Mutagenetix > Incidental Mutation

Incidental Mutation 'R9367:Mmp14'

709078

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R9367 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54669055-54679913 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54677960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 527 (I527T)

Ref Sequence

ENSEMBL: ENSMUSP00000087119 (fasta)

Gene Model

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

AlphaFold

P53690

Predicted Effect

probably benign
Transcript: ENSMUST00000089688
AA Change: I527T

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000087119
Gene: ENSMUSG00000000957
AA Change: I527T

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 benign
Transcript: ENSMUST00000225641

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
4930568D16Rik	A	T	2: 35,244,939 (GRCm39)	Y138N	probably benign	Het
Abca4	T	C	3: 121,838,197 (GRCm39)	M1T	probably null	Het
Acer3	A	G	7: 97,908,621 (GRCm39)	V104A	probably damaging	Het
Agpat4	A	G	17: 12,435,597 (GRCm39)	E287G	probably benign	Het
Akip1	C	T	7: 109,308,156 (GRCm39)	A146V	unknown	Het
Ank2	T	C	3: 126,738,678 (GRCm39)	N2402S	unknown	Het
Arhgdig	A	T	17: 26,418,451 (GRCm39)	Y177*	probably null	Het
Arhgef38	T	A	3: 132,847,998 (GRCm39)	T355S	unknown	Het
Atp8a2	C	A	14: 60,249,827 (GRCm39)		probably null	Het
Atp8b4	A	G	2: 126,216,430 (GRCm39)	I672T	probably damaging	Het
Baat	T	A	4: 49,503,008 (GRCm39)	D38V	probably damaging	Het
Bcl9	T	C	3: 97,117,861 (GRCm39)	S278G	probably benign	Het
Ccdc150	C	T	1: 54,324,760 (GRCm39)	L350F	probably damaging	Het
Ceacam20	T	G	7: 19,705,533 (GRCm39)	S175A	probably damaging	Het
Chd6	A	T	2: 160,871,784 (GRCm39)	I217K	possibly damaging	Het
Cnppd1	T	C	1: 75,117,617 (GRCm39)	I35V	probably benign	Het
Col15a1	T	C	4: 47,245,603 (GRCm39)	I118T	probably damaging	Het
Csmd3	A	T	15: 47,567,564 (GRCm39)	Y1289N		Het
Dio2	T	C	12: 90,696,587 (GRCm39)	T134A	probably benign	Het
Dnaaf9	A	T	2: 130,581,380 (GRCm39)	N678K	probably benign	Het
Dnah17	A	G	11: 117,987,464 (GRCm39)	V1282A	possibly damaging	Het
Dnah17	A	G	11: 118,012,212 (GRCm39)	S517P	possibly damaging	Het
Dync2h1	C	T	9: 7,125,730 (GRCm39)		probably null	Het
Echdc2	C	A	4: 108,036,111 (GRCm39)	P274Q	probably damaging	Het
Fam117a	T	A	11: 95,271,570 (GRCm39)	C381S	probably damaging	Het
Fbxl12	A	G	9: 20,550,130 (GRCm39)	F122S	probably damaging	Het
Gen1	G	A	12: 11,291,309 (GRCm39)	Q892*	probably null	Het
Gimap4	A	G	6: 48,667,746 (GRCm39)	Y167C	probably damaging	Het
Gle1	T	A	2: 29,839,014 (GRCm39)	F476L	probably damaging	Het
Gpr135	A	T	12: 72,117,473 (GRCm39)	V98E	possibly damaging	Het
Greb1l	A	T	18: 10,522,130 (GRCm39)	H742L	probably benign	Het
Habp2	G	T	19: 56,304,781 (GRCm39)	C392F	probably damaging	Het
Hapln3	G	T	7: 78,771,455 (GRCm39)	R145S	probably damaging	Het
