Incidental Mutation 'IGL03240:Mmp21'
ID 414217
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp21
Ensembl Gene ENSMUSG00000030981
Gene Name matrix metallopeptidase 21
Synonyms b2b2458Clo, b2b873Clo
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL03240
Quality Score
Status
Chromosome 7
Chromosomal Location 133275999-133281790 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 133276300 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8K3F2
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 noncoding transcript
Transcript: ENSMUST00000211072
Predicted Effect probably benign
Transcript: ENSMUST00000176661
SMART Domains Protein: ENSMUSP00000134967
Gene: ENSMUSG00000039990

DomainStartEndE-ValueType
low complexity region 116 124 N/A INTRINSIC
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: 124,350,365 (GRCm39) probably benign Het
AA467197 A G 2: 122,481,182 (GRCm39) T57A probably benign Het
Akap11 A T 14: 78,733,345 (GRCm39) D1852E probably damaging Het
Arg2 T A 12: 79,178,605 (GRCm39) probably null Het
Arhgef4 A G 1: 34,845,107 (GRCm39) D1437G probably benign Het
AW551984 C A 9: 39,500,418 (GRCm39) R780L probably benign Het
Baz1a T A 12: 54,974,352 (GRCm39) K503* probably null Het
Bltp3a C A 17: 28,112,227 (GRCm39) N1167K probably benign Het
Cdk2ap1 A T 5: 124,484,207 (GRCm39) H96Q probably damaging Het
Col11a1 T A 3: 114,010,859 (GRCm39) probably null Het
Col12a1 A T 9: 79,585,665 (GRCm39) probably null Het
Col22a1 G A 15: 71,679,777 (GRCm39) P877S unknown Het
Col7a1 A T 9: 108,797,441 (GRCm39) N1681Y probably null Het
Dennd1b T G 1: 139,067,130 (GRCm39) S398A possibly damaging Het
Fgd2 C T 17: 29,580,135 (GRCm39) probably benign Het
Hadh T C 3: 131,042,192 (GRCm39) S98G probably benign Het
Has2 C T 15: 56,531,656 (GRCm39) R353H probably damaging Het
Heg1 T C 16: 33,547,783 (GRCm39) S857P probably benign Het
Hemgn T A 4: 46,400,732 (GRCm39) R43* probably null Het
Htr4 A T 18: 62,570,692 (GRCm39) H249L possibly damaging Het
Hycc2 A G 1: 58,569,076 (GRCm39) L501P probably damaging Het
Iqgap3 T C 3: 88,022,281 (GRCm39) S495P probably benign Het
Kars1 T C 8: 112,732,271 (GRCm39) D99G probably benign Het
Krt40 T A 11: 99,428,394 (GRCm39) S333C probably damaging Het
Lamc2 T C 1: 152,999,871 (GRCm39) I1163V probably damaging Het
Lrrn2 A T 1: 132,866,065 (GRCm39) I377F possibly damaging Het
Mcm5 T A 8: 75,842,530 (GRCm39) I268N probably damaging Het
Mtcl1 G A 17: 66,645,014 (GRCm39) P1478S probably damaging Het
Mybbp1a A G 11: 72,336,492 (GRCm39) T495A possibly damaging Het
Myo10 T A 15: 25,701,688 (GRCm39) V21E probably damaging Het
Nap1l4 A G 7: 143,091,982 (GRCm39) S49P probably benign Het
Ncoa2 G A 1: 13,247,316 (GRCm39) S369F probably damaging Het
Niban2 A C 2: 32,812,109 (GRCm39) Y397S probably benign Het
Or5g9 A T 2: 85,552,675 (GRCm39) K309* probably null Het
Pon2 A G 6: 5,265,316 (GRCm39) probably benign Het
Ppdpf T C 2: 180,829,673 (GRCm39) S43P probably benign Het
