Incidental Mutation 'R4158:Eomes'
ID |
315631 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eomes
|
Ensembl Gene |
ENSMUSG00000032446 |
Gene Name |
eomesodermin |
Synonyms |
Tbr2 |
MMRRC Submission |
041001-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4158 (G1)
|
Quality Score |
85 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
118307259-118315176 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 118308031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 35
(T35A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118079
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035020]
[ENSMUST00000111763]
[ENSMUST00000150633]
|
AlphaFold |
O54839 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035020
AA Change: T102A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000035020 Gene: ENSMUSG00000032446 AA Change: T102A
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 benign
Transcript: ENSMUST00000111763
AA Change: T102A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107393 Gene: ENSMUSG00000032446 AA Change: T102A
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
AA Change: T35A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118079 Gene: ENSMUSG00000032446 AA Change: T35A
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
97% (38/39) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,103,854 (GRCm39) |
H597R |
probably damaging |
Het |
Adgrf4 |
G |
T |
17: 42,978,568 (GRCm39) |
H258Q |
probably benign |
Het |
Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
Arg1 |
T |
C |
10: 24,798,575 (GRCm39) |
E25G |
probably damaging |
Het |
Arhgef19 |
T |
C |
4: 140,973,660 (GRCm39) |
I49T |
possibly damaging |
Het |
Bsn |
A |
G |
9: 107,990,145 (GRCm39) |
V1869A |
possibly damaging |
Het |
Cep350 |
G |
A |
1: 155,808,621 (GRCm39) |
R652W |
probably damaging |
Het |
Cyp19a1 |
G |
A |
9: 54,093,980 (GRCm39) |
T94I |
probably damaging |
Het |
Dnajc13 |
G |
A |
9: 104,067,641 (GRCm39) |
L1173F |
probably damaging |
Het |
Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
Efcab14 |
A |
C |
4: 115,597,594 (GRCm39) |
D63A |
probably damaging |
Het |
Fbxl20 |
T |
C |
11: 97,986,220 (GRCm39) |
|
probably benign |
Het |
Flcn |
T |
C |
11: 59,691,947 (GRCm39) |
N234S |
probably benign |
Het |
Gm20939 |
A |
T |
17: 95,184,162 (GRCm39) |
Y270F |
possibly damaging |
Het |
Ikzf4 |
A |
T |
10: 128,479,605 (GRCm39) |
|
probably benign |
Het |
Il22b |
T |
C |
10: 118,129,037 (GRCm39) |
T151A |
probably damaging |
Het |
Kcne4 |
A |
G |
1: 78,795,819 (GRCm39) |
N156D |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lrrc45 |
A |
T |
11: 120,609,272 (GRCm39) |
D377V |
possibly damaging |
Het |
Magi3 |
T |
C |
3: 103,958,277 (GRCm39) |
K603E |
probably damaging |
Het |
Mocos |
T |
C |
18: 24,807,303 (GRCm39) |
I345T |
probably damaging |
Het |
Nox4 |
A |
T |
7: 87,046,032 (GRCm39) |
H557L |
possibly damaging |
Het |
Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
Pla2r1 |
A |
T |
2: 60,252,966 (GRCm39) |
I1375K |
probably damaging |
Het |
Ppp6r3 |
T |
A |
19: 3,562,037 (GRCm39) |
H208L |
probably damaging |
Het |
Ptprz1 |
A |
T |
6: 23,001,683 (GRCm39) |
K1258* |
probably null |
Het |
Ptprz1 |
T |
C |
6: 23,022,204 (GRCm39) |
I844T |
possibly damaging |
Het |
Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
Sec31b |
T |
C |
19: 44,513,625 (GRCm39) |
N470S |
probably benign |
Het |
Slc26a7 |
T |
C |
4: 14,544,197 (GRCm39) |
T369A |
probably benign |
Het |
Tex14 |
T |
G |
11: 87,407,595 (GRCm39) |
S900R |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
Vat1l |
T |
A |
8: 115,098,469 (GRCm39) |
M413K |
probably benign |
Het |
Zfp981 |
C |
A |
4: 146,622,080 (GRCm39) |
P335Q |
probably benign |
Het |
Zfp981 |
T |
A |
4: 146,622,339 (GRCm39) |
H421Q |
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 |
R0088:Eomes
|
UTSW |
9 |
118,307,741 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- CACTTCTACTCGCTGGAGAG -3'
(R):5'- TGGAATTTGAGCCATAGGGG -3'
Sequencing Primer
(F):5'- TCGCTGGAGAGTGCTCG -3'
(R):5'- CGTAGAGCGGAGAACCCTG -3'
|
Posted On |
2015-05-14 |