Incidental Mutation 'R1894:Timp3'
ID 211819
Institutional Source Beutler Lab
Gene Symbol Timp3
Ensembl Gene ENSMUSG00000020044
Gene Name tissue inhibitor of metalloproteinase 3
Synonyms Timp-3
MMRRC Submission 039914-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1894 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 86136276-86185369 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 86181716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 196 (R196*)
Ref Sequence ENSEMBL: ENSMUSP00000020234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020234] [ENSMUST00000120638] [ENSMUST00000121789] [ENSMUST00000132307]
AlphaFold P39876
Predicted Effect probably null
Transcript: ENSMUST00000020234
AA Change: R196*
SMART Domains Protein: ENSMUSP00000020234
Gene: ENSMUSG00000020044
AA Change: R196*

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: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
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 (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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 T C 4: 129,907,419 (GRCm39) F977S probably damaging Het
Ago4 A G 4: 126,406,393 (GRCm39) Y306H probably benign Het
Cblc T C 7: 19,526,502 (GRCm39) T196A probably damaging Het
Cfap52 T A 11: 67,844,445 (GRCm39) probably null Het
Cops3 T C 11: 59,710,844 (GRCm39) N375S probably benign Het
Crb1 T C 1: 139,170,931 (GRCm39) T759A probably benign Het
Dnah3 T C 7: 119,685,557 (GRCm39) K153E probably benign Het
Elovl1 C T 4: 118,287,945 (GRCm39) S27F probably damaging Het
Erc2 A G 14: 27,863,185 (GRCm39) E804G probably damaging Het
Fam110b G T 4: 5,798,840 (GRCm39) C86F probably damaging Het
Fbn1 T A 2: 125,236,541 (GRCm39) R380W probably damaging Het
Gatad2a C T 8: 70,369,301 (GRCm39) R221Q probably damaging Het
Gcn1 C T 5: 115,727,174 (GRCm39) P677L probably damaging Het
Gm6020 C T 19: 61,172,391 (GRCm39) H22Y possibly damaging Het
Gm9817 T C 13: 45,232,605 (GRCm39) V136A unknown Het
Gmip T A 8: 70,273,622 (GRCm39) L971H probably damaging Het
Gnptab G A 10: 88,254,989 (GRCm39) E192K possibly damaging Het
Grm7 G A 6: 111,335,568 (GRCm39) V660I probably benign Het
Helz2 G A 2: 180,876,082 (GRCm39) P1471S probably damaging Het
Herc1 G A 9: 66,386,743 (GRCm39) G3786S probably damaging Het
Isg20 T C 7: 78,569,647 (GRCm39) V206A probably benign Het
Jund T A 8: 71,152,470 (GRCm39) I255N probably damaging Het
Kcnt2 A T 1: 140,353,079 (GRCm39) I263F probably damaging Het
Kif2c A T 4: 117,019,420 (GRCm39) L561Q probably benign Het
Klhl3 T C 13: 58,157,189 (GRCm39) D546G probably damaging Het
Klk1b4 A T 7: 43,859,054 (GRCm39) Q24L probably benign Het
Ltbp2 A T 12: 84,834,735 (GRCm39) C225S probably damaging Het
Mcub T C 3: 129,728,312 (GRCm39) H55R probably benign Het
Mecp2 C T X: 73,080,781 (GRCm39) A79T probably damaging Het
Med18 G A 4: 132,187,242 (GRCm39) R86* probably null Het
Mfsd2b T C 12: 4,919,155 (GRCm39) E63G probably damaging Het
Mtus1 C T 8: 41,537,362 (GRCm39) S118N probably damaging Het
