Incidental Mutation 'R6987:Tes'
| ID |
543019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tes
|
| Ensembl Gene |
ENSMUSG00000029552 |
| Gene Name |
testin LIM domain protein |
| Synonyms |
Tes1, D6Ertd352e, Tes2, testin2, testin |
| MMRRC Submission |
045094-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.282)
|
| Stock # |
R6987 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
17065148-17105824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 17086154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 16
(Q16K)
|
| 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: Q7K
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000075950
Gene: ENSMUSG00000029552
AA Change: Q7K
| 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: Q16K
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000111127
Gene: ENSMUSG00000029552
AA Change: Q16K
| 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 |
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 |
0.0627 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.9%
|
| Validation Efficiency |
100% (47/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
A |
G |
9: 70,629,978 (GRCm39) |
I137V |
probably benign |
Het |
| Agtr1b |
A |
C |
3: 20,370,585 (GRCm39) |
I7S |
probably benign |
Het |
| Akt2 |
G |
T |
7: 27,332,666 (GRCm39) |
V215L |
probably damaging |
Het |
| Ccdc148 |
C |
A |
2: 58,872,926 (GRCm39) |
L294F |
probably damaging |
Het |
| Ccdc3 |
T |
A |
2: 5,143,115 (GRCm39) |
V124E |
possibly damaging |
Het |
| Cldnd1 |
A |
G |
16: 58,551,734 (GRCm39) |
D121G |
probably benign |
Het |
| Cnr1 |
A |
G |
4: 33,944,739 (GRCm39) |
I376V |
probably benign |
Het |
| Cyp2c40 |
A |
G |
19: 39,801,211 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,881,065 (GRCm39) |
I601V |
possibly damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,353,792 (GRCm39) |
H2982N |
probably damaging |
Het |
| Elavl4 |
A |
T |
4: 110,108,602 (GRCm39) |
D55E |
possibly damaging |
Het |
| Enc1 |
T |
C |
13: 97,382,144 (GRCm39) |
I218T |
probably benign |
Het |
| Fbln2 |
T |
A |
6: 91,211,211 (GRCm39) |
V385D |
probably benign |
Het |
| Ffar2 |
A |
G |
7: 30,519,108 (GRCm39) |
V144A |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,778,630 (GRCm39) |
Q159* |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,387,600 (GRCm39) |
H1574R |
probably benign |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,950,275 (GRCm39) |
N985D |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,410,874 (GRCm39) |
N1438S |
probably damaging |
Het |
| Masp1 |
C |
A |
16: 23,332,665 (GRCm39) |
V57F |
probably damaging |
Het |
| Mypn |
T |
C |
10: 63,028,910 (GRCm39) |
E51G |
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,033,850 (GRCm39) |
T324M |
probably benign |
Het |
| Npas3 |
A |
G |
12: 54,115,036 (GRCm39) |
K635E |
possibly damaging |
Het |
| Or5p4 |
C |
A |
7: 107,680,338 (GRCm39) |
C112* |
probably null |
Het |
| Or8b12i |
A |
T |
9: 20,082,130 (GRCm39) |
S246T |
probably benign |
Het |
| Osbp2 |
T |
C |
11: 3,667,958 (GRCm39) |
E13G |
probably damaging |
Het |
| Pira12 |
A |
G |
7: 3,900,660 (GRCm39) |
I30T |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,852,575 (GRCm39) |
M636T |
probably benign |
Het |
| Pla2g4e |
C |
T |
2: 120,016,861 (GRCm39) |
A227T |
probably benign |
Het |
| Prex2 |
C |
A |
1: 11,240,976 (GRCm39) |
A1028E |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,072,977 (GRCm39) |
D49G |
possibly damaging |
Het |
| Slc9a9 |
A |
G |
9: 94,552,043 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,660,021 (GRCm39) |
C960R |
probably benign |
Het |
| Taf15 |
C |
A |
11: 83,375,521 (GRCm39) |
T31K |
possibly damaging |
Het |
| Tdrd9 |
C |
A |
12: 111,992,027 (GRCm39) |
Q601K |
possibly damaging |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Tmem168 |
T |
A |
6: 13,591,476 (GRCm39) |
M63L |
possibly damaging |
Het |
| Trav14-1 |
C |
T |
14: 53,791,916 (GRCm39) |
R89* |
probably null |
Het |
| Trp53bp2 |
A |
T |
1: 182,274,200 (GRCm39) |
Y615F |
probably damaging |
Het |
| Ttc27 |
T |
C |
17: 75,084,736 (GRCm39) |
|
probably null |
Het |
| Usp25 |
T |
A |
16: 76,874,068 (GRCm39) |
V548E |
probably damaging |
Het |
| Vmn1r124 |
A |
T |
7: 20,993,743 (GRCm39) |
I267K |
probably benign |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,491 (GRCm39) |
M1T |
probably null |
Het |
| Zfp729a |
T |
A |
13: 67,768,058 (GRCm39) |
K724* |
probably null |
Het |
| Zfp850 |
A |
T |
7: 27,689,426 (GRCm39) |
C261S |
probably damaging |
Het |
| Zfp882 |
T |
A |
8: 72,668,517 (GRCm39) |
V448E |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,746,340 (GRCm39) |
M881V |
possibly 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 |
|
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 |
|
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 |
|
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'- ACATGCCTGGGTCAGAGTTG -3'
(R):5'- CAGCAAACCCACTTGATGATGTG -3'
Sequencing Primer
(F):5'- CCTGGGTCAGAGTTGGCTAAAC -3'
(R):5'- CCACTTGATGATGTGAACACAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation