Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02160:Mmp17'

282397

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmp17

Ensembl Gene

ENSMUSG00000029436

Gene Name

matrix metallopeptidase 17

Synonyms

MT4-MMP, membrane type-4 matrix metalloproteinase

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL02160

Quality Score

Status

Chromosome

Chromosomal Location

129661233-129688163 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129672633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 195 (D195G)

Ref Sequence

ENSEMBL: ENSMUSP00000031390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031390]

AlphaFold

Q9R0S3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031390
AA Change: D195G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031390
Gene: ENSMUSG00000029436
AA Change: D195G

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
Pfam:PG_binding_1	44	104	5e-15	PFAM
ZnMc	128	295	8.26e-47	SMART
low complexity region	308	320	N/A	INTRINSIC
HX	340	384	3.17e-8	SMART
HX	389	432	2.59e-13	SMART
HX	435	481	6.39e-13	SMART
HX	483	527	1.1e-7	SMART
low complexity region	563	578	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177802

Coding Region Coverage

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 dysfunctional vascular smooth muscle cells and altered extracellular matrix in the vessel wall leading to an increased susceptibility to angiotensin-II-induced thoracic aortic aneurysm. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a reporter allele exhibit normal morphology, clinical chemistry, hematology and behavior. Mice homozygous for a reporter/null allele exhibit normal growth, fertility, and lifespan but show subtle renal developmental defects, hypodipsia, and elevated urine osmolarity. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	G	9: 53,503,287 (GRCm39)	V184A	probably benign	Het
Adam19	G	A	11: 46,030,522 (GRCm39)	C750Y	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cabp2	T	A	19: 4,134,868 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,731,015 (GRCm39)	M94T	possibly damaging	Het
Ccdc107	A	G	4: 43,495,736 (GRCm39)	D213G	probably damaging	Het
Cdh23	T	C	10: 60,433,544 (GRCm39)		probably benign	Het
Cfap251	A	T	5: 123,394,081 (GRCm39)	E323D	unknown	Het
Cfhr2	T	A	1: 139,738,664 (GRCm39)	D299V	probably benign	Het
Clcn7	T	C	17: 25,368,004 (GRCm39)		probably benign	Het
Clspn	G	A	4: 126,475,303 (GRCm39)	E1019K	probably benign	Het
Ctnna3	A	G	10: 64,086,477 (GRCm39)	T350A	probably benign	Het
Dmbt1	G	A	7: 130,684,418 (GRCm39)	G638E	probably damaging	Het
Ext2	A	T	2: 93,643,929 (GRCm39)	D117E	probably benign	Het
Fem1al	A	T	11: 29,773,593 (GRCm39)	Y621*	probably null	Het
Ffar4	T	A	19: 38,085,903 (GRCm39)	V110D	possibly damaging	Het
Foxred2	G	T	15: 77,839,850 (GRCm39)	Q147K	probably benign	Het
Heatr9	T	C	11: 83,409,651 (GRCm39)	D107G	probably benign	Het
Hmgxb3	G	A	18: 61,304,308 (GRCm39)	A94V	probably damaging	Het
Htr5b	A	T	1: 121,455,774 (GRCm39)	S49T	possibly damaging	Het
Il1rl1	A	T	1: 40,500,997 (GRCm39)	M458L	probably benign	Het
Il23r	A	T	6: 67,400,562 (GRCm39)	N589K	probably benign	Het
Kbtbd11	G	A	8: 15,078,801 (GRCm39)	V467M	probably damaging	Het
Kidins220	T	A	12: 25,054,110 (GRCm39)	Y537N	probably damaging	Het
Kif27	T	A	13: 58,473,812 (GRCm39)	E728D	probably damaging	Het
Lum	T	C	10: 97,404,443 (GRCm39)	S113P	probably damaging	Het
Mkln1	A	G	6: 31,469,726 (GRCm39)		probably benign	Het
Naa38	T	A	11: 69,287,194 (GRCm39)		probably benign	Het
Naalad2	G	A	9: 18,291,233 (GRCm39)	A191V	probably damaging	Het
Naip6	A	T	13: 100,435,933 (GRCm39)	H863Q	probably benign	Het
Ncoa6	A	G	2: 155,263,003 (GRCm39)	V477A	possibly damaging	Het
Nipal3	G	T	4: 135,201,728 (GRCm39)	Y153*	probably null	Het
Or10s1	A	T	9: 39,986,482 (GRCm39)	N297I	probably damaging	Het
Or13d1	A	G	4: 52,971,194 (GRCm39)	D191G	probably damaging	Het
Or4c12	G	T	2: 89,774,149 (GRCm39)	H103Q	probably damaging	Het
Or4g16	G	A	2: 111,137,143 (GRCm39)	V198I	probably benign	Het
Or9s23	T	A	1: 92,501,079 (GRCm39)	L62Q	probably damaging	Het
Pik3c2a	G	A	7: 115,987,299 (GRCm39)	P541S	probably damaging	Het
Ppargc1b	A	T	18: 61,443,506 (GRCm39)	D552E	probably damaging	Het
Ppfia3	C	A	7: 45,009,475 (GRCm39)		probably benign	Het
Prcp	G	A	7: 92,566,969 (GRCm39)	S227N	probably benign	Het
Ptprq	T	A	10: 107,489,426 (GRCm39)	T900S	probably benign	Het
Ralgapa2	G	A	2: 146,190,360 (GRCm39)		probably benign	Het
Rcsd1	A	G	1: 165,485,148 (GRCm39)	S102P	probably damaging	Het
Rfwd3	T	A	8: 111,999,707 (GRCm39)	N757I	possibly damaging	Het
Rnf217	A	T	10: 31,381,767 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,560,460 (GRCm39)	D1230G	probably damaging	Het
Sdc3	T	C	4: 130,545,886 (GRCm39)		probably benign	Het
Slc27a4	G	T	2: 29,695,974 (GRCm39)	D170Y	probably benign	Het
Tcof1	A	G	18: 60,981,815 (GRCm39)		probably benign	Het
Ticam1	T	A	17: 56,577,560 (GRCm39)	I512F	possibly damaging	Het
Ticrr	T	C	7: 79,343,767 (GRCm39)	C1211R	probably benign	Het
Tlr2	A	T	3: 83,744,678 (GRCm39)	N468K	possibly damaging	Het
Tmod4	T	C	3: 95,036,424 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,933,719 (GRCm39)	S2380P	probably benign	Het
Top6bl	T	C	19: 4,713,612 (GRCm39)	D276G	probably damaging	Het
Tox	A	G	4: 6,711,537 (GRCm39)	V309A	probably damaging	Het
Tpgs2	A	G	18: 25,273,637 (GRCm39)	F175L	possibly damaging	Het
Trim43b	A	G	9: 88,973,683 (GRCm39)	S17P	probably benign	Het
Ttc21a	G	T	9: 119,785,989 (GRCm39)	L662F	probably damaging	Het
Ubqln1	A	T	13: 58,339,951 (GRCm39)	N261K	probably damaging	Het
Umodl1	T	C	17: 31,205,091 (GRCm39)	V562A	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vars1	T	A	17: 35,220,478 (GRCm39)	I20N	probably damaging	Het
Vcan	T	C	13: 89,832,612 (GRCm39)	N3092D	probably damaging	Het
Zc3h6	G	T	2: 128,839,605 (GRCm39)	E139D	probably benign	Het

Other mutations in Mmp17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Mmp17	APN	5	129,683,472 (GRCm39)	missense	probably benign	0.00
IGL01602:Mmp17	APN	5	129,679,008 (GRCm39)	missense	probably benign	0.00
IGL01605:Mmp17	APN	5	129,679,008 (GRCm39)	missense	probably benign	0.00
IGL01782:Mmp17	APN	5	129,679,205 (GRCm39)	missense	probably damaging	1.00
IGL01986:Mmp17	APN	5	129,673,692 (GRCm39)	missense	probably damaging	1.00
IGL02096:Mmp17	APN	5	129,675,752 (GRCm39)	nonsense	probably null
IGL03075:Mmp17	APN	5	129,672,138 (GRCm39)	missense	probably damaging	1.00
P0005:Mmp17	UTSW	5	129,673,695 (GRCm39)	missense	probably benign	0.00
R0125:Mmp17	UTSW	5	129,671,646 (GRCm39)	missense	possibly damaging	0.88
R0553:Mmp17	UTSW	5	129,675,734 (GRCm39)	missense	probably benign	0.30
R1521:Mmp17	UTSW	5	129,672,152 (GRCm39)	splice site	probably null
R1938:Mmp17	UTSW	5	129,679,190 (GRCm39)	missense	probably damaging	1.00
R2151:Mmp17	UTSW	5	129,682,725 (GRCm39)	missense	probably benign	0.01
R4908:Mmp17	UTSW	5	129,682,730 (GRCm39)	nonsense	probably null
R4970:Mmp17	UTSW	5	129,679,229 (GRCm39)	missense	possibly damaging	0.51
R5096:Mmp17	UTSW	5	129,682,627 (GRCm39)	missense	probably damaging	1.00
R5112:Mmp17	UTSW	5	129,679,229 (GRCm39)	missense	possibly damaging	0.51
R5178:Mmp17	UTSW	5	129,672,122 (GRCm39)	missense	probably damaging	1.00
R5304:Mmp17	UTSW	5	129,671,678 (GRCm39)	missense	probably null	0.89
R5341:Mmp17	UTSW	5	129,679,193 (GRCm39)	missense	possibly damaging	0.50
R6341:Mmp17	UTSW	5	129,679,019 (GRCm39)	missense	probably damaging	0.99
R6501:Mmp17	UTSW	5	129,683,469 (GRCm39)	missense	probably benign	0.00
R7257:Mmp17	UTSW	5	129,672,697 (GRCm39)	missense	probably benign	0.03
R7371:Mmp17	UTSW	5	129,682,836 (GRCm39)	missense	probably null	0.98
R7546:Mmp17	UTSW	5	129,673,653 (GRCm39)	missense	probably damaging	1.00
R8026:Mmp17	UTSW	5	129,672,148 (GRCm39)	critical splice donor site	probably null
R8370:Mmp17	UTSW	5	129,682,642 (GRCm39)	missense	probably damaging	1.00
R8525:Mmp17	UTSW	5	129,679,271 (GRCm39)	missense	probably damaging	1.00
R8708:Mmp17	UTSW	5	129,672,486 (GRCm39)	missense	possibly damaging	0.67
R8803:Mmp17	UTSW	5	129,675,773 (GRCm39)	nonsense	probably null
R8878:Mmp17	UTSW	5	129,683,378 (GRCm39)	missense	probably damaging	1.00
R8882:Mmp17	UTSW	5	129,679,008 (GRCm39)	missense	probably benign	0.00
R9399:Mmp17	UTSW	5	129,671,686 (GRCm39)	nonsense	probably null
R9404:Mmp17	UTSW	5	129,682,741 (GRCm39)	missense	possibly damaging	0.89
R9528:Mmp17	UTSW	5	129,683,392 (GRCm39)	missense	probably benign	0.00
W0251:Mmp17	UTSW	5	129,672,591 (GRCm39)	missense	probably benign	0.09
Y5377:Mmp17	UTSW	5	129,672,594 (GRCm39)	missense	probably damaging	1.00
Y5380:Mmp17	UTSW	5	129,672,594 (GRCm39)	missense	probably damaging	1.00
Z1177:Mmp17	UTSW	5	129,672,725 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16