Incidental Mutation 'V7581:Toe1'
ID |
152547 |
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 # |
V7581 ()
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: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530002B09Rik |
A |
T |
4: 122,595,050 (GRCm39) |
H102L |
possibly damaging |
Het |
Abcb10 |
GGCCATCG |
GG |
8: 124,696,500 (GRCm39) |
|
probably benign |
Het |
Atp6v1h |
A |
G |
1: 5,194,666 (GRCm39) |
T282A |
possibly damaging |
Het |
Clasp1 |
G |
A |
1: 118,509,078 (GRCm39) |
R1027Q |
probably damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,042,931 (GRCm39) |
T870A |
probably benign |
Het |
Dnah12 |
T |
A |
14: 26,495,050 (GRCm39) |
N1369K |
possibly damaging |
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 |
Glrx3 |
A |
G |
7: 137,060,882 (GRCm39) |
H172R |
probably benign |
Het |
Gm10770 |
T |
A |
2: 150,021,404 (GRCm39) |
K38* |
probably null |
Het |
Gm4787 |
G |
A |
12: 81,424,341 (GRCm39) |
Q606* |
probably null |
Het |
Hira |
G |
A |
16: 18,713,571 (GRCm39) |
A29T |
probably damaging |
Het |
Hnrnpab |
A |
T |
11: 51,493,451 (GRCm39) |
N252K |
probably benign |
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 |
Klc1 |
A |
T |
12: 111,741,006 (GRCm39) |
I161F |
probably benign |
Het |
Lpar5 |
C |
A |
6: 125,058,690 (GRCm39) |
A137E |
possibly damaging |
Het |
Lrp4 |
C |
T |
2: 91,318,863 (GRCm39) |
S900L |
possibly damaging |
Het |
Muc6 |
T |
G |
7: 141,233,880 (GRCm39) |
E808A |
probably benign |
Het |
Or10j7 |
G |
T |
1: 173,011,531 (GRCm39) |
L157I |
probably benign |
Het |
Or5p57 |
G |
T |
7: 107,665,885 (GRCm39) |
T40K |
probably benign |
Het |
Otop3 |
T |
A |
11: 115,235,664 (GRCm39) |
L432Q |
probably damaging |
Het |
Papln |
C |
T |
12: 83,825,608 (GRCm39) |
R608C |
possibly damaging |
Het |
Pelp1 |
T |
A |
11: 70,288,976 (GRCm39) |
T257S |
probably damaging |
Het |
Pik3cd |
A |
C |
4: 149,741,776 (GRCm39) |
L390R |
probably damaging |
Het |
Ppwd1 |
A |
G |
13: 104,356,745 (GRCm39) |
Y257H |
probably damaging |
Het |
Prkcb |
G |
T |
7: 122,127,699 (GRCm39) |
W274C |
probably damaging |
Het |
Rbbp8nl |
T |
A |
2: 179,920,001 (GRCm39) |
T558S |
probably benign |
Het |
Recql4 |
T |
C |
15: 76,590,369 (GRCm39) |
D705G |
possibly damaging |
Het |
Slc30a4 |
T |
A |
2: 122,531,458 (GRCm39) |
M136L |
probably benign |
Het |
Slc5a6 |
C |
T |
5: 31,199,957 (GRCm39) |
|
probably null |
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 |
Tmc3 |
T |
C |
7: 83,271,713 (GRCm39) |
V955A |
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 |
Vmn2r68 |
C |
T |
7: 84,871,088 (GRCm39) |
V732I |
probably benign |
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 |
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'- GGGAAGCACCGCCTCATTATCTAAC -3'
(R):5'- TACAAGGCCGTGTGTCATGCTG -3'
Sequencing Primer
(F):5'- GAGCCTTGTCACACACATGTC -3'
(R):5'- TGTGTCATGCTGCCAGGAC -3'
|
Posted On |
2014-01-29 |