Incidental Mutation 'R0088:Eomes'
ID |
20016 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eomes
|
Ensembl Gene |
ENSMUSG00000032446 |
Gene Name |
eomesodermin |
Synonyms |
Tbr2 |
MMRRC Submission |
038375-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0088 (G1)
|
Quality Score |
67 |
Status
|
Validated
(trace)
|
Chromosome |
9 |
Chromosomal Location |
118307259-118315176 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 118307741 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 5
(E5G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035020]
[ENSMUST00000111763]
[ENSMUST00000150633]
|
AlphaFold |
O54839 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035020
AA Change: E5G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000035020 Gene: ENSMUSG00000032446 AA Change: E5G
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
96 |
N/A |
INTRINSIC |
low complexity region
|
127 |
134 |
N/A |
INTRINSIC |
low complexity region
|
211 |
240 |
N/A |
INTRINSIC |
low complexity region
|
246 |
266 |
N/A |
INTRINSIC |
TBOX
|
268 |
463 |
7.3e-120 |
SMART |
Pfam:T-box_assoc
|
484 |
705 |
1.6e-101 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111763
AA Change: E5G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107393 Gene: ENSMUSG00000032446 AA Change: E5G
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
96 |
N/A |
INTRINSIC |
low complexity region
|
127 |
134 |
N/A |
INTRINSIC |
low complexity region
|
211 |
240 |
N/A |
INTRINSIC |
low complexity region
|
246 |
266 |
N/A |
INTRINSIC |
TBOX
|
268 |
463 |
5.53e-120 |
SMART |
Blast:TBOX
|
485 |
511 |
6e-8 |
BLAST |
low complexity region
|
648 |
659 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150633
|
SMART Domains |
Protein: ENSMUSP00000118079 Gene: ENSMUSG00000032446
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
29 |
N/A |
INTRINSIC |
low complexity region
|
60 |
67 |
N/A |
INTRINSIC |
low complexity region
|
144 |
173 |
N/A |
INTRINSIC |
low complexity region
|
179 |
199 |
N/A |
INTRINSIC |
TBOX
|
201 |
395 |
8.01e-117 |
SMART |
|
Meta Mutation Damage Score |
0.1382 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
Validation Efficiency |
82% (32/39) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates. The protein may also be necessary for the differentiation of effector CD8+ T cells which are involved in defense against viral infections. A similar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] PHENOTYPE: Homozygous null mice display embryonic lethality, fail to implant, and lack trophoectoderm outgrowth. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
T |
C |
8: 25,404,083 (GRCm39) |
K243R |
probably damaging |
Het |
Akap9 |
C |
A |
5: 4,011,946 (GRCm39) |
T883K |
probably benign |
Het |
Arhgap5 |
G |
T |
12: 52,563,331 (GRCm39) |
D101Y |
probably damaging |
Het |
Bnc1 |
T |
G |
7: 81,628,246 (GRCm39) |
N39T |
possibly damaging |
Het |
Carnmt1 |
T |
A |
19: 18,655,217 (GRCm39) |
H123Q |
probably benign |
Het |
Cdh24 |
T |
C |
14: 54,871,171 (GRCm39) |
D92G |
probably damaging |
Het |
Eqtn |
T |
C |
4: 94,808,227 (GRCm39) |
T192A |
probably damaging |
Het |
Fam110c |
T |
C |
12: 31,125,217 (GRCm39) |
V393A |
probably damaging |
Het |
Fbll1 |
C |
A |
11: 35,688,967 (GRCm39) |
A99S |
possibly damaging |
Het |
Il1rl2 |
A |
T |
1: 40,404,213 (GRCm39) |
I445F |
possibly damaging |
Het |
Ipo8 |
T |
C |
6: 148,703,434 (GRCm39) |
T400A |
probably benign |
Het |
Iqsec3 |
T |
C |
6: 121,450,248 (GRCm39) |
E92G |
probably damaging |
Het |
Itpr2 |
C |
T |
6: 146,142,683 (GRCm39) |
V1679M |
probably benign |
Het |
Kif2a |
G |
A |
13: 107,111,940 (GRCm39) |
A478V |
probably damaging |
Het |
Lingo4 |
A |
G |
3: 94,309,340 (GRCm39) |
S93G |
probably benign |
Het |
Mrpl37 |
A |
G |
4: 106,921,621 (GRCm39) |
S203P |
possibly damaging |
Het |
Ndel1 |
A |
C |
11: 68,724,246 (GRCm39) |
