Incidental Mutation 'IGL02698:Mmp1b'
ID304024
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp1b
Ensembl Gene ENSMUSG00000041620
Gene Namematrix metallopeptidase 1b (interstitial collagenase)
SynonymsMcol-B
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL02698
Quality Score
Status
Chromosome9
Chromosomal Location7368239-7388047 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 7384877 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 257 (L257F)
Ref Sequence ENSEMBL: ENSMUSP00000047261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047888]
Predicted Effect probably damaging
Transcript: ENSMUST00000047888
AA Change: L257F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047261
Gene: ENSMUSG00000041620
AA Change: L257F

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
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. 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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpp21 T A 9: 112,185,744 probably benign Het
Car8 A T 4: 8,185,598 I186N probably benign Het
Ccdc174 G A 6: 91,890,853 S183N probably benign Het
Ccdc66 T A 14: 27,490,792 K525* probably null Het
Cebpz A G 17: 78,935,574 V217A probably benign Het
Cfap36 C A 11: 29,247,014 probably null Het
Cpne4 T C 9: 105,032,785 V527A probably damaging Het
Crh T G 3: 19,694,190 D96A possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dcp1a A T 14: 30,505,542 probably benign Het
Ddhd1 A T 14: 45,605,206 probably benign Het
Dis3l2 C T 1: 87,048,829 probably benign Het
Dopey1 T C 9: 86,524,359 probably benign Het
Etv3 A G 3: 87,536,578 T490A possibly damaging Het
Fastkd2 A G 1: 63,747,999 T531A probably benign Het
Fat1 C T 8: 45,023,164 A1749V probably benign Het
Fgfr1 T A 8: 25,573,608 L761* probably null Het
Gcc2 A G 10: 58,271,290 K683E possibly damaging Het
Gm17677 T C 9: 35,741,120 probably benign Het
Gm5117 C T 8: 31,739,739 noncoding transcript Het
Hif1a T C 12: 73,930,771 probably null Het
Inha A G 1: 75,509,883 E274G probably damaging Het
Itih2 G T 2: 10,130,501 P26H probably damaging Het
Kif23 G A 9: 61,925,001 T620I possibly damaging Het
Klhl30 T C 1: 91,353,707 F10S probably damaging Het
Kmt2b T C 7: 30,578,693 probably benign Het
Lmf2 A C 15: 89,354,154 L174R probably damaging Het
Med13l T C 5: 118,762,829 L2216P probably damaging Het
Net1 A G 13: 3,887,569 probably null Het
Nfasc A G 1: 132,634,737 V100A probably benign Het
Nr4a2 A G 2: 57,108,160 F535S probably damaging Het
Ntn4 G T 10: 93,644,659 A45S probably benign Het
Olfr1141 T A 2: 87,753,844 K50* probably null Het
Olfr1197 T A 2: 88,729,471 I43F probably damaging Het
Olfr1386 T A 11: 49,470,863 F237L probably benign Het
Olfr243 T C 7: 103,717,278 V228A probably damaging Het
Olfr25 A G 9: 38,330,210 T208A probably benign Het
Pappa A T 4: 65,181,020 E592V probably damaging Het
Pi4ka A T 16: 17,291,168 I1630N probably damaging Het
Ptprb A G 10: 116,363,280 D1997G probably benign Het
Rc3h2 A T 2: 37,405,300 S235T probably damaging Het
S1pr1 T A 3: 115,712,097 K283* probably null Het
Scn5a T A 9: 119,521,097 T904S probably damaging Het
Sema6d T C 2: 124,653,723 L30P possibly damaging Het
Slc26a7 A C 4: 14,593,867 S83A possibly damaging Het
Slco1a6 C A 6: 142,103,011 G348* probably null Het
Srgap3 C T 6: 112,746,928 V524I probably damaging Het
Stxbp3-ps A T 19: 9,558,324 noncoding transcript Het
Sv2b C T 7: 75,140,978 probably null Het
Sympk T C 7: 19,045,634 I663T probably benign Het
Ttn C A 2: 76,944,771 V1976L probably damaging Het
Uqcrc1 T C 9: 108,947,943 probably null Het
Vmn2r111 T C 17: 22,571,245 Y260C probably damaging Het
Other mutations in Mmp1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Mmp1b APN 9 7387946 missense probably benign 0.00
IGL00339:Mmp1b APN 9 7368304 missense probably benign 0.19
IGL00832:Mmp1b APN 9 7387023 missense possibly damaging 0.81
IGL01110:Mmp1b APN 9 7384921 missense probably benign 0.02
IGL02121:Mmp1b APN 9 7384935 missense probably benign 0.22
IGL02143:Mmp1b APN 9 7386400 missense probably benign 0.10
IGL02928:Mmp1b APN 9 7368242 makesense probably null
IGL03218:Mmp1b APN 9 7387907 missense probably benign 0.07
IGL03304:Mmp1b APN 9 7384701 missense probably damaging 1.00
IGL02802:Mmp1b UTSW 9 7384709 missense probably benign 0.08
R0122:Mmp1b UTSW 9 7386689 missense probably damaging 0.99
R0506:Mmp1b UTSW 9 7387013 missense possibly damaging 0.52
R0600:Mmp1b UTSW 9 7387947 missense possibly damaging 0.55
R1454:Mmp1b UTSW 9 7386693 missense probably damaging 1.00
R1466:Mmp1b UTSW 9 7384779 splice site probably benign
R1696:Mmp1b UTSW 9 7386699 missense probably damaging 0.99
R1837:Mmp1b UTSW 9 7386409 missense probably damaging 1.00
R1986:Mmp1b UTSW 9 7368577 missense probably benign 0.01
R2031:Mmp1b UTSW 9 7368607 missense possibly damaging 0.68
R2098:Mmp1b UTSW 9 7386984 missense probably benign 0.03
R2107:Mmp1b UTSW 9 7369310 missense probably damaging 1.00
R2847:Mmp1b UTSW 9 7370763 missense probably benign 0.05
R2870:Mmp1b UTSW 9 7386875 synonymous silent
R3944:Mmp1b UTSW 9 7384708 missense possibly damaging 0.73
R4654:Mmp1b UTSW 9 7370849 missense probably benign 0.18
R4829:Mmp1b UTSW 9 7370729 critical splice donor site probably null
R5329:Mmp1b UTSW 9 7384897 missense possibly damaging 0.61
R5332:Mmp1b UTSW 9 7384897 missense possibly damaging 0.61
R5333:Mmp1b UTSW 9 7384897 missense possibly damaging 0.61
R5418:Mmp1b UTSW 9 7384897 missense possibly damaging 0.61
R5419:Mmp1b UTSW 9 7384897 missense possibly damaging 0.61
R5420:Mmp1b UTSW 9 7384897 missense possibly damaging 0.61
R6053:Mmp1b UTSW 9 7385031 missense probably benign 0.07
R6394:Mmp1b UTSW 9 7386316 missense probably benign 0.20
R6774:Mmp1b UTSW 9 7387914 missense probably benign 0.00
R6842:Mmp1b UTSW 9 7384888 missense probably damaging 1.00
R7092:Mmp1b UTSW 9 7386981 missense probably damaging 1.00
R7146:Mmp1b UTSW 9 7385014 missense probably damaging 1.00
Posted On2015-04-16