Mutagenetix > Incidental Mutation

Incidental Mutation 'R7537:Mmp1a'

583661

Institutional Source

Beutler Lab

Gene Symbol

Mmp1a

Ensembl Gene

ENSMUSG00000043089

Gene Name

matrix metallopeptidase 1a (interstitial collagenase)

Synonyms

Mcol-A

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.402) question?

Stock #

R7537 (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: 99.4%
20x: 97.9%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 122,173,988	L2229P	possibly damaging	Het
Acaca	T	A	11: 84,260,634	M786K	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adap1	T	G	5: 139,293,173	E117D	possibly damaging	Het
Ap5z1	T	C	5: 142,477,298	S746P	probably benign	Het
Appl2	A	G	10: 83,617,428	I208T	possibly damaging	Het
Astn1	G	A	1: 158,667,638		probably null	Het
Astn1	A	G	1: 158,505,386	E346G	possibly damaging	Het
Atp23	T	A	10: 126,868,725	I180L	unknown	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cdh23	A	T	10: 60,384,945	I1340N	probably benign	Het
Cdh8	G	A	8: 99,098,885	Q493*	probably null	Het
Ces1g	T	C	8: 93,319,827	I357V	probably benign	Het
Ddx46	A	G	13: 55,650,478	D226G	probably damaging	Het
Eea1	C	T	10: 95,994,905	Q143*	probably null	Het
Erlin2	G	T	8: 27,031,772		probably null	Het
Fat3	T	A	9: 15,938,319	D3929V	probably damaging	Het
Flt3	T	C	5: 147,334,437	D898G	probably damaging	Het
Gm16519	A	G	17: 70,929,356	N100S	probably benign	Het
Gnl1	A	G	17: 35,988,536	H533R	probably damaging	Het
Gphn	A	G	12: 78,504,680	T301A	possibly damaging	Het
Herc2	C	T	7: 56,219,779	R4295*	probably null	Het
Insm2	T	C	12: 55,599,518	S16P	possibly damaging	Het
Jak2	C	T	19: 29,298,637	T778I	probably benign	Het
Lrriq3	A	G	3: 155,101,097	T128A	probably damaging	Het
Lst1	A	G	17: 35,186,944		probably null	Het
Magi1	G	T	6: 93,708,110	Y762*	probably null	Het
Man2b1	T	A	8: 85,090,965	C358*	probably null	Het
Mga	T	C	2: 119,935,551	V1432A	probably damaging	Het
Morc2a	C	T	11: 3,683,566	Q587*	probably null	Het
Mrc2	T	C	11: 105,292,797	I4T	probably benign	Het
Muc16	C	A	9: 18,638,135	V5621F	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Myo3b	A	G	2: 70,217,169	R340G	probably benign	Het
Nipal3	T	C	4: 135,490,937	Y34C	probably damaging	Het
Nktr	T	A	9: 121,749,279	D804E	unknown	Het
Nlrp4b	A	G	7: 10,714,889	M340V	probably benign	Het
Olfr1039	A	G	2: 86,131,264	V133A	probably benign	Het
Olfr385	T	A	11: 73,589,268	T157S	probably benign	Het
Olfr680-ps1	A	T	7: 105,092,771	M16K	probably benign	Het
Olfr701	G	A	7: 106,818,374	C97Y	probably damaging	Het
Pard3	T	A	8: 127,610,582	N1271K	probably damaging	Het
Pcdhb11	A	T	18: 37,421,619	M1L	possibly damaging	Het
Pclo	T	C	5: 14,682,104	V3540A	unknown	Het
Pemt	A	G	11: 59,976,844	F154S	probably damaging	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Rnpc3	G	T	3: 113,613,832	T376K	probably benign	Het
Rpe65	A	G	3: 159,604,609	Y143C	probably damaging	Het
Sbk2	T	C	7: 4,963,149	E12G	probably benign	Het
Slc2a5	T	C	4: 150,129,069	I106T	possibly damaging	Het
Snx13	A	G	12: 35,085,982	D92G	probably damaging	Het
Sorl1	C	T	9: 41,980,688	V1889I	probably benign	Het
Spag17	A	T	3: 99,939,247	N29I	possibly damaging	Het
Speg	T	C	1: 75,401,464	V878A	probably damaging	Het
Timp4	A	G	6: 115,250,460	S53P	probably damaging	Het
Tssk1	G	T	16: 17,895,084	E244D	probably benign	Het
Usp29	A	C	7: 6,961,220	T21P	possibly damaging	Het
Vmn2r85	A	T	10: 130,422,866	V440E	probably benign	Het
Wdr59	T	C	8: 111,490,369	D270G		Het
Zbbx	G	A	3: 75,085,519	P223S	probably damaging	Het
Zfp936	T	A	7: 43,189,815	C235*	probably null	Het
Zranb3	A	T	1: 128,032,847		probably null	Het

