Incidental Mutation 'IGL01473:Mmp17'
ID 88356
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: 0.098) question?
Stock # IGL01473
Quality Score
Status
Chromosome 5
Chromosomal Location 129661233-129688163 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129683472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 536 (D536G)
Ref Sequence ENSEMBL: ENSMUSP00000031390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031390]
AlphaFold Q9R0S3
Predicted Effect probably benign
Transcript: ENSMUST00000031390
AA Change: D536G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000031390
Gene: ENSMUSG00000029436
AA Change: D536G

DomainStartEndE-ValueType
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 T C 16: 29,135,542 (GRCm39) Y350C probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Clcn1 C A 6: 42,268,637 (GRCm39) A181D probably damaging Het
Cylc1 G T X: 110,166,449 (GRCm39) K243N unknown Het
Dsp A G 13: 38,351,547 (GRCm39) Y122C probably damaging Het
Exoc5 A G 14: 49,251,751 (GRCm39) V665A possibly damaging Het
Fcho1 G A 8: 72,164,782 (GRCm39) P500S probably benign Het
Flg2 A G 3: 93,110,327 (GRCm39) E785G unknown Het
Fpr1 A G 17: 18,097,954 (GRCm39) S12P possibly damaging Het
Hydin G T 8: 111,081,585 (GRCm39) G327V probably damaging Het
Hydin A T 8: 111,038,792 (GRCm39) M177L probably benign Het
Itga10 G A 3: 96,554,957 (GRCm39) G97E probably damaging Het
Khdc1c T A 1: 21,439,130 (GRCm39) Y39N possibly damaging Het
Lrp1b T G 2: 40,501,498 (GRCm39) T202P probably damaging Het
Marchf10 T C 11: 105,280,431 (GRCm39) K618R probably damaging Het
Mdc1 C A 17: 36,158,912 (GRCm39) L431I probably benign Het
Myh8 G A 11: 67,192,651 (GRCm39) probably null Het
Odad3 C A 9: 21,906,675 (GRCm39) probably null Het
Pop4 A G 7: 37,963,820 (GRCm39) V154A probably benign Het
Ppp1r13l C T 7: 19,109,193 (GRCm39) R608C probably damaging Het
Prss36 T C 7: 127,543,873 (GRCm39) H166R probably damaging Het
Rab11fip3 C T 17: 26,287,709 (GRCm39) R148Q possibly damaging Het
Rbm39 T A 2: 156,014,899 (GRCm39) R49* probably null Het
S100a11 T C 3: 93,433,413 (GRCm39) C86R probably damaging Het
Skint7 T C 4: 111,839,402 (GRCm39) I232T probably damaging Het
Smchd1 G A 17: 71,696,745 (GRCm39) T1210I probably benign Het
Speg C T 1: 75,404,929 (GRCm39) T2907I possibly damaging Het
Spz1 A T 13: 92,711,764 (GRCm39) C237* probably null Het
Sun3 G T 11: 8,979,394 (GRCm39) D42E probably benign Het
Tgds C T 14: 118,365,626 (GRCm39) probably benign Het
Tnxb G A 17: 34,904,675 (GRCm39) D1270N probably damaging Het
Vmn2r78 A C 7: 86,569,520 (GRCm39) T138P possibly damaging Het
Wdfy1 T C 1: 79,685,182 (GRCm39) I351V probably benign Het
Other mutations in Mmp17
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02160:Mmp17 APN 5 129,672,633 (GRCm39) missense possibly damaging 0.91
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 2013-11-18