Mutagenetix > Incidental Mutation

Incidental Mutation 'R9745:Mmp28'

732067

Institutional Source

Beutler Lab

Gene Symbol

Mmp28

Ensembl Gene

ENSMUSG00000020682

Gene Name

matrix metallopeptidase 28 (epilysin)

Synonyms

epilysin

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9745 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83331594-83353890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83342283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 103 (T103I)

Ref Sequence

ENSEMBL: ENSMUSP00000103772 (fasta)

Gene Model

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

AlphaFold

Q8CGV8

Predicted Effect

probably benign
Transcript: ENSMUST00000021020
AA Change: T103I

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

SMART Domains

Protein: ENSMUSP00000021020
Gene: ENSMUSG00000020682
AA Change: T103I

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: T103I

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

SMART Domains

Protein: ENSMUSP00000099498
Gene: ENSMUSG00000020682
AA Change: T103I

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: T103I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000103772
Gene: ENSMUSG00000020682
AA Change: T103I

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: T103I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000112566
Gene: ENSMUSG00000020682
AA Change: T103I

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 99.1%
20x: 97.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	T	A	10: 126,919,380 (GRCm39)	H488Q	unknown	Het
Ces1b	T	C	8: 93,790,625 (GRCm39)	D388G	probably benign	Het
Ces1f	T	C	8: 93,989,740 (GRCm39)	D392G	probably benign	Het
Ces5a	A	G	8: 94,228,814 (GRCm39)	V472A	probably damaging	Het
Chst1	A	G	2: 92,444,047 (GRCm39)	D173G	possibly damaging	Het
Cngb1	T	G	8: 95,967,919 (GRCm39)	E1294A	unknown	Het
Cnmd	T	C	14: 79,887,850 (GRCm39)	I124V	possibly damaging	Het
Cntnap2	A	T	6: 46,211,100 (GRCm39)	M505L	probably benign	Het
Cntnap4	T	A	8: 113,391,808 (GRCm39)	M91K	possibly damaging	Het
Cstad	A	G	2: 30,498,197 (GRCm39)	T11A	unknown	Het
Cyp2j6	A	T	4: 96,441,621 (GRCm39)	V23E	possibly damaging	Het
Dapk3	C	A	10: 81,028,594 (GRCm39)	T388K	unknown	Het
Dennd6a	G	A	14: 26,320,818 (GRCm39)	G120R	possibly damaging	Het
Disp1	A	C	1: 182,869,310 (GRCm39)	S1037A	probably damaging	Het
Dpcd	A	T	19: 45,560,881 (GRCm39)	Q103L	probably benign	Het
Egfem1	A	T	3: 29,716,532 (GRCm39)	D334V	probably damaging	Het
Egflam	C	T	15: 7,333,419 (GRCm39)	V178M	probably benign	Het
Ehbp1	T	C	11: 22,096,692 (GRCm39)	T291A	probably benign	Het
Eif5b	G	T	1: 38,084,729 (GRCm39)	V859F	probably damaging	Het
Fam161a	A	T	11: 22,973,495 (GRCm39)	Q459L	possibly damaging	Het
Fcgrt	A	C	7: 44,742,754 (GRCm39)	D342E	probably damaging	Het
Fchsd1	A	C	18: 38,102,425 (GRCm39)	D34E	probably benign	Het
Foxo4	G	A	X: 100,301,955 (GRCm39)	S209N	probably benign	Het
Galt	A	T	4: 41,758,185 (GRCm39)	M317L	possibly damaging	Het
Gfm1	A	G	3: 67,358,657 (GRCm39)	D416G	possibly damaging	Het
Glcci1	A	T	6: 8,573,278 (GRCm39)	I256L	probably benign	Het
Ibtk	C	T	9: 85,613,280 (GRCm39)	G228S	probably benign	Het
Ift70b	T	C	2: 75,768,261 (GRCm39)	Y164C	probably benign	Het
Il2rb	T	A	15: 78,372,399 (GRCm39)	D106V	probably benign	Het
Map3k6	A	T	4: 132,979,783 (GRCm39)	I1261F	probably damaging	Het
Mast2	A	G	4: 116,167,815 (GRCm39)	L1014P	probably benign	Het
Mcm2	G	A	6: 88,868,729 (GRCm39)	Q343*	probably null	Het
Megf8	A	G	7: 25,058,133 (GRCm39)	T2136A	possibly damaging	Het
Mtif2	G	A	11: 29,476,587 (GRCm39)		probably benign	Het
Mtus2	A	T	5: 148,013,311 (GRCm39)	T35S	possibly damaging	Het
Ncoa2	A	T	1: 13,245,192 (GRCm39)	I502N	probably benign	Het
Nek5	A	C	8: 22,573,479 (GRCm39)	D492E	probably benign	Het
Nin	T	C	12: 70,089,899 (GRCm39)	E1172G		Het
Nsmaf	T	A	4: 6,416,662 (GRCm39)	I544F	possibly damaging	Het
Oas3	T	C	5: 120,899,284 (GRCm39)	D763G	unknown	Het
Or2a20	G	A	6: 43,194,258 (GRCm39)	W137*	probably null	Het
Or4s2	T	A	2: 88,473,310 (GRCm39)	F66L	probably benign	Het
Or51r1	A	T	7: 102,227,861 (GRCm39)	D53V	probably damaging	Het
Or5al6	C	T	2: 85,976,251 (GRCm39)	V276M	probably damaging	Het
Or5aq1	T	A	2: 86,965,783 (GRCm39)	N294I	probably damaging	Het
Or5k15	A	T	16: 58,710,265 (GRCm39)	L106Q	probably damaging	Het
Or5t17	T	C	2: 86,832,487 (GRCm39)	V58A	probably benign	Het
Pcdh7	T	C	5: 57,879,622 (GRCm39)		probably null	Het
Pitx3	A	G	19: 46,124,660 (GRCm39)	S236P	possibly damaging	Het
Plscr5	T	A	9: 92,087,502 (GRCm39)	I157N	probably damaging	Het
Potefam1	T	C	2: 111,000,008 (GRCm39)	M201V	unknown	Het
Preb	T	C	5: 31,116,732 (GRCm39)	N54D	probably benign	Het
Pskh1	C	T	8: 106,656,404 (GRCm39)	A360V	possibly damaging	Het
Ptprk	T	C	10: 28,139,608 (GRCm39)	L111S	possibly damaging	Het
Reln	T	A	5: 22,152,525 (GRCm39)	I2314F	probably damaging	Het
Siglecg	A	G	7: 43,067,476 (GRCm39)	D681G	probably damaging	Het
Snx5	A	G	2: 144,096,716 (GRCm39)	V283A	probably benign	Het
Srpk2	C	A	5: 23,880,874 (GRCm39)		probably benign	Het
Tacr1	T	C	6: 82,469,619 (GRCm39)	Y168H	possibly damaging	Het
Tal1	G	T	4: 114,920,557 (GRCm39)	R77L	probably benign	Het
Tdrd12	T	C	7: 35,185,964 (GRCm39)		probably null	Het
Tdrd7	A	T	4: 45,994,310 (GRCm39)	N236I	possibly damaging	Het
Tdrd9	T	C	12: 112,009,130 (GRCm39)	F1012S	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tert	T	A	13: 73,784,609 (GRCm39)	L685Q	probably damaging	Het
Th	T	G	7: 142,448,851 (GRCm39)	D342A	probably damaging	Het
Tpsg1	G	T	17: 25,591,492 (GRCm39)	V31L	probably damaging	Het
Traf3ip1	C	G	1: 91,439,095 (GRCm39)	S337*	probably null	Het
Trpv6	A	G	6: 41,600,003 (GRCm39)	F551S	probably damaging	Het
Urah	A	G	7: 140,415,531 (GRCm39)	N23D	probably benign	Het
Vangl1	A	C	3: 102,072,669 (GRCm39)		probably null	Het
Zc3h6	A	G	2: 128,859,155 (GRCm39)	E1062G	probably benign	Het
Zfp37	A	T	4: 62,110,644 (GRCm39)	V181E	possibly damaging	Het
Zfp638	T	A	6: 83,921,795 (GRCm39)	S641T	probably benign	Het
Zkscan16	A	T	4: 58,957,473 (GRCm39)	H585L	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
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

Predicted Primers

PCR Primer
(F):5'- AATCTGCTCCCAGGGAAGAGAC -3'
(R):5'- TTCAGGAACGCCATCAGGTATG -3'

Sequencing Primer
(F):5'- GAGACGCTTCTCTGTCTCAG -3'
(R):5'- GGGTGCAAGATACGAGCTCC -3'

Posted On

2022-11-14