Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01349:Mmp7'

75298

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmp7

Ensembl Gene

ENSMUSG00000018623

Gene Name

matrix metallopeptidase 7

Synonyms

matrilysin, MAT

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

IGL01349

Quality Score

Status

Chromosome

Chromosomal Location

7692091-7699586 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 7699335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000018767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018767]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018767

SMART Domains

Protein: ENSMUSP00000018767
Gene: ENSMUSG00000018623

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:PG_binding_1	31	85	3e-11	PFAM
ZnMc	103	263	5.78e-60	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124572

Coding Region Coverage

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. Mice lacking the encoded protein are deficient in functional cryptdins. 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 increased sensitivity to induced colitis and corneal wound neovascularization, decreased sensitivity to myocardial infarction and pancreatic duct ligation, impaired tracheal wound healing, and altered tumor susceptibility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,242,076 (GRCm39)	S1313L	probably benign	Het
Adam28	T	C	14: 68,848,455 (GRCm39)	H667R	probably benign	Het
Arap1	T	C	7: 101,036,359 (GRCm39)	V382A	possibly damaging	Het
Arih2	T	C	9: 108,482,609 (GRCm39)	Y444C	probably damaging	Het
Asxl3	T	G	18: 22,657,294 (GRCm39)	V1768G	probably benign	Het
Bbs9	T	A	9: 22,798,979 (GRCm39)	M869K	probably benign	Het
C4bp	A	G	1: 130,570,665 (GRCm39)		probably benign	Het
Cc2d2a	A	T	5: 43,881,126 (GRCm39)	Y1167F	probably benign	Het
Cgn	T	A	3: 94,674,486 (GRCm39)	K884*	probably null	Het
Chd1l	T	C	3: 97,498,550 (GRCm39)	Y283C	probably benign	Het
Cry1	A	G	10: 84,984,603 (GRCm39)	V157A	probably benign	Het
Dcc	T	A	18: 71,503,808 (GRCm39)	D950V	probably damaging	Het
Dlc1	A	G	8: 37,050,978 (GRCm39)	F918L	probably damaging	Het
Dnah2	T	C	11: 69,366,432 (GRCm39)	N1890S	probably damaging	Het
Dnah5	A	G	15: 28,295,059 (GRCm39)		probably benign	Het
Eif4b	C	T	15: 101,999,858 (GRCm39)	T412I	probably benign	Het
Eloa	A	C	4: 135,741,758 (GRCm39)	Y29D	probably benign	Het
Erbb4	A	G	1: 68,385,752 (GRCm39)	F279S	probably benign	Het
Etl4	A	G	2: 20,718,207 (GRCm39)	D316G	probably damaging	Het
Gm5114	T	C	7: 39,058,531 (GRCm39)	S363G	probably benign	Het
Gpam	A	G	19: 55,084,551 (GRCm39)		probably null	Het
Il17rd	T	A	14: 26,817,901 (GRCm39)	S197T	probably damaging	Het
Iqsec3	T	C	6: 121,450,083 (GRCm39)	E147G	possibly damaging	Het
Itk	T	A	11: 46,232,027 (GRCm39)	T303S	possibly damaging	Het
Kcnh6	A	G	11: 105,914,743 (GRCm39)	D716G	possibly damaging	Het
Lca5	A	G	9: 83,308,670 (GRCm39)	S59P	probably damaging	Het
Lrrc40	T	C	3: 157,764,302 (GRCm39)		probably benign	Het
Mycbp2	T	C	14: 103,359,983 (GRCm39)	T4427A	probably damaging	Het
Nf2	T	C	11: 4,734,472 (GRCm39)	D513G	possibly damaging	Het
Or2y1b	T	A	11: 49,209,127 (GRCm39)	Y251*	probably null	Het
Pde7a	C	T	3: 19,283,843 (GRCm39)		probably benign	Het
Pira2	T	C	7: 3,847,138 (GRCm39)	T135A	probably damaging	Het
Rb1	T	C	14: 73,506,558 (GRCm39)	Y397C	probably damaging	Het
Ros1	A	T	10: 51,927,122 (GRCm39)	M2187K	probably damaging	Het
Ryr2	T	A	13: 11,602,125 (GRCm39)	I4586F	possibly damaging	Het
Serpinb3c	A	T	1: 107,200,513 (GRCm39)	M210K	probably damaging	Het
Slc22a19	C	A	19: 7,651,792 (GRCm39)	V472F	probably benign	Het
Slc4a11	A	G	2: 130,528,863 (GRCm39)	I462T	probably benign	Het
Spag11b	A	T	8: 19,191,492 (GRCm39)	H55L	probably damaging	Het
Trpv5	G	T	6: 41,652,309 (GRCm39)	N125K	possibly damaging	Het
Ubr4	G	T	4: 139,208,039 (GRCm39)	R4940L	unknown	Het
Vcan	T	A	13: 89,852,062 (GRCm39)	H966L	probably damaging	Het
Vmn1r204	T	A	13: 22,740,504 (GRCm39)	I45K	probably damaging	Het
Vnn3	A	T	10: 23,727,814 (GRCm39)	I75F	probably damaging	Het
Vps13b	A	T	15: 35,794,091 (GRCm39)	M2256L	probably benign	Het
Zfc3h1	T	A	10: 115,259,353 (GRCm39)	L1642M	probably damaging	Het

Other mutations in Mmp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01522:Mmp7	APN	9	7,692,229 (GRCm39)	missense	probably damaging	1.00
R1740:Mmp7	UTSW	9	7,695,278 (GRCm39)	missense	possibly damaging	0.92
R3118:Mmp7	UTSW	9	7,697,693 (GRCm39)	missense	probably benign
R3195:Mmp7	UTSW	9	7,692,219 (GRCm39)	missense	probably benign	0.03
R3196:Mmp7	UTSW	9	7,692,219 (GRCm39)	missense	probably benign	0.03
R4595:Mmp7	UTSW	9	7,697,667 (GRCm39)	missense	probably damaging	1.00
R5941:Mmp7	UTSW	9	7,697,646 (GRCm39)	missense	probably damaging	1.00
R6193:Mmp7	UTSW	9	7,695,519 (GRCm39)	missense	probably damaging	1.00
R6564:Mmp7	UTSW	9	7,695,185 (GRCm39)	missense	probably benign	0.02
R6995:Mmp7	UTSW	9	7,695,489 (GRCm39)	missense	probably damaging	0.98
R7146:Mmp7	UTSW	9	7,697,587 (GRCm39)	critical splice acceptor site	probably null
R7398:Mmp7	UTSW	9	7,697,594 (GRCm39)	missense	probably damaging	1.00
R7768:Mmp7	UTSW	9	7,697,749 (GRCm39)	nonsense	probably null
R9104:Mmp7	UTSW	9	7,697,947 (GRCm39)	intron	probably benign
R9250:Mmp7	UTSW	9	7,697,885 (GRCm39)	intron	probably benign
Z1176:Mmp7	UTSW	9	7,695,603 (GRCm39)	missense	probably damaging	1.00
Z1177:Mmp7	UTSW	9	7,695,179 (GRCm39)	missense	probably benign	0.03

Posted On

2013-10-07