Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02756:Mmp9'

306430

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmp9

Ensembl Gene

ENSMUSG00000017737

Gene Name

matrix metallopeptidase 9

Synonyms

gelatinase B, MMP-9, Gelatinase B, B/MMP9, Gel B, Clg4b

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02756

Quality Score

Status

Chromosome

Chromosomal Location

164940780-164955850 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164949315 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 135 (D135G)

Ref Sequence

ENSEMBL: ENSMUSP00000017881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017881] [ENSMUST00000137626]

Predicted Effect

probably benign
Transcript: ENSMUST00000017881
AA Change: D135G

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000017881
Gene: ENSMUSG00000017737
AA Change: D135G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:PG_binding_1	39	95	2.9e-8	PFAM
ZnMc	112	445	3.92e-39	SMART
FN2	223	271	8.08e-29	SMART
FN2	281	329	6.93e-28	SMART
FN2	340	388	9.28e-29	SMART
low complexity region	449	468	N/A	INTRINSIC
Pfam:PT	474	508	1.1e-11	PFAM
HX	539	583	2.4e-8	SMART
HX	585	626	9.33e-6	SMART
HX	631	677	2.74e-3	SMART
HX	679	721	1.74e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134382

Predicted Effect

probably benign
Transcript: ENSMUST00000137626

SMART Domains

Protein: ENSMUSP00000120628
Gene: ENSMUSG00000017737

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PDB:1L6J\|A	20	67	5e-15	PDB
SCOP:d1l6ja1	29	67	2e-7	SMART

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 that degrades collagens of type IV, V and XI, and elastin. Mice lacking the encoded protein exhibit an abnormal pattern of skeletal growth plate vascularization and ossification, reduced keratinocyte hyperproliferation at all neoplastic stages, a decreased incidence of invasive tumors, and resistance to experimental autoimmune encephalomyelitis. [provided by RefSeq, Feb 2016]
PHENOTYPE: Null mutants have short long bones with compensatory growth via delayed ossification and apoptosis of hypertrophic chondroctyes. Mutants are protected against ischemic brain injury, damage caused by myocardial infarction, and allergic airway inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,165,108	D54V	probably damaging	Het
Adamts18	C	A	8: 113,714,344		probably benign	Het
Angptl3	T	A	4: 99,031,162	L53Q	probably damaging	Het
Apc	A	G	18: 34,314,535	T1461A	probably damaging	Het
Arl11	T	A	14: 61,311,086	V115D	probably damaging	Het
Cabp4	C	A	19: 4,138,561	V173L	possibly damaging	Het
Casq1	T	A	1: 172,215,105	D230V	probably damaging	Het
Cdc42bpa	A	G	1: 180,109,259	I821V	possibly damaging	Het
Cfap65	T	C	1: 74,905,080	Y1494C	probably benign	Het
Chd1	T	A	17: 15,730,807	S215T	probably damaging	Het
Csf2rb2	T	C	15: 78,284,849	E593G	possibly damaging	Het
Cstf1	A	G	2: 172,375,875	D136G	probably damaging	Het
Ddx19b	T	C	8: 111,011,278		probably benign	Het
Dido1	A	T	2: 180,661,923	L1396Q	probably benign	Het
Ermn	A	G	2: 58,047,812	I263T	probably damaging	Het
F12	T	A	13: 55,421,067	Q294L	possibly damaging	Het
Far2	A	T	6: 148,157,391	I192F	probably damaging	Het
Fshb	T	A	2: 107,058,873	I29F	probably damaging	Het
Gcgr	T	A	11: 120,536,985	Y251N	probably benign	Het
Gpr158	A	G	2: 21,827,079	I997V	possibly damaging	Het
Gprc5d	A	G	6: 135,116,615	V98A	probably damaging	Het
H2-T23	T	C	17: 36,031,688	E186G	probably damaging	Het
Khdrbs3	C	T	15: 69,024,836	T115I	probably benign	Het
Kifap3	C	T	1: 163,862,028	T527M	probably damaging	Het
Mfsd2a	C	T	4: 122,948,539	A512T	probably benign	Het
Mylk	T	C	16: 34,963,646	V1394A	probably benign	Het
Nek9	A	C	12: 85,311,336		probably null	Het
Olfr1008	T	C	2: 85,690,058	S210P	probably damaging	Het
Olfr638	T	C	7: 104,003,659	I128T	probably damaging	Het
P2rx2	T	A	5: 110,342,410		probably benign	Het
P4htm	A	G	9: 108,579,778	L410P	probably damaging	Het
Pik3c2a	A	T	7: 116,364,513	W921R	probably benign	Het
Pnisr	T	C	4: 21,862,175	F288L	probably benign	Het
Ppp4r3a	C	T	12: 101,058,323		probably null	Het
Prss34	T	C	17: 25,299,277	S144P	probably damaging	Het
Qrsl1	T	C	10: 43,882,114	T328A	probably benign	Het
Rab33b	A	T	3: 51,484,524	T65S	probably damaging	Het
Rdh8	A	G	9: 20,825,341	S235G	possibly damaging	Het
Rrp12	T	C	19: 41,896,061	K6R	probably benign	Het
Sec24a	T	C	11: 51,696,733	D1025G	probably benign	Het
Sgo2a	T	G	1: 58,016,350	N564K	probably damaging	Het
Slc43a3	A	T	2: 84,944,268	M130L	probably benign	Het
Soat1	T	C	1: 156,446,575	I89V	probably benign	Het
St3gal5	A	G	6: 72,149,173	D307G	probably null	Het
Stxbp3-ps	C	T	19: 9,557,829		noncoding transcript	Het
Tacr2	A	G	10: 62,261,690		probably benign	Het
Tg	C	T	15: 66,734,586	T193I	probably benign	Het
Tnik	A	G	3: 28,542,030	T191A	probably damaging	Het
Trim27	T	C	13: 21,190,086		probably benign	Het
Usf2	A	T	7: 30,946,992	C134*	probably null	Het
Usp14	A	G	18: 10,001,769		probably null	Het
Usp47	T	C	7: 112,093,063	S911P	possibly damaging	Het
Vmn1r73	T	A	7: 11,756,647	S131T	possibly damaging	Het
Vmn2r80	T	C	10: 79,194,311	I657T	probably damaging	Het
Zfp935	A	T	13: 62,454,887	C166*	probably null	Het

Other mutations in Mmp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01707:Mmp9	APN	2	164949989	missense	probably benign	0.13
IGL01980:Mmp9	APN	2	164950916	missense	probably benign	0.01
IGL02117:Mmp9	APN	2	164949724	missense	probably damaging	1.00
IGL02515:Mmp9	APN	2	164948956	missense	probably damaging	1.00
IGL02833:Mmp9	APN	2	164949803	missense	probably damaging	1.00
IGL02893:Mmp9	APN	2	164949068	splice site	probably null
IGL02949:Mmp9	APN	2	164951119	missense	probably damaging	1.00
IGL03097:Mmp9	UTSW	2	164950806	intron	probably null
R0001:Mmp9	UTSW	2	164948383	missense	probably benign	0.02
R0125:Mmp9	UTSW	2	164951257	missense	probably damaging	1.00
R0532:Mmp9	UTSW	2	164949820	nonsense	probably null
R1300:Mmp9	UTSW	2	164948956	missense	probably damaging	1.00
R1341:Mmp9	UTSW	2	164949327	missense	probably damaging	1.00
R1366:Mmp9	UTSW	2	164953342	missense	probably damaging	1.00
R1711:Mmp9	UTSW	2	164949422	missense	probably damaging	1.00
R2138:Mmp9	UTSW	2	164952467	nonsense	probably null
R3405:Mmp9	UTSW	2	164949390	missense	probably damaging	0.99
R3406:Mmp9	UTSW	2	164949390	missense	probably damaging	0.99
R4460:Mmp9	UTSW	2	164949038	missense	probably damaging	0.99
R4655:Mmp9	UTSW	2	164951202	missense	probably benign	0.29
R5155:Mmp9	UTSW	2	164949066	critical splice donor site	probably null
R5309:Mmp9	UTSW	2	164950795	unclassified	probably benign
R5355:Mmp9	UTSW	2	164950992	missense	possibly damaging	0.76
R5476:Mmp9	UTSW	2	164952494	missense	probably benign
R5505:Mmp9	UTSW	2	164953608	missense	probably benign	0.34
R5646:Mmp9	UTSW	2	164949050	missense	probably benign	0.00
R5725:Mmp9	UTSW	2	164949336	missense	possibly damaging	0.93
R6968:Mmp9	UTSW	2	164952940	missense	probably benign
R7082:Mmp9	UTSW	2	164948892	missense	probably benign	0.25
R7822:Mmp9	UTSW	2	164949036	nonsense	probably null
X0020:Mmp9	UTSW	2	164950373	missense	probably damaging	1.00

Posted On

2015-04-16