Mutagenetix > Incidental Mutation

Incidental Mutation 'R1822:Mmp28'

206497

Institutional Source

Beutler Lab

Gene Symbol

Mmp28

Ensembl Gene

ENSMUSG00000020682

Gene Name

matrix metallopeptidase 28 (epilysin)

Synonyms

epilysin

MMRRC Submission

039850-MU

Accession Numbers

Essential gene?

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

Stock #

R1822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83331594-83353890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83335045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 331 (I331T)

Ref Sequence

ENSEMBL: ENSMUSP00000103772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021020] [ENSMUST00000037378] [ENSMUST00000103209] [ENSMUST00000108137] [ENSMUST00000119346] [ENSMUST00000188702]

AlphaFold

Q8CGV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000021020
AA Change: I331T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021020
Gene: ENSMUSG00000020682
AA Change: I331T

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: ENSMUST00000037378

SMART Domains

Protein: ENSMUSP00000042098
Gene: ENSMUSG00000035085

Domain	Start	End	E-Value	Type
Pfam:DUF4637	5	169	1.3e-89	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000103209
AA Change: I331T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099498
Gene: ENSMUSG00000020682
AA Change: I331T

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 damaging
Transcript: ENSMUST00000108137
AA Change: I331T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103772
Gene: ENSMUSG00000020682
AA Change: I331T

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

possibly damaging
Transcript: ENSMUST00000119346
AA Change: I331T

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112566
Gene: ENSMUSG00000020682
AA Change: I331T

