Incidental Mutation 'IGL03240:Mmp21'
ID414217
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp21
Ensembl Gene ENSMUSG00000030981
Gene Namematrix metallopeptidase 21
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL03240
Quality Score
Status
Chromosome7
Chromosomal Location133674270-133680061 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 133674571 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 514 (H514Q)
Ref Sequence ENSEMBL: ENSMUSP00000033278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033278] [ENSMUST00000051169] [ENSMUST00000122136] [ENSMUST00000128901]
Predicted Effect probably damaging
Transcript: ENSMUST00000033278
AA Change: H514Q

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033278
Gene: ENSMUSG00000030981
AA Change: H514Q

DomainStartEndE-ValueType
Pfam:PG_binding_1 46 107 5.6e-13 PFAM
low complexity region 117 133 N/A INTRINSIC
ZnMc 166 327 2.67e-32 SMART
HX 332 390 1.97e-1 SMART
HX 393 448 5.36e-6 SMART
HX 450 497 9.33e-6 SMART
HX 505 548 1.11e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000051169
SMART Domains Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990

DomainStartEndE-ValueType
low complexity region 8 29 N/A INTRINSIC
low complexity region 116 128 N/A INTRINSIC
low complexity region 219 237 N/A INTRINSIC
low complexity region 254 264 N/A INTRINSIC
low complexity region 467 477 N/A INTRINSIC
low complexity region 529 549 N/A INTRINSIC
low complexity region 1171 1184 N/A INTRINSIC
low complexity region 1229 1237 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122136
SMART Domains Protein: ENSMUSP00000113853
Gene: ENSMUSG00000030981

DomainStartEndE-ValueType
Pfam:PG_binding_1 46 107 1.9e-13 PFAM
low complexity region 117 133 N/A INTRINSIC
ZnMc 166 327 2.67e-32 SMART
Pfam:Hemopexin 351 390 4.7e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128901
SMART Domains Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990

DomainStartEndE-ValueType
low complexity region 8 29 N/A INTRINSIC
low complexity region 116 128 N/A INTRINSIC
low complexity region 219 237 N/A INTRINSIC
low complexity region 254 264 N/A INTRINSIC
low complexity region 433 443 N/A INTRINSIC
low complexity region 495 515 N/A INTRINSIC
low complexity region 1137 1150 N/A INTRINSIC
low complexity region 1195 1203 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137338
Predicted Effect probably benign
Transcript: ENSMUST00000176661
SMART Domains Protein: ENSMUSP00000134967
Gene: ENSMUSG00000039990

