Incidental Mutation 'R6220:Tes'
Institutional Source Beutler Lab
Gene Symbol Tes
Ensembl Gene ENSMUSG00000029552
Gene Nametestis derived transcript
SynonymsD6Ertd352e, Tes1, Tes2, testin, testin2
MMRRC Submission 044352-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #R6220 (G1)
Quality Score225.009
Status Validated
Chromosomal Location17065149-17105828 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 17086196 bp
Amino Acid Change Cysteine to Stop codon at position 29 (C29*)
Ref Sequence ENSEMBL: ENSMUSP00000111127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076654] [ENSMUST00000115467] [ENSMUST00000154266]
Predicted Effect probably null
Transcript: ENSMUST00000076654
AA Change: C20*
SMART Domains Protein: ENSMUSP00000075950
Gene: ENSMUSG00000029552
AA Change: C20*

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 null
Transcript: ENSMUST00000115467
AA Change: C29*
SMART Domains Protein: ENSMUSP00000111127
Gene: ENSMUSG00000029552
AA Change: C29*

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: ENSMUST00000121170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140709
Predicted Effect probably benign
Transcript: ENSMUST00000154266
SMART Domains Protein: ENSMUSP00000118791
Gene: ENSMUSG00000029552

Pfam:PET 6 79 4e-33 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (65/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik T C 19: 45,846,115 E618G possibly damaging Het
Abhd16b A G 2: 181,493,785 D160G probably damaging Het
Acap1 A G 11: 69,889,679 F15S probably damaging Het
Adam30 A T 3: 98,161,309 S153C probably damaging Het
Afp A T 5: 90,504,410 D420V possibly damaging Het
Ak9 T A 10: 41,370,099 H729Q unknown Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Bcr A G 10: 75,062,292 T423A probably benign Het
Cc2d1b C T 4: 108,633,225 R825W probably damaging Het
Ctns T C 11: 73,193,128 T23A probably benign Het
Ddx54 T A 5: 120,620,689 N332K probably benign Het
Dysf T A 6: 84,149,745 I1344N probably damaging Het
Elovl3 A T 19: 46,134,500 M172L probably benign Het
Fbxo6 A T 4: 148,149,522 I39N probably damaging Het
Filip1l T A 16: 57,569,989 N313K probably benign Het
Foxp2 C A 6: 15,437,948 T716K probably damaging Het
Gm10549 C A 18: 33,464,305 probably benign Het
Gm10645 A G 8: 83,165,757 probably benign Het
Gm10735 T C 13: 113,041,496 probably benign Het
Gm4847 A T 1: 166,634,972 D316E probably damaging Het
Gorasp2 T C 2: 70,690,790 L388P probably damaging Het
Heatr5b A G 17: 78,773,677 L1382P probably damaging Het
Herc1 A G 9: 66,433,788 Y1729C probably damaging Het
Ifi207 A T 1: 173,729,546 L542H probably damaging Het
Ighv3-5 T A 12: 114,262,718 N96I probably damaging Het
Isl1 T C 13: 116,303,267 T182A probably benign Het
Jph4 T C 14: 55,110,085 E421G probably benign Het
Lrrc45 T C 11: 120,719,527 I488T probably benign Het
Mroh8 A G 2: 157,233,163 I471T probably benign Het
Ms4a2 A T 19: 11,617,563 D96E probably damaging Het
Mst1r T A 9: 107,907,348 N68K probably benign Het
Myo18b A G 5: 112,757,507 M2075T possibly damaging Het
Neb T C 2: 52,270,972 K2229R probably null Het
Nkx6-3 T A 8: 23,153,971 probably null Het
Nlrp1a C A 11: 71,142,338 S10I probably benign Het
Npas2 A T 1: 39,336,061 T487S probably benign Het
Nrxn1 G C 17: 91,088,476 T84R probably benign Het
Olfr730 C A 14: 50,186,678 D180Y probably damaging Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Pcdh18 A G 3: 49,745,251 C921R probably damaging Het
Pcdha9 A G 18: 36,998,478 Y200C probably damaging Het
Pknox1 A T 17: 31,603,203 R315* probably null Het
Rasgrp1 C T 2: 117,284,929 W726* probably null Het
Rassf8 G A 6: 145,817,133 R402H probably damaging Het
Rev3l T A 10: 39,822,779 Y1091N probably damaging Het
Riok3 T G 18: 12,149,551 V349G probably damaging Het
Rps18 A T 17: 33,955,136 V15E probably damaging Het
Rptor A T 11: 119,897,442 Y1323F possibly damaging Het
Rspry1 T C 8: 94,658,750 C437R probably damaging Het
Sema5a T A 15: 32,686,729 Y996N probably damaging Het
Smarcad1 A G 6: 65,114,329 I1011M probably benign Het
Supv3l1 A T 10: 62,439,021 M295K possibly damaging Het
Sv2c T C 13: 95,976,626 D605G probably damaging Het
Teddm1b G A 1: 153,875,201 W252* probably null Het
Thsd4 A G 9: 59,982,747 W856R probably damaging Het
Treml4 A T 17: 48,264,848 D93V possibly damaging Het
Trim66 T C 7: 109,483,093 T218A probably damaging Het
Tssk5 T C 15: 76,373,773 D128G probably damaging Het
Ubr3 T A 2: 70,020,475 W1746R probably damaging Het
Vmn2r11 T C 5: 109,053,568 I357V probably benign Het
Vmn2r87 A T 10: 130,479,938 D86E probably benign Het
Zfp184 T G 13: 21,960,207 H694Q probably damaging Het
Zranb3 A C 1: 127,999,404 F341L probably benign Het
Other mutations in Tes
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01408:Tes APN 6 17099879 missense probably damaging 1.00
IGL02070:Tes APN 6 17099780 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
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
R7978:Tes UTSW 6 17096323 missense probably benign 0.00
R7992:Tes UTSW 6 17096243 missense possibly damaging 0.80
R8052:Tes UTSW 6 17097292 missense probably benign 0.08
R8129:Tes UTSW 6 17065243 start gained probably benign
R8552:Tes UTSW 6 17097328 missense probably damaging 1.00
R8703:Tes UTSW 6 17099789 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-02-27