Incidental Mutation 'R8000:Mmp1a'
ID 616325
Institutional Source Beutler Lab
Gene Symbol Mmp1a
Ensembl Gene ENSMUSG00000043089
Gene Name matrix metallopeptidase 1a (interstitial collagenase)
Synonyms Mcol-A
MMRRC Submission 046040-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.281) question?
Stock # R8000 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 7464141-7476857 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 7476215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 437 (H437Q)
Ref Sequence ENSEMBL: ENSMUSP00000034492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034492] [ENSMUST00000217651]
AlphaFold Q9EPL5
Predicted Effect probably benign
Transcript: ENSMUST00000034492
AA Change: H437Q

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034492
Gene: ENSMUSG00000043089
AA Change: H437Q

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 unknown
Transcript: ENSMUST00000217651
AA Change: T438N
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 59,924,796 (GRCm39) K121R possibly damaging Het
Acaca A G 11: 84,283,057 (GRCm39) K2208E possibly damaging Het
Actn1 A G 12: 80,245,782 (GRCm39) F134L probably damaging Het
Akt3 A T 1: 176,877,763 (GRCm39) V335D probably damaging Het
Arhgef10 T G 8: 14,980,054 (GRCm39) I98S probably damaging Het
Celf4 T C 18: 25,637,574 (GRCm39) N209S probably benign Het
Col4a4 G A 1: 82,519,018 (GRCm39) P59L unknown Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
Dock4 T A 12: 40,883,118 (GRCm39) L1642I probably benign Het
Fads2b A G 2: 85,349,070 (GRCm39) V14A probably benign Het
Fap A G 2: 62,333,142 (GRCm39) probably null Het
Fbh1 A T 2: 11,772,100 (GRCm39) Y194N probably benign Het
Fras1 A G 5: 96,910,536 (GRCm39) T3322A probably damaging Het
Frey1 A G 2: 92,215,872 (GRCm39) K69E unknown Het
Gabra4 A G 5: 71,781,304 (GRCm39) F369S probably damaging Het
Igkv9-124 T A 6: 67,919,136 (GRCm39) D92V probably damaging Het
Kcna6 C A 6: 126,715,948 (GRCm39) E314* probably null Het
Kyat1 A C 2: 30,082,065 (GRCm39) S25A probably benign Het
Lars2 G A 9: 123,265,309 (GRCm39) G455D probably damaging Het
Mertk A G 2: 128,613,418 (GRCm39) H478R probably benign Het
Mier1 A T 4: 102,988,240 (GRCm39) T83S probably damaging Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Neb G T 2: 52,178,856 (GRCm39) A1300D probably damaging Het
Nell2 T A 15: 95,333,155 (GRCm39) L167F probably damaging Het
Or10h1 G C 17: 33,418,321 (GRCm39) A100P probably damaging Het
Or12j2 T A 7: 139,916,255 (GRCm39) M160K possibly damaging Het
Or4d10c T C 19: 12,065,358 (GRCm39) D266G probably damaging Het
Pald1 T C 10: 61,183,218 (GRCm39) T339A probably benign Het
Pex13 A C 11: 23,605,915 (GRCm39) L105W probably damaging Het
Prxl2a A C 14: 40,716,483 (GRCm39) *230G probably null Het
Ptprd A C 4: 75,984,479 (GRCm39) F556V possibly damaging Het
Rgp1 T A 4: 43,581,664 (GRCm39) C314S probably benign Het
Rnaseh2a G A 8: 85,692,678 (GRCm39) probably benign Het
Rpl7 A T 1: 16,172,949 (GRCm39) M154K probably benign Het
Samd9l A T 6: 3,373,034 (GRCm39) L1409Q probably damaging Het
Slc35f3 A G 8: 127,047,812 (GRCm39) T51A probably benign Het
Slc7a10 A G 7: 34,899,865 (GRCm39) Y76C Het
Slk G T 19: 47,597,344 (GRCm39) A51S Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Stk38 A T 17: 29,211,422 (GRCm39) V51E probably benign Het
Tecta A T 9: 42,278,480 (GRCm39) C1009* probably null Het
Vmn1r228 A T 17: 20,997,227 (GRCm39) M97K possibly damaging Het
Xpo4 T C 14: 57,827,403 (GRCm39) D931G probably damaging Het
Zfp503 T C 14: 22,036,227 (GRCm39) T230A 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
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
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
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'- GACTTCCCTGGAATTGATGATAAAG -3'
(R):5'- ATGTATCAGCACTTCTGGAAGG -3'

Sequencing Primer
(F):5'- CCCTGGAATTGATGATAAAGTTGATG -3'
(R):5'- CAGCACTTCTGGAAGGTAAATAAAAC -3'
Posted On 2020-01-23