DomainStartEndE-ValueType
low complexity region 116 124 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211072
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. Mice harboring certain mutations in this gene exhibit congenital heart defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit heterotaxia and congenital cardiovascular defects including d-loop transposition of the great arteries, tricupid valve atresia, and ventricular septal defect. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,556,716 probably benign Het
AA467197 A G 2: 122,639,262 T57A probably benign Het
Akap11 A T 14: 78,495,905 D1852E probably damaging Het
Arg2 T A 12: 79,131,831 probably null Het
Arhgef4 A G 1: 34,806,026 D1437G probably benign Het
AW551984 C A 9: 39,589,122 R780L probably benign Het
Baz1a T A 12: 54,927,567 K503* probably null Het
Cdk2ap1 A T 5: 124,346,144 H96Q probably damaging Het
Col11a1 T A 3: 114,217,210 probably null Het
Col12a1 A T 9: 79,678,383 probably null Het
Col22a1 G A 15: 71,807,928 P877S unknown Het
Col7a1 A T 9: 108,968,373 N1681Y probably null Het
Dennd1b T G 1: 139,139,392 S398A possibly damaging Het
Fam126b A G 1: 58,529,917 L501P probably damaging Het
Fam129b A C 2: 32,922,097 Y397S probably benign Het
Fgd2 C T 17: 29,361,161 probably benign Het
Hadh T C 3: 131,248,543 S98G probably benign Het
Has2 C T 15: 56,668,260 R353H probably damaging Het
Heg1 T C 16: 33,727,413 S857P probably benign Het
Hemgn T A 4: 46,400,732 R43* probably null Het
Htr4 A T 18: 62,437,621 H249L possibly damaging Het
Iqgap3 T C 3: 88,114,974 S495P probably benign Het
Kars T C 8: 112,005,639 D99G probably benign Het
Krt40 T A 11: 99,537,568 S333C probably damaging Het
Lamc2 T C 1: 153,124,125 I1163V probably damaging Het
Lrrn2 A T 1: 132,938,327 I377F possibly damaging Het
Mcm5 T A 8: 75,115,902 I268N probably damaging Het
Mtcl1 G A 17: 66,338,019 P1478S probably damaging Het
Mybbp1a A G 11: 72,445,666 T495A possibly damaging Het
Myo10 T A 15: 25,701,602 V21E probably damaging Het
Nap1l4 A G 7: 143,538,245 S49P probably benign Het
Ncoa2 G A 1: 13,177,092 S369F probably damaging Het
Olfr1009 A T 2: 85,722,331 K309* probably null Het
Pon2 A G 6: 5,265,316 probably benign Het
Ppdpf T C 2: 181,187,880 S43P probably benign Het
Psmd6 A G 14: 14,112,393 probably benign Het
Ptprk G T 10: 28,492,961 R643L probably damaging Het
Ptprq T A 10: 107,688,507 Y455F probably benign Het
Sec23b G A 2: 144,566,759 probably benign Het
Sh3pxd2a A G 19: 47,268,026 L751P probably damaging Het
Snx6 T A 12: 54,783,443 H77L probably damaging Het
Svep1 C A 4: 58,048,188 C3472F possibly damaging Het
Trpd52l3 A T 19: 30,003,996 E50D probably damaging Het
Ttc33 A G 15: 5,217,328 D205G probably damaging Het
Tubgcp3 A T 8: 12,649,797 V352E probably benign Het
Tulp2 T G 7: 45,522,310 F436C probably damaging Het
Uhrf1bp1 C A 17: 27,893,253 N1167K probably benign Het
Vmn1r123 T A 7: 21,162,357 M58K possibly damaging Het
Vmn2r113 T C 17: 22,955,957 V514A probably benign Het
Vps13c T C 9: 67,955,047 V2982A probably benign Het
Ywhaq T C 12: 21,395,000 T215A possibly damaging Het
Zfp677 A T 17: 21,396,873 H64L probably damaging Het
Other mutations in Mmp21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01868:Mmp21 APN 7 133675914 missense probably damaging 1.00
IGL02822:Mmp21 APN 7 133676099 missense possibly damaging 0.80
IGL03261:Mmp21 APN 7 133674674 missense probably benign 0.01
R0659:Mmp21 UTSW 7 133677667 splice site probably benign
R1037:Mmp21 UTSW 7 133674453 missense probably benign 0.16
R1463:Mmp21 UTSW 7 133675859 splice site probably null
R1523:Mmp21 UTSW 7 133679045 missense probably benign
R1710:Mmp21 UTSW 7 133677285 missense probably damaging 1.00
R1804:Mmp21 UTSW 7 133678882 missense probably benign 0.01
R1848:Mmp21 UTSW 7 133677153 missense probably benign 0.05
R2993:Mmp21 UTSW 7 133678986 missense probably damaging 1.00
R3431:Mmp21 UTSW 7 133678750 missense probably benign 0.00
R4790:Mmp21 UTSW 7 133675030 missense probably damaging 1.00
R4870:Mmp21 UTSW 7 133678677 missense probably damaging 1.00
R5134:Mmp21 UTSW 7 133679013 missense probably benign 0.00
R5347:Mmp21 UTSW 7 133675922 missense probably benign
R5682:Mmp21 UTSW 7 133674629 missense probably benign 0.00
R5905:Mmp21 UTSW 7 133678714 missense probably benign 0.17
R6028:Mmp21 UTSW 7 133678714 missense probably benign 0.17
R6936:Mmp21 UTSW 7 133678975 missense probably benign 0.01
R7657:Mmp21 UTSW 7 133678833 missense probably benign 0.00
R7702:Mmp21 UTSW 7 133679062 missense probably damaging 1.00
R7786:Mmp21 UTSW 7 133675035 missense probably benign
Z1177:Mmp21 UTSW 7 133674933 missense probably damaging 1.00
Posted On2016-08-02