Incidental Mutation 'IGL02806:Toe1'
| ID |
360412 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Toe1
|
| Ensembl Gene |
ENSMUSG00000028688 |
| Gene Name |
target of EGR1, member 1 (nuclear) |
| Synonyms |
4930584N22Rik, 4933424D16Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02806
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
116661199-116664785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 116663527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 88
(V88M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030451]
[ENSMUST00000045542]
[ENSMUST00000102699]
[ENSMUST00000106455]
[ENSMUST00000106456]
[ENSMUST00000106459]
[ENSMUST00000145468]
[ENSMUST00000130359]
|
| AlphaFold |
Q9D2E2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030451
AA Change: V88M
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030451
Gene: ENSMUSG00000028688
AA Change: V88M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
Pfam:CAF1
|
39 |
171 |
3.1e-46 |
PFAM |
|
Pfam:CAF1
|
164 |
452 |
9.9e-40 |
PFAM |
|
Pfam:zf-CCCH
|
297 |
322 |
2.1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045542
|
| SMART Domains |
Protein: ENSMUSP00000041009
Gene: ENSMUSG00000033985
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
30 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
59 |
309 |
1.6e-48 |
PFAM |
|
Pfam:Pkinase_Tyr
|
59 |
309 |
1.2e-50 |
PFAM |
|
low complexity region
|
539 |
546 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102699
|
| SMART Domains |
Protein: ENSMUSP00000099760
Gene: ENSMUSG00000028687
| Domain | Start | End | E-Value | Type |
|---|
|
ENDO3c
|
107 |
259 |
1.46e-52 |
SMART |
|
FES
|
260 |
280 |
2.16e-5 |
SMART |
|
Pfam:NUDIX_4
|
353 |
463 |
2.3e-23 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106455
AA Change: V88M
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102063
Gene: ENSMUSG00000028688
AA Change: V88M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
Pfam:CAF1
|
37 |
301 |
2.1e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106456
|
| SMART Domains |
Protein: ENSMUSP00000102064
Gene: ENSMUSG00000033985
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
30 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
59 |
291 |
4.5e-46 |
PFAM |
|
Pfam:Pkinase
|
60 |
332 |
3.6e-46 |
PFAM |
|
low complexity region
|
510 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106459
|
| SMART Domains |
Protein: ENSMUSP00000102067
Gene: ENSMUSG00000033985
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
30 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
59 |
238 |
6.1e-37 |
PFAM |
|
Pfam:Pkinase
|
60 |
239 |
4.3e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124857
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145468
AA Change: V22M
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000117019
Gene: ENSMUSG00000028688
AA Change: V22M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1
|
1 |
184 |
2.2e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154195
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140680
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130359
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
A |
G |
12: 84,088,737 (GRCm39) |
D195G |
probably damaging |
Het |
| Acsm1 |
G |
A |
7: 119,235,861 (GRCm39) |
D194N |
probably benign |
Het |
| Akr1b1 |
T |
C |
6: 34,281,254 (GRCm39) |
Y310C |
probably damaging |
Het |
| Aldh6a1 |
T |
C |
12: 84,486,414 (GRCm39) |
D168G |
probably damaging |
Het |
| Ankrd29 |
A |
C |
18: 12,408,795 (GRCm39) |
S166A |
probably benign |
Het |
| Ap1m2 |
T |
G |
9: 21,216,979 (GRCm39) |
D119A |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,681,297 (GRCm39) |
K776R |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,000,643 (GRCm39) |
D1274G |
possibly damaging |
Het |
| Cacna2d3 |
A |
C |
14: 29,073,907 (GRCm39) |
|
probably null |
Het |
| Ccdc51 |
T |
C |
9: 108,921,316 (GRCm39) |
M401T |
probably benign |
Het |
| Cchcr1 |
A |
G |
17: 35,836,153 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,797,543 (GRCm39) |
S1336P |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,409,156 (GRCm39) |
D397E |
