Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02559:Mmp28'

298631

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmp28

Ensembl Gene

ENSMUSG00000020682

Gene Name

matrix metallopeptidase 28 (epilysin)

Synonyms

epilysin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL02559

Quality Score

Status

Chromosome

Chromosomal Location

83331594-83353890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 83338566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 128 (N128K)

Ref Sequence

ENSEMBL: ENSMUSP00000112566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021020] [ENSMUST00000103209] [ENSMUST00000108137] [ENSMUST00000119346]

AlphaFold

Q8CGV8

Predicted Effect

probably benign
Transcript: ENSMUST00000021020
AA Change: N128K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021020
Gene: ENSMUSG00000020682
AA Change: N128K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PG_binding_1	31	86	1e-11	PFAM
low complexity region	114	125	N/A	INTRINSIC
ZnMc	126	285	3.92e-39	SMART
HX	328	361	7.46e0	SMART
HX	363	406	1.64e-1	SMART
HX	408	454	1.78e-2	SMART
HX	456	500	5.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103209
AA Change: N128K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099498
Gene: ENSMUSG00000020682
AA Change: N128K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PG_binding_1	31	86	9.7e-12	PFAM
low complexity region	114	125	N/A	INTRINSIC
ZnMc	126	285	3.92e-39	SMART
HX	349	392	1.64e-1	SMART
HX	394	440	1.78e-2	SMART
HX	442	486	5.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108137
AA Change: N128K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103772
Gene: ENSMUSG00000020682
AA Change: N128K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PG_binding_1	31	86	2.6e-11	PFAM
low complexity region	114	125	N/A	INTRINSIC
ZnMc	126	285	3.92e-39	SMART
HX	328	371	2.72e-7	SMART
HX	373	416	1.64e-1	SMART
HX	418	464	1.78e-2	SMART
HX	466	510	5.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119346
AA Change: N128K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112566
Gene: ENSMUSG00000020682
AA Change: N128K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PG_binding_1	31	86	7.4e-12	PFAM
low complexity region	114	125	N/A	INTRINSIC
ZnMc	126	285	3.92e-39	SMART
HX	328	371	2.72e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138780

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Null homozygote mice have enhanced chemotaxis of macrophages into the lung upon infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,507,433 (GRCm39)	Q1004*	probably null	Het
Bahcc1	A	G	11: 120,175,998 (GRCm39)	D1914G	probably damaging	Het
Bcl11b	A	T	12: 107,881,653 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col24a1	A	T	3: 145,019,934 (GRCm39)	I102F	probably benign	Het
Col7a1	C	T	9: 108,802,284 (GRCm39)	R2063C	unknown	Het
Ddo	T	A	10: 40,523,517 (GRCm39)	L169Q	probably damaging	Het
Defb4	G	T	8: 19,251,313 (GRCm39)	C60F	probably damaging	Het
Dock9	A	T	14: 121,862,559 (GRCm39)		probably benign	Het
Dysf	A	T	6: 84,044,428 (GRCm39)		probably benign	Het
Fasn	G	A	11: 120,699,892 (GRCm39)	A2253V	possibly damaging	Het
Fbxw26	T	C	9: 109,551,232 (GRCm39)	D355G	probably benign	Het
Gak	C	T	5: 108,732,098 (GRCm39)	E797K	probably null	Het
Gm10654	T	C	8: 71,384,774 (GRCm39)		noncoding transcript	Het
Gnas	T	C	2: 174,183,729 (GRCm39)		probably benign	Het
H2bc11	T	A	13: 22,227,533 (GRCm39)	V45E	possibly damaging	Het
Hdac3	A	G	18: 38,087,944 (GRCm39)	F8S	probably damaging	Het
Hrh4	T	C	18: 13,140,301 (GRCm39)		probably null	Het
Klhl1	A	G	14: 96,389,396 (GRCm39)	V586A	possibly damaging	Het
Lct	T	C	1: 128,222,003 (GRCm39)	N1512S	probably damaging	Het
Mndal	T	C	1: 173,700,486 (GRCm39)	T162A	probably benign	Het
Myh3	A	G	11: 66,991,921 (GRCm39)	E1822G	possibly damaging	Het
Mylpf	A	G	7: 126,813,315 (GRCm39)	Y133C	probably damaging	Het
Nup210l	G	A	3: 90,067,260 (GRCm39)	A767T	probably benign	Het
Or10j3b	T	C	1: 173,044,088 (GRCm39)	V290A	probably damaging	Het
Or52n2	T	A	7: 104,542,161 (GRCm39)	R225W	probably benign	Het
Or5au1	A	G	14: 52,273,464 (GRCm39)	Y35H	probably damaging	Het
Paics	A	G	5: 77,112,451 (GRCm39)	I312V	possibly damaging	Het
Pkdrej	G	T	15: 85,702,049 (GRCm39)	Q1296K	probably benign	Het
Rufy1	A	G	11: 50,311,310 (GRCm39)	F170L	probably damaging	Het
Shcbp1	T	A	8: 4,799,305 (GRCm39)	E93V	probably damaging	Het
Slamf1	T	A	1: 171,594,826 (GRCm39)	I11K	possibly damaging	Het
Slc5a5	C	T	8: 71,342,915 (GRCm39)	G215D	probably damaging	Het
Slco1a1	A	T	6: 141,867,514 (GRCm39)	V473D	probably benign	Het
Slit1	A	G	19: 41,709,524 (GRCm39)	V123A	probably benign	Het
Srgap2	A	C	1: 131,452,674 (GRCm39)		probably null	Het
Stk32c	T	C	7: 138,700,606 (GRCm39)	M208V	probably benign	Het
Syt15	T	C	14: 33,943,760 (GRCm39)	V103A	probably benign	Het
Tacc2	T	A	7: 130,360,997 (GRCm39)	L456Q	probably damaging	Het
Tanc1	A	G	2: 59,554,998 (GRCm39)		probably benign	Het
Tepsin	G	T	11: 119,987,731 (GRCm39)	D62E	probably benign	Het
Thap3	T	C	4: 152,068,144 (GRCm39)	D106G	probably benign	Het
Ttn	T	C	2: 76,616,561 (GRCm39)	D14818G	probably damaging	Het
Txndc2	T	C	17: 65,946,585 (GRCm39)	N39S	possibly damaging	Het
Ubxn11	A	G	4: 133,852,254 (GRCm39)	E200G	probably damaging	Het
Vmn2r11	T	G	5: 109,200,046 (GRCm39)	Q469P	probably damaging	Het
Yipf2	T	C	9: 21,503,482 (GRCm39)	T22A	probably damaging	Het
Ypel1	T	C	16: 16,927,515 (GRCm39)	K26E	possibly damaging	Het

Other mutations in Mmp28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01462:Mmp28	APN	11	83,334,602 (GRCm39)	missense	possibly damaging	0.93
R0399:Mmp28	UTSW	11	83,342,558 (GRCm39)	missense	probably damaging	1.00
R0492:Mmp28	UTSW	11	83,334,629 (GRCm39)	missense	probably damaging	1.00
R1432:Mmp28	UTSW	11	83,333,765 (GRCm39)	missense	probably damaging	1.00
R1822:Mmp28	UTSW	11	83,335,045 (GRCm39)	missense	probably damaging	0.99
R2181:Mmp28	UTSW	11	83,333,543 (GRCm39)	missense	possibly damaging	0.92
R5346:Mmp28	UTSW	11	83,333,489 (GRCm39)	missense	probably benign
R5532:Mmp28	UTSW	11	83,333,684 (GRCm39)	missense	probably damaging	1.00
R5548:Mmp28	UTSW	11	83,334,733 (GRCm39)	nonsense	probably null
R7580:Mmp28	UTSW	11	83,335,658 (GRCm39)	missense	probably damaging	0.98
R7882:Mmp28	UTSW	11	83,334,752 (GRCm39)	missense	probably damaging	1.00
R8957:Mmp28	UTSW	11	83,334,636 (GRCm39)	missense	possibly damaging	0.95
R9171:Mmp28	UTSW	11	83,335,661 (GRCm39)	missense	probably benign	0.01
R9745:Mmp28	UTSW	11	83,342,283 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16