Incidental Mutation 'R0880:Eml3'
ID |
80490 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eml3
|
Ensembl Gene |
ENSMUSG00000071647 |
Gene Name |
echinoderm microtubule associated protein like 3 |
Synonyms |
|
MMRRC Submission |
039047-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.802)
|
Stock # |
R0880 (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 8918279 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 790
(D790G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153500
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096240]
[ENSMUST00000096241]
[ENSMUST00000224272]
[ENSMUST00000224642]
|
AlphaFold |
Q8VC03 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096240
|
SMART Domains |
Protein: ENSMUSP00000093959 Gene: ENSMUSG00000071646
Domain | Start | End | E-Value | Type |
BAH
|
4 |
144 |
7.34e-34 |
SMART |
ELM2
|
147 |
201 |
5.58e-15 |
SMART |
SANT
|
264 |
313 |
2.24e-7 |
SMART |
ZnF_GATA
|
361 |
415 |
5.5e-15 |
SMART |
low complexity region
|
475 |
490 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096241
AA Change: D791G
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000093960 Gene: ENSMUSG00000071647 AA Change: D791G
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 |
noncoding transcript
Transcript: ENSMUST00000132463
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135300
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137956
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169535
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224272
AA Change: D790G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226096
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224642
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225377
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225181
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225054
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 92.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,537,609 (GRCm39) |
Y701H |
possibly damaging |
Het |
Akap6 |
A |
G |
12: 53,186,291 (GRCm39) |
D1235G |
possibly damaging |
Het |
Arhgef18 |
A |
G |
8: 3,439,032 (GRCm39) |
|
probably benign |
Het |
Astn2 |
A |
G |
4: 65,566,567 (GRCm39) |
Y812H |
probably damaging |
Het |
Bmpr1b |
G |
T |
3: 141,576,557 (GRCm39) |
S92* |
probably null |
Het |
Camsap2 |
T |
C |
1: 136,208,708 (GRCm39) |
D934G |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,242,200 (GRCm39) |
V1076A |
possibly damaging |
Het |
Cdhr1 |
T |
C |
14: 36,802,591 (GRCm39) |
D624G |
possibly damaging |
Het |
Cfap57 |
A |
T |
4: 118,439,035 (GRCm39) |
Y830* |
probably null |
Het |
Ess2 |
A |
G |
16: 17,729,051 (GRCm39) |
V40A |
probably damaging |
Het |
Gucy2c |
T |
C |
6: 136,686,830 (GRCm39) |
|
probably null |
Het |
Helz2 |
A |
C |
2: 180,877,928 (GRCm39) |
S957A |
probably benign |
Het |
Ifi209 |
T |
A |
1: 173,472,379 (GRCm39) |
S407T |
probably damaging |
Het |
Iftap |
T |
A |
2: 101,406,455 (GRCm39) |
T158S |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,217,270 (GRCm39) |
T2403A |
possibly damaging |
Het |
Nfe2 |
T |
C |
15: 103,157,689 (GRCm39) |
N101D |
probably damaging |
Het |
Nsf |
A |
T |
11: 103,804,198 (GRCm39) |
V178D |
possibly damaging |
Het |
P4ha3 |
A |
G |
7: 99,955,116 (GRCm39) |
T324A |
probably benign |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Rhbdf1 |
T |
C |
11: 32,163,432 (GRCm39) |
|
probably null |
Het |
Samd9l |
G |
A |
6: 3,377,064 (GRCm39) |
L66F |
probably damaging |
Het |
Speg |
T |
C |
1: 75,381,705 (GRCm39) |
F1024S |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,452,869 (GRCm39) |
N2859S |
possibly damaging |
Het |
Tnfrsf21 |
G |
A |
17: 43,348,733 (GRCm39) |
W115* |
probably null |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGGCTACCTATACCTGTGTGCTG -3'
(R):5'- AGCATCCTTGCCACCTAAGGAGAC -3'
Sequencing Primer
(F):5'- CCAGGATCTGGAATCCGTTAG -3'
(R):5'- CGAGCACATGGGTACTGAAA -3'
|
Posted On |
2013-11-07 |