Incidental Mutation 'R6810:Tes'
ID 533750
Institutional Source Beutler Lab
Gene Symbol Tes
Ensembl Gene ENSMUSG00000029552
Gene Name testin LIM domain protein
Synonyms Tes1, D6Ertd352e, Tes2, testin2, testin
MMRRC Submission 044923-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.282) question?
Stock # R6810 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 17065148-17105824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 17104651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 377 (N377K)
Ref Sequence ENSEMBL: ENSMUSP00000111127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076654] [ENSMUST00000115467]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000076654
AA Change: N368K

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000075950
Gene: ENSMUSG00000029552
AA Change: N368K

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 probably benign
Transcript: ENSMUST00000115467
AA Change: N377K

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000111127
Gene: ENSMUSG00000029552
AA Change: N377K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency 96% (53/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 A T 8: 95,660,570 (GRCm39) T70S probably damaging Het
Adora1 T C 1: 134,161,777 (GRCm39) Y106C probably damaging Het
Aox3 T A 1: 58,180,590 (GRCm39) N250K probably benign Het
Ap2b1 A T 11: 83,226,317 (GRCm39) Y238F possibly damaging Het
Birc6 G A 17: 74,919,215 (GRCm39) S2015N possibly damaging Het
C7 A G 15: 5,037,136 (GRCm39) F581L probably damaging Het
Cd27 A T 6: 125,210,627 (GRCm39) H203Q probably damaging Het
Cdk2 A G 10: 128,535,456 (GRCm39) V274A probably benign Het
Cenpe A G 3: 134,949,583 (GRCm39) T1351A probably benign Het
Chd7 T C 4: 8,839,523 (GRCm39) L1353P probably damaging Het
Dcc C T 18: 71,503,764 (GRCm39) V945M probably damaging Het
Dio1 A G 4: 107,154,922 (GRCm39) V118A probably damaging Het
Dst C T 1: 34,251,379 (GRCm39) T1818M probably damaging Het
Dthd1 T A 5: 62,971,672 (GRCm39) M165K probably benign Het
Eif5b A G 1: 38,085,741 (GRCm39) I929V probably benign Het
F5 T A 1: 164,014,471 (GRCm39) S581T probably damaging Het
Fanca A C 8: 124,013,216 (GRCm39) I761S probably damaging Het
Fat2 T C 11: 55,173,067 (GRCm39) T2549A possibly damaging Het
Fut2 A G 7: 45,299,929 (GRCm39) L281P probably damaging Het
Gm19410 C A 8: 36,239,733 (GRCm39) A143E probably damaging Het
Gm5431 T C 11: 48,779,803 (GRCm39) D651G probably damaging Het
Hook3 A C 8: 26,522,450 (GRCm39) probably null Het
Ivd G T 2: 118,700,242 (GRCm39) V90L probably benign Het
Klhdc7b A G 15: 89,272,559 (GRCm39) Y1147C possibly damaging Het
Mlh1 G A 9: 111,070,626 (GRCm39) T363M possibly damaging Het
Ndufa3 A T 7: 3,622,476 (GRCm39) I45F probably damaging Het
Nell2 T C 15: 95,139,468 (GRCm39) D588G probably damaging Het
Nhlrc3 T C 3: 53,360,996 (GRCm39) N253S probably benign Het
Nlrp4c T A 7: 6,069,754 (GRCm39) F552I probably damaging Het
Or51g1 A C 7: 102,634,042 (GRCm39) S110A probably damaging Het
Or5j3 G A 2: 86,128,267 (GRCm39) A36T probably benign Het
Pcdhga12 T C 18: 37,900,232 (GRCm39) S355P probably benign Het
Pcdhga7 A T 18: 37,848,926 (GRCm39) Y311F probably benign Het
Phldb2 A G 16: 45,569,088 (GRCm39) probably null Het
Plscr4 G A 9: 92,365,889 (GRCm39) V120I probably damaging Het
Plxna4 A G 6: 32,287,457 (GRCm39) V480A probably benign Het
Psrc1 A T 3: 108,292,664 (GRCm39) K152N possibly damaging Het
Ptcd3 A C 6: 71,862,516 (GRCm39) V473G probably damaging Het
Rab11fip1 ACTCT ACT 8: 27,642,760 (GRCm39) probably null Het
Semp2l2b C T 10: 21,942,616 (GRCm39) G455R probably damaging Het
Skint6 T C 4: 112,805,577 (GRCm39) probably null Het
Slc24a1 A G 9: 64,855,605 (GRCm39) V434A probably benign Het
Snd1 T A 6: 28,668,609 (GRCm39) V432E probably benign Het
Syne2 C T 12: 75,989,659 (GRCm39) T1847M probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tfip11 T A 5: 112,481,463 (GRCm39) I452N probably benign Het
Tgfbi T C 13: 56,785,016 (GRCm39) S658P probably benign Het
Tmx4 A C 2: 134,462,594 (GRCm39) D112E probably damaging Het
Tnn G T 1: 159,932,412 (GRCm39) D1367E probably damaging Het
Triobp A G 15: 78,850,815 (GRCm39) N323S possibly damaging Het
Usp40 T C 1: 87,908,755 (GRCm39) D582G probably benign Het
Vmn2r99 A G 17: 19,600,296 (GRCm39) K440R probably benign Het
Zfp707 T A 15: 75,846,748 (GRCm39) L193Q probably damaging Het
Zfp748 T C 13: 67,689,844 (GRCm39) Y472C probably damaging 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
R4532:Tes UTSW 6 17,097,407 (GRCm39) missense possibly damaging 0.95
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
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'- ACAAAGATGTCACTGTCACCTG -3'
(R):5'- GCAGTTTATCATGAAATGCAGGC -3'

Sequencing Primer
(F):5'- AAGATGTCACTGTCACCTGTACATC -3'
(R):5'- TATCATGAAATGCAGGCCACTGTG -3'
Posted On 2018-09-12