Incidental Mutation 'R3915:Eomes'
ID |
309600 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eomes
|
Ensembl Gene |
ENSMUSG00000032446 |
Gene Name |
eomesodermin |
Synonyms |
Tbr2 |
MMRRC Submission |
040913-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3915 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
118307259-118315176 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 118310341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 351
(M351V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035020]
[ENSMUST00000111763]
[ENSMUST00000150633]
|
AlphaFold |
O54839 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035020
AA Change: M351V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000035020 Gene: ENSMUSG00000032446 AA Change: M351V
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: M351V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000107393 Gene: ENSMUSG00000032446 AA Change: M351V
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: M284V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000118079 Gene: ENSMUSG00000032446 AA Change: M284V
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
|
Meta Mutation Damage Score |
0.1004 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
98% (43/44) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
G |
A |
5: 3,627,248 (GRCm39) |
V75I |
possibly damaging |
Het |
AA986860 |
A |
G |
1: 130,670,344 (GRCm39) |
K189E |
probably benign |
Het |
Abcf1 |
C |
T |
17: 36,270,402 (GRCm39) |
R596H |
possibly damaging |
Het |
Abtb3 |
C |
A |
10: 85,468,134 (GRCm39) |
H810N |
probably damaging |
Het |
Axl |
T |
C |
7: 25,460,169 (GRCm39) |
|
probably benign |
Het |
Birc6 |
A |
G |
17: 74,886,603 (GRCm39) |
K644E |
probably benign |
Het |
Btnl7-ps |
T |
A |
17: 34,760,489 (GRCm39) |
|
noncoding transcript |
Het |
Car8 |
A |
T |
4: 8,184,576 (GRCm39) |
|
probably benign |
Het |
Ccdc62 |
C |
T |
5: 124,092,778 (GRCm39) |
R588C |
probably damaging |
Het |
Clasp2 |
T |
G |
9: 113,737,805 (GRCm39) |
S374A |
probably damaging |
Het |
Ctnnb1 |
A |
G |
9: 120,784,717 (GRCm39) |
H503R |
probably benign |
Het |
Cwf19l2 |
A |
G |
9: 3,456,776 (GRCm39) |
H703R |
probably damaging |
Het |
Efcab7 |
A |
T |
4: 99,735,375 (GRCm39) |
Q133L |
probably damaging |
Het |
Ehmt2 |
T |
C |
17: 35,122,443 (GRCm39) |
S280P |
probably damaging |
Het |
Eif4a3l1 |
A |
T |
6: 136,306,420 (GRCm39) |
T294S |
probably benign |
Het |
Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
Fam222b |
C |
G |
11: 78,045,756 (GRCm39) |
P439R |
probably benign |
Het |
Gbp11 |
T |
A |
5: 105,478,978 (GRCm39) |
K153N |
probably damaging |
Het |
Golim4 |
T |
C |
3: 75,810,634 (GRCm39) |
T174A |
probably damaging |
Het |
Grid1 |
A |
G |
14: 35,242,684 (GRCm39) |
Y679C |
probably damaging |
Het |
Gvin-ps5 |
A |
G |
7: 105,929,445 (GRCm39) |
S151P |
probably benign |
Het |
Ikzf3 |
T |
C |
11: 98,381,412 (GRCm39) |
D56G |
probably damaging |
Het |
Kcnj16 |
A |
G |
11: 110,916,382 (GRCm39) |
D348G |
probably benign |
Het |
Kidins220 |
T |
C |
12: 25,103,957 (GRCm39) |
L1319P |
possibly damaging |
Het |
Lrp1b |
T |
A |
2: 41,339,248 (GRCm39) |
D751V |
probably damaging |
Het |
Macc1 |
T |
C |
12: 119,410,551 (GRCm39) |
C440R |
probably benign |
Het |
Mbd2 |
T |
C |
18: 70,755,680 (GRCm39) |
V382A |
probably benign |
Het |
Or13a17 |
T |
A |
7: 140,270,888 (GRCm39) |
D23E |
probably benign |
Het |
Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
Or6c68 |
G |
A |
10: 129,158,178 (GRCm39) |
A229T |
probably benign |
Het |
Pgs1 |
T |
G |
11: 117,910,472 (GRCm39) |
S528A |
probably benign |
Het |
Pitpnm3 |
T |
C |
11: 72,003,110 (GRCm39) |
T67A |
probably damaging |
Het |
Pnliprp2 |
T |
G |
19: 58,748,794 (GRCm39) |
V33G |
probably damaging |
Het |
Ptn |
T |
C |
6: 36,720,282 (GRCm39) |
N90S |
probably damaging |
Het |
Ptprt |
A |
T |
2: 161,397,475 (GRCm39) |
|
probably benign |
Het |
Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
Rasgrp1 |
G |
A |
2: 117,119,122 (GRCm39) |
S505F |
probably damaging |
Het |
Sesn1 |
G |
A |
10: 41,770,886 (GRCm39) |
R139H |
probably benign |
Het |
Slc17a7 |
T |
A |
7: 44,818,144 (GRCm39) |
L23Q |
probably damaging |
Het |
Slc30a10 |
G |
T |
1: 185,187,333 (GRCm39) |
E25* |
probably null |
Het |
Smco1 |
A |
G |
16: 32,092,583 (GRCm39) |
I85V |
probably benign |
Het |
Vmn1r76 |
A |
T |
7: 11,664,496 (GRCm39) |
S239R |
probably benign |
Het |
Zc3h7a |
A |
T |
16: 10,974,074 (GRCm39) |
V237D |
possibly 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 |
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 |
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'- GAGGCTGGTGATTGGAATACC -3'
(R):5'- GGATGAGCTGTCCAAGAGAC -3'
Sequencing Primer
(F):5'- TTAAGGAAGGCTGGATGCACCC -3'
(R):5'- GCTGTCCAAGAGACCCCGAC -3'
|
Posted On |
2015-04-17 |