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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:PET
|
6 |
79 |
4e-33 |
PFAM |
|
Meta Mutation Damage Score |
0.0793 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |