Incidental Mutation 'R1837:Mmp1b'
ID 205403
Institutional Source Beutler Lab
Gene Symbol Mmp1b
Ensembl Gene ENSMUSG00000041620
Gene Name matrix metallopeptidase 1b (interstitial collagenase)
Synonyms Mcol-B
MMRRC Submission 039864-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R1837 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 7368239-7388047 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 7386409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 171 (F171I)
Ref Sequence ENSEMBL: ENSMUSP00000047261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047888]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000047888
AA Change: F171I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047261
Gene: ENSMUSG00000041620
AA Change: F171I

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:PG_binding_1 26 84 1.4e-13 PFAM
ZnMc 102 260 3.08e-46 SMART
HX 281 323 4.39e-2 SMART
HX 325 369 3.51e-10 SMART
HX 374 421 1.03e-16 SMART
HX 423 463 1.6e0 SMART
Meta Mutation Damage Score 0.9505 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.6%
Validation Efficiency 99% (86/87)
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. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl10 G T 2: 154,394,962 (GRCm39) G305W probably damaging Het
Actr3b A T 5: 26,030,157 (GRCm39) T74S probably benign Het
Add2 A G 6: 86,095,540 (GRCm39) E652G probably damaging Het
Alg9 T A 9: 50,717,615 (GRCm39) V83D probably damaging Het
Atp13a2 T A 4: 140,721,643 (GRCm39) Y244* probably null Het
BB014433 C G 8: 15,092,629 (GRCm39) V75L unknown Het
Bcr A G 10: 75,003,932 (GRCm39) probably benign Het
Begain G A 12: 109,001,249 (GRCm39) probably benign Het
Bzw1 A G 1: 58,439,277 (GRCm39) K67E probably damaging Het
Ccdc141 T C 2: 76,842,009 (GRCm39) E1474G probably benign Het
Cdc73 T A 1: 143,543,395 (GRCm39) T314S possibly damaging Het
Cfap206 T C 4: 34,728,813 (GRCm39) T31A probably damaging Het
Cfap58 G A 19: 48,017,578 (GRCm39) E813K probably damaging Het
Clstn2 C A 9: 97,465,593 (GRCm39) A133S probably benign Het
Col14a1 A T 15: 55,245,891 (GRCm39) D465V unknown Het
Col2a1 C T 15: 97,894,522 (GRCm39) probably benign Het
Dab2 A G 15: 6,365,957 (GRCm39) probably benign Het
Eme1 T C 11: 94,536,787 (GRCm39) D464G probably benign Het
Eml6 T C 11: 29,699,802 (GRCm39) probably null Het
Ern1 C A 11: 106,349,783 (GRCm39) L44F probably damaging Het
Fam111a T A 19: 12,564,816 (GRCm39) S188R probably benign Het
Fam151b A T 13: 92,610,639 (GRCm39) probably benign Het
Fmo6 T C 1: 162,750,379 (GRCm39) N226D probably benign Het
Ggt1 A G 10: 75,415,128 (GRCm39) D214G probably benign Het
Gm14226 A G 2: 154,866,930 (GRCm39) I296V probably benign Het
Gm9915 A T 1: 42,269,847 (GRCm39) noncoding transcript Het
Heatr5b T C 17: 79,128,180 (GRCm39) D485G possibly damaging Het
Helz2 A T 2: 180,871,082 (GRCm39) I2785N probably damaging Het
Htt C T 5: 34,976,367 (GRCm39) T723M probably benign Het
Hydin C A 8: 111,296,257 (GRCm39) H3595Q probably benign Het
Il6ra T C 3: 89,797,579 (GRCm39) D96G probably benign Het
Kif5a G A 10: 127,072,684 (GRCm39) Q702* probably null Het
Klhdc7a G T 4: 139,694,381 (GRCm39) P189T probably benign Het
Krt7 A G 15: 101,317,463 (GRCm39) D252G probably benign Het
