Incidental Mutation 'IGL02267:Timp4'
ID 286932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Timp4
Ensembl Gene ENSMUSG00000030317
Gene Name tissue inhibitor of metalloproteinase 4
Synonyms TIMP-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL02267
Quality Score
Status
Chromosome 6
Chromosomal Location 115221405-115229166 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115224240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 143 (V143E)
Ref Sequence ENSEMBL: ENSMUSP00000144785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009538] [ENSMUST00000032462] [ENSMUST00000166681] [ENSMUST00000169345] [ENSMUST00000203450] [ENSMUST00000205131]
AlphaFold Q9JHB3
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 probably benign
Transcript: ENSMUST00000032462
AA Change: V143E

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032462
Gene: ENSMUSG00000030317
AA Change: V143E

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 possibly damaging
Transcript: ENSMUST00000205131
AA Change: V143E

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144785
Gene: ENSMUSG00000030317
AA Change: V143E

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
NTR 30 175 2.6e-76 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204617
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,683,505 (GRCm39) Q929R probably benign Het
Aplf A T 6: 87,635,946 (GRCm39) D122E probably damaging Het
Atp2a3 T A 11: 72,878,810 (GRCm39) L874Q probably damaging Het
Atp2b2 A T 6: 113,770,691 (GRCm39) L406Q probably damaging Het
Atp6v1b1 A G 6: 83,733,891 (GRCm39) D374G probably benign Het
Bcas1 T A 2: 170,220,708 (GRCm39) R239* probably null Het
Bhmt2 A G 13: 93,805,854 (GRCm39) V56A probably damaging Het
Cage1 T C 13: 38,207,233 (GRCm39) E204G probably damaging Het
Ccdc157 G A 11: 4,094,035 (GRCm39) A532V probably benign Het
Cd300lb G A 11: 114,819,303 (GRCm39) R109* probably null Het
Clca4c-ps T C 3: 144,585,516 (GRCm39) noncoding transcript Het
Ctnna3 G T 10: 64,781,777 (GRCm39) V747F probably benign Het
Cyp2c29 A T 19: 39,318,866 (GRCm39) I488F probably benign Het
Cyp3a25 T C 5: 145,935,362 (GRCm39) M85V possibly damaging Het
Dnah7b T A 1: 46,266,090 (GRCm39) Y2220N probably damaging Het
Espl1 A G 15: 102,224,099 (GRCm39) I1217V probably benign Het
Exoc2 A G 13: 30,999,304 (GRCm39) S918P probably benign Het
Fer1l4 T A 2: 155,873,172 (GRCm39) I1303F possibly damaging Het
Gm28047 A T 15: 102,455,662 (GRCm39) I234K probably damaging Het
Gpcpd1 A G 2: 132,410,630 (GRCm39) V19A probably damaging Het
Gprin3 A G 6: 59,331,458 (GRCm39) V283A probably benign Het
Grb14 A G 2: 64,783,960 (GRCm39) Y56H probably damaging Het
Greb1 A G 12: 16,767,209 (GRCm39) F331S probably benign Het
Iigp1c T G 18: 60,379,470 (GRCm39) V335G probably damaging Het
Jkamp A G 12: 72,141,591 (GRCm39) Y198C probably damaging Het
Klk1b11 G T 7: 43,649,165 (GRCm39) C234F probably damaging Het
Nacad T C 11: 6,552,649 (GRCm39) T181A probably benign Het
Or1e23 A G 11: 73,407,375 (GRCm39) S217P probably benign Het
Or2m13 A T 16: 19,225,914 (GRCm39) L285Q possibly damaging Het
Or5ak4 T A 2: 85,161,465 (GRCm39) Y259F probably damaging Het
Pitpnm3 A T 11: 71,962,274 (GRCm39) I227N probably benign Het
Pnn A G 12: 59,116,995 (GRCm39) E189G probably damaging Het
Pnpla2 C A 7: 141,038,122 (GRCm39) P197T probably damaging Het
Pnpla6 A G 8: 3,567,327 (GRCm39) T62A probably benign Het
Ptprq G T 10: 107,482,419 (GRCm39) D1051E probably damaging Het
Rag2 C T 2: 101,460,376 (GRCm39) R229C probably damaging Het
Serinc1 A T 10: 57,399,204 (GRCm39) I196N probably damaging Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Slc26a9 T C 1: 131,680,583 (GRCm39) C43R probably damaging Het
Slc2a3 A T 6: 122,716,931 (GRCm39) Y44N probably benign Het
Smad5 T G 13: 56,883,603 (GRCm39) probably benign Het
Sugct C A 13: 17,819,450 (GRCm39) V132F possibly damaging Het
Supt6 T C 11: 78,117,030 (GRCm39) E568G possibly damaging Het
Tfpt T C 7: 3,631,982 (GRCm39) T43A probably damaging Het
Tns1 T C 1: 74,031,290 (GRCm39) D275G possibly damaging Het
Trib1 A G 15: 59,523,449 (GRCm39) E161G probably damaging Het
Trpc7 A T 13: 57,008,743 (GRCm39) L308Q probably damaging Het
Ush1c A T 7: 45,858,722 (GRCm39) V522E possibly damaging Het
Usp28 T C 9: 48,935,265 (GRCm39) V449A probably damaging Het
Vmn1r82 A G 7: 12,039,273 (GRCm39) Y64C probably damaging Het
Wwox G A 8: 115,438,805 (GRCm39) M290I probably benign Het
Other mutations in Timp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Timp4 APN 6 115,223,269 (GRCm39) missense possibly damaging 0.73
IGL02368:Timp4 APN 6 115,223,360 (GRCm39) splice site probably null
IGL02501:Timp4 APN 6 115,223,444 (GRCm39) missense probably damaging 1.00
IGL02636:Timp4 APN 6 115,226,785 (GRCm39) splice site probably null
R0534:Timp4 UTSW 6 115,226,802 (GRCm39) missense probably damaging 1.00
R0671:Timp4 UTSW 6 115,226,814 (GRCm39) missense probably damaging 1.00
R1698:Timp4 UTSW 6 115,227,364 (GRCm39) splice site probably null
R5994:Timp4 UTSW 6 115,224,315 (GRCm39) missense probably damaging 1.00
R6433:Timp4 UTSW 6 115,224,181 (GRCm39) missense probably damaging 1.00
R7537:Timp4 UTSW 6 115,227,421 (GRCm39) missense probably damaging 0.96
R7869:Timp4 UTSW 6 115,227,355 (GRCm39) missense probably benign 0.09
R9207:Timp4 UTSW 6 115,224,270 (GRCm39) missense probably damaging 1.00
Z1177:Timp4 UTSW 6 115,228,738 (GRCm39) start codon destroyed probably null 0.89
Posted On 2015-04-16