Incidental Mutation 'IGL01302:Timp4'
ID73292
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Timp4
Ensembl Gene ENSMUSG00000030317
Gene Nametissue inhibitor of metalloproteinase 4
SynonymsTIMP-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #IGL01302
Quality Score
Status
Chromosome6
Chromosomal Location115241892-115252205 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115246308 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 218 (Y218C)
Ref Sequence ENSEMBL: ENSMUSP00000032462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009538] [ENSMUST00000032462] [ENSMUST00000166681] [ENSMUST00000169345] [ENSMUST00000203450] [ENSMUST00000205131]
Predicted Effect probably benign
Transcript: ENSMUST00000009538
SMART Domains Protein: ENSMUSP00000009538
Gene: ENSMUSG00000009394

DomainStartEndE-ValueType
Pfam:Synapsin_N 2 33 3.4e-24 PFAM
Pfam:Synapsin 112 213 6.4e-48 PFAM
Pfam:Synapsin_C 215 417 8.2e-140 PFAM
low complexity region 450 470 N/A INTRINSIC
low complexity region 473 507 N/A INTRINSIC
low complexity region 524 540 N/A INTRINSIC
low complexity region 551 562 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000032462
AA Change: Y218C

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032462
Gene: ENSMUSG00000030317
AA Change: Y218C

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
NTR 30 207 1.85e-122 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166681
Predicted Effect probably benign
Transcript: ENSMUST00000169345
SMART Domains Protein: ENSMUSP00000133121
Gene: ENSMUSG00000009394

DomainStartEndE-ValueType
Pfam:Synapsin_N 2 33 1.3e-24 PFAM
Pfam:Synapsin 109 213 1.6e-62 PFAM
Pfam:Synapsin_C 215 417 4.4e-133 PFAM
Pfam:RimK 247 403 4.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203450
SMART Domains Protein: ENSMUSP00000144921
Gene: ENSMUSG00000009394

DomainStartEndE-ValueType
Pfam:Synapsin_N 2 33 2.7e-24 PFAM
Pfam:Synapsin 112 213 4.6e-48 PFAM
Pfam:Synapsin_C 215 417 5.3e-140 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203707
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204617
Predicted Effect probably benign
Transcript: ENSMUST00000205131
SMART Domains Protein: ENSMUSP00000144785
Gene: ENSMUSG00000030317

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
NTR 30 175 2.6e-76 SMART
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 inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show increased lethality associated with left ventricle rupture following left anterior descending coronary artery ligation. Aged mice exhibit reduced myocardial performance index, decreased coronary flow rate, and increased left ventricle thickness and weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,399,470 probably benign Het
Abcb5 T A 12: 118,918,200 D598V probably damaging Het
Adssl1 T C 12: 112,634,736 probably benign Het
Akap9 T A 5: 3,970,711 S1141T probably benign Het
Avil T C 10: 127,017,034 probably null Het
Avl9 C A 6: 56,725,090 H77N probably damaging Het
Cacna1e A G 1: 154,443,907 V1349A probably damaging Het
Cdc23 A C 18: 34,634,644 S483A probably benign Het
Cep192 C T 18: 67,858,903 P1951S probably benign Het
Cp A G 3: 19,966,367 T175A probably damaging Het
Dubr A C 16: 50,732,635 noncoding transcript Het
Eif4g2 G T 7: 111,074,713 Q695K possibly damaging Het
Endod1 A T 9: 14,357,239 S317T possibly damaging Het
Ep400 T C 5: 110,742,048 T450A probably benign Het
Erc1 A C 6: 119,722,303 V790G probably damaging Het
Fam222a T A 5: 114,594,453 L23Q possibly damaging Het
Fam35a C T 14: 34,259,727 V485I probably benign Het
Fancf A G 7: 51,861,287 V323A probably benign Het
Grik2 T A 10: 49,244,330 Q621L probably damaging Het
Gsk3b G T 16: 38,220,018 R319L probably benign Het
Ikzf1 A G 11: 11,768,923 Y297C probably damaging Het
Katnal2 T C 18: 77,047,167 probably benign Het
Lrba G T 3: 86,295,400 C289F probably damaging Het
Mos T C 4: 3,871,815 probably benign Het
Mycn T C 12: 12,937,586 D270G possibly damaging Het
Olfr672 A T 7: 104,996,721 M61K probably damaging Het
Olfr777 T A 10: 129,268,523 I267F probably benign Het
Pclo A G 5: 14,675,999 probably benign Het
Pgm2 A G 4: 99,929,606 D14G probably damaging Het
Pramel7 T A 2: 87,491,373 D106V possibly damaging Het
Prdm9 G T 17: 15,553,346 H263N probably benign Het
Psd4 T A 2: 24,396,787 probably null Het
Ptprc G A 1: 138,099,631 T493I possibly damaging Het
Rbbp8 T A 18: 11,721,979 S420R probably benign Het
Sap30bp A G 11: 115,962,547 T219A probably damaging Het
Slc2a7 T A 4: 150,157,564 L200Q probably damaging Het
Slc38a6 T A 12: 73,288,525 probably null Het
Tatdn2 T A 6: 113,704,024 probably benign Het
Thrb A G 14: 18,011,056 probably benign Het
Tlr5 A G 1: 182,974,748 D525G probably benign Het
Usp32 G T 11: 84,988,482 T1467N probably benign Het
Vmn2r78 A G 7: 86,915,361 I5V unknown Het
Zbtb43 T C 2: 33,454,091 H374R probably benign Het
Zfhx4 C A 3: 5,243,568 T618K probably damaging Het
Other mutations in Timp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02267:Timp4 APN 6 115247279 missense possibly damaging 0.70
IGL02368:Timp4 APN 6 115246399 intron probably null
IGL02501:Timp4 APN 6 115246483 missense probably damaging 1.00
IGL02636:Timp4 APN 6 115249824 splice site probably null
R0534:Timp4 UTSW 6 115249841 missense probably damaging 1.00
R0671:Timp4 UTSW 6 115249853 missense probably damaging 1.00
R1698:Timp4 UTSW 6 115250403 intron probably null
R5994:Timp4 UTSW 6 115247354 missense probably damaging 1.00
R6433:Timp4 UTSW 6 115247220 missense probably damaging 1.00
R7537:Timp4 UTSW 6 115250460 missense probably damaging 0.96
R7869:Timp4 UTSW 6 115250394 missense probably benign 0.09
Z1177:Timp4 UTSW 6 115251777 start codon destroyed probably null 0.89
Posted On2013-10-07