S242R |
probably damaging |
Het |
Nfatc3 |
T |
A |
8: 106,854,574 (GRCm39) |
M1036K |
possibly damaging |
Het |
Ngrn |
T |
C |
7: 79,914,203 (GRCm39) |
I118T |
probably damaging |
Het |
Or10d5 |
A |
G |
9: 39,861,671 (GRCm39) |
V132A |
probably benign |
Het |
Pex10 |
A |
T |
4: 155,154,955 (GRCm39) |
S236C |
probably damaging |
Het |
Phkb |
T |
G |
8: 86,669,020 (GRCm39) |
|
probably null |
Het |
Pklr |
A |
G |
3: 89,049,215 (GRCm39) |
Y187C |
probably damaging |
Het |
Plekhh1 |
A |
C |
12: 79,102,140 (GRCm39) |
E403D |
probably benign |
Het |
Pls1 |
T |
C |
9: 95,677,821 (GRCm39) |
K22E |
possibly damaging |
Het |
Prdm2 |
G |
A |
4: 142,861,524 (GRCm39) |
H589Y |
possibly damaging |
Het |
Rabggtb |
C |
A |
3: 153,614,467 (GRCm39) |
R230L |
probably damaging |
Het |
Rsph4a |
A |
G |
10: 33,785,349 (GRCm39) |
E420G |
probably benign |
Het |
Sdk2 |
T |
C |
11: 113,717,912 (GRCm39) |
N1484S |
possibly damaging |
Het |
St8sia3 |
T |
A |
18: 64,400,056 (GRCm39) |
V17E |
possibly damaging |
Het |
Sult6b2 |
T |
A |
6: 142,743,675 (GRCm39) |
N117I |
probably damaging |
Het |
Thbs2 |
T |
C |
17: 14,901,963 (GRCm39) |
T422A |
possibly damaging |
Het |
Tmem266 |
A |
G |
9: 55,344,613 (GRCm39) |
D415G |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Ttyh2 |
G |
T |
11: 114,581,081 (GRCm39) |
G107C |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,168,125 (GRCm39) |
D2835G |
probably damaging |
Het |
Zranb3 |
T |
C |
1: 127,904,199 (GRCm39) |
D540G |
probably benign |
Het |
|
Other mutations in Eomes |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01112:Eomes
|
APN |
9 |
118,311,334 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01322:Eomes
|
APN |
9 |
118,313,898 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01532:Eomes
|
APN |
9 |
118,311,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R0305:Eomes
|
UTSW |
9 |
118,313,825 (GRCm39) |
missense |
probably benign |
0.11 |
R0894:Eomes
|
UTSW |
9 |
118,311,368 (GRCm39) |
splice site |
probably null |
|
R1110:Eomes
|
UTSW |
9 |
118,313,667 (GRCm39) |
missense |
probably benign |
0.29 |
R1326:Eomes
|
UTSW |
9 |
118,313,565 (GRCm39) |
nonsense |
probably null |
|
R1942:Eomes
|
UTSW |
9 |
118,313,716 (GRCm39) |
missense |
probably benign |
0.01 |
R2108:Eomes
|
UTSW |
9 |
118,307,920 (GRCm39) |
missense |
probably benign |
0.09 |
R2237:Eomes
|
UTSW |
9 |
118,311,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R2238:Eomes
|
UTSW |
9 |
118,311,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R2239:Eomes
|
UTSW |
9 |
118,311,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R3915:Eomes
|
UTSW |
9 |
118,310,341 (GRCm39) |
missense |
probably benign |
0.01 |
R4158:Eomes
|
UTSW |
9 |
118,308,031 (GRCm39) |
missense |
probably benign |
|
R5274:Eomes
|
UTSW |
9 |
118,309,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R6894:Eomes
|
UTSW |
9 |
118,310,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R7055:Eomes
|
UTSW |
9 |
118,309,567 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7115:Eomes
|
UTSW |
9 |
118,313,557 (GRCm39) |
missense |
probably benign |
0.00 |
R7962:Eomes
|
UTSW |
9 |
118,307,574 (GRCm39) |
unclassified |
probably benign |
|
R8053:Eomes
|
UTSW |
9 |
118,309,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R8346:Eomes
|
UTSW |
9 |
118,314,036 (GRCm39) |
missense |
probably benign |
0.07 |
R9060:Eomes
|
UTSW |
9 |
118,311,364 (GRCm39) |
makesense |
probably null |
|
R9409:Eomes
|
UTSW |
9 |
118,314,069 (GRCm39) |
missense |
probably benign |
0.23 |
R9443:Eomes
|
UTSW |
9 |
118,313,640 (GRCm39) |
missense |
|
|
X0021:Eomes
|
UTSW |
9 |
118,311,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACCTACAATCCCGAGTTTGTTCC -3'
(R):5'- GACGCTTTGTCTAAGTCCAGCCTC -3'
Sequencing Primer
(F):5'- CTTGAGGGAAGGACGCTAAATTG -3'
(R):5'- TCCTCCGCGAGCACTCTCCAGC -3'
|
Posted On |
2013-04-11 |