Mybbp1a C T 11: 72,336,863 (GRCm39) T565I probably benign Het
Myo15b G A 11: 115,777,899 (GRCm39) G1049S probably damaging Het
Nfrkb T A 9: 31,326,064 (GRCm39) V1169E probably benign Het
Nr2f2 T A 7: 70,004,419 (GRCm39) M411L probably benign Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Nup214 A T 2: 31,886,392 (GRCm39) T585S possibly damaging Het
Or5m13 C T 2: 85,748,599 (GRCm39) T110I probably benign Het
Or6c214 A T 10: 129,590,943 (GRCm39) C125* probably null Het
Or7e177 T C 9: 20,211,633 (GRCm39) S47P probably benign Het
Or8b12b T A 9: 37,684,163 (GRCm39) D69E possibly damaging Het
Pih1d1 T A 7: 44,807,165 (GRCm39) I166N probably damaging Het
Prl2c5 T C 13: 13,366,263 (GRCm39) F181L probably benign Het
Prx C T 7: 27,218,535 (GRCm39) T1012I possibly damaging Het
Rassf8 T A 6: 145,754,199 (GRCm39) V5E probably damaging Het
Rassf9 C A 10: 102,380,755 (GRCm39) R44S possibly damaging Het
Relch A T 1: 105,592,301 (GRCm39) I157F probably benign Het
Sde2 G A 1: 180,687,573 (GRCm39) S153N probably benign Het
Sec16b T A 1: 157,380,545 (GRCm39) M372K possibly damaging Het
Sgcd A T 11: 47,085,937 (GRCm39) I71N probably damaging Het
Slco5a1 C T 1: 12,942,483 (GRCm39) C721Y probably damaging Het
Slx4ip A T 2: 136,910,038 (GRCm39) K344N probably benign Het
Sorcs3 A T 19: 48,782,713 (GRCm39) Q1076L probably benign Het
Spata21 A T 4: 140,838,692 (GRCm39) N581I possibly damaging Het
Spata31d1d G T 13: 59,875,936 (GRCm39) P533H probably benign Het
Spice1 T G 16: 44,185,989 (GRCm39) S111A probably damaging Het
Tex14 T G 11: 87,365,274 (GRCm39) F61V probably damaging Het
Tll2 A G 19: 41,077,110 (GRCm39) probably null Het
Tppp A G 13: 74,169,326 (GRCm39) D22G possibly damaging Het
Trim24 G T 6: 37,934,013 (GRCm39) R652L probably damaging Het
Uaca T C 9: 60,777,718 (GRCm39) S702P possibly damaging Het
Uggt2 T C 14: 119,287,130 (GRCm39) E146G probably damaging Het
Vmn1r233 T C 17: 21,213,994 (GRCm39) S319G probably benign Het
Wdr47 A T 3: 108,530,692 (GRCm39) Q395L possibly damaging Het
Wrnip1 A G 13: 32,989,319 (GRCm39) probably null Het
Zfp420 A T 7: 29,573,933 (GRCm39) H51L probably damaging Het
Other mutations in Timp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02548:Timp3 APN 10 86,174,315 (GRCm39) missense probably benign 0.06
IGL03057:Timp3 APN 10 86,136,815 (GRCm39) missense possibly damaging 0.52
R1291:Timp3 UTSW 10 86,181,702 (GRCm39) missense probably damaging 1.00
R2025:Timp3 UTSW 10 86,136,749 (GRCm39) missense probably damaging 0.98
R6327:Timp3 UTSW 10 86,181,650 (GRCm39) missense probably benign 0.00
R6742:Timp3 UTSW 10 86,136,742 (GRCm39) missense probably benign 0.01
R6841:Timp3 UTSW 10 86,181,638 (GRCm39) missense possibly damaging 0.92
R9408:Timp3 UTSW 10 86,136,782 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- TTGAATTCAGGGAGGGCCTG -3'
(R):5'- TAGACAGCAGAGACTTTAAGTGTCC -3'

Sequencing Primer
(F):5'- ATGGTGCAGTCCCCTAACTGTG -3'
(R):5'- CAGAGACTTTAAGTGTCCCCAGTG -3'
Posted On 2014-06-30