Lad1 C A 1: 135,757,444 (GRCm39) D394E probably benign Het
Lhx8 A T 3: 154,033,692 (GRCm39) C38S possibly damaging Het
Lta4h C T 10: 93,305,037 (GRCm39) T280M probably damaging Het
Magi2 A T 5: 20,670,825 (GRCm39) T163S probably damaging Het
Med1 G T 11: 98,060,238 (GRCm39) D230E probably damaging Het
Mprip T C 11: 59,657,571 (GRCm39) V801A probably damaging Het
Mtrf1 A G 14: 79,639,273 (GRCm39) E135G possibly damaging Het
Muc5ac T A 7: 141,360,823 (GRCm39) M1378K probably benign Het
Myo3a A T 2: 22,467,604 (GRCm39) Q286L possibly damaging Het
Ndor1 C T 2: 25,138,408 (GRCm39) G391R probably damaging Het
Nefl C T 14: 68,324,075 (GRCm39) R438C probably damaging Het
Nlrp3 G A 11: 59,439,742 (GRCm39) V440I probably benign Het
Notch3 A T 17: 32,343,296 (GRCm39) L1959Q probably damaging Het
Noto A G 6: 85,401,159 (GRCm39) T63A probably benign Het
Oc90 G A 15: 65,761,529 (GRCm39) T163M probably damaging Het
Or1l4 T A 2: 37,092,114 (GRCm39) M287K probably benign Het
Or4c114 A T 2: 88,905,176 (GRCm39) Y86* probably null Het
Or5an10 A G 19: 12,275,740 (GRCm39) V252A probably damaging Het
Pdpr C A 8: 111,861,366 (GRCm39) P787T probably damaging Het
Phlda1 A G 10: 111,343,092 (GRCm39) Q276R probably benign Het
Ptpn21 T G 12: 98,699,885 (GRCm39) K10Q probably damaging Het
Ptprb A G 10: 116,177,531 (GRCm39) E1364G probably benign Het
Rabep1 T A 11: 70,795,484 (GRCm39) W237R probably damaging Het
Rai1 A T 11: 60,080,224 (GRCm39) K1429N probably damaging Het
Rapgef1 A G 2: 29,627,438 (GRCm39) I1027M probably damaging Het
Rit1 C G 3: 88,636,477 (GRCm39) T127S probably damaging Het
Rpap1 A C 2: 119,600,366 (GRCm39) probably null Het
Senp7 T A 16: 55,978,879 (GRCm39) C471S probably benign Het
Slc16a14 A G 1: 84,890,120 (GRCm39) V395A probably benign Het
Slc45a1 C T 4: 150,722,916 (GRCm39) G323S probably benign Het
Syne2 A T 12: 76,014,434 (GRCm39) E3208D probably damaging Het
Tap1 C T 17: 34,407,083 (GRCm39) A77V possibly damaging Het
Ticam1 T C 17: 56,577,799 (GRCm39) E432G possibly damaging Het
Tmem192 C A 8: 65,416,992 (GRCm39) probably benign Het
Trub1 T C 19: 57,441,461 (GRCm39) V28A probably benign Het
Ttc21b A T 2: 66,028,106 (GRCm39) L1121H probably benign Het
Ttc38 A G 15: 85,735,764 (GRCm39) D290G probably damaging Het
Ulk1 C T 5: 110,937,247 (GRCm39) G683D probably damaging Het
Vmn1r122 A T 7: 20,867,291 (GRCm39) F255I probably benign Het
Vmn2r68 T A 7: 84,882,886 (GRCm39) I289F probably damaging Het
Vps39 A T 2: 120,155,878 (GRCm39) L514H probably damaging Het
Wdr48 T G 9: 119,734,482 (GRCm39) S134A probably damaging Het
Yap1 A T 9: 7,962,350 (GRCm39) Y139N probably damaging Het
Ylpm1 T C 12: 85,076,107 (GRCm39) V486A possibly damaging Het
Zbtb38 T C 9: 96,569,048 (GRCm39) T679A probably benign Het
Zfp292 A G 4: 34,810,264 (GRCm39) S927P probably damaging Het
Zfp324 C T 7: 12,704,156 (GRCm39) T115I probably benign Het
Zfp523 T A 17: 28,413,967 (GRCm39) I34N probably damaging Het
Zfp945 A T 17: 23,070,247 (GRCm39) C551S probably damaging Het
Zfp958 A G 8: 4,678,590 (GRCm39) H205R probably damaging Het
Zfp974 G A 7: 27,609,781 (GRCm39) P648L possibly damaging Het
Other mutations in Mmp1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Mmp1b APN 9 7,387,946 (GRCm39) missense probably benign 0.00
