Incidental Mutation 'V7583:Toe1'
| ID |
152644 |
| Institutional Source |
Beutler Lab
|
| 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 # |
V7583 ()
of strain
stinger
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
116661199-116664785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116663308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 56
(N56K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030451]
[ENSMUST00000045542]
[ENSMUST00000102699]
[ENSMUST00000106455]
[ENSMUST00000106456]
[ENSMUST00000106459]
[ENSMUST00000145468]
[ENSMUST00000130359]
|
| AlphaFold |
Q9D2E2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030451
AA Change: N122K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030451
Gene: ENSMUSG00000028688
AA Change: N122K
| 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 damaging
Transcript: ENSMUST00000106455
AA Change: N122K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102063
Gene: ENSMUSG00000028688
AA Change: N122K
| 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 damaging
Transcript: ENSMUST00000145468
AA Change: N56K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117019
Gene: ENSMUSG00000028688
AA Change: N56K
| 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: ENSMUST00000146246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140680
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154195
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142529
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130359
|
| Meta Mutation Damage Score |
0.9073 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
A |
T |
4: 122,595,050 (GRCm39) |
H102L |
possibly damaging |
Het |
| Atp6v1h |
A |
G |
1: 5,194,666 (GRCm39) |
T282A |
possibly damaging |
Het |
| Cdc42bpb |
C |
T |
12: 111,262,825 (GRCm39) |
G1501S |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,042,931 (GRCm39) |
T870A |
probably benign |
Het |
| Dcaf4 |
C |
A |
12: 83,584,475 (GRCm39) |
|
probably null |
Het |
| Dnajc22 |
T |
A |
15: 98,999,363 (GRCm39) |
Y183N |
probably damaging |
Het |
| Dpyd |
C |
T |
3: 118,690,775 (GRCm39) |
Q295* |
probably null |
Het |
| Dync2i1 |
A |
C |
12: 116,175,460 (GRCm39) |
S906A |
possibly damaging |
Het |
| Erv3 |
T |
C |
2: 131,697,846 (GRCm39) |
H171R |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,665,865 (GRCm39) |
T249A |
probably benign |
Het |
| Fcgr1 |
T |
C |
3: 96,191,592 (GRCm39) |
*405W |
probably null |
Het |
| Gm10770 |
T |
A |
2: 150,021,404 (GRCm39) |
K38* |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,385,143 (GRCm39) |
E727G |
possibly damaging |
Het |
| Hnrnpab |
A |
T |
11: 51,493,451 (GRCm39) |
N252K |
probably benign |
Het |
| Ing1 |
T |
C |
8: 11,611,934 (GRCm39) |
V124A |
probably damaging |
Het |
| Izumo4 |
A |
T |
10: 80,539,725 (GRCm39) |
T155S |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,780,315 (GRCm39) |
I396V |
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,318,863 (GRCm39) |
S900L |
possibly damaging |
Het |
| Mbd5 |
A |
G |
2: 49,206,422 (GRCm39) |
D1713G |
probably damaging |
Het |
| Muc6 |
T |
G |
7: 141,233,880 (GRCm39) |
E808A |
probably benign |
Het |
| Mylk |
G |
T |
16: 34,815,574 (GRCm39) |
|
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,467,005 (GRCm39) |
V670A |
possibly damaging |
Het |
| Nphp3 |
T |
C |
9: 103,913,093 (GRCm39) |
|
probably null |
Het |
| Numbl |
T |
C |
7: 26,979,027 (GRCm39) |
S379P |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,235,664 (GRCm39) |
L432Q |
probably damaging |
Het |
| Pelp1 |
T |
A |
11: 70,288,976 (GRCm39) |
T257S |
probably damaging |
Het |
| Pigx |
T |
C |
16: 31,906,240 (GRCm39) |
D129G |
probably damaging |
Het |
| Pik3cd |
A |
C |
4: 149,741,776 (GRCm39) |
L390R |
probably damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,303,825 (GRCm39) |
T112A |
probably benign |
Het |
| Recql4 |
T |
C |
15: 76,590,369 (GRCm39) |
D705G |
possibly damaging |
Het |
| Ror1 |
A |
G |
4: 100,298,130 (GRCm39) |
Q501R |
probably damaging |
Het |
| Sirpb1b |
A |
G |
3: 15,568,243 (GRCm39) |
V366A |
probably benign |
Het |
| Slc30a4 |
T |
A |
2: 122,531,458 (GRCm39) |
M136L |
probably benign |
Het |
| Spaca1 |
T |
C |
4: 34,039,311 (GRCm39) |
E192G |
probably damaging |
Het |
| Spata31 |
C |
A |
13: 65,069,462 (GRCm39) |
P537T |
probably benign |
Het |
| Tnrc6c |
G |
A |
11: 117,614,152 (GRCm39) |
R770H |
probably damaging |
Het |
| Tprkb |
A |
G |
6: 85,905,764 (GRCm39) |
K150E |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,973 (GRCm39) |
K150E |
probably damaging |
Het |
| Tspyl3 |
A |
G |
2: 153,066,980 (GRCm39) |
V86A |
probably benign |
Het |
| Vps18 |
A |
G |
2: 119,127,709 (GRCm39) |
Y844C |
probably benign |
Het |
| Wdr72 |
T |
A |
9: 74,064,552 (GRCm39) |
I528N |
probably damaging |
Het |
| Zfp292 |
C |
T |
4: 34,806,783 (GRCm39) |
C2087Y |
possibly damaging |
Het |
| Zfp933 |
G |
A |
4: 147,910,927 (GRCm39) |
A223V |
probably damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,654,314 (GRCm39) |
R724* |
probably null |
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 |
|
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 |
|
X0028:Toe1
|
UTSW |
4 |
116,663,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAAGCACCGCCTCATTATCTAAC -3'
(R):5'- TACAAGGCCGTGTGTCATGCTG -3'
Sequencing Primer
(F):5'- GAGCCTTGTCACACACATGTC -3'
(R):5'- TGTGTCATGCTGCCAGGAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation