Incidental Mutation 'R6220:Tes'
ID 503945
Institutional Source Beutler Lab
Gene Symbol Tes
Ensembl Gene ENSMUSG00000029552
Gene Name testin LIM domain protein
Synonyms Tes1, D6Ertd352e, Tes2, testin2, testin
MMRRC Submission 044352-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.282) question?
Stock # R6220 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 17065148-17105824 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 17086195 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000076654
AA Change: C20*
SMART Domains Protein: ENSMUSP00000075950
Gene: ENSMUSG00000029552
AA Change: C20*

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

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: 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

DomainStartEndE-ValueType
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
Abhd16b A G 2: 181,135,578 (GRCm39) D160G probably damaging Het
Acap1 A G 11: 69,780,505 (GRCm39) F15S probably damaging Het
Adam30 A T 3: 98,068,625 (GRCm39) S153C probably damaging Het
Afp A T 5: 90,652,269 (GRCm39) D420V possibly damaging Het
Ak9 T A 10: 41,246,095 (GRCm39) H729Q unknown Het
Armh3 T C 19: 45,834,554 (GRCm39) E618G possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bcr A G 10: 74,898,124 (GRCm39) T423A probably benign Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Ctns T C 11: 73,083,954 (GRCm39) T23A probably benign Het
Ddx54 T A 5: 120,758,754 (GRCm39) N332K probably benign Het
Dysf T A 6: 84,126,727 (GRCm39) I1344N probably damaging Het
Elovl3 A T 19: 46,122,939 (GRCm39) M172L probably benign Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Filip1l T A 16: 57,390,352 (GRCm39) N313K probably benign Het
Foxp2 C A 6: 15,437,947 (GRCm39) T716K probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm10645 A G 8: 83,892,386 (GRCm39) probably benign Het
Gm10735 T C 13: 113,178,030 (GRCm39) probably benign Het
Gm4847 A T 1: 166,462,541 (GRCm39) D316E probably damaging Het
Gorasp2 T C 2: 70,521,134 (GRCm39) L388P probably damaging Het
Heatr5b A G 17: 79,081,106 (GRCm39) L1382P probably damaging Het
Herc1 A G 9: 66,341,070 (GRCm39) Y1729C probably damaging Het
Ifi207 A T 1: 173,557,112 (GRCm39) L542H probably damaging Het
Ighv3-5 T A 12: 114,226,338 (GRCm39) N96I probably damaging Het
Isl1 T C 13: 116,439,803 (GRCm39) T182A probably benign Het
Jph4 T C 14: 55,347,542 (GRCm39) E421G probably benign Het
Lrrc45 T C 11: 120,610,353 (GRCm39) I488T probably benign Het
Mroh8 A G 2: 157,075,083 (GRCm39) I471T probably benign Het
Ms4a2 A T 19: 11,594,927 (GRCm39) D96E probably damaging Het
Mst1r T A 9: 107,784,547 (GRCm39) N68K probably benign Het
Myo18b A G 5: 112,905,373 (GRCm39) M2075T possibly damaging Het
Neb T C 2: 52,160,984 (GRCm39) K2229R probably null Het
Nkx6-3 T A 8: 23,643,987 (GRCm39) probably null Het
Nlrp1a C A 11: 71,033,164 (GRCm39) S10I probably benign Het
Npas2 A T 1: 39,375,142 (GRCm39) T487S probably benign Het
Nrxn1 G C 17: 91,395,904 (GRCm39) T84R probably benign Het
Or4k2 C A 14: 50,424,135 (GRCm39) D180Y probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh18 A G 3: 49,699,700 (GRCm39) C921R probably damaging Het
Pcdha9 A G 18: 37,131,531 (GRCm39) Y200C probably damaging Het
Pknox1 A T 17: 31,822,177 (GRCm39) R315* probably null Het
Rasgrp1 C T 2: 117,115,410 (GRCm39) W726* probably null Het
Rassf8 G A 6: 145,762,859 (GRCm39) R402H probably damaging Het
Rev3l T A 10: 39,698,775 (GRCm39) Y1091N probably damaging Het
Riok3 T G 18: 12,282,608 (GRCm39) V349G probably damaging Het
Rps18 A T 17: 34,174,110 (GRCm39) V15E probably damaging Het
Rptor A T 11: 119,788,268 (GRCm39) Y1323F possibly damaging Het
Rspry1 T C 8: 95,385,378 (GRCm39) C437R probably damaging Het
Sema5a T A 15: 32,686,875 (GRCm39) Y996N probably damaging Het
Smarcad1 A G 6: 65,091,313 (GRCm39) I1011M probably benign Het
Supv3l1 A T 10: 62,274,800 (GRCm39) M295K possibly damaging Het
Sv2c T C 13: 96,113,134 (GRCm39) D605G probably damaging Het
Teddm1b G A 1: 153,750,947 (GRCm39) W252* probably null Het
Thsd4 A G 9: 59,890,030 (GRCm39) W856R probably damaging Het
Treml4 A T 17: 48,571,876 (GRCm39) D93V possibly damaging Het
Trim66 T C 7: 109,082,300 (GRCm39) T218A probably damaging Het
Tssk5 T C 15: 76,257,973 (GRCm39) D128G probably damaging Het
Ubr3 T A 2: 69,850,819 (GRCm39) W1746R probably damaging Het
Vmn2r11 T C 5: 109,201,434 (GRCm39) I357V probably benign Het
Vmn2r87 A T 10: 130,315,807 (GRCm39) D86E probably benign Het
Zfp184 T G 13: 22,144,377 (GRCm39) H694Q probably damaging Het
Zranb3 A C 1: 127,927,141 (GRCm39) F341L 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
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
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'- TATGTTTACATGCCTGGGTCAGAG -3'
(R):5'- CCCACTTGATGATGTGAACACAG -3'

Sequencing Primer
(F):5'- CCTGGGTCAGAGTTGGCTAAAC -3'
(R):5'- TTGATGATGTGAACACAGAACAGCTC -3'
Posted On 2018-02-27