probably benign |
Het |
| Duox2 |
T |
C |
2: 122,115,147 (GRCm39) |
H1110R |
probably damaging |
Het |
| Ephb3 |
C |
A |
16: 21,041,031 (GRCm39) |
D696E |
probably benign |
Het |
| Ermap |
T |
C |
4: 119,046,113 (GRCm39) |
K6E |
possibly damaging |
Het |
| Gm3095 |
A |
G |
14: 15,170,388 (GRCm39) |
D79G |
possibly damaging |
Het |
| Hnrnpab |
A |
G |
11: 51,496,305 (GRCm39) |
S126P |
probably benign |
Het |
| Hyou1 |
C |
A |
9: 44,300,180 (GRCm39) |
S823* |
probably null |
Het |
| Klhl31 |
T |
A |
9: 77,563,056 (GRCm39) |
V607E |
probably damaging |
Het |
| Klrc3 |
A |
T |
6: 129,616,065 (GRCm39) |
C209S |
possibly damaging |
Het |
| Lhx4 |
G |
A |
1: 155,577,975 (GRCm39) |
P389L |
probably benign |
Het |
| Lmntd2 |
T |
C |
7: 140,791,952 (GRCm39) |
T264A |
probably benign |
Het |
| Mkx |
T |
C |
18: 6,937,025 (GRCm39) |
D302G |
probably damaging |
Het |
| Ms4a4d |
T |
C |
19: 11,533,610 (GRCm39) |
S164P |
possibly damaging |
Het |
| Myo1e |
A |
G |
9: 70,269,552 (GRCm39) |
E651G |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,750,151 (GRCm39) |
|
probably null |
Het |
| Ncoa3 |
A |
G |
2: 165,894,352 (GRCm39) |
I298V |
probably benign |
Het |
| Nek1 |
G |
A |
8: 61,497,120 (GRCm39) |
M389I |
probably benign |
Het |
| Nid1 |
T |
A |
13: 13,642,897 (GRCm39) |
D278E |
probably benign |
Het |
| Nkx2-9 |
C |
T |
12: 56,658,705 (GRCm39) |
V170M |
probably damaging |
Het |
| Or51ag1 |
T |
A |
7: 103,155,210 (GRCm39) |
K314N |
probably benign |
Het |
| Oxsr1 |
T |
C |
9: 119,070,260 (GRCm39) |
D511G |
possibly damaging |
Het |
| Pramel14 |
T |
A |
4: 143,719,501 (GRCm39) |
|
probably null |
Het |
| Rbm44 |
T |
C |
1: 91,080,799 (GRCm39) |
L329S |
possibly damaging |
Het |
| Setd7 |
A |
T |
3: 51,457,688 (GRCm39) |
N46K |
probably damaging |
Het |
| Snx10 |
T |
A |
6: 51,565,329 (GRCm39) |
F149I |
probably damaging |
Het |
| Sult2a3 |
T |
A |
7: 13,856,857 (GRCm39) |
E21V |
probably damaging |
Het |
| Tas2r135 |
T |
C |
6: 42,383,382 (GRCm39) |
F307S |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,836,123 (GRCm39) |
|
probably benign |
Het |
| Tnfsf18 |
T |
G |
1: 161,331,348 (GRCm39) |
M166R |
possibly damaging |
Het |
| Ttk |
T |
A |
9: 83,744,540 (GRCm39) |
C577* |
probably null |
Het |
| Ush2a |
T |
A |
1: 188,542,554 (GRCm39) |
Y3373* |
probably null |
Het |
| Vwa8 |
A |
G |
14: 79,394,528 (GRCm39) |
D1543G |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,455,468 (GRCm39) |
H1154L |
probably benign |
Het |
|
| Other mutations in Toe1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
F5770:Toe1
|
UTSW |
4 |
116,663,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4486001:Toe1
|
UTSW |
4 |
116,663,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0501:Toe1
|
UTSW |
4 |
116,664,682 (GRCm39) |
missense |
probably benign |
|
|
R0639:Toe1
|
UTSW |
4 |
116,663,947 (GRCm39) |
missense |
probably benign |
|
|
R1768:Toe1
|
UTSW |
4 |
116,662,076 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1860:Toe1
|
UTSW |
4 |
116,662,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2926:Toe1
|
UTSW |
4 |
116,662,177 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4722:Toe1
|
UTSW |
4 |
116,662,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:Toe1
|
UTSW |
4 |
116,661,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5195:Toe1
|
UTSW |
4 |
116,661,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6898:Toe1
|
UTSW |
4 |
116,664,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:Toe1
|
UTSW |
4 |
116,664,715 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
R9550:Toe1
|
UTSW |
4 |
116,661,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
T0722:Toe1
|
UTSW |
4 |
116,663,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
T0975:Toe1
|
UTSW |
4 |
116,663,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
V7581:Toe1
|
UTSW |
4 |
116,663,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7582:Toe1
|
UTSW |
4 |
116,663,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7583:Toe1
|
UTSW |
4 |
116,663,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Toe1
|
UTSW |
4 |
116,663,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation