C	8: 23,158,976 (GRCm39)	T501A	probably benign	Het
Kbtbd3	C	T	9: 4,330,690 (GRCm39)	R355*	probably null	Het
Kcna7	T	A	7: 45,058,652 (GRCm39)	I313N	probably damaging	Het
Kirrel1	A	C	3: 86,990,694 (GRCm39)	D709E	probably benign	Het
Klb	T	A	5: 65,540,821 (GRCm39)	S971R	probably benign	Het
Krtap4-13	A	T	11: 99,700,238 (GRCm39)	C140*	probably null	Het
Lacc1	A	T	14: 77,268,309 (GRCm39)	L334Q	probably damaging	Het
Map6d1	T	A	16: 20,059,775 (GRCm39)	R97*	probably null	Het
Mgat5b	T	C	11: 116,835,746 (GRCm39)	S129P	probably damaging	Het
Myh9	G	A	15: 77,671,796 (GRCm39)	R432C	probably damaging	Het
Ncf4	A	G	15: 78,144,902 (GRCm39)	T236A	probably benign	Het
Neb	T	C	2: 52,148,804 (GRCm39)	D2581G	probably damaging	Het
Nid1	T	A	13: 13,663,675 (GRCm39)	M778K	probably benign	Het
Npas2	A	G	1: 39,363,548 (GRCm39)	D209G	probably benign	Het
Nploc4	C	T	11: 120,307,196 (GRCm39)	V181I	possibly damaging	Het
Nrcam	A	T	12: 44,610,817 (GRCm39)	I506F	probably damaging	Het
Or52w1	T	A	7: 105,017,752 (GRCm39)	M73K	probably damaging	Het
Or5h27	A	G	16: 59,006,331 (GRCm39)	*172Q	probably null	Het
Or6c3b	T	C	10: 129,527,220 (GRCm39)	N230S	probably benign	Het
Pask	T	A	1: 93,248,391 (GRCm39)	Q970L	probably benign	Het
Pfkfb4	T	C	9: 108,840,308 (GRCm39)	I308T	possibly damaging	Het
Pla2g4d	A	T	2: 120,114,617 (GRCm39)	L38Q	probably damaging	Het
Pld1	A	G	3: 28,185,882 (GRCm39)	T1036A	possibly damaging	Het
Pom121l2	A	G	13: 22,166,775 (GRCm39)	T349A	probably damaging	Het
Ppp1r13b	A	G	12: 111,801,400 (GRCm39)	I551T	possibly damaging	Het
Prps1l1	A	G	12: 35,035,317 (GRCm39)	N144S	possibly damaging	Het
Prss56	A	G	1: 87,113,123 (GRCm39)	N179S	probably null	Het
Prune2	T	C	19: 17,097,250 (GRCm39)	L918P	probably damaging	Het
Ptprz1	C	T	6: 23,000,097 (GRCm39)	T729I	probably damaging	Het
Relch	T	A	1: 105,662,308 (GRCm39)	H942Q	probably benign	Het
Rrp7a	T	C	15: 83,006,071 (GRCm39)	T60A	probably damaging	Het
Snx27	A	G	3: 94,431,498 (GRCm39)	Y299H	probably damaging	Het
Spaca3	G	T	11: 80,754,847 (GRCm39)	R96L	possibly damaging	Het
Stat1	A	G	1: 52,188,081 (GRCm39)	N495S	probably benign	Het
Tas2r130	T	C	6: 131,607,270 (GRCm39)	N175S	probably benign	Het
Tcaf2	A	G	6: 42,606,472 (GRCm39)	L494P	probably damaging	Het
Tdrd12	C	A	7: 35,179,561 (GRCm39)		probably null	Het
Thbs1	A	G	2: 117,949,837 (GRCm39)	N604S	probably damaging	Het
Togaram1	T	C	12: 65,055,454 (GRCm39)	F1482L	probably benign	Het
Trhr2	A	T	8: 123,087,114 (GRCm39)	S109T	probably damaging	Het
Trpc3	A	T	3: 36,678,562 (GRCm39)	M841K	probably damaging	Het
Tubgcp5	C	T	7: 55,473,315 (GRCm39)	R798C	probably benign	Het
Xirp2	T	A	2: 67,347,173 (GRCm39)	M3138K	probably benign	Het
Zdhhc4	G	A	5: 143,307,646 (GRCm39)	T125I	probably benign	Het
Zfp239	T	A	6: 117,848,716 (GRCm39)	C151*	probably null	Het
Zfp473	C	T	7: 44,382,627 (GRCm39)	E569K	not run	Het
Zzef1	T	A	11: 72,777,516 (GRCm39)	D1782E	probably damaging	Het

