Incidental Mutation 'R2968:Tes'
| ID |
263310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tes
|
| Ensembl Gene |
ENSMUSG00000029552 |
| Gene Name |
testin LIM domain protein |
| Synonyms |
Tes1, D6Ertd352e, Tes2, testin2, testin |
| MMRRC Submission |
040524-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.282)
|
| Stock # |
R2968 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
17065148-17105824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17096233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 74
(T74A)
|
| 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 benign
Transcript: ENSMUST00000076654
AA Change: T65A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075950
Gene: ENSMUSG00000029552
AA Change: T65A
| 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 |
probably benign
Transcript: ENSMUST00000115467
AA Change: T74A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000111127
Gene: ENSMUSG00000029552
AA Change: T74A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,911,485 (GRCm39) |
I1113N |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,111,732 (GRCm39) |
S211T |
probably damaging |
Het |
| Celsr3 |
G |
T |
9: 108,709,390 (GRCm39) |
C1412F |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,300,159 (GRCm39) |
Y331C |
probably damaging |
Het |
| Cntln |
T |
A |
4: 84,875,504 (GRCm39) |
S313T |
probably benign |
Het |
| Ddx54 |
T |
A |
5: 120,756,694 (GRCm39) |
D134E |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,699,881 (GRCm39) |
D244G |
possibly damaging |
Het |
| Dsg3 |
A |
T |
18: 20,658,282 (GRCm39) |
T298S |
possibly damaging |
Het |
| Dusp1 |
A |
T |
17: 26,726,679 (GRCm39) |
F128I |
probably damaging |
Het |
| Fam83g |
T |
A |
11: 61,594,304 (GRCm39) |
S613T |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Grep1 |
A |
G |
17: 23,934,785 (GRCm39) |
F149S |
possibly damaging |
Het |
| Ighv8-12 |
C |
T |
12: 115,611,570 (GRCm39) |
R118Q |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Mrgprb5 |
T |
A |
7: 47,818,317 (GRCm39) |
R139S |
probably damaging |
Het |
| Or51b6 |
T |
C |
7: 103,556,519 (GRCm39) |
V291A |
probably benign |
Het |
| Pcbp1 |
C |
T |
6: 86,502,471 (GRCm39) |
E143K |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,319,590 (GRCm39) |
S572P |
probably damaging |
Het |
| Serpina3n |
C |
T |
12: 104,375,333 (GRCm39) |
T135M |
probably benign |
Het |
| Spink11 |
A |
T |
18: 44,328,777 (GRCm39) |
F24I |
possibly damaging |
Het |
| Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
| Wdr75 |
A |
G |
1: 45,856,501 (GRCm39) |
D508G |
probably damaging |
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 |
|
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 |
|
|
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'- TGCATCACTGGTTAGGTGTAC -3'
(R):5'- GCCATGTCACAAAAGGAGC -3'
Sequencing Primer
(F):5'- CATCACTGGTTAGGTGTACTTGGTC -3'
(R):5'- AGGAGCTGCCCTAAATAATCTAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation