Incidental Mutation 'IGL02557:Eml3'
| ID |
298361 |
| 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 # |
IGL02557
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
8906916-8918946 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 8908745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096241]
[ENSMUST00000096242]
[ENSMUST00000096243]
[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: ENSMUST00000096243
|
| SMART Domains |
Protein: ENSMUSP00000093962
Gene: ENSMUSG00000071649
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
75 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_43
|
96 |
312 |
1.8e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224272
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224642
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225054
|
| 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 |
|---|
| AA986860 |
C |
T |
1: 130,670,444 (GRCm39) |
P222L |
probably benign |
Het |
| Alg12 |
T |
A |
15: 88,700,410 (GRCm39) |
K9* |
probably null |
Het |
| Arhgap20 |
T |
C |
9: 51,732,573 (GRCm39) |
V119A |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,857,472 (GRCm39) |
Y178H |
probably damaging |
Het |
| Atad2 |
A |
T |
15: 57,985,993 (GRCm39) |
S243T |
probably benign |
Het |
| Atp13a5 |
A |
C |
16: 29,066,934 (GRCm39) |
F1013V |
probably benign |
Het |
| Atp1a2 |
T |
G |
1: 172,106,218 (GRCm39) |
T865P |
possibly damaging |
Het |
| Bcas2 |
T |
C |
3: 103,079,183 (GRCm39) |
|
probably benign |
Het |
| Ccnk |
T |
C |
12: 108,161,985 (GRCm39) |
S297P |
unknown |
Het |
| Cdk5 |
A |
T |
5: 24,624,651 (GRCm39) |
S215T |
probably benign |
Het |
| Ciita |
T |
A |
16: 10,329,879 (GRCm39) |
L798Q |
probably damaging |
Het |
| Clcn2 |
A |
G |
16: 20,527,214 (GRCm39) |
S584P |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,751,496 (GRCm39) |
Y384C |
probably damaging |
Het |
| Cyp2b10 |
T |
A |
7: 25,614,306 (GRCm39) |
V260D |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,790,300 (GRCm39) |
H78Q |
probably damaging |
Het |
| Fcgr2b |
C |
A |
1: 170,790,891 (GRCm39) |
|
probably null |
Het |
| Fryl |
A |
T |
5: 73,255,736 (GRCm39) |
L765Q |
probably damaging |
Het |
| Gas2 |
T |
A |
7: 51,537,681 (GRCm39) |
M2K |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,931,501 (GRCm39) |
K44E |
unknown |
Het |
| Gm42878 |
A |
G |
5: 121,665,194 (GRCm39) |
S205P |
possibly damaging |
Het |
| Hcn3 |
A |
T |
3: 89,057,178 (GRCm39) |
S473R |
probably damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,046,817 (GRCm39) |
E65G |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,757,392 (GRCm39) |
V375E |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,832,725 (GRCm39) |
C1642* |
probably null |
Het |
| Lsr |
T |
G |
7: 30,657,919 (GRCm39) |
E347A |
possibly damaging |
Het |
| Mapre2 |
C |
A |
18: 23,966,014 (GRCm39) |
T33K |
probably damaging |
Het |
| Myo3b |
T |
A |
2: 70,085,663 (GRCm39) |
F772I |
probably benign |
Het |
| Myorg |
C |
T |
4: 41,497,900 (GRCm39) |
V577M |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,411,029 (GRCm39) |
V891A |
probably damaging |
Het |
| Neurl4 |
A |
T |
11: 69,797,161 (GRCm39) |
I583F |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,460,261 (GRCm39) |
S2163P |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,031,537 (GRCm39) |
Y288H |
probably damaging |
Het |
| Or10ak8 |
T |
C |
4: 118,774,389 (GRCm39) |
T92A |
probably benign |
Het |
| Or4c107 |
A |
G |
2: 88,789,025 (GRCm39) |
I72V |
probably benign |
Het |
| Pak1 |
A |
G |
7: 97,520,794 (GRCm39) |
E151G |
probably benign |
Het |
| Phtf1 |
A |
G |
3: 103,906,081 (GRCm39) |
N588D |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,371,391 (GRCm39) |
T756A |
possibly damaging |
Het |
| Ptgfrn |
C |
T |
3: 100,967,952 (GRCm39) |
|
probably null |
Het |
| Seh1l |
T |
C |
18: 67,922,483 (GRCm39) |
S279P |
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,564,411 (GRCm39) |
M35K |
probably damaging |
Het |
| Spesp1 |
T |
C |
9: 62,180,416 (GRCm39) |
E164G |
possibly damaging |
Het |
| Sprr3 |
T |
C |
3: 92,364,473 (GRCm39) |
T124A |
possibly damaging |
Het |
| Trim24 |
A |
C |
6: 37,942,434 (GRCm39) |
|
probably null |
Het |
| Unc79 |
A |
G |
12: 103,148,418 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,342 (GRCm39) |
|
probably benign |
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 |
|
|
IGL01398:Eml3
|
APN |
19 |
8,911,598 (GRCm39) |
splice site |
probably benign |
|
|
IGL01904:Eml3
|
APN |
19 |
8,914,130 (GRCm39) |
splice site |
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 |
2015-04-16 |
Incidental Mutation