Incidental Mutation 'R6327:Timp3'
ID510480
Institutional Source Beutler Lab
Gene Symbol Timp3
Ensembl Gene ENSMUSG00000020044
Gene Nametissue inhibitor of metalloproteinase 3
SynonymsTimp-3
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6327 (G1)
Quality Score225.009
Status Validated
Chromosome10
Chromosomal Location86300372-86349506 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 86345786 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 174 (Y174H)
Ref Sequence ENSEMBL: ENSMUSP00000020234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020234] [ENSMUST00000120638] [ENSMUST00000121789] [ENSMUST00000132307]
Predicted Effect probably benign
Transcript: ENSMUST00000020234
AA Change: Y174H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020234
Gene: ENSMUSG00000020044
AA Change: Y174H

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
NTR 24 194 1.7e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120638
SMART Domains Protein: ENSMUSP00000113720
Gene: ENSMUSG00000059602

DomainStartEndE-ValueType
Pfam:Synapsin_N 1 32 8.7e-22 PFAM
low complexity region 47 66 N/A INTRINSIC
low complexity region 80 88 N/A INTRINSIC
Pfam:Synapsin 89 190 1.8e-46 PFAM
Pfam:Synapsin_C 192 394 6.8e-141 PFAM
low complexity region 418 485 N/A INTRINSIC
low complexity region 535 551 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121789
SMART Domains Protein: ENSMUSP00000113408
Gene: ENSMUSG00000059602

DomainStartEndE-ValueType
Pfam:Synapsin_N 1 32 2.2e-25 PFAM
low complexity region 47 66 N/A INTRINSIC
Pfam:Synapsin 87 190 3.6e-63 PFAM
Pfam:Synapsin_C 192 242 6.7e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123783
Predicted Effect probably benign
Transcript: ENSMUST00000132307
SMART Domains Protein: ENSMUSP00000133236
Gene: ENSMUSG00000020044

DomainStartEndE-ValueType
Pfam:TIMP 3 50 1.5e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145864
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (43/43)
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 (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted null mice die prematurely with lethargy, ruffled hair, and a hunched posture, displaying impaired bronchiole branching, reduced alveologenesis and abnormal mammary gland involution. Knock-ins harboring a Ser156Cys missense mutation provide a mouse model for Sorsby fundus dystrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,558,692 probably null Het
Birc6 C A 17: 74,662,779 H383Q probably damaging Het
C2 C A 17: 34,864,103 A431S probably benign Het
C3ar1 C T 6: 122,850,146 V371M probably damaging Het
Chd1l G A 3: 97,587,167 A399V probably damaging Het
Ckap2l A G 2: 129,285,494 S255P probably damaging Het
Clca3a1 T A 3: 144,730,797 I842F probably benign Het
Cmc2 G T 8: 116,894,157 H28Q probably damaging Het
Col11a2 C T 17: 34,043,317 P176L probably benign Het
Csmd3 T C 15: 47,881,387 D1404G probably damaging Het
Dld G A 12: 31,332,191 P506S probably benign Het
Dsg3 T C 18: 20,539,870 M866T probably benign Het
Ehd1 T C 19: 6,298,345 I451T possibly damaging Het
Fosb T C 7: 19,307,227 T114A probably benign Het
Foxd4 T A 19: 24,900,834 M1L possibly damaging Het
Fstl5 T A 3: 76,707,801 I723N probably benign Het
Gm10549 C A 18: 33,464,305 probably benign Het
Gm11595 G A 11: 99,772,555 R100C unknown Het
Hdlbp A G 1: 93,429,464 S299P possibly damaging Het
Mast4 G A 13: 102,761,382 R650C probably damaging Het
Micu3 A G 8: 40,366,197 T306A probably benign Het
Mylk2 A G 2: 152,913,693 Q259R possibly damaging Het
Nfkbiz T C 16: 55,821,962 N31S probably damaging Het
Nisch A T 14: 31,171,487 probably benign Het
Nudt17 T C 3: 96,707,764 probably benign Het
Olfr1389 A C 11: 49,431,001 H175P probably damaging Het
Olfr292 T C 7: 86,694,552 V32A probably benign Het
Olfr541 T C 7: 140,704,703 W151R probably damaging Het
Oprm1 A C 10: 6,830,063 I242L probably damaging Het
Otud6b A G 4: 14,826,496 probably benign Het
Pamr1 A T 2: 102,642,174 D606V probably damaging Het
Pcf11 T C 7: 92,659,609 probably benign Het
Pom121l2 T C 13: 21,982,332 S258P probably damaging Het
Rcsd1 T A 1: 165,655,834 D196V possibly damaging Het
Sbf2 C T 7: 110,441,552 R356Q probably damaging Het
Serpinf1 A G 11: 75,413,905 probably null Het
Slc22a30 T G 19: 8,335,722 probably benign Het
Strn4 G T 7: 16,816,459 S36I probably benign Het
Taar6 A G 10: 23,985,279 L123P probably damaging Het
Thbs1 G T 2: 118,112,656 R5L unknown Het
Trpm2 C T 10: 77,932,227 V813M probably damaging Het
Uox C T 3: 146,624,577 R163* probably null Het
Vcan A T 13: 89,704,832 S670T probably damaging Het
Vmn1r65 A T 7: 6,008,652 N194K possibly damaging Het
Other mutations in Timp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02548:Timp3 APN 10 86338451 missense probably benign 0.06
IGL03057:Timp3 APN 10 86300951 missense possibly damaging 0.52
R1291:Timp3 UTSW 10 86345838 missense probably damaging 1.00
R1894:Timp3 UTSW 10 86345852 nonsense probably null
R2025:Timp3 UTSW 10 86300885 missense probably damaging 0.98
R6742:Timp3 UTSW 10 86300878 missense probably benign 0.01
R6841:Timp3 UTSW 10 86345774 missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TCTGGTAGCATTAAAGGGCAGG -3'
(R):5'- TCCCCAGTGCTAAATTTGCAAG -3'

Sequencing Primer
(F):5'- GCTTGCGTGTCATTACAG -3'
(R):5'- TCATTGTCATCATCTGGGAAGAG -3'
Posted On2018-04-02