Incidental Mutation 'R1160:Eml3'
ID |
100373 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eml3
|
Ensembl Gene |
ENSMUSG00000071647 |
Gene Name |
echinoderm microtubule associated protein like 3 |
Synonyms |
|
MMRRC Submission |
039233-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.802)
|
Stock # |
R1160 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
8906916-8918946 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 8910614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 192
(N192S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153500
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096241]
[ENSMUST00000096242]
[ENSMUST00000224272]
[ENSMUST00000224642]
|
AlphaFold |
Q8VC03 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096241
AA Change: N193S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000093960 Gene: ENSMUSG00000071647 AA Change: N193S
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
AA Change: N192S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224642
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225054
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225181
|
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 92.7%
- 20x: 81.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
G |
T |
1: 89,770,876 (GRCm39) |
K622N |
probably damaging |
Het |
Ap3b2 |
A |
T |
7: 81,115,917 (GRCm39) |
|
probably null |
Het |
Arl5b |
T |
C |
2: 15,074,648 (GRCm39) |
V43A |
probably benign |
Het |
Astn1 |
T |
C |
1: 158,427,935 (GRCm39) |
V702A |
possibly damaging |
Het |
Bach1 |
T |
C |
16: 87,512,322 (GRCm39) |
V15A |
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Ccar2 |
C |
T |
14: 70,377,218 (GRCm39) |
V774M |
probably benign |
Het |
Dcaf5 |
T |
C |
12: 80,386,989 (GRCm39) |
D379G |
possibly damaging |
Het |
Dcpp1 |
T |
A |
17: 24,100,405 (GRCm39) |
I45K |
possibly damaging |
Het |
Ddx17 |
T |
A |
15: 79,425,288 (GRCm39) |
S128C |
probably damaging |
Het |
Epha3 |
T |
G |
16: 63,593,431 (GRCm39) |
D219A |
probably damaging |
Het |
Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
Khdc4 |
C |
A |
3: 88,616,169 (GRCm39) |
P452Q |
probably damaging |
Het |
Klhl5 |
A |
G |
5: 65,298,683 (GRCm39) |
N154S |
probably benign |
Het |
Lrif1 |
A |
G |
3: 106,640,033 (GRCm39) |
N373D |
possibly damaging |
Het |
Map3k20 |
A |
G |
2: 72,271,864 (GRCm39) |
N664S |
probably benign |
Het |
Or52z15 |
A |
G |
7: 103,332,068 (GRCm39) |
N38D |
possibly damaging |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Pglyrp4 |
T |
A |
3: 90,636,138 (GRCm39) |
|
probably null |
Het |
Pole |
A |
G |
5: 110,443,119 (GRCm39) |
E349G |
possibly damaging |
Het |
Ptprj |
A |
G |
2: 90,274,868 (GRCm39) |
Y1165H |
probably damaging |
Het |
Rasd1 |
T |
A |
11: 59,855,547 (GRCm39) |
I29F |
possibly damaging |
Het |
Scamp3 |
T |
C |
3: 89,088,505 (GRCm39) |
F237S |
probably damaging |
Het |
Sccpdh |
T |
G |
1: 179,511,775 (GRCm39) |
D82E |
probably benign |
Het |
Slc19a3 |
A |
C |
1: 83,000,413 (GRCm39) |
H201Q |
possibly damaging |
Het |
Slc5a4a |
G |
A |
10: 76,013,995 (GRCm39) |
A401T |
possibly damaging |
Het |
Snupn |
T |
G |
9: 56,864,389 (GRCm39) |
C29W |
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,223,613 (GRCm39) |
Y222C |
probably damaging |
Het |
Sox17 |
A |
T |
1: 4,562,075 (GRCm39) |
V310E |
probably damaging |
Het |
Srgap1 |
T |
A |
10: 121,691,382 (GRCm39) |
Y284F |
probably benign |
Het |
Srpk1 |
C |
A |
17: 28,818,748 (GRCm39) |
V363F |
probably benign |
Het |
Syt13 |
T |
A |
2: 92,773,387 (GRCm39) |
|
probably null |
Het |
Taf2 |
A |
G |
15: 54,934,793 (GRCm39) |
V45A |
probably benign |
Het |
Tal1 |
A |
T |
4: 114,925,813 (GRCm39) |
D294V |
probably damaging |
Het |
Tbl2 |
A |
G |
5: 135,188,246 (GRCm39) |
T347A |
probably benign |
Het |
Tet3 |
A |
G |
6: 83,381,434 (GRCm39) |
S110P |
probably benign |
Het |
Tmem132a |
A |
G |
19: 10,835,938 (GRCm39) |
V864A |
probably damaging |
Het |
Trak1 |
T |
C |
9: 121,221,073 (GRCm39) |
I80T |
probably benign |
Het |
Trappc6b |
G |
A |
12: 59,097,064 (GRCm39) |
T86I |
probably damaging |
Het |
Usf3 |
T |
A |
16: 44,038,910 (GRCm39) |
I1130N |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,340,231 (GRCm39) |
V824A |
possibly damaging |
Het |
Zfp810 |
T |
C |
9: 22,189,828 (GRCm39) |
Y360C |
possibly damaging |
Het |
Zmiz1 |
T |
A |
14: 25,654,936 (GRCm39) |
V685E |
probably damaging |
Het |
Zp2 |
A |
T |
7: 119,735,268 (GRCm39) |
D368E |
probably 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 |
|
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 |
|
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 |
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 |
|
|
Predicted Primers |
|
Posted On |
2014-01-15 |