Mutagenetix > Incidental Mutations

Incidental Mutation 'R4905:Mmp25'

378141

Institutional Source

Beutler Lab

Gene Symbol

Mmp25

Ensembl Gene

ENSMUSG00000023903

Gene Name

matrix metallopeptidase 25

Synonyms

Leukolysin, MT6-MMP, F730048C11Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R4905 (G1)

Quality Score

187

Status

Not validated

Chromosome

Chromosomal Location

23629458-23645269 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 23644048 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 130 (G130*)

Ref Sequence

ENSEMBL: ENSMUSP00000024696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024696]

Predicted Effect

probably null
Transcript: ENSMUST00000024696
AA Change: G130*

SMART Domains

Protein: ENSMUSP00000024696
Gene: ENSMUSG00000023903
AA Change: G130*

Domain	Start	End	E-Value	Type
low complexity region	54	75	N/A	INTRINSIC
Pfam:PG_binding_1	82	140	8.8e-12	PFAM
ZnMc	166	335	1.68e-47	SMART
low complexity region	343	369	N/A	INTRINSIC
HX	375	419	6.35e-8	SMART
HX	424	466	1.62e-5	SMART
HX	470	516	1.64e-10	SMART
HX	518	562	2.79e-4	SMART
low complexity region	572	581	N/A	INTRINSIC
low complexity region	597	607	N/A	INTRINSIC

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

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 precursor undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,612,818		probably null	Het
1700123L14Rik	T	A	6: 96,165,930	R44S	possibly damaging	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
9530053A07Rik	A	T	7: 28,156,983	K2065M	possibly damaging	Het
Abcc5	A	G	16: 20,399,928	S235P	probably damaging	Het
Abcc6	T	C	7: 45,995,225	N842S	probably benign	Het
Acbd6	G	A	1: 155,624,923	V210I	probably benign	Het
Ahctf1	A	T	1: 179,748,627	V2130D	probably damaging	Het
Akap5	A	G	12: 76,328,433	E213G	probably damaging	Het
Alyref	T	G	11: 120,596,053		probably null	Het
Anapc5	G	T	5: 122,817,910	N152K	probably benign	Het
Atp8b2	A	T	3: 89,949,008	D416E	probably benign	Het
AW551984	A	T	9: 39,597,158	V354E	probably damaging	Het
Bag6	A	G	17: 35,145,186	E844G	probably damaging	Het
Bmp1	C	T	14: 70,491,362	R590H	probably benign	Het
Ccnh	T	C	13: 85,206,135	S233P	possibly damaging	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,481,861		probably benign	Het
Col6a6	A	G	9: 105,767,424	S1222P	probably damaging	Het
Dhfr	G	A	13: 92,365,774	G118S	probably damaging	Het
Dnah9	G	A	11: 65,874,124	R1414*	probably null	Het
Dnaic1	A	G	4: 41,614,269	D315G	probably benign	Het
Eogt	T	C	6: 97,142,831	R139G	probably benign	Het
Fh1	C	T	1: 175,619,073	G79E	probably damaging	Het
Gabrg3	A	G	7: 56,724,556	Y421H	probably damaging	Het
Glipr1	C	A	10: 111,985,640	R219L	probably damaging	Het
Gm1123	T	C	9: 99,009,316	D360G	probably benign	Het
Ift81	C	T	5: 122,591,079		probably null	Het
Itsn2	A	G	12: 4,634,583		probably benign	Het
Kri1	A	T	9: 21,287,702	H55Q	probably benign	Het
Mcidas	C	A	13: 112,994,417	A92E	possibly damaging	Het
Mcidas	C	T	13: 112,997,504	T174M	possibly damaging	Het
Myh11	G	A	16: 14,250,523	T211M	probably benign	Het
Myo10	A	G	15: 25,800,212	D1458G	probably damaging	Het
Ncf4	A	G	15: 78,254,904	T154A	probably damaging	Het
Nfatc4	T	C	14: 55,830,582	I620T	probably benign	Het
Nos3	A	T	5: 24,367,331	Y134F	probably benign	Het
Olfr1459	C	A	19: 13,146,177	A161S	probably benign	Het
Olfr273	T	C	4: 52,855,613	N300S	probably damaging	Het
Olfr575	A	T	7: 102,955,514	I36N	probably damaging	Het
Olfr799	T	A	10: 129,647,923	V265E	possibly damaging	Het
Pax9	G	T	12: 56,696,626	R19S	probably damaging	Het
Pcdha9	T	C	18: 36,998,892	I338T	probably damaging	Het
Plxnb2	G	T	15: 89,157,411	T1730K	probably damaging	Het
Rac1	A	G	5: 143,517,152		probably null	Het
Samsn1	G	T	16: 75,876,465	F174L	possibly damaging	Het
Scaf1	G	A	7: 45,012,705	T86M	probably damaging	Het
Smc1b	A	G	15: 85,066,227	Y1199H	probably damaging	Het
Svep1	A	G	4: 58,069,308	I2826T	probably benign	Het
Tex36	A	G	7: 133,587,453	V130A	probably damaging	Het
Tigd5	A	G	15: 75,911,403	H538R	probably damaging	Het
Tlr3	C	A	8: 45,399,223		probably null	Het
Tubb2b	A	T	13: 34,128,204	I202N	probably damaging	Het
Unc13c	A	G	9: 73,680,392	V1453A	probably benign	Het
Unc5c	A	T	3: 141,801,310	T608S	probably benign	Het
Vrk1	C	A	12: 106,051,828	H119N	probably damaging	Het
Wdr53	T	A	16: 32,256,658	M227K	probably benign	Het
Xpo4	T	C	14: 57,638,289	D129G	possibly damaging	Het
Zcchc4	T	C	5: 52,796,650	I224T	probably damaging	Het
Zdhhc1	T	A	8: 105,483,694	E30D	probably damaging	Het
Zscan29	C	G	2: 121,161,383	R540T	possibly damaging	Het