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

probably benign
Transcript: ENSMUST00000188702

SMART Domains

Protein: ENSMUSP00000140664
Gene: ENSMUSG00000035085

Domain	Start	End	E-Value	Type
Pfam:DUF4637	6	111	2.8e-48	PFAM

Meta Mutation Damage Score

0.3923

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (105/108)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,847,901 (GRCm39)	T798K	possibly damaging	Het
Abtb1	T	C	6: 88,813,536 (GRCm39)	T401A	probably benign	Het
Adsl	G	T	15: 80,846,943 (GRCm39)	E70*	probably null	Het
Ahcyl2	A	G	6: 29,768,583 (GRCm39)		probably benign	Het
Akr1a1	A	G	4: 116,493,850 (GRCm39)	V310A	probably benign	Het
Alpk3	T	A	7: 80,726,679 (GRCm39)	C121*	probably null	Het
Amph	T	A	13: 19,132,625 (GRCm39)	I8N	probably damaging	Het
Ano2	G	A	6: 125,840,420 (GRCm39)	A364T	probably damaging	Het
Apbb2	T	C	5: 66,557,520 (GRCm39)	T314A	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atf7ip	A	G	6: 136,564,258 (GRCm39)	T834A	probably benign	Het
Brca2	T	G	5: 150,463,663 (GRCm39)	D1142E	probably benign	Het
Brd10	T	C	19: 29,693,814 (GRCm39)	N1960S	probably damaging	Het
Cap2	A	G	13: 46,768,823 (GRCm39)	S210G	probably benign	Het
Capn2	C	A	1: 182,300,525 (GRCm39)	E596D	possibly damaging	Het
Cdc27	A	T	11: 104,413,648 (GRCm39)	S358R	probably benign	Het
Cdhr3	C	T	12: 33,095,204 (GRCm39)	G622S	probably null	Het
Clip2	A	G	5: 134,532,081 (GRCm39)	Y540H	probably benign	Het
Crhr1	A	T	11: 104,023,898 (GRCm39)	M1L	probably benign	Het
Csmd1	T	C	8: 16,273,340 (GRCm39)	T831A	probably damaging	Het
Cwc22	T	C	2: 77,755,003 (GRCm39)		probably benign	Het
Cyp3a25	T	A	5: 145,921,763 (GRCm39)	K390N	probably damaging	Het
Cyp4a31	T	C	4: 115,423,810 (GRCm39)		probably null	Het
Cytip	A	C	2: 58,024,158 (GRCm39)	S221A	probably benign	Het
Dagla	G	A	19: 10,240,550 (GRCm39)	R227C	possibly damaging	Het
Dhx57	A	G	17: 80,560,514 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,405,630 (GRCm39)	D627E	probably damaging	Het
Dock8	A	G	19: 25,138,422 (GRCm39)	E1249G	probably benign	Het
Dpysl3	A	G	18: 43,475,393 (GRCm39)	V31A	probably benign	Het
Ecpas	A	G	4: 58,805,539 (GRCm39)		probably null	Het
Fan1	T	C	7: 64,022,554 (GRCm39)	N233S	probably benign	Het
Fras1	A	T	5: 96,918,547 (GRCm39)	I3528F	probably damaging	Het
Glipr1	T	A	10: 111,832,765 (GRCm39)	M58L	possibly damaging	Het
Gm10509	C	T	17: 21,909,765 (GRCm39)	P31S	possibly damaging	Het
Gm5070	T	C	3: 95,318,355 (GRCm39)		noncoding transcript	Het
Gramd1a	T	C	7: 30,841,998 (GRCm39)	N138S	probably damaging	Het
Grk5	T	C	19: 61,078,410 (GRCm39)	V489A	probably damaging	Het
Hmcn2	C	T	2: 31,273,704 (GRCm39)	S1352L	probably damaging	Het
Hoxa5	G	A	6: 52,179,712 (GRCm39)	T221I	probably damaging	Het
Hsd17b2	C	A	8: 118,485,488 (GRCm39)	P317Q	possibly damaging	Het
Ifi213	T	A	1: 173,417,408 (GRCm39)	S335C	probably damaging	Het
Izumo4	A	T	10: 80,539,729 (GRCm39)	D156V	probably damaging	Het
Khnyn	A	T	14: 56,123,309 (GRCm39)	E21V	probably damaging	Het
Kmt2d	C	T	15: 98,759,661 (GRCm39)	G1199E	unknown	Het
Lipk	T	C	19: 34,016,491 (GRCm39)	W240R	probably benign	Het
Lpar5	A	G	6: 125,058,378 (GRCm39)	D33G	possibly damaging	Het
Lrp11	A	G	10: 7,471,961 (GRCm39)	D219G	probably damaging	Het
Lrrcc1	T	C	3: 14,624,285 (GRCm39)		probably benign	Het
Man2a1	T	C	17: 65,047,837 (GRCm39)	C252R	probably damaging	Het
Map2k5	A	G	9: 63,142,585 (GRCm39)	F354L	possibly damaging	Het
Mlh3	T	C	12: 85,312,919 (GRCm39)		probably benign	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myo3a	A	T	2: 22,345,091 (GRCm39)	Y509F	probably damaging	Het
Nckap1	A	G	2: 80,348,242 (GRCm39)	S898P	possibly damaging	Het
Nectin1	T	A	9: 43,702,374 (GRCm39)	Y40*	probably null	Het
Neurl1a	T	A	19: 47,245,898 (GRCm39)	V493E	probably benign	Het
Ntf3	A	C	6: 126,079,209 (GRCm39)	I99S	probably benign	Het
Or10ag53	T	C	2: 87,083,054 (GRCm39)	S258P	possibly damaging	Het
Or1l4	C	G	2: 37,091,992 (GRCm39)	H246Q	probably damaging	Het
Or1p1c	A	G	11: 74,161,066 (GRCm39)	T284A	probably benign	Het
Or2ak5	A	T	11: 58,611,133 (GRCm39)	V247E	probably damaging	Het
Or2i1	A	G	17: 37,507,722 (GRCm39)		probably benign	Het
Or2y1c	T	A	11: 49,361,795 (GRCm39)	F272L	probably benign	Het
Or6k8-ps1	C	T	1: 173,979,780 (GRCm39)	R233C	probably benign	Het
Otof	G	A	5: 30,536,054 (GRCm39)	T1343I	probably benign	Het
Otop2	A	T	11: 115,215,454 (GRCm39)	Y125F	probably benign	Het
Pate3	G	A	9: 35,557,401 (GRCm39)	T85I	probably benign	Het
Pdpk1	A	T	17: 24,317,150 (GRCm39)		probably benign	Het
Phf11d	T	C	14: 59,593,778 (GRCm39)	H132R	probably benign	Het
Pik3c3	G	A	18: 30,477,130 (GRCm39)		probably null	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Prkdc	G	A	16: 15,577,469 (GRCm39)	D2372N	probably damaging	Het
Ptprq	C	T	10: 107,554,339 (GRCm39)	E129K	probably damaging	Het
Pym1	G	A	10: 128,601,913 (GRCm39)		probably benign	Het
Ralgapb	T	A	2: 158,334,372 (GRCm39)	V1027E	probably damaging	Het
Rita1	T	C	5: 120,747,645 (GRCm39)	T218A	possibly damaging	Het
Rrh	T	A	3: 129,606,282 (GRCm39)	T218S	probably damaging	Het
Scaper	C	T	9: 55,767,184 (GRCm39)	A416T	probably damaging	Het
Scn3a	A	G	2: 65,314,716 (GRCm39)	L1115P	probably damaging	Het
Serpinb6e	A	T	13: 34,017,217 (GRCm39)	S268T	probably damaging	Het
Skic3	C	A	13: 76,278,407 (GRCm39)	H574N	probably benign	Het
Slc1a6	G	A	10: 78,648,765 (GRCm39)	W495*	probably null	Het
Slc32a1	A	G	2: 158,453,298 (GRCm39)	H46R	probably benign	Het
Slc37a1	C	T	17: 31,519,405 (GRCm39)		probably benign	Het
Slc6a5	T	A	7: 49,606,173 (GRCm39)	W694R	probably benign	Het
Smarcd2	A	T	11: 106,158,222 (GRCm39)	D113E	probably benign	Het
Sod3	G	T	5: 52,525,504 (GRCm39)	V68L	probably benign	Het
Srpk3	G	A	X: 72,821,561 (GRCm39)	R425Q	possibly damaging	Het
Sspo	A	T	6: 48,469,820 (GRCm39)	Q4506L	possibly damaging	Het
Stam2	T	A	2: 52,606,539 (GRCm39)	E115D	probably damaging	Het
Sult1c2	A	T	17: 54,280,953 (GRCm39)	L50H	probably damaging	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Togaram1	T	G	12: 65,042,409 (GRCm39)	V1156G	probably damaging	Het
Tpp1	T	C	7: 105,398,854 (GRCm39)	T192A	probably benign	Het
Ush1c	A	G	7: 45,859,325 (GRCm39)	L498P	probably damaging	Het
Vit	A	C	17: 78,930,265 (GRCm39)	Q410P	probably benign	Het
Vmn2r27	C	T	6: 124,208,593 (GRCm39)	G51S	probably benign	Het
Zfp341	A	G	2: 154,488,054 (GRCm39)	E839G	possibly damaging	Het
Zhx3	G	A	2: 160,622,275 (GRCm39)	L631F	probably benign	Het
Zmpste24	T	C	4: 120,944,513 (GRCm39)	E95G	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
IGL02559:Mmp28	APN	11	83,338,566 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCCCAGACAAGCGGAAGG -3'
(R):5'- CAGAAGGAAGGGTCTTGACC -3'

Sequencing Primer
(F):5'- CAAGCGGAAGGTAGCATGC -3'
(R):5'- CCCATATGCTCCTACCCATG -3'

Posted On

2014-06-23