Incidental Mutation 'IGL03292:Timp1'
ID 415927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Timp1
Ensembl Gene ENSMUSG00000001131
Gene Name tissue inhibitor of metalloproteinase 1
Synonyms Clgi, TIMP-1
Accession Numbers
Essential gene? Not available question?
Stock # IGL03292
Quality Score
Status
Chromosome X
Chromosomal Location 20736405-20740974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20739057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 56 (T56A)
Ref Sequence ENSEMBL: ENSMUSP00000110999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009530] [ENSMUST00000081893] [ENSMUST00000115342] [ENSMUST00000115345]
AlphaFold P12032
Predicted Effect probably benign
Transcript: ENSMUST00000009530
AA Change: T56A

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000009530
Gene: ENSMUSG00000001131
AA Change: T56A

DomainStartEndE-ValueType
NTR 25 199 1.02e-133 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000081893
SMART Domains Protein: ENSMUSP00000080568
Gene: ENSMUSG00000037217

DomainStartEndE-ValueType
Pfam:Synapsin_N 1 32 1.3e-23 PFAM
low complexity region 87 94 N/A INTRINSIC
Pfam:Synapsin 111 212 7.8e-47 PFAM
Pfam:Synapsin_C 214 416 3.2e-124 PFAM
low complexity region 427 440 N/A INTRINSIC
low complexity region 450 491 N/A INTRINSIC
low complexity region 493 505 N/A INTRINSIC
low complexity region 509 524 N/A INTRINSIC
low complexity region 533 563 N/A INTRINSIC
low complexity region 579 600 N/A INTRINSIC
low complexity region 608 636 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115342
AA Change: T56A

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110999
Gene: ENSMUSG00000001131
AA Change: T56A

DomainStartEndE-ValueType
NTR 25 199 1.02e-133 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115345
SMART Domains Protein: ENSMUSP00000111002
Gene: ENSMUSG00000037217

DomainStartEndE-ValueType
Pfam:Synapsin_N 1 32 1.3e-23 PFAM
low complexity region 87 94 N/A INTRINSIC
Pfam:Synapsin 110 212 3.2e-60 PFAM
Pfam:Synapsin_C 214 416 1.1e-132 PFAM
Pfam:RimK 229 409 3.3e-8 PFAM
low complexity region 427 440 N/A INTRINSIC
low complexity region 450 491 N/A INTRINSIC
low complexity region 493 505 N/A INTRINSIC
low complexity region 509 524 N/A INTRINSIC
low complexity region 533 563 N/A INTRINSIC
low complexity region 579 600 N/A INTRINSIC
low complexity region 608 636 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice show altered endometrial gland number and estrous cycles, increased uterus and testis weight, reduced female fertility, aortic aneurysms, reduced bone marrow cellularity and susceptibility to bacterial infection, and altered response to myocardium infarction and induced lung injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,765,827 (GRCm39) C713Y possibly damaging Het
Arhgap45 A G 10: 79,856,803 (GRCm39) N205S probably benign Het
Arhgef5 T G 6: 43,257,180 (GRCm39) F1244V probably damaging Het
Bbs2 A G 8: 94,801,749 (GRCm39) probably null Het
Chsy1 A C 7: 65,775,120 (GRCm39) M150L probably benign Het
Dync1h1 T A 12: 110,632,989 (GRCm39) probably null Het
Efhc1 T C 1: 21,030,496 (GRCm39) I143T possibly damaging Het
Elf4 A C X: 47,503,583 (GRCm39) F642C probably damaging Het
Fgfr1 A G 8: 26,047,771 (GRCm39) D128G possibly damaging Het
Fras1 T A 5: 96,855,350 (GRCm39) I1953N probably damaging Het
Frmpd4 A T X: 166,260,586 (GRCm39) I1052K probably benign Het
Ift52 T A 2: 162,865,320 (GRCm39) I57N probably damaging Het
Lilrb4a G A 10: 51,370,942 (GRCm39) probably null Het
Mob3a A T 10: 80,526,920 (GRCm39) I135N probably benign Het
Pcdhb16 T A 18: 37,613,437 (GRCm39) I799N probably damaging Het
Rad52 T C 6: 119,895,934 (GRCm39) L265P possibly damaging Het
Sorbs1 T A 19: 40,362,009 (GRCm39) Q155L possibly damaging Het
Taok1 A T 11: 77,430,962 (GRCm39) M821K probably benign Het
Tars1 T A 15: 11,384,107 (GRCm39) E720V probably benign Het
Tec T C 5: 72,914,707 (GRCm39) E603G probably null Het
Txnrd2 C A 16: 18,296,479 (GRCm39) H511Q possibly damaging Het
Ubr4 A T 4: 139,167,746 (GRCm39) D2743V probably damaging Het
Vmn1r211 C T 13: 23,036,613 (GRCm39) G18D probably damaging Het
Zfhx4 C T 3: 5,476,840 (GRCm39) Q3127* probably null Het
Posted On 2016-08-02