Mutagenetix > Incidental Mutation

Incidental Mutation 'R7555:Mmp14'

584726

Institutional Source

Beutler Lab

Gene Symbol

Mmp14

Ensembl Gene

ENSMUSG00000000957

Gene Name

matrix metallopeptidase 14 (membrane-inserted)

Synonyms

sabe, Membrane type 1-MMP, MT1-MMP

MMRRC Submission

045623-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R7555 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54431612-54445364 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 54437742 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 277 (R277L)

Ref Sequence

ENSEMBL: ENSMUSP00000087119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089688] [ENSMUST00000196155] [ENSMUST00000197874] [ENSMUST00000225641]

AlphaFold

P53690

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089688
AA Change: R277L

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087119
Gene: ENSMUSG00000000957
AA Change: R277L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:PG_binding_1	36	88	2.1e-12	PFAM
ZnMc	115	285	6.01e-58	SMART
HX	323	366	3.97e-9	SMART
HX	368	412	1.42e-10	SMART
HX	415	461	4.45e-12	SMART
HX	463	508	1.61e-9	SMART
Pfam:DUF3377	512	582	2.2e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196155

Predicted Effect

probably benign
Transcript: ENSMUST00000197874

Predicted Effect

probably damaging
Transcript: ENSMUST00000225641
AA Change: R277L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

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

Validation Efficiency

100% (83/83)

