Incidental Mutation 'IGL01112:Eomes'
| ID |
51945 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eomes
|
| Ensembl Gene |
ENSMUSG00000032446 |
| Gene Name |
eomesodermin |
| Synonyms |
Tbr2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01112
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
118307259-118315176 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118311334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 386
(A386T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035020]
[ENSMUST00000111763]
[ENSMUST00000150633]
|
| AlphaFold |
O54839 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035020
AA Change: A453T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035020
Gene: ENSMUSG00000032446
AA Change: A453T
| 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: A453T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107393
Gene: ENSMUSG00000032446
AA Change: A453T
| 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 damaging
Transcript: ENSMUST00000150633
AA Change: A386T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118079
Gene: ENSMUSG00000032446
AA Change: A386T
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212286
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 |
|---|
| Ano1 |
T |
C |
7: 144,190,882 (GRCm39) |
I401V |
possibly damaging |
Het |
| Ap2a2 |
A |
T |
7: 141,184,932 (GRCm39) |
|
probably benign |
Het |
| Apol7c |
T |
A |
15: 77,410,637 (GRCm39) |
D103V |
probably damaging |
Het |
| Arid4a |
T |
C |
12: 71,119,507 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
A |
G |
7: 126,049,479 (GRCm39) |
V521A |
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,883,062 (GRCm39) |
D1603E |
probably benign |
Het |
| Clec4f |
T |
C |
6: 83,630,182 (GRCm39) |
I125M |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,227,679 (GRCm39) |
I520V |
probably benign |
Het |
| Gldc |
C |
T |
19: 30,135,913 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
G |
T |
5: 121,445,013 (GRCm39) |
M1420I |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,508,303 (GRCm39) |
|
probably benign |
Het |
| Ighv6-3 |
G |
A |
12: 114,355,335 (GRCm39) |
T118I |
possibly damaging |
Het |
| Krt82 |
A |
G |
15: 101,453,958 (GRCm39) |
F250S |
probably damaging |
Het |
| Ltb |
A |
G |
17: 35,413,576 (GRCm39) |
T27A |
probably benign |
Het |
| Mex3b |
T |
A |
7: 82,518,911 (GRCm39) |
S409T |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,315,745 (GRCm39) |
I39N |
probably damaging |
Het |
| Or51a7 |
A |
G |
7: 102,615,235 (GRCm39) |
|
probably benign |
Het |
| Palmd |
A |
G |
3: 116,717,922 (GRCm39) |
S192P |
probably damaging |
Het |
| Pcdh20 |
A |
T |
14: 88,704,636 (GRCm39) |
M888K |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,731,083 (GRCm39) |
H3195L |
unknown |
Het |
| Pgm2 |
A |
T |
5: 64,260,225 (GRCm39) |
I137F |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,837,671 (GRCm39) |
N194K |
probably damaging |
Het |
| Rmnd1 |
T |
C |
10: 4,360,793 (GRCm39) |
|
probably null |
Het |
| Rnf114 |
T |
C |
2: 167,354,459 (GRCm39) |
M180T |
probably damaging |
Het |
| Sap30 |
A |
G |
8: 57,938,123 (GRCm39) |
F165L |
possibly damaging |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,059 (GRCm39) |
|
probably benign |
Het |
| Sftpa1 |
A |
T |
14: 40,854,527 (GRCm39) |
N38I |
probably benign |
Het |
| Sumf1 |
A |
G |
6: 108,152,977 (GRCm39) |
F137S |
probably damaging |
Het |
| Tln2 |
C |
A |
9: 67,219,093 (GRCm39) |
R284L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,570,703 (GRCm39) |
R26730Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,540,808 (GRCm39) |
R25732S |
probably damaging |
Het |
| Tubgcp4 |
T |
C |
2: 121,004,082 (GRCm39) |
V41A |
probably benign |
Het |
| Usp53 |
T |
A |
3: 122,751,367 (GRCm39) |
Q230L |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,074,467 (GRCm39) |
E532G |
probably damaging |
Het |
| Vps9d1 |
G |
T |
8: 123,972,769 (GRCm39) |
N454K |
probably damaging |
Het |
| Wdr55 |
T |
C |
18: 36,895,132 (GRCm39) |
|
probably null |
Het |
| Zfp263 |
T |
A |
16: 3,566,776 (GRCm39) |
C76S |
probably benign |
Het |
|
| Other mutations in Eomes |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation