Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Mmp14'

388575

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

042659-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54669055-54679913 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54676570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 372 (Y372N)

Ref Sequence

ENSEMBL: ENSMUSP00000153679 (fasta)

Gene Model

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

AlphaFold

P53690

Predicted Effect

probably damaging
Transcript: ENSMUST00000089688
AA Change: Y372N

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

SMART Domains

Protein: ENSMUSP00000087119
Gene: ENSMUSG00000000957
AA Change: Y372N

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

probably damaging
Transcript: ENSMUST00000225641
AA Change: Y372N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226710

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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 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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
AAdacl4fm3	T	A	4: 144,430,437 (GRCm39)	D184V	probably damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Adcy7	T	C	8: 89,054,325 (GRCm39)	L1060P	probably damaging	Het
Aff3	A	G	1: 38,220,694 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd27	A	T	7: 35,327,860 (GRCm39)	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,211,714 (GRCm39)	T90A	probably damaging	Het
Armc9	A	T	1: 86,184,959 (GRCm39)	H670L	probably benign	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Ass1	C	T	2: 31,400,185 (GRCm39)	T301M	probably damaging	Het
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cdh3	A	G	8: 107,263,458 (GRCm39)	N126S	probably benign	Het
Cfap54	A	C	10: 92,773,636 (GRCm39)	F135L	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Elapor2	T	A	5: 9,490,897 (GRCm39)	C636S	probably damaging	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Firrm	T	C	1: 163,815,243 (GRCm39)	T93A	possibly damaging	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gm1043	T	G	5: 37,344,580 (GRCm39)	L231R	probably damaging	Het
Gpr153	T	A	4: 152,364,340 (GRCm39)	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,230,546 (GRCm39)	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,278,451 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,393,149 (GRCm39)	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Krt75	A	G	15: 101,474,673 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,980 (GRCm39)	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Muc6	A	G	7: 141,237,564 (GRCm39)	C218R	probably damaging	Het
Myof	A	T	19: 37,893,773 (GRCm39)	I1130N	possibly damaging	Het
Neil3	A	G	8: 54,054,076 (GRCm39)	S318P	possibly damaging	Het
Nhlh1	A	G	1: 171,881,467 (GRCm39)	V133A	probably benign	Het
Nup153	A	C	13: 46,863,268 (GRCm39)	S331A	probably benign	Het
Nup98	T	C	7: 101,794,862 (GRCm39)	T882A	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or9s23	T	A	1: 92,501,135 (GRCm39)	S81T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pald1	A	T	10: 61,177,025 (GRCm39)	M675K	possibly damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,161,140 (GRCm39)	A897V	probably benign	Het
Plxnd1	A	T	6: 115,942,862 (GRCm39)	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,627,561 (GRCm39)		probably null	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rhbdl2	T	A	4: 123,711,710 (GRCm39)	L149*	probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rtel1	G	A	2: 180,997,285 (GRCm39)	V1042M	probably benign	Het
Sidt2	A	T	9: 45,850,759 (GRCm39)		probably null	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc28a2b	A	T	2: 122,324,854 (GRCm39)	N142I	possibly damaging	Het
Slc4a10	G	A	2: 62,097,915 (GRCm39)	R508H	probably benign	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Slf2	T	A	19: 44,923,692 (GRCm39)	S169T	possibly damaging	Het
Snx33	A	T	9: 56,833,475 (GRCm39)	I198N	probably damaging	Het
Spock3	A	G	8: 63,808,299 (GRCm39)	T396A	probably benign	Het
Sva	A	T	6: 42,015,351 (GRCm39)		probably benign	Het
Syt7	A	G	19: 10,416,601 (GRCm39)	N261S	probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Thoc2	C	T	X: 40,895,570 (GRCm39)	E1491K	probably damaging	Het
Tlr1	T	C	5: 65,083,743 (GRCm39)	Y278C	probably benign	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Trpm4	T	G	7: 44,959,893 (GRCm39)	Y667S	probably damaging	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,851,387 (GRCm39)	H709R	probably damaging	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wars2	A	G	3: 99,094,849 (GRCm39)	H48R	probably damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	Het