IGL00339:Mmp1b APN 9 7,368,304 (GRCm39) missense probably benign 0.19
IGL00832:Mmp1b APN 9 7,387,023 (GRCm39) missense possibly damaging 0.81
IGL01110:Mmp1b APN 9 7,384,921 (GRCm39) missense probably benign 0.02
IGL02121:Mmp1b APN 9 7,384,935 (GRCm39) missense probably benign 0.22
IGL02143:Mmp1b APN 9 7,386,400 (GRCm39) missense probably benign 0.10
IGL02698:Mmp1b APN 9 7,384,877 (GRCm39) missense probably damaging 1.00
IGL02928:Mmp1b APN 9 7,368,242 (GRCm39) makesense probably null
IGL03218:Mmp1b APN 9 7,387,907 (GRCm39) missense probably benign 0.07
IGL03304:Mmp1b APN 9 7,384,701 (GRCm39) missense probably damaging 1.00
IGL02802:Mmp1b UTSW 9 7,384,709 (GRCm39) missense probably benign 0.08
R0122:Mmp1b UTSW 9 7,386,689 (GRCm39) missense probably damaging 0.99
R0506:Mmp1b UTSW 9 7,387,013 (GRCm39) missense possibly damaging 0.52
R0600:Mmp1b UTSW 9 7,387,947 (GRCm39) missense possibly damaging 0.55
R1454:Mmp1b UTSW 9 7,386,693 (GRCm39) missense probably damaging 1.00
R1466:Mmp1b UTSW 9 7,384,779 (GRCm39) splice site probably benign
R1696:Mmp1b UTSW 9 7,386,699 (GRCm39) missense probably damaging 0.99
R1986:Mmp1b UTSW 9 7,368,577 (GRCm39) missense probably benign 0.01
R2031:Mmp1b UTSW 9 7,368,607 (GRCm39) missense possibly damaging 0.68
R2098:Mmp1b UTSW 9 7,386,984 (GRCm39) missense probably benign 0.03
R2107:Mmp1b UTSW 9 7,369,310 (GRCm39) missense probably damaging 1.00
R2847:Mmp1b UTSW 9 7,370,763 (GRCm39) missense probably benign 0.05
R2870:Mmp1b UTSW 9 7,386,875 (GRCm39) synonymous silent
R3944:Mmp1b UTSW 9 7,384,708 (GRCm39) missense possibly damaging 0.73
R4654:Mmp1b UTSW 9 7,370,849 (GRCm39) missense probably benign 0.18
R4829:Mmp1b UTSW 9 7,370,729 (GRCm39) critical splice donor site probably null
R5329:Mmp1b UTSW 9 7,384,897 (GRCm39) missense possibly damaging 0.61
R5332:Mmp1b UTSW 9 7,384,897 (GRCm39) missense possibly damaging 0.61
R5333:Mmp1b UTSW 9 7,384,897 (GRCm39) missense possibly damaging 0.61
R5418:Mmp1b UTSW 9 7,384,897 (GRCm39) missense possibly damaging 0.61
R5419:Mmp1b UTSW 9 7,384,897 (GRCm39) missense possibly damaging 0.61
R5420:Mmp1b UTSW 9 7,384,897 (GRCm39) missense possibly damaging 0.61
R6053:Mmp1b UTSW 9 7,385,031 (GRCm39) missense probably benign 0.07
R6394:Mmp1b UTSW 9 7,386,316 (GRCm39) missense probably benign 0.20
R6774:Mmp1b UTSW 9 7,387,914 (GRCm39) missense probably benign 0.00
R6842:Mmp1b UTSW 9 7,384,888 (GRCm39) missense probably damaging 1.00
R7092:Mmp1b UTSW 9 7,386,981 (GRCm39) missense probably damaging 1.00
R7146:Mmp1b UTSW 9 7,385,014 (GRCm39) missense probably damaging 1.00
R7549:Mmp1b UTSW 9 7,384,753 (GRCm39) missense probably benign 0.21
R7658:Mmp1b UTSW 9 7,386,675 (GRCm39) missense possibly damaging 0.59
R8952:Mmp1b UTSW 9 7,386,346 (GRCm39) missense possibly damaging 0.81
R9036:Mmp1b UTSW 9 7,387,909 (GRCm39) missense probably null 0.25
R9349:Mmp1b UTSW 9 7,369,271 (GRCm39) missense probably benign 0.01
Z1177:Mmp1b UTSW 9 7,369,322 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ACTGCAGTCCCAGGATTCTC -3'
(R):5'- ACCTCTTTTGCTTTGTAGGAAGAG -3'

Sequencing Primer
(F):5'- GCAGTCCCAGGATTCTCAATGTG -3'
(R):5'- GAGTTCCTTGTTGAAGAACATTATTG -3'
Posted On 2014-06-23