Mutagenetix > Incidental Mutation

Incidental Mutation 'R5216:Mmp14'

403496

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

042789-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.913) question?

Stock #

R5216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54431612-54445364 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54437663 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 251 (N251D)

Ref Sequence

ENSEMBL: ENSMUSP00000153679 (fasta)

Gene Model

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

AlphaFold

P53690

Predicted Effect

probably benign
Transcript: ENSMUST00000089688
AA Change: N251D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000087119
Gene: ENSMUSG00000000957
AA Change: N251D

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

noncoding transcript
Transcript: ENSMUST00000197947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198679

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225641
AA Change: N251D

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226710

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

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. 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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,061,162	V84D	probably damaging	Het
Abcb1b	T	C	5: 8,813,705	V220A	probably benign	Het
Actg1	A	T	11: 120,347,754	M82K	probably damaging	Het
Ahi1	T	C	10: 20,960,076	S103P	probably benign	Het
Aldh1b1	G	T	4: 45,803,652	G397C	probably damaging	Het
Arhgef3	A	G	14: 27,401,842	T507A	probably benign	Het
Atg7	A	G	6: 114,724,949	D682G	probably damaging	Het
Atp13a3	A	G	16: 30,340,284	I783T	probably damaging	Het
Atp9a	T	C	2: 168,674,888	I362V	probably benign	Het
BC067074	G	A	13: 113,342,413	C1497Y	probably benign	Het
Birc6	T	A	17: 74,613,470	I168K	probably damaging	Het
Brca2	T	A	5: 150,542,980	Y2070N	probably damaging	Het
Cabp7	A	G	11: 4,738,873	I199T	probably damaging	Het
Cacng5	A	G	11: 107,877,489	F231L	possibly damaging	Het
Cngb3	T	A	4: 19,415,729	V413D	possibly damaging	Het
Col24a1	G	A	3: 145,315,310	E481K	possibly damaging	Het
Ctr9	T	A	7: 111,045,458	I560N	possibly damaging	Het
Dip2b	C	T	15: 100,211,986	R1451C	probably damaging	Het
Fat3	T	C	9: 16,377,537	D230G	probably damaging	Het
Gramd4	G	A	15: 86,134,785		probably null	Het
Grb14	C	T	2: 64,917,309	V369I	probably benign	Het
Hoxd1	A	T	2: 74,764,351	N317Y	probably damaging	Het
Kcnc4	A	G	3: 107,439,441	S623P	probably benign	Het
Klhl20	A	G	1: 161,093,679		probably null	Het
Lamc1	C	A	1: 153,227,696	V1375L	probably damaging	Het
Lpin2	C	T	17: 71,242,760	S640L	probably damaging	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,327,311		probably benign	Het
Mgll	T	A	6: 88,766,329	C110*	probably null	Het
Olfr393	A	T	11: 73,847,436	S230T	probably damaging	Het
Olfr552	A	G	7: 102,604,821	T156A	probably benign	Het
Olfr857	T	A	9: 19,713,289	V154E	probably benign	Het
Pfkl	T	G	10: 78,009,670	D5A	probably damaging	Het
Pik3c3	A	G	18: 30,272,976	Y9C	probably damaging	Het
Pkhd1l1	T	A	15: 44,495,647	Y417*	probably null	Het
Rptor	G	A	11: 119,843,713	G514D	probably damaging	Het
Sulf1	T	A	1: 12,796,874	M94K	probably benign	Het
Synrg	A	G	11: 83,982,196	T157A	probably damaging	Het
Syt1	T	C	10: 108,642,257	N102S	probably benign	Het
Tnip2	C	T	5: 34,503,805	R101H	probably damaging	Het
Trmt2a	A	G	16: 18,252,184	D421G	probably benign	Het
Vmn1r67	A	G	7: 10,447,163	D57G	probably benign	Het
Wnt2b	A	G	3: 104,961,345	L43P	possibly damaging	Het
Zfp113	C	T	5: 138,150,715	D56N	probably damaging	Het
Zfp184	C	T	13: 21,950,236	L69F	probably damaging	Het
Zyx	T	C	6: 42,356,532	V464A	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
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
R7555:Mmp14	UTSW	14	54437742	missense	possibly damaging	0.96
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'- CTTCCTGAACCAAATAGGAAGCTG -3'
(R):5'- AGACTTCACACATGATGGAGGG -3'

Sequencing Primer
(F):5'- GGAAGCTGACCCTCAGGACTTTATC -3'
(R):5'- CTTCACACATGATGGAGGGAAAATGC -3'

Posted On

2016-07-22