Incidental Mutation 'IGL02738:Mmp1a'
ID 305785
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp1a
Ensembl Gene ENSMUSG00000043089
Gene Name matrix metallopeptidase 1a (interstitial collagenase)
Synonyms Mcol-A
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.281) question?
Stock # IGL02738
Quality Score
Status
Chromosome 9
Chromosomal Location 7464141-7476857 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 7464301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034492] [ENSMUST00000217651]
AlphaFold Q9EPL5
Predicted Effect probably benign
Transcript: ENSMUST00000034492
SMART Domains Protein: ENSMUSP00000034492
Gene: ENSMUSG00000043089

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:PG_binding_1 25 84 8.2e-14 PFAM
ZnMc 97 259 2.99e-44 SMART
HX 281 323 8.12e-6 SMART
HX 325 369 7.81e-8 SMART
HX 374 421 5.82e-16 SMART
HX 423 463 2.18e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000217651
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 that degrades collagens. Mice lacking the encoded protein exhibit decreased susceptibility to chemical carcinogen-induced lung tumor development and angiogenesis. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced inflammatory response following chemical induction of tumors and male mice exhibit fewer large induced tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 A T 2: 150,466,792 (GRCm39) probably benign Het
Akr1c21 A T 13: 4,630,300 (GRCm39) N198Y probably damaging Het
Anapc11 A T 11: 120,490,102 (GRCm39) K6I probably benign Het
Angel1 G A 12: 86,752,060 (GRCm39) L554F probably benign Het
Arhgap11a A T 2: 113,663,320 (GRCm39) *988K probably null Het
Arnt T A 3: 95,402,631 (GRCm39) probably null Het
Atp1a3 T A 7: 24,689,901 (GRCm39) D519V possibly damaging Het
Bdp1 C A 13: 100,187,861 (GRCm39) A1575S probably benign Het
Bglap G A 3: 88,291,715 (GRCm39) T3I unknown Het
Brca2 C T 5: 150,490,500 (GRCm39) P3054L probably damaging Het
Btn2a2 C A 13: 23,662,976 (GRCm39) E316* probably null Het
C1qtnf9 C T 14: 61,017,388 (GRCm39) T306I probably benign Het
Caprin2 T C 6: 148,744,360 (GRCm39) T1022A probably damaging Het
Cd109 T C 9: 78,598,581 (GRCm39) Y940H probably damaging Het
Cd300ld A G 11: 114,875,076 (GRCm39) L186S probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A T 2: 160,807,618 (GRCm39) S1865R probably benign Het
Chrna2 T C 14: 66,386,889 (GRCm39) V345A probably benign Het
Dnah1 T G 14: 31,014,597 (GRCm39) E1756A probably benign Het
Dnah3 C T 7: 119,564,720 (GRCm39) A2637T probably benign Het
Ern2 A G 7: 121,782,122 (GRCm39) F80S probably damaging Het
Ero1b A G 13: 12,619,322 (GRCm39) I439V possibly damaging Het
Eva1a T G 6: 82,048,211 (GRCm39) S30A probably benign Het
Fer1l4 A G 2: 155,887,648 (GRCm39) L516P probably benign Het
Garin2 T A 12: 78,780,989 (GRCm39) probably benign Het
Hexim2 T C 11: 103,029,103 (GRCm39) S52P probably damaging Het
Hoxb9 A T 11: 96,165,554 (GRCm39) M208L possibly damaging Het
Lbr A G 1: 181,659,778 (GRCm39) V139A probably benign Het
Lcn10 G A 2: 25,574,032 (GRCm39) probably benign Het
Letm2 A G 8: 26,076,789 (GRCm39) I271T probably damaging Het
Lrrc34 T C 3: 30,685,441 (GRCm39) S303G possibly damaging Het
Matn2 C A 15: 34,388,885 (GRCm39) A325D probably benign Het
Mboat4 T C 8: 34,582,258 (GRCm39) L4P probably damaging Het
Naip2 T A 13: 100,325,685 (GRCm39) R74S probably benign Het
Neb G T 2: 52,133,862 (GRCm39) Q3374K probably damaging Het
Nup210l A G 3: 90,044,157 (GRCm39) E486G possibly damaging Het
Or4b13 A G 2: 90,082,699 (GRCm39) I211T possibly damaging Het
Or4k51 A C 2: 111,584,699 (GRCm39) Y35S probably damaging Het
Or5m12 A G 2: 85,735,293 (GRCm39) V35A probably benign Het
Or6c69 A T 10: 129,747,200 (GRCm39) probably benign Het
Pde8a A C 7: 80,976,090 (GRCm39) N677H probably damaging Het
Plag1 G A 4: 3,903,812 (GRCm39) Q460* probably null Het
Podnl1 A G 8: 84,858,824 (GRCm39) T550A probably benign Het
Ptpn22 A G 3: 103,781,382 (GRCm39) probably benign Het
Pycr3 A T 15: 75,790,565 (GRCm39) I98N probably damaging Het
Rtn4r A G 16: 17,969,052 (GRCm39) Y160C probably damaging Het
Slc27a4 A G 2: 29,701,238 (GRCm39) N343S probably benign Het
Slc2a4 A G 11: 69,836,940 (GRCm39) Y43H probably damaging Het
Sorbs1 A T 19: 40,365,348 (GRCm39) L145Q probably damaging Het
Speer2 A T 16: 69,658,600 (GRCm39) S22T probably benign Het
Sugp2 G T 8: 70,696,449 (GRCm39) G474V probably damaging Het
Syt3 C T 7: 44,035,447 (GRCm39) S18L possibly damaging Het
Tacc1 T C 8: 25,691,159 (GRCm39) E48G probably damaging Het
Tdrd6 A G 17: 43,931,337 (GRCm39) V2083A probably benign Het
Thra A T 11: 98,655,185 (GRCm39) H355L probably benign Het
Tmem35b C T 4: 127,019,981 (GRCm39) Q34* probably null Het
Unk G T 11: 115,947,017 (GRCm39) G537V probably damaging Het
Usp32 T A 11: 84,974,632 (GRCm39) D92V probably damaging Het
Vmn1r209 G T 13: 22,990,290 (GRCm39) Y133* probably null Het
Vmn1r42 A G 6: 89,821,630 (GRCm39) V313A possibly damaging Het
Vnn1 A G 10: 23,780,520 (GRCm39) I503V probably benign Het
Vwa2 G A 19: 56,886,361 (GRCm39) G143R possibly damaging Het
Other mutations in Mmp1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Mmp1a APN 9 7,476,260 (GRCm39) missense probably benign 0.04
IGL02179:Mmp1a APN 9 7,464,273 (GRCm39) missense probably benign 0.23
IGL02984:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
IGL02988:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
IGL02991:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
IGL03014:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
IGL03050:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
IGL03054:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
IGL03055:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
IGL03097:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
IGL03098:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
IGL03134:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
IGL03138:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
IGL03147:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R0095:Mmp1a UTSW 9 7,465,621 (GRCm39) missense possibly damaging 0.51
R0095:Mmp1a UTSW 9 7,465,621 (GRCm39) missense possibly damaging 0.51
R1422:Mmp1a UTSW 9 7,464,298 (GRCm39) splice site probably null
R1663:Mmp1a UTSW 9 7,465,657 (GRCm39) missense probably benign 0.33
R1801:Mmp1a UTSW 9 7,475,391 (GRCm39) missense probably damaging 1.00
R2171:Mmp1a UTSW 9 7,475,357 (GRCm39) missense probably damaging 0.99
R3415:Mmp1a UTSW 9 7,464,869 (GRCm39) missense possibly damaging 0.92
R3901:Mmp1a UTSW 9 7,475,346 (GRCm39) makesense probably null
R4175:Mmp1a UTSW 9 7,467,236 (GRCm39) missense probably benign 0.03
R5406:Mmp1a UTSW 9 7,467,294 (GRCm39) missense probably damaging 1.00
R6462:Mmp1a UTSW 9 7,467,039 (GRCm39) missense probably benign 0.01
R7016:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R7039:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R7098:Mmp1a UTSW 9 7,475,938 (GRCm39) missense probably benign 0.00
R7144:Mmp1a UTSW 9 7,475,319 (GRCm39) missense probably damaging 1.00
R7196:Mmp1a UTSW 9 7,476,018 (GRCm39) nonsense probably null
R7284:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R7289:Mmp1a UTSW 9 7,467,294 (GRCm39) missense probably damaging 1.00
R7313:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R7510:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R7537:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R7574:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R7626:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R7755:Mmp1a UTSW 9 7,467,005 (GRCm39) missense possibly damaging 0.92
R7789:Mmp1a UTSW 9 7,475,266 (GRCm39) missense possibly damaging 0.70
R7791:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R7900:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R8000:Mmp1a UTSW 9 7,476,215 (GRCm39) missense probably benign 0.11
R8009:Mmp1a UTSW 9 7,467,236 (GRCm39) missense possibly damaging 0.76
R8039:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R8072:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R8497:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R8884:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R8890:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R9146:Mmp1a UTSW 9 7,464,997 (GRCm39) missense probably damaging 0.98
R9213:Mmp1a UTSW 9 7,475,364 (GRCm39) missense possibly damaging 0.95
R9425:Mmp1a UTSW 9 7,476,210 (GRCm39) missense probably damaging 1.00
R9565:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R9588:Mmp1a UTSW 9 7,467,225 (GRCm39) missense probably benign 0.43
R9599:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
R9612:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
RF004:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
X0020:Mmp1a UTSW 9 7,465,627 (GRCm39) missense probably damaging 1.00
Z1177:Mmp1a UTSW 9 7,467,034 (GRCm39) missense possibly damaging 0.68
Z1177:Mmp1a UTSW 9 7,464,230 (GRCm39) missense probably benign 0.21
Posted On 2015-04-16