Psmd6 A G 14: 14,112,393 (GRCm38) probably benign Het
Ptprk G T 10: 28,368,957 (GRCm39) R643L probably damaging Het
Ptprq T A 10: 107,524,368 (GRCm39) Y455F probably benign Het
Sec23b G A 2: 144,408,679 (GRCm39) probably benign Het
Sh3pxd2a A G 19: 47,256,465 (GRCm39) L751P probably damaging Het
Snx6 T A 12: 54,830,228 (GRCm39) H77L probably damaging Het
Svep1 C A 4: 58,048,188 (GRCm39) C3472F possibly damaging Het
Trpd52l3 A T 19: 29,981,396 (GRCm39) E50D probably damaging Het
Ttc33 A G 15: 5,246,809 (GRCm39) D205G probably damaging Het
Tubgcp3 A T 8: 12,699,797 (GRCm39) V352E probably benign Het
Tulp2 T G 7: 45,171,734 (GRCm39) F436C probably damaging Het
Vmn1r123 T A 7: 20,896,282 (GRCm39) M58K possibly damaging Het
Vmn2r113 T C 17: 23,174,931 (GRCm39) V514A probably benign Het
Vps13c T C 9: 67,862,329 (GRCm39) V2982A probably benign Het
Ywhaq T C 12: 21,445,001 (GRCm39) T215A possibly damaging Het
Zfp677 A T 17: 21,617,135 (GRCm39) H64L probably damaging Het
Other mutations in Mmp21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01868:Mmp21 APN 7 133,277,643 (GRCm39) missense probably damaging 1.00
IGL02822:Mmp21 APN 7 133,277,828 (GRCm39) missense possibly damaging 0.80
IGL03261:Mmp21 APN 7 133,276,403 (GRCm39) missense probably benign 0.01
R0659:Mmp21 UTSW 7 133,279,396 (GRCm39) splice site probably benign
R1037:Mmp21 UTSW 7 133,276,182 (GRCm39) missense probably benign 0.16
R1463:Mmp21 UTSW 7 133,277,588 (GRCm39) splice site probably null
R1523:Mmp21 UTSW 7 133,280,774 (GRCm39) missense probably benign
R1710:Mmp21 UTSW 7 133,279,014 (GRCm39) missense probably damaging 1.00
R1804:Mmp21 UTSW 7 133,280,611 (GRCm39) missense probably benign 0.01
R1848:Mmp21 UTSW 7 133,278,882 (GRCm39) missense probably benign 0.05
R2993:Mmp21 UTSW 7 133,280,715 (GRCm39) missense probably damaging 1.00
R3431:Mmp21 UTSW 7 133,280,479 (GRCm39) missense probably benign 0.00
R4790:Mmp21 UTSW 7 133,276,759 (GRCm39) missense probably damaging 1.00
R4870:Mmp21 UTSW 7 133,280,406 (GRCm39) missense probably damaging 1.00
R5134:Mmp21 UTSW 7 133,280,742 (GRCm39) missense probably benign 0.00
R5347:Mmp21 UTSW 7 133,277,651 (GRCm39) missense probably benign
R5682:Mmp21 UTSW 7 133,276,358 (GRCm39) missense probably benign 0.00
R5905:Mmp21 UTSW 7 133,280,443 (GRCm39) missense probably benign 0.17
R6028:Mmp21 UTSW 7 133,280,443 (GRCm39) missense probably benign 0.17
R6936:Mmp21 UTSW 7 133,280,704 (GRCm39) missense probably benign 0.01
R7657:Mmp21 UTSW 7 133,280,562 (GRCm39) missense probably benign 0.00
R7702:Mmp21 UTSW 7 133,280,791 (GRCm39) missense probably damaging 1.00
R7786:Mmp21 UTSW 7 133,276,764 (GRCm39) missense probably benign
R8922:Mmp21 UTSW 7 133,276,000 (GRCm39) unclassified probably benign
R8937:Mmp21 UTSW 7 133,280,700 (GRCm39) missense probably benign 0.03
R8989:Mmp21 UTSW 7 133,276,746 (GRCm39) missense probably damaging 1.00
Z1177:Mmp21 UTSW 7 133,276,662 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02