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: 0.286) question?

Stock #

R7284 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

7464141-7476869 bp(+) (GRCm38)

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: 12,512,678 (GRCm38)	E34*	probably null	Het
4933421I07Rik	C	T	7: 42,447,980 (GRCm38)	R30H	probably damaging	Het
AB124611	C	A	9: 21,539,104 (GRCm38)	Q158K	probably benign	Het
Abcc3	C	T	11: 94,357,047 (GRCm38)	A1207T	probably benign	Het
Abcc9	A	T	6: 142,682,917 (GRCm38)	L367Q	probably damaging	Het
Aftph	T	C	11: 20,726,812 (GRCm38)	K266E	probably benign	Het
Akap9	T	A	5: 3,956,246 (GRCm38)	D190E	probably damaging	Het
Angel1	G	T	12: 86,720,524 (GRCm38)	D359E	probably damaging	Het
Ano6	T	C	15: 95,948,303 (GRCm38)	I474T	probably damaging	Het
Atp2c1	A	T	9: 105,520,809 (GRCm38)		probably null	Het
Best1	T	C	19: 9,986,373 (GRCm38)		probably null	Het
Bhlha9	A	G	11: 76,672,666 (GRCm38)	S40G	probably benign	Het
Cabin1	G	A	10: 75,694,834 (GRCm38)	R178C		Het
Ccnb1ip1	A	G	14: 50,792,279 (GRCm38)	Y109H	probably damaging	Het
Col14a1	T	C	15: 55,518,319 (GRCm38)	S1763P	probably damaging	Het
Dars1	T	C	1: 128,372,267 (GRCm38)	T327A	probably benign	Het
Dhx8	T	C	11: 101,754,822 (GRCm38)	Y889H	probably damaging	Het
Dlg4	T	A	11: 70,042,082 (GRCm38)	Y523*	probably null	Het
Dnah10	A	T	5: 124,832,598 (GRCm38)	D4484V	probably benign	Het
Dnah9	A	T	11: 65,990,476 (GRCm38)	M2591K	probably damaging	Het
Dock2	T	C	11: 34,230,672 (GRCm38)	E1715G	probably benign	Het
Dym	A	G	18: 75,119,171 (GRCm38)	Y336C	possibly damaging	Het
Ezh2	A	G	6: 47,544,519 (GRCm38)	M439T	probably benign	Het
Folr1	T	G	7: 101,859,470 (GRCm38)	N83H	possibly damaging	Het
Ganab	T	C	19: 8,912,540 (GRCm38)	L656P	probably damaging	Het
Gmnc	T	C	16: 26,960,792 (GRCm38)	H161R	probably benign	Het
Gria4	A	G	9: 4,472,017 (GRCm38)	Y491H	probably damaging	Het
Heatr3	T	A	8: 88,156,774 (GRCm38)	C412S	possibly damaging	Het
Hmgcr	A	C	13: 96,652,665 (GRCm38)	V716G	probably damaging	Het
Igsf9	A	G	1: 172,496,912 (GRCm38)	D799G	probably damaging	Het
Ikbkb	T	C	8: 22,668,960 (GRCm38)	T501A	probably benign	Het
Kbtbd3	C	T	9: 4,330,690 (GRCm38)	R355*	probably null	Het
Kcna7	T	A	7: 45,409,228 (GRCm38)	I313N	probably damaging	Het
Kirrel1	A	C	3: 87,083,387 (GRCm38)	D709E	probably benign	Het
Klb	T	A	5: 65,383,478 (GRCm38)	S971R	probably benign	Het
Krtap4-13	A	T	11: 99,809,412 (GRCm38)	C140*	probably null	Het
Lacc1	A	T	14: 77,030,869 (GRCm38)	L334Q	probably damaging	Het
Map6d1	T	A	16: 20,241,025 (GRCm38)	R97*	probably null	Het
Mgat5b	T	C	11: 116,944,920 (GRCm38)	S129P	probably damaging	Het
Myh9	G	A	15: 77,787,596 (GRCm38)	R432C	probably damaging	Het
Ncf4	A	G	15: 78,260,702 (GRCm38)	T236A	probably benign	Het
Neb	T	C	2: 52,258,792 (GRCm38)	D2581G	probably damaging	Het
Nid1	T	A	13: 13,489,090 (GRCm38)	M778K	probably benign	Het
Npas2	A	G	1: 39,324,467 (GRCm38)	D209G	probably benign	Het
Nploc4	C	T	11: 120,416,370 (GRCm38)	V181I	possibly damaging	Het
Nrcam	A	T	12: 44,564,034 (GRCm38)	I506F	probably damaging	Het
Or52w1	T	A	7: 105,368,545 (GRCm38)	M73K	probably damaging	Het
Or5h27	A	G	16: 59,185,968 (GRCm38)	*172Q	probably null	Het
Or6c3b	T	C	10: 129,691,351 (GRCm38)	N230S	probably benign	Het
Pask	T	A	1: 93,320,669 (GRCm38)	Q970L	probably benign	Het
Pfkfb4	T	C	9: 109,011,240 (GRCm38)	I308T	possibly damaging	Het
Pla2g4d	A	T	2: 120,284,136 (GRCm38)	L38Q	probably damaging	Het
Pld1	A	G	3: 28,131,733 (GRCm38)	T1036A	possibly damaging	Het
Pom121l2	A	G	13: 21,982,605 (GRCm38)	T349A	probably damaging	Het
Ppp1r13b	A	G	12: 111,834,966 (GRCm38)	I551T	possibly damaging	Het
Prps1l1	A	G	12: 34,985,318 (GRCm38)	N144S	possibly damaging	Het
Prss56	A	G	1: 87,185,401 (GRCm38)	N179S	probably null	Het
Prune2	T	C	19: 17,119,886 (GRCm38)	L918P	probably damaging	Het
Ptprz1	C	T	6: 23,000,098 (GRCm38)	T729I	probably damaging	Het
Relch	T	A	1: 105,734,583 (GRCm38)	H942Q	probably benign	Het
Rrp7a	T	C	15: 83,121,870 (GRCm38)	T60A	probably damaging	Het
Snx27	A	G	3: 94,524,191 (GRCm38)	Y299H	probably damaging	Het
Spaca3	G	T	11: 80,864,021 (GRCm38)	R96L	possibly damaging	Het
Stat1	A	G	1: 52,148,922 (GRCm38)	N495S	probably benign	Het
Tas2r130	T	C	6: 131,630,307 (GRCm38)	N175S	probably benign	Het
Tcaf2	A	G	6: 42,629,538 (GRCm38)	L494P	probably damaging	Het
Tdrd12	C	A	7: 35,480,136 (GRCm38)		probably null	Het
Thbs1	A	G	2: 118,119,356 (GRCm38)	N604S	probably damaging	Het
Togaram1	T	C	12: 65,008,680 (GRCm38)	F1482L	probably benign	Het
Trhr2	A	T	8: 122,360,375 (GRCm38)	S109T	probably damaging	Het
Trpc3	A	T	3: 36,624,413 (GRCm38)	M841K	probably damaging	Het
Tubgcp5	C	T	7: 55,823,567 (GRCm38)	R798C	probably benign	Het
Xirp2	T	A	2: 67,516,829 (GRCm38)	M3138K	probably benign	Het
Zdhhc4	G	A	5: 143,321,891 (GRCm38)	T125I	probably benign	Het
Zfp239	T	A	6: 117,871,755 (GRCm38)	C151*	probably null	Het
Zfp473	C	T	7: 44,733,203 (GRCm38)	E569K	not run	Het
Zzef1	T	A	11: 72,886,690 (GRCm38)	D1782E	probably damaging	Het