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. Mice lacking the encoded protein exhibit craniofacial dysmorphism, arthritis, osteopenia, dwarfism, and fibrosis of soft tissues. [provided by RefSeq, Feb 2016]
PHENOTYPE: Nullizygous mutations may lead to postnatal or premature death, craniofacial anomalies, skeletal dysplasia, low body weight, reduced bone formation and chondrocyte proliferation, arthritis, and fibrosis as well as defects in angiogenesis and lung, tooth,kidney, and submaxillary gland development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	T	A	4: 144,522,354	I97N	probably damaging	Het
Acvrl1	A	G	15: 101,143,473	H502R	probably benign	Het
Adgrf4	T	C	17: 42,672,603	S63G	probably benign	Het
Agbl2	C	A	2: 90,791,555	L129I	probably damaging	Het
Ankrd11	C	A	8: 122,887,406	A2542S	probably damaging	Het
Armc9	A	G	1: 86,275,678	K818R	probably damaging	Het
Arsj	T	A	3: 126,438,236	C210*	probably null	Het
Aspscr1	C	T	11: 120,673,100	A11V	unknown	Het
Bicc1	G	T	10: 70,956,291	Q296K	possibly damaging	Het
Borcs5	A	C	6: 134,685,979	Q73P	probably benign	Het
Capn15	G	T	17: 25,963,432	D567E	probably damaging	Het
Catsperg1	A	C	7: 29,189,814	I866S	probably damaging	Het
Ccdc27	G	T	4: 154,041,817	H72N	unknown	Het
Ccser2	A	T	14: 36,879,500	M309K	possibly damaging	Het
Cd1d2	A	G	3: 86,987,101	S59G	probably benign	Het
Chml	G	A	1: 175,687,890	P155L	probably benign	Het
Csmd2	C	T	4: 128,452,458	P1504S		Het
Dcbld2	A	G	16: 58,448,718		probably null	Het
Ddx21	C	T	10: 62,598,243	E246K	probably benign	Het
Dhx29	C	T	13: 112,927,642		probably benign	Het
Dis3l	A	C	9: 64,311,937	Y570*	probably null	Het
Dnah14	T	A	1: 181,770,054	Y3623N	probably benign	Het
Dock8	A	G	19: 25,175,400	D1610G	probably damaging	Het
Dync1h1	T	C	12: 110,630,625	S1669P	probably benign	Het
Eif2ak4	T	A	2: 118,417,283	I267N	possibly damaging	Het
Ern2	A	T	7: 122,170,241	V854E	probably damaging	Het
Fuca2	G	A	10: 13,507,430		probably null	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Gm1110	T	A	9: 26,893,628	T380S	probably benign	Het
Gm13128	T	C	4: 144,332,741	F341L	probably benign	Het
Gm5788	A	C	12: 87,494,735	K5N	unknown	Het
Gm6460	A	T	5: 11,597,612	N106Y	probably damaging	Het
Golga2	G	A	2: 32,288,166	R29H	probably benign	Het
Grik5	T	C	7: 25,060,597	E259G	probably benign	Het
Grm3	T	C	5: 9,570,000	T415A	probably benign	Het
Gtf3c1	A	G	7: 125,645,670	Y1731H	probably damaging	Het
Hectd2	T	C	19: 36,612,403	C643R	probably damaging	Het
Hgfac	T	C	5: 35,042,628	S118P	probably damaging	Het
Hmcn1	A	G	1: 150,604,874	V4517A	probably benign	Het
Hnrnpc	A	T	14: 52,075,153	L290*	probably null	Het
Homer3	A	G	8: 70,289,413	E108G	probably damaging	Het
Hsd17b3	G	T	13: 64,072,002	S141R	probably benign	Het
Hspa12b	C	T	2: 131,138,476	T105I	probably damaging	Het
Ifi202b	T	C	1: 173,972,221	I231M	probably damaging	Het
Inhba	T	A	13: 16,017,637	N114K	probably benign	Het
Kmt2b	C	A	7: 30,569,410	M2631I	possibly damaging	Het
Loxhd1	C	T	18: 77,395,365	T1214I	probably damaging	Het
Lrp1	G	T	10: 127,546,862	N3683K	probably damaging	Het
Lrrc8e	A	G	8: 4,234,363	K196R	probably benign	Het
Lrrn3	A	T	12: 41,452,911	M469K	probably benign	Het
Mafb	T	C	2: 160,365,829	E283G	probably damaging	Het
Mapt	C	A	11: 104,298,702	P182Q	probably benign	Het
Mucl2	T	A	15: 103,897,445	N82I	probably benign	Het
Nsun6	T	A	2: 14,996,339	T469S	possibly damaging	Het
Olfr1076	A	C	2: 86,509,347	D296A	probably damaging	Het
Olfr1342	T	C	4: 118,689,642	D270G	possibly damaging	Het
Olfr507	G	C	7: 108,622,726	A305P	probably damaging	Het
Osbpl5	A	T	7: 143,694,933	F631I	possibly damaging	Het
Otud3	G	T	4: 138,901,885	D190E	possibly damaging	Het
Pcdhb6	A	T	18: 37,335,279	I418F	possibly damaging	Het
Per1	G	A	11: 69,106,513	R838H	probably damaging	Het
Per2	G	A	1: 91,435,135	P395S	probably damaging	Het
Per3	G	A	4: 151,018,058	Q583*	probably null	Het
Pkhd1l1	A	T	15: 44,550,761	H2808L	possibly damaging	Het
Ppfia2	A	G	10: 106,927,826	T1227A	probably benign	Het
Psg17	C	T	7: 18,817,094	D279N	probably benign	Het
Rnf167	A	G	11: 70,650,797	D235G	probably benign	Het
Rxfp3	A	G	15: 11,036,276	S337P	probably damaging	Het
Sall1	T	C	8: 89,033,158	D106G	possibly damaging	Het
Sema4f	A	G	6: 82,914,056	V590A	probably benign	Het
Setd1b	A	G	5: 123,157,757	D1102G	unknown	Het
Six2	C	A	17: 85,687,707	K82N	probably damaging	Het
Snx29	T	C	16: 11,400,942	M214T	probably benign	Het
Son	T	C	16: 91,658,922	L1519P	probably damaging	Het
Spin1	C	T	13: 51,149,049	S226L	probably benign	Het
Stxbp5l	T	C	16: 37,323,603	D131G	probably damaging	Het
Svep1	T	C	4: 58,069,422	Y2788C	probably damaging	Het
Tbl3	C	A	17: 24,701,976		probably null	Het
Themis	A	T	10: 28,781,702	I242L	possibly damaging	Het
Tmem203	G	A	2: 25,255,730	V21M	probably benign	Het
Trp53inp1	T	C	4: 11,169,750	C171R	probably benign	Het
Tsg101	A	G	7: 46,913,411	Y32H	probably damaging	Het
Tyw1	A	G	5: 130,274,706	D305G	probably damaging	Het
Vmn1r40	A	T	6: 89,715,044	Y281F	probably damaging	Het
Vmn2r105	T	A	17: 20,227,675	T296S	probably damaging	Het
Vmn2r13	T	C	5: 109,171,691		probably null	Het
Zfp933	A	G	4: 147,826,132	F336L	probably damaging	Het