Other mutations in Mmp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Mmp1a	APN	9	7476259	missense	probably benign	0.04
IGL02179:Mmp1a	APN	9	7464273	missense	probably benign	0.23
IGL02738:Mmp1a	APN	9	7464301	splice site	probably benign
IGL02984:Mmp1a	UTSW	9	7465083	makesense	probably null
IGL02988:Mmp1a	UTSW	9	7465083	makesense	probably null
IGL02991:Mmp1a	UTSW	9	7465083	makesense	probably null
IGL03014:Mmp1a	UTSW	9	7465083	makesense	probably null
IGL03050:Mmp1a	UTSW	9	7465083	makesense	probably null
IGL03054:Mmp1a	UTSW	9	7465083	makesense	probably null
IGL03055:Mmp1a	UTSW	9	7465083	makesense	probably null
IGL03097:Mmp1a	UTSW	9	7465083	makesense	probably null
IGL03098:Mmp1a	UTSW	9	7465083	makesense	probably null
IGL03134:Mmp1a	UTSW	9	7465083	makesense	probably null
IGL03138:Mmp1a	UTSW	9	7465083	makesense	probably null
IGL03147:Mmp1a	UTSW	9	7465083	makesense	probably null
R0095:Mmp1a	UTSW	9	7465620	missense	possibly damaging	0.51
R0095:Mmp1a	UTSW	9	7465620	missense	possibly damaging	0.51
R1422:Mmp1a	UTSW	9	7464298	splice site	probably null
R1663:Mmp1a	UTSW	9	7465656	missense	probably benign	0.33
R1801:Mmp1a	UTSW	9	7475390	missense	probably damaging	1.00
R2171:Mmp1a	UTSW	9	7475356	missense	probably damaging	0.99
R3415:Mmp1a	UTSW	9	7464869	missense	possibly damaging	0.92
R3901:Mmp1a	UTSW	9	7475345	makesense	probably null
R4175:Mmp1a	UTSW	9	7467235	missense	probably benign	0.03
R5406:Mmp1a	UTSW	9	7467293	missense	probably damaging	1.00
R6462:Mmp1a	UTSW	9	7467038	missense	probably benign	0.01
R7016:Mmp1a	UTSW	9	7465083	makesense	probably null
R7039:Mmp1a	UTSW	9	7465083	makesense	probably null
R7098:Mmp1a	UTSW	9	7475937	missense	probably benign	0.00
R7144:Mmp1a	UTSW	9	7475318	missense	probably damaging	1.00
R7196:Mmp1a	UTSW	9	7476017	nonsense	probably null
R7284:Mmp1a	UTSW	9	7465083	makesense	probably null
R7289:Mmp1a	UTSW	9	7467293	missense	probably damaging	1.00
R7313:Mmp1a	UTSW	9	7465083	makesense	probably null
R7510:Mmp1a	UTSW	9	7465083	makesense	probably null
R7574:Mmp1a	UTSW	9	7465083	makesense	probably null
R7626:Mmp1a	UTSW	9	7465083	makesense	probably null
R7755:Mmp1a	UTSW	9	7467004	missense	possibly damaging	0.92
R7789:Mmp1a	UTSW	9	7475265	missense	possibly damaging	0.70
R7791:Mmp1a	UTSW	9	7465083	makesense	probably null
R7900:Mmp1a	UTSW	9	7465083	makesense	probably null
R8000:Mmp1a	UTSW	9	7476214	missense	probably benign	0.11
R8009:Mmp1a	UTSW	9	7467235	missense	possibly damaging	0.76
R8039:Mmp1a	UTSW	9	7465083	makesense	probably null
R8072:Mmp1a	UTSW	9	7465083	makesense	probably null
R8497:Mmp1a	UTSW	9	7465083	makesense	probably null
R8884:Mmp1a	UTSW	9	7465083	makesense	probably null
R8890:Mmp1a	UTSW	9	7465083	makesense	probably null
R9146:Mmp1a	UTSW	9	7464997	missense	probably damaging	0.98
R9213:Mmp1a	UTSW	9	7475363	missense	possibly damaging	0.95
R9425:Mmp1a	UTSW	9	7476209	missense	probably damaging	1.00
R9565:Mmp1a	UTSW	9	7465083	makesense	probably null
R9588:Mmp1a	UTSW	9	7467224	missense	probably benign	0.43
R9599:Mmp1a	UTSW	9	7465083	makesense	probably null
R9612:Mmp1a	UTSW	9	7465083	makesense	probably null
RF004:Mmp1a	UTSW	9	7465083	makesense	probably null
X0020:Mmp1a	UTSW	9	7465626	missense	probably damaging	1.00
Z1177:Mmp1a	UTSW	9	7464230	missense	probably benign	0.21
Z1177:Mmp1a	UTSW	9	7467033	missense	possibly damaging	0.68

Predicted Primers

Posted On

2019-10-17