Mutagenetix > Incidental Mutation

Incidental Mutation 'R7039:Mmp1a'

546948

Institutional Source

Beutler Lab

Gene Symbol

Mmp1a

Ensembl Gene

ENSMUSG00000043089

Gene Name

matrix metallopeptidase 1a (interstitial collagenase)

Synonyms

Mcol-A

MMRRC Submission

045139-MU

Accession Numbers

Essential gene?

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

Stock #

R7039 (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: 99.6%
20x: 98.6%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7b	A	T	4: 56,741,022 (GRCm39)	L112Q	probably damaging	Het
Agap3	A	C	5: 24,688,399 (GRCm39)	I396L	probably benign	Het
AI987944	G	T	7: 41,023,880 (GRCm39)	S366R	probably benign	Het
Aox3	A	G	1: 58,215,714 (GRCm39)	T1049A	probably damaging	Het
Ap1g2	A	T	14: 55,340,111 (GRCm39)	L407*	probably null	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Brd3	T	C	2: 27,346,929 (GRCm39)	K402E	probably damaging	Het
Cc2d2b	A	T	19: 40,790,845 (GRCm39)	D935V	probably damaging	Het
Cenpe	A	G	3: 134,961,217 (GRCm39)	N1904D	probably benign	Het
Cfap74	G	T	4: 155,538,565 (GRCm39)		probably null	Het
Chrdl2	A	G	7: 99,677,879 (GRCm39)	T261A	probably damaging	Het
Cyp4a14	G	A	4: 115,348,278 (GRCm39)	R400C	probably benign	Het
Dhfr	G	A	13: 92,491,791 (GRCm39)	V9I	probably benign	Het
Epha4	A	G	1: 77,483,422 (GRCm39)	S196P	probably damaging	Het
Evc2	T	A	5: 37,579,232 (GRCm39)	L1115Q	probably damaging	Het
Fat3	T	A	9: 16,287,561 (GRCm39)	E654V	probably damaging	Het
Fcgbpl1	G	A	7: 27,839,573 (GRCm39)	R462Q	possibly damaging	Het
Fer1l4	C	T	2: 155,878,650 (GRCm39)	V14I	probably benign	Het
Frmd5	A	T	2: 121,378,128 (GRCm39)		probably benign	Het
Helz	T	C	11: 107,510,144 (GRCm39)		probably null	Het
Igkv6-13	T	C	6: 70,434,498 (GRCm39)	S116G	probably benign	Het
Iscu	T	C	5: 113,914,833 (GRCm39)	V115A	possibly damaging	Het
Jade2	C	A	11: 51,719,186 (GRCm39)	K253N	probably damaging	Het
Katnal2	A	G	18: 77,134,868 (GRCm39)		probably null	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Magi3	T	C	3: 103,958,699 (GRCm39)	D462G	probably damaging	Het
Map3k14	T	C	11: 103,111,861 (GRCm39)	N940S	probably damaging	Het
Masp2	A	T	4: 148,687,043 (GRCm39)	M1L	probably benign	Het
Mga	G	A	2: 119,763,159 (GRCm39)	V1272I	probably benign	Het
Mib2	T	C	4: 155,744,158 (GRCm39)	D168G	probably damaging	Het
Msto1	A	C	3: 88,818,697 (GRCm39)	V287G	probably damaging	Het
Myo5b	T	A	18: 74,834,599 (GRCm39)	D886E	probably benign	Het
Nek10	T	C	14: 14,826,946 (GRCm38)	I48T	possibly damaging	Het
Nek10	A	T	14: 14,986,700 (GRCm38)	R1013W	probably damaging	Het
Nipsnap3a	T	C	4: 53,000,130 (GRCm39)	V194A	probably damaging	Het
Nlrp9a	A	T	7: 26,267,367 (GRCm39)	T766S	probably benign	Het
Nol10	T	A	12: 17,479,185 (GRCm39)	S672T	possibly damaging	Het
Or4a80	A	T	2: 89,583,095 (GRCm39)	F26I	probably benign	Het
Or4c121	A	T	2: 89,023,790 (GRCm39)	I196N	probably damaging	Het
Or8d1b	T	A	9: 38,887,283 (GRCm39)	F104I	probably damaging	Het
Or8j3c	A	T	2: 86,253,177 (GRCm39)	I281K	possibly damaging	Het
Patj	T	A	4: 98,457,315 (GRCm39)	N1272K	probably damaging	Het
Peak1	T	C	9: 56,165,093 (GRCm39)	E945G	probably benign	Het
Peg3	C	T	7: 6,720,858 (GRCm39)	D16N	probably damaging	Het
Pik3r4	T	G	9: 105,554,089 (GRCm39)	I1082M	possibly damaging	Het
Plekhg5	T	A	4: 152,192,242 (GRCm39)	M472K	possibly damaging	Het
Plekhm1	T	C	11: 103,286,054 (GRCm39)	D127G	probably damaging	Het
Ppfia4	G	A	1: 134,239,853 (GRCm39)	S908L	probably damaging	Het
Psmc3	A	G	2: 90,885,391 (GRCm39)	N60S	probably benign	Het
Rapgef1	T	A	2: 29,616,226 (GRCm39)	D697E	probably damaging	Het
Rapgef3	T	A	15: 97,659,449 (GRCm39)	H54L	probably benign	Het
Rhobtb3	G	A	13: 76,020,572 (GRCm39)	R577*	probably null	Het
Safb2	T	C	17: 56,871,594 (GRCm39)	E218G	possibly damaging	Het
Scaf1	C	T	7: 44,657,850 (GRCm39)	R343H	probably damaging	Het
Snx24	G	A	18: 53,473,307 (GRCm39)		probably null	Het
Tbc1d1	T	C	5: 64,442,100 (GRCm39)	F707L	probably benign	Het
Tcaf2	T	C	6: 42,603,074 (GRCm39)	T829A	probably damaging	Het
Tcea2	C	T	2: 181,328,711 (GRCm39)	Q248*	probably null	Het
Tcirg1	A	T	19: 3,946,666 (GRCm39)	L729Q	probably damaging	Het
Thap3	A	G	4: 152,070,149 (GRCm39)	F82L	probably damaging	Het
Ttk	T	A	9: 83,750,145 (GRCm39)	M700K	probably damaging	Het
Ubap2l	G	T	3: 89,909,662 (GRCm39)	P56H	probably damaging	Het
Ubr2	A	G	17: 47,321,139 (GRCm39)	S3P	probably benign	Het
Uchl3	C	T	14: 101,923,128 (GRCm39)		probably benign	Het
Vmn2r111	T	A	17: 22,767,165 (GRCm39)	E777D	probably damaging	Het
Vmn2r20	A	T	6: 123,363,082 (GRCm39)	D567E	probably damaging	Het
Vps13c	T	G	9: 67,845,045 (GRCm39)	L2043R	probably damaging	Het
Zan	T	G	5: 137,398,396 (GRCm39)	D4212A	unknown	Het
Zap70	C	T	1: 36,817,832 (GRCm39)	P278S	probably benign	Het
Zbtb8b	A	T	4: 129,321,478 (GRCm39)	M461K	possibly damaging	Het
Zfat	T	G	15: 68,052,211 (GRCm39)	I528L	probably benign	Het
Zfp532	T	G	18: 65,771,834 (GRCm39)	V784G	probably benign	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
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
R7284:Mmp1a	UTSW	9	7,465,083 (GRCm38)	makesense	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

2019-05-13