Mutagenetix > Incidental Mutations

Incidental Mutation 'R7016:Mmp1a'

545314

Institutional Source

Beutler Lab

Gene Symbol

Mmp1a

Ensembl Gene

ENSMUSG00000043089

Gene Name

matrix metallopeptidase 1a (interstitial collagenase)

Synonyms

Mcol-A

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.330) question?

Stock #

R7016 (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

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151193 (fasta)

Gene Model

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

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: 98.2%

Validation Efficiency

98% (63/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	T	A	10: 77,982,956	C154S	probably benign	Het
Abcb4	T	A	5: 8,936,843	V754D	probably benign	Het
Actn1	T	A	12: 80,172,968	M710L	possibly damaging	Het
Adam1a	A	G	5: 121,521,038	F64S	probably benign	Het
Aip	G	T	19: 4,121,402	D11E	probably benign	Het
Ak7	T	A	12: 105,781,679	Y714*	probably null	Het
Amhr2	A	G	15: 102,454,364	E522G	possibly damaging	Het
Amotl1	A	G	9: 14,593,699	L108P	probably damaging	Het
Arhgef17	A	G	7: 100,878,977	S677P	probably benign	Het
Asph	T	C	4: 9,630,604		probably null	Het
Atp11b	T	C	3: 35,841,036	S908P	probably benign	Het
Atp13a3	C	A	16: 30,338,490	V903L	possibly damaging	Het
Bcam	G	A	7: 19,758,443	R576*	probably null	Het
Btbd2	A	G	10: 80,648,615	S141P	probably damaging	Het
Cacna1b	T	C	2: 24,762,848	N67S	possibly damaging	Het
Cc2d2b	A	G	19: 40,795,804	T872A	possibly damaging	Het
Ccdc24	T	A	4: 117,871,116	I144F	probably null	Het
Cep44	A	T	8: 56,544,199	F101L	possibly damaging	Het
Disp1	C	A	1: 183,087,466	R1130L	probably damaging	Het
Dnajc21	G	T	15: 10,461,407	Y152*	probably null	Het
Edem2	A	G	2: 155,716,072	F214L	possibly damaging	Het
Fam118b	G	A	9: 35,223,718	R198W	probably damaging	Het
Fam208b	A	T	13: 3,576,857	V1031E	possibly damaging	Het
Fgb	A	G	3: 83,046,064	V133A	probably benign	Het
Fsip2	A	G	2: 82,990,635	T5571A	probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,266,278		probably benign	Het
Hnf4a	T	A	2: 163,564,273	Y277N	probably damaging	Het
Htatip2	A	G	7: 49,770,835	D143G	possibly damaging	Het
Itgae	A	G	11: 73,119,516	N611D	probably damaging	Het
Ksr1	A	T	11: 79,027,536	N515K	probably damaging	Het
Lrp1	C	A	10: 127,559,967		probably null	Het
Map3k20	T	A	2: 72,378,635	V195D	probably damaging	Het
Meox2	A	G	12: 37,109,224	S132G	probably benign	Het
Nell2	T	A	15: 95,229,151	N781I	possibly damaging	Het
Odf3l2	T	C	10: 79,639,956	Y258C	probably damaging	Het
Olfr106-ps	G	A	17: 37,395,203	G221D	possibly damaging	Het
Olfr513	A	G	7: 108,755,711	N285S	probably damaging	Het
Olfr535	A	G	7: 140,493,240	T201A	probably benign	Het
Olfr631	A	G	7: 103,929,530	I236V	probably benign	Het
Otoa	A	T	7: 121,147,766	Q918L	probably damaging	Het
Palld	T	G	8: 61,515,998	K1022T	probably damaging	Het
Parp8	A	T	13: 116,895,091	S362T	probably damaging	Het
Phrf1	A	G	7: 141,237,563	E95G	probably damaging	Het
Pls1	A	T	9: 95,786,941	F76I	probably damaging	Het
Pnp	T	A	14: 50,950,249		probably null	Het
Ptdss1	A	C	13: 66,972,621	M294L	probably benign	Het
Rictor	T	A	15: 6,774,880		probably null	Het
Rilp	A	G	11: 75,510,919	E175G	probably damaging	Het
Serpina16	T	A	12: 103,675,371	T32S	probably benign	Het
Sim1	C	T	10: 50,984,250	S736L	probably benign	Het
Smarcc2	T	G	10: 128,485,329		probably null	Het
Smtn	A	G	11: 3,530,368		probably null	Het
Sspo	T	A	6: 48,449,164	W98R	probably damaging	Het
St8sia3	A	T	18: 64,269,583	I98F	probably benign	Het
Taf10	A	T	7: 105,743,998		probably null	Het
Tbc1d4	T	A	14: 101,487,441	N580I	probably damaging	Het
Trim12c	A	T	7: 104,348,206	C48S		Het
Tsc22d1	C	A	14: 76,417,542	T405K	probably damaging	Het
Tubgcp5	A	G	7: 55,794,229	D2G	possibly damaging	Het
Wwc2	T	C	8: 47,847,548	E960G	unknown	Het
Yme1l1	T	A	2: 23,186,355		probably null	Het
Zbtb2	G	C	10: 4,368,646	P460R	probably damaging	Het
Zfp62	T	G	11: 49,215,937	I285S	probably damaging	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
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
R7537: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
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

2019-05-13