Other mutations in Mmp25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02814:Mmp25	APN	17	23639762	missense	probably damaging	1.00
IGL02893:Mmp25	APN	17	23644051	missense	probably damaging	1.00
R0471:Mmp25	UTSW	17	23639884	missense	possibly damaging	0.73
R0478:Mmp25	UTSW	17	23632782	missense	probably benign	0.08
R1829:Mmp25	UTSW	17	23640023	missense	probably benign	0.00
R2005:Mmp25	UTSW	17	23640242	missense	probably damaging	1.00
R2151:Mmp25	UTSW	17	23631074	missense	probably damaging	1.00
R2153:Mmp25	UTSW	17	23631074	missense	probably damaging	1.00
R2154:Mmp25	UTSW	17	23631074	missense	probably damaging	1.00
R2937:Mmp25	UTSW	17	23644791	missense	probably benign	0.00
R4418:Mmp25	UTSW	17	23644070	missense	probably damaging	1.00
R4667:Mmp25	UTSW	17	23644607	missense	probably benign	0.00
R5535:Mmp25	UTSW	17	23644760	missense	probably benign
R5592:Mmp25	UTSW	17	23640202	missense	possibly damaging	0.95
R5888:Mmp25	UTSW	17	23631074	missense	probably damaging	1.00
R6261:Mmp25	UTSW	17	23630794	missense	possibly damaging	0.61
R6263:Mmp25	UTSW	17	23630794	missense	possibly damaging	0.61
R6264:Mmp25	UTSW	17	23630794	missense	possibly damaging	0.61
R6571:Mmp25	UTSW	17	23639896	missense	probably benign	0.17
R7172:Mmp25	UTSW	17	23644788	missense	probably benign
R7467:Mmp25	UTSW	17	23644782	missense	possibly damaging	0.53
R8109:Mmp25	UTSW	17	23644794	missense	probably benign	0.00
T0722:Mmp25	UTSW	17	23631218	missense	possibly damaging	0.94
Z1176:Mmp25	UTSW	17	23630659	missense	probably damaging	1.00
Z1177:Mmp25	UTSW	17	23644137	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- CGGTTTAAAGACTCCGAGCC -3'
(R):5'- GGAAAGCCCCATCCTTTTAGAG -3'

Sequencing Primer
(F):5'- GTTTAAAGACTCCGAGCCATGCTG -3'
(R):5'- AGAGTTTCATCAATCCTATCCTGTG -3'

Posted On

2016-04-15