Incidental Mutation 'R4532:Tes'
ID 333142
Institutional Source Beutler Lab
Gene Symbol Tes
Ensembl Gene ENSMUSG00000029552
Gene Name testin LIM domain protein
Synonyms Tes1, D6Ertd352e, Tes2, testin2, testin
MMRRC Submission 041772-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.282) question?
Stock # R4532 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 17065148-17105824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 17097407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 172 (V172M)
Ref Sequence ENSEMBL: ENSMUSP00000111127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076654] [ENSMUST00000115467] [ENSMUST00000154266]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000076654
AA Change: V163M

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075950
Gene: ENSMUSG00000029552
AA Change: V163M

DomainStartEndE-ValueType
Pfam:PET 82 187 9.6e-46 PFAM
LIM 224 281 9.54e-12 SMART
LIM 289 341 5.35e-15 SMART
LIM 349 404 1.69e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115467
AA Change: V172M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111127
Gene: ENSMUSG00000029552
AA Change: V172M

DomainStartEndE-ValueType
Pfam:PET 96 194 2.1e-44 PFAM
LIM 233 290 9.54e-12 SMART
LIM 298 350 5.35e-15 SMART
LIM 358 413 1.69e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140709
Predicted Effect probably benign
Transcript: ENSMUST00000154266
SMART Domains Protein: ENSMUSP00000118791
Gene: ENSMUSG00000029552

DomainStartEndE-ValueType
Pfam:PET 6 79 4e-33 PFAM
Meta Mutation Damage Score 0.0793 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cancer-associated chromosomal changes often involve regions containing fragile sites. This gene maps to a commom fragile site on chromosome 7q31.2 designated FRA7G. This gene is similar to mouse Testin, a testosterone-responsive gene encoding a Sertoli cell secretory protein containing three LIM domains. LIM domains are double zinc-finger motifs that mediate protein-protein interactions between transcription factors, cytoskeletal proteins and signaling proteins. This protein is a negative regulator of cell growth and may act as a tumor suppressor. This scaffold protein may also play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Multiple protein isoforms are encoded by transcript variants of this gene.[provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous and heterozygous null mice display small forestomachs with thickened epithelium and increased tumor incidence and malignancy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T A 5: 4,093,948 (GRCm39) F2157I probably damaging Het
Aoc1l1 A G 6: 48,955,101 (GRCm39) E647G possibly damaging Het
Ap3b1 A G 13: 94,702,243 (GRCm39) K1099E unknown Het
Arhgap42 T C 9: 9,011,433 (GRCm39) D451G probably damaging Het
Cd19 C T 7: 126,011,281 (GRCm39) C301Y probably damaging Het
Cdh23 T C 10: 60,370,202 (GRCm39) T198A probably benign Het
Cdt1 T C 8: 123,298,495 (GRCm39) S407P probably benign Het
Cyp26c1 A G 19: 37,674,227 (GRCm39) T34A probably damaging Het
Dbh C A 2: 27,067,343 (GRCm39) H409Q possibly damaging Het
Eif5 T A 12: 111,506,318 (GRCm39) C52* probably null Het
Fhod3 A G 18: 25,243,278 (GRCm39) Y1212C probably damaging Het
Ggh T A 4: 20,046,225 (GRCm39) F44L probably benign Het
Gm12185 T C 11: 48,798,747 (GRCm39) Y582C probably damaging Het
Gm12185 T C 11: 48,798,921 (GRCm39) N524S possibly damaging Het
Gm21095 A G Y: 84,131,953 (GRCm39) N149S probably damaging Het
Gys2 T A 6: 142,400,867 (GRCm39) H311L probably damaging Het
Hcn4 C T 9: 58,765,081 (GRCm39) R558C unknown Het
Heatr6 T C 11: 83,660,498 (GRCm39) L546P probably damaging Het
Lin54 G A 5: 100,594,419 (GRCm39) T582I possibly damaging Het
Lpin1 C T 12: 16,603,963 (GRCm39) G623S probably benign Het
Lrfn2 A G 17: 49,377,564 (GRCm39) D215G probably damaging Het
Lrrc3c C A 11: 98,489,859 (GRCm39) S72* probably null Het
Me3 G A 7: 89,282,108 (GRCm39) probably benign Het
Msln A G 17: 25,969,698 (GRCm39) I344T probably damaging Het
Oma1 G A 4: 103,176,571 (GRCm39) V112I probably benign Het
Or5al6 A T 2: 85,976,274 (GRCm39) L268Q possibly damaging Het
Or5p4 T C 7: 107,680,756 (GRCm39) Y252H probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pdgfra A G 5: 75,341,744 (GRCm39) N659S probably damaging Het
Rmnd5a A T 6: 71,376,109 (GRCm39) probably null Het
Slc12a8 C A 16: 33,371,403 (GRCm39) R180S probably damaging Het
Slc6a15 G A 10: 103,245,648 (GRCm39) V544M possibly damaging Het
Slco5a1 T A 1: 12,949,447 (GRCm39) T648S probably damaging Het
Snx13 T C 12: 35,194,219 (GRCm39) F921L probably damaging Het
Stard6 A C 18: 70,616,605 (GRCm39) D88A probably damaging Het
Svep1 G T 4: 58,068,886 (GRCm39) H2967N possibly damaging Het
Tcaf2 A C 6: 42,603,371 (GRCm39) Y730D probably damaging Het
Ttc3 T A 16: 94,267,736 (GRCm39) probably benign Het
Vmn1r23 A G 6: 57,902,914 (GRCm39) I288T probably benign Het
Vmn1r38 G T 6: 66,754,016 (GRCm39) H33Q probably benign Het
Vmn2r75 G T 7: 85,797,349 (GRCm39) C821* probably null Het
Zfp282 C T 6: 47,867,567 (GRCm39) P248S probably benign Het
Zfp655 T A 5: 145,181,507 (GRCm39) I455N probably benign Het
Other mutations in Tes
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01408:Tes APN 6 17,099,878 (GRCm39) missense probably damaging 1.00
IGL02070:Tes APN 6 17,099,779 (GRCm39) missense probably damaging 1.00
R0501:Tes UTSW 6 17,097,557 (GRCm39) missense probably benign
R1591:Tes UTSW 6 17,097,441 (GRCm39) missense probably damaging 0.98
R1777:Tes UTSW 6 17,104,754 (GRCm39) missense probably benign 0.02
R2968:Tes UTSW 6 17,096,233 (GRCm39) missense probably benign 0.00
R3983:Tes UTSW 6 17,099,700 (GRCm39) splice site probably null
R4893:Tes UTSW 6 17,104,595 (GRCm39) missense probably damaging 1.00
R4949:Tes UTSW 6 17,100,359 (GRCm39) missense probably benign
R5026:Tes UTSW 6 17,096,339 (GRCm39) missense probably benign 0.41
R6220:Tes UTSW 6 17,086,195 (GRCm39) nonsense probably null
R6810:Tes UTSW 6 17,104,651 (GRCm39) missense probably benign 0.12
R6903:Tes UTSW 6 17,099,862 (GRCm39) missense probably damaging 0.99
R6987:Tes UTSW 6 17,086,154 (GRCm39) missense probably benign 0.09
R7210:Tes UTSW 6 17,104,761 (GRCm39) missense probably damaging 1.00
R7391:Tes UTSW 6 17,096,166 (GRCm39) missense probably damaging 1.00
R7549:Tes UTSW 6 17,099,740 (GRCm39) frame shift probably null
R7818:Tes UTSW 6 17,099,743 (GRCm39) missense probably damaging 0.99
R7978:Tes UTSW 6 17,096,322 (GRCm39) missense probably benign 0.00
R7992:Tes UTSW 6 17,096,242 (GRCm39) missense possibly damaging 0.80
R8052:Tes UTSW 6 17,097,291 (GRCm39) missense probably benign 0.08
R8129:Tes UTSW 6 17,065,242 (GRCm39) start gained probably benign
R8552:Tes UTSW 6 17,097,327 (GRCm39) missense probably damaging 1.00
R8703:Tes UTSW 6 17,099,788 (GRCm39) missense probably damaging 1.00
R9269:Tes UTSW 6 17,100,341 (GRCm39) missense probably benign 0.25
R9556:Tes UTSW 6 17,096,233 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCAAAAGGATGAAACTCCCTTC -3'
(R):5'- TGGATTCTGCAGACTTGTCC -3'

Sequencing Primer
(F):5'- GGAATAATCCCATTGAACACTGGTC -3'
(R):5'- AGACTTGTCCTTGGAAGCCACTG -3'
Posted On 2015-08-18