Incidental Mutation 'R4949:Tes'
| ID |
383662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tes
|
| Ensembl Gene |
ENSMUSG00000029552 |
| Gene Name |
testin LIM domain protein |
| Synonyms |
Tes1, D6Ertd352e, Tes2, testin2, testin |
| MMRRC Submission |
042546-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.282)
|
| Stock # |
R4949 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
17065148-17105824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 17100359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 331
(H331N)
|
| 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: H322N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075950
Gene: ENSMUSG00000029552
AA Change: H322N
| 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: H331N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111127
Gene: ENSMUSG00000029552
AA Change: H331N
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.3%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,769,450 (GRCm39) |
V692A |
probably benign |
Het |
| Bcl2l13 |
G |
T |
6: 120,864,191 (GRCm39) |
G382W |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,557 (GRCm39) |
N353I |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,113,408 (GRCm39) |
S170P |
possibly damaging |
Het |
| Clp1 |
A |
C |
2: 84,554,086 (GRCm39) |
M361R |
possibly damaging |
Het |
| Cylc2 |
A |
G |
4: 51,229,804 (GRCm39) |
K382R |
unknown |
Het |
| Dsg2 |
T |
A |
18: 20,723,241 (GRCm39) |
D422E |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Gm14295 |
A |
C |
2: 176,501,469 (GRCm39) |
T320P |
probably damaging |
Het |
| Ido2 |
T |
G |
8: 25,023,970 (GRCm39) |
|
probably null |
Het |
| Ift140 |
T |
A |
17: 25,313,639 (GRCm39) |
S1357T |
probably benign |
Het |
| Insr |
T |
G |
8: 3,235,059 (GRCm39) |
E145A |
probably benign |
Het |
| Itpripl1 |
A |
G |
2: 126,983,327 (GRCm39) |
M265T |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,947,521 (GRCm39) |
N442K |
probably damaging |
Het |
| Kifc5b |
C |
A |
17: 27,144,488 (GRCm39) |
R536S |
probably damaging |
Het |
| Klf6 |
A |
T |
13: 5,914,947 (GRCm39) |
S129C |
probably benign |
Het |
| Lpin2 |
C |
G |
17: 71,538,334 (GRCm39) |
P327A |
probably damaging |
Het |
| Lsm1 |
T |
C |
8: 26,292,065 (GRCm39) |
V114A |
probably benign |
Het |
| Map7d1 |
C |
T |
4: 126,128,846 (GRCm39) |
W218* |
probably null |
Het |
| N4bp2 |
T |
A |
5: 65,979,142 (GRCm39) |
|
probably null |
Het |
| Nt5el |
T |
A |
13: 105,246,214 (GRCm39) |
S258R |
probably damaging |
Het |
| Rheb |
A |
T |
5: 25,008,729 (GRCm39) |
I163K |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,101,897 (GRCm39) |
D113G |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,927,663 (GRCm39) |
N1381D |
probably damaging |
Het |
| Sdsl |
T |
A |
5: 120,597,870 (GRCm39) |
N208Y |
possibly damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,435,591 (GRCm39) |
N8S |
possibly damaging |
Het |
| Sox18 |
G |
A |
2: 181,313,017 (GRCm39) |
Q100* |
probably null |
Het |
| Taar8b |
C |
T |
10: 23,967,825 (GRCm39) |
C123Y |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tmbim1 |
T |
G |
1: 74,334,524 (GRCm39) |
D12A |
probably damaging |
Het |
| Tmprss4 |
T |
C |
9: 45,086,841 (GRCm39) |
I307V |
possibly damaging |
Het |
| Ttll1 |
A |
T |
15: 83,386,374 (GRCm39) |
M77K |
probably null |
Het |
| Ttpal |
G |
A |
2: 163,455,671 (GRCm39) |
R220Q |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,625 (GRCm39) |
H271Q |
probably benign |
Het |
| Vmn2r32 |
A |
G |
7: 7,467,083 (GRCm39) |
I815T |
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 |
|
|
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 |
|
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'- AAGGGACCTGGGTTTGTCAC -3'
(R):5'- CAGATGGCTTTTGAGCTGC -3'
Sequencing Primer
(F):5'- GTTTGTCACTGTGGTGTAAAGAG -3'
(R):5'- GCTGCCTAGATTTAAATAGCCTCTG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation