Mutagenetix > Incidental Mutation

Incidental Mutation 'RF003:Mmp14'

602654

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

RF003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54669055-54679913 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 54676471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 339 (R339*)

Ref Sequence

ENSEMBL: ENSMUSP00000087119 (fasta)

Gene Model

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

AlphaFold

P53690

Predicted Effect

probably null
Transcript: ENSMUST00000089688
AA Change: R339*

SMART Domains

Protein: ENSMUSP00000087119
Gene: ENSMUSG00000000957
AA Change: R339*

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 null
Transcript: ENSMUST00000225641
AA Change: R339*

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,642,479 (GRCm39)		probably benign	Het
A630073D07Rik	A	C	6: 132,604,406 (GRCm39)	L13R	unknown	Het
Alg9	GGC	GGCCGC	9: 50,686,727 (GRCm39)		probably benign	Het
Arb2a	A	T	13: 77,982,794 (GRCm39)	I135L	possibly damaging	Het
Arc	G	C	15: 74,543,980 (GRCm39)	T81S	probably benign	Het
Atad5	A	T	11: 80,002,386 (GRCm39)	K1059N	probably damaging	Het
Bdp1	C	A	13: 100,196,957 (GRCm39)	V1143F	probably benign	Het
Bdp1	C	A	13: 100,196,958 (GRCm39)	Q1142H	probably benign	Het
Ccdc33	T	C	9: 57,965,574 (GRCm39)	S583G	probably benign	Het
Cd109	TTAT	TTATTTATTTATATAT	9: 78,619,813 (GRCm39)		probably benign	Het
Cep192	A	T	18: 67,971,027 (GRCm39)	R1009S	probably benign	Het
Clvs2	T	A	10: 33,498,921 (GRCm39)	H3L	probably damaging	Het
Cnot6	T	C	11: 49,593,440 (GRCm39)	M14V	probably benign	Het
Colec10	A	G	15: 54,325,787 (GRCm39)	R206G	possibly damaging	Het
Dennd6a	T	C	14: 26,350,689 (GRCm39)	I598T	probably damaging	Het
Dmrt2	T	C	19: 25,655,498 (GRCm39)	S366P	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,821,427 (GRCm39)		probably null	Het
Efhb	T	C	17: 53,707,919 (GRCm39)	D748G	probably damaging	Het
Etl4	C	T	2: 20,524,729 (GRCm39)	Q21*	probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT	17: 23,981,140 (GRCm39)		probably null	Het
Fmn1	ACCTCC	ACCTCCCCCTCC	2: 113,356,131 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,821,865 (GRCm39)	M5866K	probably benign	Het
Gab3	CTT	CTTATT	X: 74,043,612 (GRCm39)		probably null	Het
Garin5a	C	CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA	7: 44,149,951 (GRCm39)		probably null	Het
Gnl2	T	A	4: 124,937,518 (GRCm39)		probably null	Het
Grip2	C	T	6: 91,760,574 (GRCm39)	R341Q	probably benign	Het
Hmcn1	T	A	1: 150,500,312 (GRCm39)	H3960L	probably damaging	Het
Igkv6-25	T	A	6: 70,192,762 (GRCm39)	Y56*	probably null	Het
Il12a	A	T	3: 68,602,562 (GRCm39)	T102S	probably benign	Het
Il1a	T	A	2: 129,144,852 (GRCm39)	I189F	possibly damaging	Het
Inpp4b	T	A	8: 82,696,150 (GRCm39)	Y361*	probably null	Het
Iqcf4	CTTTTCCTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT	9: 106,447,806 (GRCm39)		probably benign	Het
Irag2	AGCACATTG	AGCACATTGTGCACATTG	6: 145,119,509 (GRCm39)		probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 94,984,422 (GRCm39)		probably benign	Het
Lrrc8d	T	C	5: 105,960,507 (GRCm39)	Y306H	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 70,162,426 (GRCm39)		probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,136,777 (GRCm39)		probably benign	Het
Map1b	G	T	13: 99,567,258 (GRCm39)	A1821E	unknown	Het
Maz	A	G	7: 126,624,669 (GRCm39)	C284R	probably damaging	Het
Med23	A	G	10: 24,779,683 (GRCm39)	H920R	probably damaging	Het
Megf10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	18: 57,427,099 (GRCm39)		probably benign	Het
Mroh9	T	G	1: 162,885,630 (GRCm39)	K334T	probably damaging	Het
Nab1	A	T	1: 52,518,441 (GRCm39)	C320S	probably damaging	Het
Noto	T	C	6: 85,401,192 (GRCm39)	S74P	probably benign	Het
Nudt4	T	C	10: 95,385,236 (GRCm39)	N152D	possibly damaging	Het
Nup155	T	TTTTG	15: 8,148,660 (GRCm39)		probably benign	Het
Nusap1	AGCTGAGA	AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA	2: 119,458,084 (GRCm39)		probably benign	Het
Or10al2	A	C	17: 37,983,749 (GRCm39)	K278N	probably damaging	Het
Or2d4	T	A	7: 106,543,855 (GRCm39)	M118L	probably damaging	Het
Or2t48	CA	C	11: 58,419,983 (GRCm39)		probably null	Het
Or51f1e	GTTAT	GTTATTAT	7: 102,747,512 (GRCm39)			Het
Or51f1e	TTA	TTAGTA	7: 102,747,513 (GRCm39)		probably null	Het
Or7g16	T	C	9: 18,726,778 (GRCm39)	T271A	probably benign	Het
Or9a7	T	C	6: 40,521,296 (GRCm39)	I206V	probably benign	Het
Plxnc1	T	C	10: 94,630,306 (GRCm39)	Y1531C	probably damaging	Het
Pnma8b	TGA	TGAAGA	7: 16,679,941 (GRCm39)		probably benign	Het
Rp1	A	G	1: 4,414,917 (GRCm39)	V2065A	probably damaging	Het
Sbp	AAGATGCTGACAACA	AAGATGCTGACAACAGAGATGCTGACAACA	17: 24,164,343 (GRCm39)		probably benign	Het
Sepsecs	G	A	5: 52,804,533 (GRCm39)	T379M	probably benign	Het
Sfswap	GGCC	GGCCCACTCTGCC	5: 129,646,828 (GRCm39)		probably benign	Het
Six3	GCG	GCGTCG	17: 85,928,798 (GRCm39)		probably benign	Het
Tfeb	C	T	17: 48,099,003 (GRCm39)	T259I	possibly damaging	Het
Tgoln1	A	AAACTCAG	6: 72,593,335 (GRCm39)		probably null	Het
Tmem94	G	A	11: 115,686,958 (GRCm39)	V1108M	probably damaging	Het
Usp35	T	C	7: 96,971,303 (GRCm39)	K297E	possibly damaging	Het
Vcpkmt	T	A	12: 69,629,598 (GRCm39)	T55S	possibly damaging	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,013,446 (GRCm39)		probably benign	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp384	GGCCC	GGCCCTGGCCCAAGCCC	6: 125,013,439 (GRCm39)		probably benign	Het
Zfp407	A	T	18: 84,227,688 (GRCm39)	S1974T	probably benign	Het
Zfp677	T	C	17: 21,617,704 (GRCm39)	S254P	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
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
X0064:Mmp14	UTSW	14	54,669,403 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCTCCGAGGAGAGATGTTTG -3'
(R):5'- AACCAGTCATCCGGGAAGAC -3'

Sequencing Primer
(F):5'- CCGAGGAGAGATGTTTGTCTTCAAG -3'
(R):5'- GACCCTTCCAACCAAGTTCCTAGG -3'

Posted On

2019-12-04