Other mutations in Mmp14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Mmp14	APN	14	54435790	missense	possibly damaging	0.60
IGL01937:Mmp14	APN	14	54437596	splice site	probably benign
IGL02565:Mmp14	APN	14	54440557	missense	probably benign	0.02
Buffo	UTSW	14	54437658	missense	probably damaging	1.00
cartoon	UTSW	14	54439999	missense	probably damaging	0.96
Cartoonish	UTSW	14	54436775	missense	probably damaging	1.00
mumping	UTSW	14	54439412	missense	probably damaging	1.00
IGL03134:Mmp14	UTSW	14	54439106	missense	probably damaging	1.00
R0053:Mmp14	UTSW	14	54438652	splice site	probably benign
R0053:Mmp14	UTSW	14	54438652	splice site	probably benign
R0538:Mmp14	UTSW	14	54438709	missense	possibly damaging	0.47
R0612:Mmp14	UTSW	14	54440434	missense	probably damaging	1.00
R2352:Mmp14	UTSW	14	54440545	missense	probably benign	0.30
R3700:Mmp14	UTSW	14	54431932	unclassified	probably benign
R4289:Mmp14	UTSW	14	54436208	nonsense	probably null
R4888:Mmp14	UTSW	14	54436205	missense	probably damaging	0.98
R5068:Mmp14	UTSW	14	54439113	missense	probably damaging	1.00
R5069:Mmp14	UTSW	14	54439113	missense	probably damaging	1.00
R5070:Mmp14	UTSW	14	54439113	missense	probably damaging	1.00
R5216:Mmp14	UTSW	14	54437663	missense	possibly damaging	0.82
R5607:Mmp14	UTSW	14	54439412	missense	probably damaging	1.00
R6053:Mmp14	UTSW	14	54435890	missense	probably benign	0.39
R6477:Mmp14	UTSW	14	54437658	missense	probably damaging	1.00
R7153:Mmp14	UTSW	14	54436251	missense	possibly damaging	0.93
R7212:Mmp14	UTSW	14	54435879	missense	probably damaging	1.00
R7957:Mmp14	UTSW	14	54436250	missense	probably benign	0.01
R8263:Mmp14	UTSW	14	54435787	missense	probably damaging	1.00
R8409:Mmp14	UTSW	14	54440668	missense	probably damaging	1.00
R8785:Mmp14	UTSW	14	54436775	missense	probably damaging	1.00
R9021:Mmp14	UTSW	14	54436175	missense	probably benign	0.00
R9325:Mmp14	UTSW	14	54438791	missense	probably damaging	1.00
R9367:Mmp14	UTSW	14	54440503	missense	probably benign	0.17
R9425:Mmp14	UTSW	14	54440347	missense	probably damaging	0.99
R9544:Mmp14	UTSW	14	54435794	missense	possibly damaging	0.85
R9583:Mmp14	UTSW	14	54440612	missense	probably benign	0.24
RF003:Mmp14	UTSW	14	54439014	nonsense	probably null
X0064:Mmp14	UTSW	14	54431946	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GGACTTTATCCCTTGAGGTGGA -3'
(R):5'- AAGTGGTAGCTAATAGAGGCAAT -3'

Sequencing Primer
(F):5'- CAGCAAGCTTCTCTGTGAAACTGG -3'
(R):5'- GCAATGAAAAGTGGTGTGTGTG -3'

Posted On

2019-10-17