Other mutations in Mmp14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Mmp14	APN	14	54,673,247 (GRCm39)	missense	possibly damaging	0.60
IGL01937:Mmp14	APN	14	54,675,053 (GRCm39)	splice site	probably benign
IGL02565:Mmp14	APN	14	54,678,014 (GRCm39)	missense	probably benign	0.02
Buffo	UTSW	14	54,675,115 (GRCm39)	missense	probably damaging	1.00
cartoon	UTSW	14	54,677,456 (GRCm39)	missense	probably damaging	0.96
Cartoonish	UTSW	14	54,674,232 (GRCm39)	missense	probably damaging	1.00
mumping	UTSW	14	54,676,869 (GRCm39)	missense	probably damaging	1.00
IGL03134:Mmp14	UTSW	14	54,676,563 (GRCm39)	missense	probably damaging	1.00
R0053:Mmp14	UTSW	14	54,676,109 (GRCm39)	splice site	probably benign
R0053:Mmp14	UTSW	14	54,676,109 (GRCm39)	splice site	probably benign
R0538:Mmp14	UTSW	14	54,676,166 (GRCm39)	missense	possibly damaging	0.47
R0612:Mmp14	UTSW	14	54,677,891 (GRCm39)	missense	probably damaging	1.00
R2352:Mmp14	UTSW	14	54,678,002 (GRCm39)	missense	probably benign	0.30
R3700:Mmp14	UTSW	14	54,669,389 (GRCm39)	unclassified	probably benign
R4289:Mmp14	UTSW	14	54,673,665 (GRCm39)	nonsense	probably null
R4888:Mmp14	UTSW	14	54,673,662 (GRCm39)	missense	probably damaging	0.98
R5068:Mmp14	UTSW	14	54,676,570 (GRCm39)	missense	probably damaging	1.00
R5070:Mmp14	UTSW	14	54,676,570 (GRCm39)	missense	probably damaging	1.00
R5216:Mmp14	UTSW	14	54,675,120 (GRCm39)	missense	possibly damaging	0.82
R5607:Mmp14	UTSW	14	54,676,869 (GRCm39)	missense	probably damaging	1.00
R6053:Mmp14	UTSW	14	54,673,347 (GRCm39)	missense	probably benign	0.39
R6477:Mmp14	UTSW	14	54,675,115 (GRCm39)	missense	probably damaging	1.00
R7153:Mmp14	UTSW	14	54,673,708 (GRCm39)	missense	possibly damaging	0.93
R7212:Mmp14	UTSW	14	54,673,336 (GRCm39)	missense	probably damaging	1.00
R7555:Mmp14	UTSW	14	54,675,199 (GRCm39)	missense	possibly damaging	0.96
R7957:Mmp14	UTSW	14	54,673,707 (GRCm39)	missense	probably benign	0.01
R8263:Mmp14	UTSW	14	54,673,244 (GRCm39)	missense	probably damaging	1.00
R8409:Mmp14	UTSW	14	54,678,125 (GRCm39)	missense	probably damaging	1.00
R8785:Mmp14	UTSW	14	54,674,232 (GRCm39)	missense	probably damaging	1.00
R9021:Mmp14	UTSW	14	54,673,632 (GRCm39)	missense	probably benign	0.00
R9325:Mmp14	UTSW	14	54,676,248 (GRCm39)	missense	probably damaging	1.00
R9367:Mmp14	UTSW	14	54,677,960 (GRCm39)	missense	probably benign	0.17
R9425:Mmp14	UTSW	14	54,677,804 (GRCm39)	missense	probably damaging	0.99
R9544:Mmp14	UTSW	14	54,673,251 (GRCm39)	missense	possibly damaging	0.85
R9583:Mmp14	UTSW	14	54,678,069 (GRCm39)	missense	probably benign	0.24
RF003:Mmp14	UTSW	14	54,676,471 (GRCm39)	nonsense	probably null
X0064:Mmp14	UTSW	14	54,669,403 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTTTGGGGACTGAGGAAGAC -3'
(R):5'- CCAGCTCCTTAATGTGCTTGGG -3'

Sequencing Primer
(F):5'- CGAAGGTATAAGGCATAATGTGTTC -3'
(R):5'- TTCCAGGGAGGCTTCGTCAAAC -3'

Posted On

2016-06-06