Incidental Mutation 'R2926:Toe1'
| ID |
255746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Toe1
|
| Ensembl Gene |
ENSMUSG00000028688 |
| Gene Name |
target of EGR1, member 1 (nuclear) |
| Synonyms |
4930584N22Rik, 4933424D16Rik |
| MMRRC Submission |
040511-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2926 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116661199-116664785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 116662177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 331
(A331T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030451]
[ENSMUST00000045542]
[ENSMUST00000102699]
[ENSMUST00000106455]
[ENSMUST00000106456]
[ENSMUST00000106459]
[ENSMUST00000130359]
[ENSMUST00000145468]
|
| AlphaFold |
Q9D2E2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030451
AA Change: A331T
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030451
Gene: ENSMUSG00000028688
AA Change: A331T
| 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 |
probably benign
Transcript: ENSMUST00000106455
|
| SMART Domains |
Protein: ENSMUSP00000102063
Gene: ENSMUSG00000028688
| 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 |
noncoding transcript
Transcript: ENSMUST00000154195
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140680
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145468
|
| SMART Domains |
Protein: ENSMUSP00000117019
Gene: ENSMUSG00000028688
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1
|
1 |
184 |
2.2e-58 |
PFAM |
|
| Meta Mutation Damage Score |
0.1841 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
G |
T |
5: 124,216,902 (GRCm39) |
S438R |
possibly damaging |
Het |
| Add3 |
A |
G |
19: 53,215,253 (GRCm39) |
|
probably null |
Het |
| Adgrb2 |
T |
C |
4: 129,902,137 (GRCm39) |
L506P |
probably damaging |
Het |
| Atp6v0a1 |
A |
T |
11: 100,934,774 (GRCm39) |
I621L |
probably damaging |
Het |
| Calb1 |
T |
G |
4: 15,904,302 (GRCm39) |
L218R |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,437,203 (GRCm39) |
|
probably benign |
Het |
| Ccser2 |
A |
T |
14: 36,601,518 (GRCm39) |
S842T |
possibly damaging |
Het |
| Cd300a |
A |
G |
11: 114,784,139 (GRCm39) |
E49G |
possibly damaging |
Het |
| Colec11 |
T |
A |
12: 28,667,428 (GRCm39) |
Q37L |
probably damaging |
Het |
| D630045J12Rik |
T |
A |
6: 38,145,106 (GRCm39) |
I1307F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,867,564 (GRCm39) |
V257A |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,550,338 (GRCm39) |
N3327I |
probably damaging |
Het |
| Gja8 |
C |
T |
3: 96,826,469 (GRCm39) |
V398I |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 107,022,148 (GRCm39) |
L179* |
probably null |
Het |
| Hsd3b9 |
A |
G |
3: 98,357,872 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
T |
C |
14: 57,726,375 (GRCm39) |
Y678H |
probably damaging |
Het |
| Itga10 |
A |
G |
3: 96,560,165 (GRCm39) |
N560D |
probably damaging |
Het |
| Itpk1 |
G |
T |
12: 102,545,389 (GRCm39) |
P238Q |
probably damaging |
Het |
| Kl |
T |
C |
5: 150,876,806 (GRCm39) |
W209R |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,954,828 (GRCm39) |
N1127S |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,423,982 (GRCm39) |
C830Y |
probably damaging |
Het |
| Mcmbp |
G |
A |
7: 128,299,738 (GRCm39) |
|
probably benign |
Het |
| Mrps33 |
A |
G |
6: 39,782,438 (GRCm39) |
S28P |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Myt1 |
C |
T |
2: 181,467,803 (GRCm39) |
T1079M |
possibly damaging |
Het |
| N4bp1 |
A |
T |
8: 87,588,424 (GRCm39) |
Y171* |
probably null |
Het |
| Ncln |
G |
T |
10: 81,324,272 (GRCm39) |
T442K |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,602,596 (GRCm39) |
V390A |
probably damaging |
Het |
| Ntrk2 |
C |
A |
13: 59,208,098 (GRCm39) |
T648K |
probably damaging |
Het |
| Nwd1 |
A |
G |
8: 73,393,640 (GRCm39) |
H301R |
probably damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,893 (GRCm39) |
V146E |
probably benign |
Het |
| Pcdh12 |
T |
C |
18: 38,415,443 (GRCm39) |
N561D |
probably damaging |
Het |
| Pcnx1 |
T |
A |
12: 82,041,769 (GRCm39) |
S2134T |
probably damaging |
Het |
| Ppp1cc |
G |
A |
5: 122,312,151 (GRCm39) |
A306T |
probably benign |
Het |
| Pramel3e |
G |
T |
X: 134,400,297 (GRCm39) |
A96S |
possibly damaging |
Het |
| Prrc2c |
C |
T |
1: 162,533,696 (GRCm39) |
|
probably benign |
Het |
| Rabggta |
C |
T |
14: 55,956,747 (GRCm39) |
R319H |
probably benign |
Het |
| Scn10a |
A |
C |
9: 119,467,767 (GRCm39) |
F791C |
possibly damaging |
Het |
| Stab1 |
T |
A |
14: 30,883,756 (GRCm39) |
D267V |
probably damaging |
Het |
| Sva |
A |
T |
6: 42,019,596 (GRCm39) |
Y152F |
possibly damaging |
Het |
| Tgfbrap1 |
T |
G |
1: 43,114,789 (GRCm39) |
M104L |
probably damaging |
Het |
| Tmed4 |
T |
C |
11: 6,221,728 (GRCm39) |
T203A |
probably benign |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trpm7 |
T |
C |
2: 126,700,329 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
C |
T |
3: 146,636,170 (GRCm39) |
R438* |
probably null |
Het |
| Usp11 |
G |
T |
X: 20,584,031 (GRCm39) |
G601W |
probably damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,833,984 (GRCm39) |
T551A |
possibly damaging |
Het |
| Vmn2r73 |
T |
C |
7: 85,520,871 (GRCm39) |
K366E |
probably benign |
Het |
| Vps33a |
A |
G |
5: 123,707,634 (GRCm39) |
I111T |
possibly damaging |
Het |
|
| Other mutations in Toe1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02806:Toe1
|
APN |
4 |
116,663,527 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCCATCTCCAAGCTACTTG -3'
(R):5'- TCTGTGACAAGTTCTCGGTGAG -3'
Sequencing Primer
(F):5'- ACTTGTGTGACCTTCCCTGGAG -3'
(R):5'- GACAAGTTCTCGGTGAGTAAATGTCC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation