Incidental Mutation 'IGL02070:Tes'
ID185792
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tes
Ensembl Gene ENSMUSG00000029552
Gene Nametestis derived transcript
SynonymsD6Ertd352e, Tes1, Tes2, testin, testin2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #IGL02070
Quality Score
Status
Chromosome6
Chromosomal Location17065149-17105828 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 17099780 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 258 (L258P)
Ref Sequence ENSEMBL: ENSMUSP00000111127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076654] [ENSMUST00000115467] [ENSMUST00000154266]
Predicted Effect probably damaging
Transcript: ENSMUST00000076654
AA Change: L249P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075950
Gene: ENSMUSG00000029552
AA Change: L249P

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 damaging
Transcript: ENSMUST00000115467
AA Change: L258P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111127
Gene: ENSMUSG00000029552
AA Change: L258P

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
Coding Region Coverage
Validation Efficiency
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
4921501E09Rik T C 17: 33,066,130 E566G probably damaging Het
Adgrg6 A G 10: 14,467,592 Y204H probably damaging Het
Akap13 C A 7: 75,666,545 T583K probably benign Het
Alms1 C A 6: 85,651,403 Q2948K possibly damaging Het
Auts2 C T 5: 131,470,421 R327Q probably damaging Het
Card14 A C 11: 119,344,704 E988A probably damaging Het
Ccl25 T C 8: 4,348,700 probably benign Het
Cttnbp2nl A C 3: 105,011,266 V86G probably damaging Het
Cyb5r2 G A 7: 107,751,187 T213I probably damaging Het
Ear6 A G 14: 51,854,446 H150R probably damaging Het
Ecm2 T C 13: 49,518,370 C116R probably damaging Het
Gabrr2 G T 4: 33,095,340 E385* probably null Het
Hyal5 T A 6: 24,876,962 V278D probably damaging Het
Mboat1 T C 13: 30,224,397 L181P probably benign Het
Mdm1 A G 10: 118,146,618 I53V probably damaging Het
Mfrp T C 9: 44,104,689 Y368H probably benign Het
Myo1b A G 1: 51,794,337 V365A probably damaging Het
Nexmif G T X: 104,083,211 H1509Q probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Obox6 G A 7: 15,834,879 S24L probably damaging Het
Olfr1184 T A 2: 88,487,002 I90N probably damaging Het
Olfr682-ps1 G T 7: 105,127,047 L85I probably benign Het
Optc T A 1: 133,901,176 I178F probably damaging Het
Pcdh15 T A 10: 74,630,868 N1535K probably benign Het
Pcdhb19 A T 18: 37,498,544 N464I probably damaging Het
Pcsk5 C T 19: 17,439,042 V1681I probably benign Het
Pknox1 T A 17: 31,603,365 probably benign Het
Ppa2 T C 3: 133,377,862 F327S probably damaging Het
Rab39b G T X: 75,574,703 L174M probably damaging Het
Reep5 A T 18: 34,372,473 Y48* probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1a T A 10: 61,684,894 probably benign Het
Satb1 T A 17: 51,740,067 D740V probably damaging Het
Sema3f G A 9: 107,692,241 T128I probably damaging Het
Snx1 A T 9: 66,098,449 S129R probably damaging Het
Sptb T A 12: 76,605,539 K1641N possibly damaging Het
Sptbn1 T C 11: 30,145,979 E305G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Taar7d A T 10: 24,028,254 I345F probably benign Het
Trav9-4 A T 14: 53,676,360 T24S possibly damaging Het
Utp20 A G 10: 88,821,877 probably benign Het
Vcam1 T A 3: 116,125,997 T207S probably benign Het
Xkrx T C X: 134,150,562 S447G probably benign Het
Zfp318 T C 17: 46,396,718 L234P probably damaging Het
Other mutations in Tes
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01408:Tes APN 6 17099879 missense probably damaging 1.00
R0501:Tes UTSW 6 17097558 missense probably benign
R1591:Tes UTSW 6 17097442 missense probably damaging 0.98
R1777:Tes UTSW 6 17104755 missense probably benign 0.02
R2968:Tes UTSW 6 17096234 missense probably benign 0.00
R3983:Tes UTSW 6 17099701 splice site probably null
R4532:Tes UTSW 6 17097408 missense possibly damaging 0.95
R4893:Tes UTSW 6 17104596 missense probably damaging 1.00
R4949:Tes UTSW 6 17100360 missense probably benign
R5026:Tes UTSW 6 17096340 missense probably benign 0.41
R6220:Tes UTSW 6 17086196 nonsense probably null
R6810:Tes UTSW 6 17104652 missense probably benign 0.12
R6903:Tes UTSW 6 17099863 missense probably damaging 0.99
R6987:Tes UTSW 6 17086155 missense probably benign 0.09
R7210:Tes UTSW 6 17104762 missense probably damaging 1.00
R7391:Tes UTSW 6 17096167 missense probably damaging 1.00
R7549:Tes UTSW 6 17099741 frame shift probably null
R7818:Tes UTSW 6 17099744 missense probably damaging 0.99
R8052:Tes UTSW 6 17097292 missense probably benign 0.08
Posted On2014-05-07