Mutagenetix > Incidental Mutation

Incidental Mutation 'R7676:Mmp10'

592457

Institutional Source

Beutler Lab

Gene Symbol

Mmp10

Ensembl Gene

ENSMUSG00000047562

Gene Name

matrix metallopeptidase 10

Synonyms

stromelysin 2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R7676 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7502352-7510240 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7503549 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 140 (V140D)

Ref Sequence

ENSEMBL: ENSMUSP00000034488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034488]

AlphaFold

O55123

Predicted Effect

probably damaging
Transcript: ENSMUST00000034488
AA Change: V140D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034488
Gene: ENSMUSG00000047562
AA Change: V140D

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:PG_binding_1	27	87	3.2e-12	PFAM
ZnMc	105	265	1.81e-61	SMART
HX	295	337	2.03e-6	SMART
HX	339	382	9.11e-9	SMART
HX	387	434	8.49e-18	SMART
HX	436	476	3.88e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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. The lack of encoded protein in mice promotes experimental lung cancer formation, exacerbates experimental colitis and promotes development of inflammation-associated colonic dysplasia. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,294,987	D116G	possibly damaging	Het
Adam6a	G	A	12: 113,544,576	G190S	probably benign	Het
Adnp	G	A	2: 168,183,447	R643*	probably null	Het
Akap6	A	G	12: 52,886,850	D375G	possibly damaging	Het
Aldh1l2	G	T	10: 83,508,111	A480E	probably benign	Het
Ccdc175	T	A	12: 72,102,047	Q779L	possibly damaging	Het
D430042O09Rik	A	G	7: 125,850,377	D897G	probably benign	Het
Dnah7b	T	G	1: 46,234,164	L2484*	probably null	Het
Dnajc21	T	C	15: 10,462,344	Y65C	possibly damaging	Het
Dnhd1	C	A	7: 105,684,087	N255K	probably benign	Het
Efhc1	G	T	1: 20,967,369	G257W	probably damaging	Het
Fars2	C	A	13: 36,205,043	L172I	probably benign	Het
Fat4	T	C	3: 38,891,697	Y1580H	probably damaging	Het
Fli1	T	A	9: 32,428,030	N253Y	probably benign	Het
Foxd3	G	T	4: 99,656,914	C97F	probably damaging	Het
Gem	C	A	4: 11,711,170	D120E	possibly damaging	Het
Ighv10-3	A	G	12: 114,523,679	C41R	probably damaging	Het
Kcnab3	A	G	11: 69,326,727	S16G	probably benign	Het
Keg1	T	G	19: 12,716,045	V154G	probably benign	Het
Lrrc45	G	A	11: 120,720,322	R602H	probably damaging	Het
Ltbp1	A	G	17: 75,291,297	D591G	possibly damaging	Het
Nat8f2	A	T	6: 85,868,212	M56K	probably benign	Het
Nckipsd	T	C	9: 108,814,954	F525L	probably damaging	Het
Olfr1328	A	G	4: 118,934,150	S233P	probably damaging	Het
Olfr1406	T	A	1: 173,183,553	K294*	probably null	Het
Olfr804	G	T	10: 129,705,286	S136I	possibly damaging	Het
P2ry12	T	A	3: 59,217,757	M166L	possibly damaging	Het
Palm3	T	C	8: 84,029,445	S529P	possibly damaging	Het
Pdilt	A	T	7: 119,494,997	Y344N	probably damaging	Het
Pip4k2b	A	T	11: 97,720,362	N309K	probably benign	Het
Pkd1l1	C	T	11: 8,962,708	V166I		Het
Plxdc2	C	T	2: 16,712,083	S377L	probably benign	Het
Rc3h2	A	T	2: 37,405,332	V224E	possibly damaging	Het
Stk32c	T	A	7: 139,105,304	D428V	possibly damaging	Het
Ttn	T	C	2: 76,814,607	D12968G	probably damaging	Het
Tulp2	G	T	7: 45,521,027	V457F	possibly damaging	Het
Vcan	A	T	13: 89,691,789	S1879T	probably damaging	Het
Vmn1r51	T	C	6: 90,129,455	Y118H	probably benign	Het
Zfat	A	C	15: 68,224,844	V40G	possibly damaging	Het

Other mutations in Mmp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Mmp10	APN	9	7505650	missense	possibly damaging	0.77
Disco	UTSW	9	7504169	nonsense	probably null
steel	UTSW	9	7506512	missense	probably benign	0.01
Strobe	UTSW	9	7508198	missense	probably benign
R0240:Mmp10	UTSW	9	7506543	missense	probably damaging	1.00
R0240:Mmp10	UTSW	9	7506543	missense	probably damaging	1.00
R0503:Mmp10	UTSW	9	7507339	missense	probably damaging	1.00
R0595:Mmp10	UTSW	9	7508198	missense	probably benign
R1222:Mmp10	UTSW	9	7505681	splice site	probably benign
R1487:Mmp10	UTSW	9	7509977	missense	probably damaging	0.98
R1622:Mmp10	UTSW	9	7504995	nonsense	probably null
R1669:Mmp10	UTSW	9	7505525	critical splice acceptor site	probably null
R1806:Mmp10	UTSW	9	7506501	missense	probably benign	0.01
R1880:Mmp10	UTSW	9	7505574	missense	probably benign	0.00
R4749:Mmp10	UTSW	9	7508168	missense	probably damaging	1.00
R4866:Mmp10	UTSW	9	7508189	missense	probably damaging	1.00
R5231:Mmp10	UTSW	9	7502500	critical splice donor site	probably null
R5367:Mmp10	UTSW	9	7505602	missense	probably damaging	1.00
R5814:Mmp10	UTSW	9	7503620	missense	possibly damaging	0.91
R6131:Mmp10	UTSW	9	7503632	splice site	probably null
R6542:Mmp10	UTSW	9	7506512	missense	probably benign	0.01
R6997:Mmp10	UTSW	9	7503530	missense	probably benign	0.08
R7400:Mmp10	UTSW	9	7503300	missense	probably damaging	1.00
R7513:Mmp10	UTSW	9	7508127	missense	probably damaging	1.00
R7593:Mmp10	UTSW	9	7503153	missense	probably damaging	1.00
R7830:Mmp10	UTSW	9	7507283	missense	probably benign	0.00
R7967:Mmp10	UTSW	9	7504115	missense	probably damaging	1.00
R8353:Mmp10	UTSW	9	7508202	missense	probably damaging	1.00
R8453:Mmp10	UTSW	9	7508202	missense	probably damaging	1.00
R8728:Mmp10	UTSW	9	7502479	missense	probably benign
R8788:Mmp10	UTSW	9	7502686	intron	probably benign
R9023:Mmp10	UTSW	9	7504912	missense	probably damaging	1.00
R9386:Mmp10	UTSW	9	7503387	missense	probably damaging	1.00
R9388:Mmp10	UTSW	9	7504169	nonsense	probably null
R9414:Mmp10	UTSW	9	7502488	missense	probably benign	0.16
Z1176:Mmp10	UTSW	9	7508205	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGTGGCTTCAGTACCTTCC -3'
(R):5'- CAGGAAGTCTGAGTGATACCTTTG -3'

Sequencing Primer
(F):5'- TTCCCAGGTTCGCCAAAATGG -3'
(R):5'- TGTGTTGTTTACAGATCTTCCAATG -3'

Posted On

2019-11-12