Ikbkb	A	G	8: 23,171,711 (GRCm39)	C179R	probably damaging	Het
Kat6a	A	T	8: 23,400,156 (GRCm39)	I306L	possibly damaging	Het
Lmo3	A	T	6: 138,342,958 (GRCm39)	Y140*	probably null	Het
Lrrc32	T	A	7: 98,148,937 (GRCm39)	N572K	probably damaging	Het
Lrrn1	T	A	6: 107,545,093 (GRCm39)	M297K	probably damaging	Het
Magi2	G	A	5: 20,766,308 (GRCm39)	V676I	probably damaging	Het
Mdga1	T	C	17: 30,051,282 (GRCm39)	*957W	probably null	Het
Mip	G	T	10: 128,063,029 (GRCm39)	G158V	probably damaging	Het
Mmp27	G	A	9: 7,573,550 (GRCm39)	G188D	probably damaging	Het
Mylk4	A	T	13: 32,960,236 (GRCm39)	C17S	possibly damaging	Het
Naa50	T	G	16: 43,977,554 (GRCm39)	I94R	probably damaging	Het
Nyap1	A	T	5: 137,734,248 (GRCm39)	Y262N	probably damaging	Het
Obsl1	A	G	1: 75,466,177 (GRCm39)	V1517A	probably benign	Het
P4htm	T	A	9: 108,459,147 (GRCm39)	M262L	probably benign	Het
Pappa2	T	C	1: 158,784,542 (GRCm39)	E156G	probably benign	Het
Pcdhb15	A	T	18: 37,607,971 (GRCm39)	Y401F	possibly damaging	Het
Pde2a	G	A	7: 101,160,361 (GRCm39)	R845H	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Penk	C	T	4: 4,134,097 (GRCm39)	M183I	probably benign	Het
Pole	T	C	5: 110,444,955 (GRCm39)	V437A	probably damaging	Het
Ppp1r7	T	C	1: 93,279,262 (GRCm39)	I114T	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Pwp2	G	A	10: 78,014,827 (GRCm39)	Q386*	probably null	Het
Rad17	A	T	13: 100,769,720 (GRCm39)	S280T	possibly damaging	Het
Rhebl1	C	T	15: 98,776,414 (GRCm39)	E128K	possibly damaging	Het
Sema3e	G	T	5: 14,291,084 (GRCm39)	V615L	probably benign	Het
Slc22a2	A	T	17: 12,824,837 (GRCm39)	Y233F	probably benign	Het
Ssu2	A	G	6: 112,357,975 (GRCm39)	S123P	probably damaging	Het
Stk10	A	G	11: 32,538,878 (GRCm39)	E239G		Het
Surf6	G	T	2: 26,782,380 (GRCm39)	Q316K	probably damaging	Het
Tcerg1	G	A	18: 42,685,573 (GRCm39)	D637N	possibly damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tnxb	C	A	17: 34,931,993 (GRCm39)	F2175L	probably damaging	Het
Trp53i11	G	C	2: 93,029,273 (GRCm39)	V91L	probably benign	Het
Tspan9	A	G	6: 127,944,102 (GRCm39)	V66A	probably damaging	Het
Usp16	C	T	16: 87,261,669 (GRCm39)	T95M	probably benign	Het
Usp9y	A	T	Y: 1,324,982 (GRCm39)	F1691Y	probably damaging	Het
Uty	A	T	Y: 1,099,584 (GRCm39)	L1204I	possibly damaging	Het
Vmn1r192	A	T	13: 22,371,800 (GRCm39)	V140D	possibly damaging	Het
Vps54	T	C	11: 21,250,234 (GRCm39)	V552A	probably benign	Het
Vps8	T	C	16: 21,340,668 (GRCm39)	V804A	possibly damaging	Het
Zfp869	A	C	8: 70,161,057 (GRCm39)	L33R	probably damaging	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
R5069: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
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'- GGGCCTTTATGGACTCTGTC -3'
(R):5'- AAGTCCTTGTGGTAGAAGCGG -3'

Sequencing Primer
(F):5'- GTCTTCTTGGGGCCCTTCAG -3'
(R):5'- CAGTGGTGGGGGTCAGAC -3'

Posted On

2022-04-18