Incidental Mutation 'IGL03376:Eml3'
| ID |
420479 |
| 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: 0.792)
|
| Stock # |
IGL03376
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
8906916-8918946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8911154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 260
(D260G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096241]
[ENSMUST00000096242]
[ENSMUST00000224272]
[ENSMUST00000224642]
|
| AlphaFold |
Q8VC03 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096241
AA Change: D261G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647
AA Change: D261G
| 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 damaging
Transcript: ENSMUST00000224272
AA Change: D260G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v1b2 |
T |
C |
8: 69,554,811 (GRCm39) |
|
probably benign |
Het |
| Ccdc122 |
A |
G |
14: 77,306,352 (GRCm39) |
E41G |
probably damaging |
Het |
| Cdh3 |
C |
T |
8: 107,268,036 (GRCm39) |
T357I |
probably benign |
Het |
| Cfap57 |
T |
A |
4: 118,441,917 (GRCm39) |
Q717L |
probably damaging |
Het |
| Cfap58 |
A |
T |
19: 48,023,164 (GRCm39) |
T859S |
possibly damaging |
Het |
| Cmtr1 |
C |
T |
17: 29,910,385 (GRCm39) |
R497C |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,411,464 (GRCm39) |
I2494T |
probably benign |
Het |
| Dmkn |
C |
T |
7: 30,470,667 (GRCm39) |
T385I |
possibly damaging |
Het |
| Gbf1 |
T |
C |
19: 46,250,960 (GRCm39) |
F493L |
possibly damaging |
Het |
| Gjb5 |
C |
T |
4: 127,250,048 (GRCm39) |
R32H |
probably damaging |
Het |
| Hpx |
C |
T |
7: 105,241,458 (GRCm39) |
|
probably benign |
Het |
| Ikzf3 |
T |
A |
11: 98,379,779 (GRCm39) |
H163L |
probably damaging |
Het |
| Irak3 |
G |
A |
10: 119,982,541 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,211,584 (GRCm39) |
V275I |
probably benign |
Het |
| Klc1 |
G |
T |
12: 111,742,387 (GRCm39) |
E174D |
probably damaging |
Het |
| Ly6g6e |
A |
G |
17: 35,297,208 (GRCm39) |
*108W |
probably null |
Het |
| Mcph1 |
T |
C |
8: 18,646,989 (GRCm39) |
S31P |
probably damaging |
Het |
| Mettl4 |
A |
T |
17: 95,042,799 (GRCm39) |
S346T |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,490,086 (GRCm39) |
|
probably benign |
Het |
| Or2ag19 |
T |
A |
7: 106,444,677 (GRCm39) |
N286K |
probably damaging |
Het |
| Otol1 |
A |
G |
3: 69,934,845 (GRCm39) |
E279G |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,115,071 (GRCm39) |
N722K |
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,319,947 (GRCm39) |
S449P |
probably damaging |
Het |
| Rassf9 |
A |
G |
10: 102,381,059 (GRCm39) |
N145S |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,753,380 (GRCm39) |
I158M |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,173,219 (GRCm39) |
|
probably benign |
Het |
| Slc30a8 |
C |
T |
15: 52,169,853 (GRCm39) |
R27* |
probably null |
Het |
| Tmco2 |
T |
A |
4: 120,966,249 (GRCm39) |
T36S |
probably benign |
Het |
| Tns4 |
T |
C |
11: 98,969,382 (GRCm39) |
S360G |
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,420,574 (GRCm39) |
|
probably null |
Het |
| Wwc1 |
C |
T |
11: 35,743,121 (GRCm39) |
R900Q |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,767,377 (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 |
|
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation