Incidental Mutation 'IGL01398:Eml3'
ID |
79545 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eml3
|
Ensembl Gene |
ENSMUSG00000071647 |
Gene Name |
echinoderm microtubule associated protein like 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.802)
|
Stock # |
IGL01398
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
8906916-8918946 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 8911598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096241]
[ENSMUST00000096242]
[ENSMUST00000224272]
[ENSMUST00000224642]
|
AlphaFold |
Q8VC03 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096241
|
SMART Domains |
Protein: ENSMUSP00000093960 Gene: ENSMUSG00000071647
Domain | Start | End | E-Value | Type |
coiled coil region
|
12 |
47 |
N/A |
INTRINSIC |
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
low complexity region
|
149 |
168 |
N/A |
INTRINSIC |
low complexity region
|
198 |
208 |
N/A |
INTRINSIC |
Pfam:HELP
|
215 |
286 |
5.3e-30 |
PFAM |
WD40
|
295 |
344 |
6.34e-2 |
SMART |
Blast:WD40
|
347 |
392 |
5e-22 |
BLAST |
WD40
|
395 |
434 |
1.56e-1 |
SMART |
WD40
|
450 |
487 |
2.64e2 |
SMART |
WD40
|
504 |
543 |
3.33e-1 |
SMART |
WD40
|
587 |
626 |
2.69e-5 |
SMART |
WD40
|
670 |
709 |
1.7e-2 |
SMART |
WD40
|
716 |
755 |
1.52e-4 |
SMART |
WD40
|
829 |
869 |
1.29e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000096242
|
SMART Domains |
Protein: ENSMUSP00000093961 Gene: ENSMUSG00000071648
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
Pfam:Tetraspannin
|
17 |
291 |
1e-18 |
PFAM |
low complexity region
|
331 |
346 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224272
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224642
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225054
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225181
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225377
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226096
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
T |
C |
11: 69,772,548 (GRCm39) |
D521G |
probably damaging |
Het |
Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
Best2 |
T |
A |
8: 85,735,956 (GRCm39) |
Y326F |
probably damaging |
Het |
Clca3a1 |
T |
C |
3: 144,722,512 (GRCm39) |
T287A |
possibly damaging |
Het |
Cyp26a1 |
C |
T |
19: 37,686,395 (GRCm39) |
T13I |
probably damaging |
Het |
Dhcr7 |
T |
C |
7: 143,395,056 (GRCm39) |
S188P |
probably damaging |
Het |
Faf1 |
A |
T |
4: 109,593,793 (GRCm39) |
I124F |
probably damaging |
Het |
Fkbp9 |
T |
A |
6: 56,837,790 (GRCm39) |
|
probably benign |
Het |
Foxq1 |
G |
A |
13: 31,743,434 (GRCm39) |
D179N |
probably damaging |
Het |
Frem1 |
C |
T |
4: 82,868,599 (GRCm39) |
V1443M |
possibly damaging |
Het |
Gpnmb |
T |
A |
6: 49,027,365 (GRCm39) |
M363K |
probably benign |
Het |
Grm3 |
T |
C |
5: 9,535,762 (GRCm39) |
|
probably benign |
Het |
Ints3 |
A |
G |
3: 90,300,130 (GRCm39) |
L929P |
probably damaging |
Het |
Myh11 |
T |
A |
16: 14,019,964 (GRCm39) |
I1823F |
probably damaging |
Het |
Nudt9 |
T |
C |
5: 104,212,979 (GRCm39) |
*351Q |
probably null |
Het |
Or2ak6 |
A |
T |
11: 58,592,593 (GRCm39) |
H22L |
probably benign |
Het |
Or4c107 |
C |
T |
2: 88,789,193 (GRCm39) |
P128S |
probably damaging |
Het |
Or8k38 |
A |
T |
2: 86,488,032 (GRCm39) |
F257I |
probably damaging |
Het |
Pgr15l |
C |
T |
X: 96,121,785 (GRCm39) |
T392I |
probably benign |
Het |
Sdk1 |
C |
A |
5: 141,923,332 (GRCm39) |
L318I |
probably benign |
Het |
Sult1c2 |
C |
A |
17: 54,269,180 (GRCm39) |
V279L |
possibly damaging |
Het |
Tek |
T |
C |
4: 94,738,014 (GRCm39) |
I688T |
probably damaging |
Het |
Telo2 |
A |
T |
17: 25,324,748 (GRCm39) |
D477E |
probably benign |
Het |
Ubr3 |
T |
A |
2: 69,789,997 (GRCm39) |
Y884N |
probably damaging |
Het |
Upf3a |
C |
A |
8: 13,836,221 (GRCm39) |
H92Q |
probably damaging |
Het |
Vmn2r51 |
C |
T |
7: 9,836,341 (GRCm39) |
E147K |
probably benign |
Het |
Vps54 |
A |
G |
11: 21,245,403 (GRCm39) |
|
probably benign |
Het |
Zdhhc14 |
T |
C |
17: 5,762,738 (GRCm39) |
I214T |
possibly damaging |
Het |
|
Other mutations in Eml3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00933:Eml3
|
APN |
19 |
8,913,762 (GRCm39) |
nonsense |
probably null |
|
IGL01904:Eml3
|
APN |
19 |
8,914,130 (GRCm39) |
splice site |
probably benign |
|
IGL02557:Eml3
|
APN |
19 |
8,908,745 (GRCm39) |
unclassified |
probably benign |
|
IGL02795:Eml3
|
APN |
19 |
8,911,142 (GRCm39) |
missense |
probably benign |
0.43 |
IGL03160:Eml3
|
APN |
19 |
8,912,319 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03172:Eml3
|
APN |
19 |
8,916,543 (GRCm39) |
unclassified |
probably benign |
|
IGL03376:Eml3
|
APN |
19 |
8,911,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R0063:Eml3
|
UTSW |
19 |
8,915,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R0063:Eml3
|
UTSW |
19 |
8,915,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R0097:Eml3
|
UTSW |
19 |
8,914,015 (GRCm39) |
missense |
probably benign |
0.32 |
R0097:Eml3
|
UTSW |
19 |
8,914,015 (GRCm39) |
missense |
probably benign |
0.32 |
R0599:Eml3
|
UTSW |
19 |
8,916,427 (GRCm39) |
missense |
probably benign |
0.14 |
R0652:Eml3
|
UTSW |
19 |
8,910,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R0827:Eml3
|
UTSW |
19 |
8,915,830 (GRCm39) |
missense |
probably damaging |
0.98 |
R0841:Eml3
|
UTSW |
19 |
8,915,049 (GRCm39) |
missense |
probably benign |
|
R0880:Eml3
|
UTSW |
19 |
8,918,279 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0924:Eml3
|
UTSW |
19 |
8,910,675 (GRCm39) |
critical splice donor site |
probably null |
|
R1127:Eml3
|
UTSW |
19 |
8,913,672 (GRCm39) |
missense |
probably damaging |
0.99 |
R1156:Eml3
|
UTSW |
19 |
8,911,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R1160:Eml3
|
UTSW |
19 |
8,910,614 (GRCm39) |
missense |
probably benign |
0.00 |
R1427:Eml3
|
UTSW |
19 |
8,911,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R1497:Eml3
|
UTSW |
19 |
8,913,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R1679:Eml3
|
UTSW |
19 |
8,914,001 (GRCm39) |
missense |
probably damaging |
0.98 |
R1931:Eml3
|
UTSW |
19 |
8,914,507 (GRCm39) |
missense |
probably benign |
0.43 |
R2119:Eml3
|
UTSW |
19 |
8,911,718 (GRCm39) |
critical splice donor site |
probably null |
|
R4296:Eml3
|
UTSW |
19 |
8,908,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R5122:Eml3
|
UTSW |
19 |
8,915,060 (GRCm39) |
critical splice donor site |
probably null |
|
R5288:Eml3
|
UTSW |
19 |
8,916,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R5467:Eml3
|
UTSW |
19 |
8,914,946 (GRCm39) |
nonsense |
probably null |
|
R5836:Eml3
|
UTSW |
19 |
8,918,659 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5845:Eml3
|
UTSW |
19 |
8,916,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R5879:Eml3
|
UTSW |
19 |
8,912,379 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5881:Eml3
|
UTSW |
19 |
8,910,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R6011:Eml3
|
UTSW |
19 |
8,916,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R6247:Eml3
|
UTSW |
19 |
8,908,313 (GRCm39) |
missense |
probably benign |
|
R6777:Eml3
|
UTSW |
19 |
8,914,086 (GRCm39) |
missense |
probably benign |
|
R7132:Eml3
|
UTSW |
19 |
8,918,392 (GRCm39) |
missense |
probably benign |
0.25 |
R7169:Eml3
|
UTSW |
19 |
8,910,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R7896:Eml3
|
UTSW |
19 |
8,911,171 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8054:Eml3
|
UTSW |
19 |
8,916,414 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8354:Eml3
|
UTSW |
19 |
8,912,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R8361:Eml3
|
UTSW |
19 |
8,914,801 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8454:Eml3
|
UTSW |
19 |
8,912,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R8896:Eml3
|
UTSW |
19 |
8,914,056 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Eml3
|
UTSW |
19 |
8,914,803 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Eml3
|
UTSW |
19 |
8,914,925 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2013-11-05 |