Other mutations in Mmp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Mmp1a	APN	9	7,476,259 (GRCm38)	missense	probably benign	0.04
IGL02179:Mmp1a	APN	9	7,464,273 (GRCm38)	missense	probably benign	0.23
IGL02738:Mmp1a	APN	9	7,464,301 (GRCm38)	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	7,465,620 (GRCm38)	missense	possibly damaging	0.51
R0095:Mmp1a	UTSW	9	7,465,620 (GRCm38)	missense	possibly damaging	0.51
R1422:Mmp1a	UTSW	9	7,464,298 (GRCm38)	splice site	probably null
R1663:Mmp1a	UTSW	9	7,465,656 (GRCm38)	missense	probably benign	0.33
R1801:Mmp1a	UTSW	9	7,475,390 (GRCm38)	missense	probably damaging	1.00
R2171:Mmp1a	UTSW	9	7,475,356 (GRCm38)	missense	probably damaging	0.99
R3415:Mmp1a	UTSW	9	7,464,869 (GRCm38)	missense	possibly damaging	0.92
R3901:Mmp1a	UTSW	9	7,475,345 (GRCm38)	makesense	probably null
R4175:Mmp1a	UTSW	9	7,467,235 (GRCm38)	missense	probably benign	0.03
R5406:Mmp1a	UTSW	9	7,467,293 (GRCm38)	missense	probably damaging	1.00
R6462:Mmp1a	UTSW	9	7,467,038 (GRCm38)	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	7,475,937 (GRCm38)	missense	probably benign	0.00
R7144:Mmp1a	UTSW	9	7,475,318 (GRCm38)	missense	probably damaging	1.00
R7196:Mmp1a	UTSW	9	7,476,017 (GRCm38)	nonsense	probably null
R7289:Mmp1a	UTSW	9	7,467,293 (GRCm38)	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	7,467,004 (GRCm38)	missense	possibly damaging	0.92
R7789:Mmp1a	UTSW	9	7,475,265 (GRCm38)	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	7,476,214 (GRCm38)	missense	probably benign	0.11
R8009:Mmp1a	UTSW	9	7,467,235 (GRCm38)	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 (GRCm38)	missense	probably damaging	0.98
R9213:Mmp1a	UTSW	9	7,475,363 (GRCm38)	missense	possibly damaging	0.95
R9425:Mmp1a	UTSW	9	7,476,209 (GRCm38)	missense	probably damaging	1.00
R9565:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	probably null
R9588:Mmp1a	UTSW	9	7,467,224 (GRCm38)	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	7,465,626 (GRCm38)	missense	probably damaging	1.00
Z1177:Mmp1a	UTSW	9	7,467,033 (GRCm38)	missense	possibly damaging	0.68
Z1177:Mmp1a	UTSW	9	7,464,230 (GRCm38)	missense	probably benign	0.21

Predicted Primers

Posted On

2019-06-26