Incidental Mutation 'R6327:Timp3'
ID 510480
Institutional Source Beutler Lab
Gene Symbol Timp3
Ensembl Gene ENSMUSG00000020044
Gene Name tissue inhibitor of metalloproteinase 3
Synonyms Timp-3
MMRRC Submission 044481-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6327 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 86136276-86185369 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86181650 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P39876
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: 128,535,655 (GRCm39) probably null Het
Birc6 C A 17: 74,969,774 (GRCm39) H383Q probably damaging Het
C2 C A 17: 35,083,079 (GRCm39) A431S probably benign Het
C3ar1 C T 6: 122,827,105 (GRCm39) V371M probably damaging Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Ckap2l A G 2: 129,127,414 (GRCm39) S255P probably damaging Het
Clca3a1 T A 3: 144,436,558 (GRCm39) I842F probably benign Het
Cmc2 G T 8: 117,620,896 (GRCm39) H28Q probably damaging Het
Col11a2 C T 17: 34,262,291 (GRCm39) P176L probably benign Het
Csmd3 T C 15: 47,744,783 (GRCm39) D1404G probably damaging Het
Dld G A 12: 31,382,190 (GRCm39) P506S probably benign Het
Dsg3 T C 18: 20,672,927 (GRCm39) M866T probably benign Het
Ehd1 T C 19: 6,348,375 (GRCm39) I451T possibly damaging Het
Fosb T C 7: 19,041,152 (GRCm39) T114A probably benign Het
Foxd4 T A 19: 24,878,198 (GRCm39) M1L possibly damaging Het
Fstl5 T A 3: 76,615,108 (GRCm39) I723N probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Hdlbp A G 1: 93,357,186 (GRCm39) S299P possibly damaging Het
Mast4 G A 13: 102,897,890 (GRCm39) R650C probably damaging Het
Micu3 A G 8: 40,819,238 (GRCm39) T306A probably benign Het
Mylk2 A G 2: 152,755,613 (GRCm39) Q259R possibly damaging Het
Nfkbiz T C 16: 55,642,325 (GRCm39) N31S probably damaging Het
Nisch A T 14: 30,893,444 (GRCm39) probably benign Het
Nudt17 T C 3: 96,615,080 (GRCm39) probably benign Het
Oprm1 A C 10: 6,780,063 (GRCm39) I242L probably damaging Het
Or13a26 T C 7: 140,284,616 (GRCm39) W151R probably damaging Het
Or14c39 T C 7: 86,343,760 (GRCm39) V32A probably benign Het
Or2y1d A C 11: 49,321,828 (GRCm39) H175P probably damaging Het
Otud6b A G 4: 14,826,496 (GRCm39) probably benign Het
Pamr1 A T 2: 102,472,519 (GRCm39) D606V probably damaging Het
Pcf11 T C 7: 92,308,817 (GRCm39) probably benign Het
Pom121l2 T C 13: 22,166,502 (GRCm39) S258P probably damaging Het
Rcsd1 T A 1: 165,483,403 (GRCm39) D196V possibly damaging Het
Sbf2 C T 7: 110,040,759 (GRCm39) R356Q probably damaging Het
Serpinf1 A G 11: 75,304,731 (GRCm39) probably null Het
Slc22a30 T G 19: 8,313,086 (GRCm39) probably benign Het
Strn4 G T 7: 16,550,384 (GRCm39) S36I probably benign Het
Taar6 A G 10: 23,861,177 (GRCm39) L123P probably damaging Het
Thbs1 G T 2: 117,943,137 (GRCm39) R5L unknown Het
Trpm2 C T 10: 77,768,061 (GRCm39) V813M probably damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vcan A T 13: 89,852,951 (GRCm39) S670T probably damaging Het
Vmn1r65 A T 7: 6,011,651 (GRCm39) N194K possibly 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
R1894:Timp3 UTSW 10 86,181,716 (GRCm39) nonsense probably null
R2025:Timp3 UTSW 10 86,136,749 (GRCm39) missense probably damaging 0.98
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'- TCTGGTAGCATTAAAGGGCAGG -3'
(R):5'- TCCCCAGTGCTAAATTTGCAAG -3'

Sequencing Primer
(F):5'- GCTTGCGTGTCATTACAG -3'
(R):5'- TCATTGTCATCATCTGGGAAGAG -3'
Posted On 2018-04-02