Incidental Mutation 'R0534:Timp4'
ID 49363
Institutional Source Beutler Lab
Gene Symbol Timp4
Ensembl Gene ENSMUSG00000030317
Gene Name tissue inhibitor of metalloproteinase 4
Synonyms TIMP-4
MMRRC Submission 038726-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R0534 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 115221405-115229166 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115226802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 114 (Y114H)
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 damaging
Transcript: ENSMUST00000032462
AA Change: Y114H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032462
Gene: ENSMUSG00000030317
AA Change: Y114H

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: ENSMUST00000203768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204617
Predicted Effect probably damaging
Transcript: ENSMUST00000205131
AA Change: Y114H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144785
Gene: ENSMUSG00000030317
AA Change: Y114H

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
NTR 30 175 2.6e-76 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204726
Meta Mutation Damage Score 0.8510 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand2 A G 6: 115,764,197 (GRCm39) M324V probably damaging Het
Cap1 C T 4: 122,756,512 (GRCm39) V340M probably benign Het
Ccdc110 T C 8: 46,388,175 (GRCm39) V44A possibly damaging Het
Cps1 A G 1: 67,183,059 (GRCm39) D139G probably benign Het
Cwc27 T A 13: 104,768,124 (GRCm39) E457V unknown Het
Cxxc1 C T 18: 74,351,962 (GRCm39) P280S probably benign Het
Dennd2b A T 7: 109,140,635 (GRCm39) V197D probably damaging Het
Dop1b T A 16: 93,559,393 (GRCm39) L595Q probably benign Het
Dscam G T 16: 96,453,372 (GRCm39) S1292R possibly damaging Het
E2f4 C A 8: 106,030,851 (GRCm39) F353L probably damaging Het
Ep300 A G 15: 81,485,097 (GRCm39) probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fign T A 2: 63,811,135 (GRCm39) H45L probably damaging Het
Flcn T A 11: 59,685,025 (GRCm39) probably benign Het
Gm5141 A T 13: 62,922,408 (GRCm39) F254I probably damaging Het
Gpbp1l1 T A 4: 116,448,465 (GRCm39) N402K probably damaging Het
Gpr37 A T 6: 25,669,823 (GRCm39) C340* probably null Het
Gtf3c2 A T 5: 31,315,476 (GRCm39) probably benign Het
Hcfc2 T A 10: 82,574,242 (GRCm39) F139I probably damaging Het
Hectd4 T C 5: 121,486,539 (GRCm39) L3178P possibly damaging Het
Hrc AGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGGAGGAGGAAGAGGAGGAGGA 7: 44,986,659 (GRCm39) probably benign Het
Igf2bp1 A G 11: 95,857,622 (GRCm39) probably benign Het
Igsf9b T G 9: 27,244,358 (GRCm39) probably null Het
Il23r G A 6: 67,403,572 (GRCm39) A443V probably benign Het
Kcnv1 A G 15: 44,972,645 (GRCm39) F413L probably damaging Het
Lipe C A 7: 25,087,611 (GRCm39) A150S possibly damaging Het
Lrrcc1 T C 3: 14,622,333 (GRCm39) S557P probably damaging Het
Mrpl54 C A 10: 81,102,687 (GRCm39) W13L probably damaging Het
Mtcl3 T A 10: 29,056,952 (GRCm39) probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Npy1r C A 8: 67,157,670 (GRCm39) Q327K probably damaging Het
Nt5el C A 13: 105,218,762 (GRCm39) S32* probably null Het
Or51b17 C T 7: 103,542,438 (GRCm39) R168H probably benign Het
Osbpl10 C T 9: 114,996,246 (GRCm39) L139F probably damaging Het
P2rx6 A C 16: 17,385,768 (GRCm39) T199P probably damaging Het
Phyhip A T 14: 70,699,199 (GRCm39) M1L possibly damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Psmc1 T A 12: 100,086,389 (GRCm39) I342N possibly damaging Het
Reln A T 5: 22,152,406 (GRCm39) D2353E probably damaging Het
Rmdn3 T C 2: 118,976,851 (GRCm39) E294G probably benign Het
Scnn1g A G 7: 121,366,647 (GRCm39) M615V probably benign Het
Shcbp1l T A 1: 153,304,314 (GRCm39) D124E possibly damaging Het
Sipa1l1 T C 12: 82,472,054 (GRCm39) S1345P possibly damaging Het
Taf7l2 T C 10: 115,948,707 (GRCm39) E273G possibly damaging Het
Tlr9 T A 9: 106,102,086 (GRCm39) L459Q probably benign Het
Tmem104 C A 11: 115,091,654 (GRCm39) T59K probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Zfp622 A T 15: 25,984,654 (GRCm39) I7F possibly damaging Het
Other mutations in Timp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Timp4 APN 6 115,223,269 (GRCm39) missense possibly damaging 0.73
IGL02267:Timp4 APN 6 115,224,240 (GRCm39) missense possibly damaging 0.70
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
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
Predicted Primers PCR Primer
(F):5'- GTTAGGGTCAAGCTTATGCACAGGG -3'
(R):5'- TGAGCAGTTTCTAACCTGCTGCC -3'

Sequencing Primer
(F):5'- CTTATGCACAGGGCAAGATAAAC -3'
(R):5'- TAACCTGCTGCCATGCC -3'
Posted On 2013-06-12