Incidental Mutation 'IGL01532:Eomes'
| ID |
89781 |
| 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 # |
IGL01532
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
118307259-118315176 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118311317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 380
(I380T)
|
| 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: I447T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035020
Gene: ENSMUSG00000032446
AA Change: I447T
| 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: I447T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107393
Gene: ENSMUSG00000032446
AA Change: I447T
| 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: I380T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118079
Gene: ENSMUSG00000032446
AA Change: I380T
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
C |
A |
7: 66,558,349 (GRCm39) |
N264K |
probably damaging |
Het |
| Adgrl3 |
C |
T |
5: 81,842,416 (GRCm39) |
T260I |
probably damaging |
Het |
| Ambra1 |
G |
T |
2: 91,715,977 (GRCm39) |
K769N |
probably damaging |
Het |
| Arel1 |
A |
G |
12: 84,980,936 (GRCm39) |
V357A |
possibly damaging |
Het |
| Atp11b |
T |
A |
3: 35,903,651 (GRCm39) |
C76* |
probably null |
Het |
| AW112010 |
C |
A |
19: 11,025,433 (GRCm39) |
|
noncoding transcript |
Het |
| Bfar |
A |
T |
16: 13,505,251 (GRCm39) |
|
probably benign |
Het |
| Ccdc70 |
T |
G |
8: 22,463,299 (GRCm39) |
L30V |
probably damaging |
Het |
| Cep20 |
A |
G |
16: 14,122,375 (GRCm39) |
S130P |
probably benign |
Het |
| Chrm5 |
C |
T |
2: 112,309,577 (GRCm39) |
R513Q |
probably benign |
Het |
| Crem |
G |
A |
18: 3,276,732 (GRCm39) |
T7I |
probably benign |
Het |
| Cyp4f39 |
C |
T |
17: 32,689,928 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,208,660 (GRCm39) |
T849A |
probably benign |
Het |
| Dock8 |
G |
T |
19: 25,146,805 (GRCm39) |
G1428V |
probably damaging |
Het |
| Fam13a |
T |
C |
6: 58,917,280 (GRCm39) |
D532G |
probably damaging |
Het |
| Gm10061 |
G |
T |
16: 88,948,190 (GRCm39) |
*55L |
probably null |
Het |
| Gm27438 |
T |
G |
2: 87,083,269 (GRCm39) |
|
probably benign |
Het |
| Gpalpp1 |
T |
C |
14: 76,339,942 (GRCm39) |
K124E |
probably benign |
Het |
| Hgs |
T |
A |
11: 120,368,335 (GRCm39) |
|
probably null |
Het |
| Hpn |
T |
A |
7: 30,802,938 (GRCm39) |
M121L |
possibly damaging |
Het |
| Il1r1 |
T |
C |
1: 40,334,088 (GRCm39) |
|
probably null |
Het |
| Jag2 |
A |
T |
12: 112,877,983 (GRCm39) |
C583S |
probably damaging |
Het |
| Katnal2 |
T |
C |
18: 77,099,696 (GRCm39) |
H146R |
probably benign |
Het |
| Ldah |
T |
C |
12: 8,270,596 (GRCm39) |
|
probably benign |
Het |
| Lvrn |
T |
A |
18: 47,033,551 (GRCm39) |
Y921N |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,423,743 (GRCm39) |
Y4572C |
possibly damaging |
Het |
| Myo16 |
A |
G |
8: 10,450,551 (GRCm39) |
S518G |
probably benign |
Het |
| Ncf1 |
T |
C |
5: 134,255,447 (GRCm39) |
N148S |
probably benign |
Het |
| Nes |
T |
G |
3: 87,885,654 (GRCm39) |
D1260E |
possibly damaging |
Het |
| Nup210 |
C |
A |
6: 91,062,981 (GRCm39) |
|
probably benign |
Het |
| Or52b4i |
T |
C |
7: 102,191,863 (GRCm39) |
L240P |
probably damaging |
Het |
| Rnf31 |
C |
A |
14: 55,840,080 (GRCm39) |
Q968K |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,967,034 (GRCm39) |
|
probably benign |
Het |
| Ryk |
T |
C |
9: 102,774,465 (GRCm39) |
Y400H |
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,250,022 (GRCm39) |
|
probably null |
Het |
| Sptssb |
A |
G |
3: 69,728,202 (GRCm39) |
|
probably benign |
Het |
| Sstr5 |
T |
C |
17: 25,710,305 (GRCm39) |
D308G |
probably damaging |
Het |
| Taf2 |
A |
G |
15: 54,912,882 (GRCm39) |
W493R |
possibly damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,489,463 (GRCm39) |
I459L |
probably benign |
Het |
| Vti1b |
A |
C |
12: 79,211,912 (GRCm39) |
L1W |
probably null |
Het |
| Wdr1 |
T |
C |
5: 38,692,530 (GRCm39) |
Y125C |
probably damaging |
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 |
|
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 |
2013-12-03 |
Incidental Mutation