Incidental Mutation 'IGL02991:Mmp1a'
ID 452928
Institutional Source Beutler Lab
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 # IGL02991 (G1)
Quality Score 214
Status Validated
Chromosome 9
Chromosomal Location 7464141-7476857 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) TG to TGG at 7465083 bp (GRCm38)
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 null
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 null
Transcript: ENSMUST00000217651
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 95% (73/77)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Adam23 T C 1: 63,586,978 (GRCm39) probably null Het
Aptx C A 4: 40,686,687 (GRCm39) G199C probably damaging Het
Asap2 T C 12: 21,299,294 (GRCm39) probably benign Het
Atp11b A G 3: 35,881,140 (GRCm39) T566A probably benign Het
Bcas3 C T 11: 85,348,713 (GRCm39) Q202* probably null Het
Cacna1h C A 17: 25,610,286 (GRCm39) R740L possibly damaging Het
Casp8 T A 1: 58,866,438 (GRCm39) N146K probably benign Het
Ccdc63 T C 5: 122,246,275 (GRCm39) M549V probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh20 T C 1: 104,861,972 (GRCm39) S51P probably benign Het
Chd7 T C 4: 8,828,398 (GRCm39) M1113T possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 ACC AC 1: 139,164,822 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Cxcl11 C T 5: 92,509,169 (GRCm39) R28H probably damaging Het
Defb40 C T 8: 19,025,119 (GRCm39) C29Y probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Fen1 A T 19: 10,178,026 (GRCm39) D139E probably benign Het
Frem3 A G 8: 81,395,511 (GRCm39) E1846G probably damaging Het
Gria2 T A 3: 80,615,116 (GRCm39) K455* probably null Het
Hmcn1 A T 1: 150,614,409 (GRCm39) N1332K possibly damaging Het
Htr5b C T 1: 121,455,756 (GRCm39) V55M probably benign Het
Ighv6-5 A T 12: 114,380,315 (GRCm39) N86K probably benign Het
Il4ra T C 7: 125,174,833 (GRCm39) V347A possibly damaging Het
Itih5 A G 2: 10,256,162 (GRCm39) E876G probably benign Het
Itpkb A T 1: 180,155,279 (GRCm39) probably benign Het
Lbr T C 1: 181,649,117 (GRCm39) Y334C probably damaging Het
Lrfn2 T C 17: 49,377,732 (GRCm39) L271P probably damaging Het
Lss T A 10: 76,379,745 (GRCm39) probably benign Het
Map1a T C 2: 121,132,091 (GRCm39) V731A probably damaging Het
Mob3b T A 4: 35,083,805 (GRCm39) Q128L probably benign Het
Mog T C 17: 37,334,091 (GRCm39) M1V probably null Het
Mrpl4 A G 9: 20,919,901 (GRCm39) Y284C probably damaging Het
Mtus2 T G 5: 148,250,310 (GRCm39) V310G probably damaging Het
Mup11 ACAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCA 4: 60,618,275 (GRCm39) probably benign Het
Odad4 A G 11: 100,444,698 (GRCm39) S285G probably benign Het
Or10g9 T C 9: 39,911,698 (GRCm39) Y275C probably damaging Het
Or8g55 T A 9: 39,785,362 (GRCm39) S264T probably benign Het
Orc3 T G 4: 34,593,083 (GRCm39) Q328P probably damaging Het
Otulinl T C 15: 27,658,388 (GRCm39) S211G possibly damaging Het
Pcdhb20 G T 18: 37,639,264 (GRCm39) G597C probably damaging Het
Pdxdc1 A G 16: 13,675,260 (GRCm39) I334T probably damaging Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Proz G A 8: 13,123,490 (GRCm39) E254K probably benign Het
Psma6 T C 12: 55,454,357 (GRCm39) probably benign Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Ryr2 A G 13: 11,776,192 (GRCm39) V1115A probably damaging Het
Sfxn5 G T 6: 85,266,190 (GRCm39) N102K possibly damaging Het
Sgo2a G T 1: 58,054,514 (GRCm39) probably benign Het
Slc14a2 A T 18: 78,249,049 (GRCm39) M1K probably null Het
Spag5 T A 11: 78,205,077 (GRCm39) L621M probably damaging Het
Spata31 A G 13: 65,068,533 (GRCm39) Y227C probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Supt6 T C 11: 78,116,179 (GRCm39) E728G probably damaging Het
Sympk T A 7: 18,764,502 (GRCm39) L69Q probably damaging Het
Timd4 T A 11: 46,732,974 (GRCm39) probably benign Het
Trh G A 6: 92,220,719 (GRCm39) R48W probably damaging Het
Trip12 C A 1: 84,716,536 (GRCm39) D383Y probably damaging Het
Tspo2 T A 17: 48,757,014 (GRCm39) I23F possibly damaging Het
Tspyl5 A G 15: 33,686,989 (GRCm39) S319P probably damaging Het
Txlnb A G 10: 17,717,201 (GRCm39) K403E probably damaging Het
Vmn2r34 C A 7: 7,675,720 (GRCm39) C556F probably damaging Het
Vps13c C A 9: 67,821,159 (GRCm39) A1223E probably 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
IGL02738:Mmp1a APN 9 7,464,301 (GRCm39) splice site probably benign
IGL02984:Mmp1a UTSW 9 7,465,083 (GRCm38) makesense probably null
IGL02988: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
Predicted Primers PCR Primer
(F):5'- GGAAAACTACTACAACTTGGGC -3'
(R):5'- TGGTGTCACATCACTCCAGAC -3'

Sequencing Primer
(F):5'- TACTACAACTTGGGCAAAAACATG -3'
(R):5'- AGACTCTAAAGGCTCTCGCGATG -3'
Posted On 2017-01-24