Other mutations in Mmp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Mmp1a	APN	9	7,476,260 (GRCm39)	missense	probably benign	0.04
IGL02179:Mmp1a	APN	9	7,464,273 (GRCm39)	missense	probably benign	0.23
IGL02738:Mmp1a	APN	9	7,464,301 (GRCm39)	splice site	probably benign
IGL02984:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
IGL02988:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
IGL02991:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
IGL03014:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
IGL03050:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
IGL03054:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
IGL03055:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
IGL03097:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
IGL03098:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
IGL03134:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
IGL03138:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
IGL03147:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R0095:Mmp1a	UTSW	9	7,465,621 (GRCm39)	missense	possibly damaging	0.51
R0095:Mmp1a	UTSW	9	7,465,621 (GRCm39)	missense	possibly damaging	0.51
R1422:Mmp1a	UTSW	9	7,464,298 (GRCm39)	splice site	probably null
R1663:Mmp1a	UTSW	9	7,465,657 (GRCm39)	missense	probably benign	0.33
R1801:Mmp1a	UTSW	9	7,475,391 (GRCm39)	missense	probably damaging	1.00
R2171:Mmp1a	UTSW	9	7,475,357 (GRCm39)	missense	probably damaging	0.99
R3415:Mmp1a	UTSW	9	7,464,869 (GRCm39)	missense	possibly damaging	0.92
R3901:Mmp1a	UTSW	9	7,475,346 (GRCm39)	makesense	probably null
R4175:Mmp1a	UTSW	9	7,467,236 (GRCm39)	missense	probably benign	0.03
R5406:Mmp1a	UTSW	9	7,467,294 (GRCm39)	missense	probably damaging	1.00
R6462:Mmp1a	UTSW	9	7,467,039 (GRCm39)	missense	probably benign	0.01
R7016:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R7039:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R7098:Mmp1a	UTSW	9	7,475,938 (GRCm39)	missense	probably benign	0.00
R7144:Mmp1a	UTSW	9	7,475,319 (GRCm39)	missense	probably damaging	1.00
R7196:Mmp1a	UTSW	9	7,476,018 (GRCm39)	nonsense	probably null
R7289:Mmp1a	UTSW	9	7,467,294 (GRCm39)	missense	probably damaging	1.00
R7313:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R7510:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R7537:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R7574:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R7626:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R7755:Mmp1a	UTSW	9	7,467,005 (GRCm39)	missense	possibly damaging	0.92
R7789:Mmp1a	UTSW	9	7,475,266 (GRCm39)	missense	possibly damaging	0.70
R7791:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R7900:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R8000:Mmp1a	UTSW	9	7,476,215 (GRCm39)	missense	probably benign	0.11
R8009:Mmp1a	UTSW	9	7,467,236 (GRCm39)	missense	possibly damaging	0.76
R8039:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R8072:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R8497:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R8884:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R8890:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R9146:Mmp1a	UTSW	9	7,464,997 (GRCm39)	missense	probably damaging	0.98
R9213:Mmp1a	UTSW	9	7,475,364 (GRCm39)	missense	possibly damaging	0.95
R9425:Mmp1a	UTSW	9	7,476,210 (GRCm39)	missense	probably damaging	1.00
R9565:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R9588:Mmp1a	UTSW	9	7,467,225 (GRCm39)	missense	probably benign	0.43
R9599:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R9612:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
RF004:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
X0020:Mmp1a	UTSW	9	7,465,627 (GRCm39)	missense	probably damaging	1.00
Z1177:Mmp1a	UTSW	9	7,467,034 (GRCm39)	missense	possibly damaging	0.68
Z1177:Mmp1a	UTSW	9	7,464,230 (GRCm39)	missense	probably benign	0.21

Predicted Primers

Posted On

2019-06-26