Incidental Mutation 'R5467:Eml3'
ID |
433304 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eml3
|
Ensembl Gene |
ENSMUSG00000071647 |
Gene Name |
echinoderm microtubule associated protein like 3 |
Synonyms |
|
MMRRC Submission |
043028-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.802)
|
Stock # |
R5467 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
8906916-8918946 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 8914946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 601
(W601*)
|
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 |
probably null
Transcript: ENSMUST00000096241
AA Change: W602*
|
SMART Domains |
Protein: ENSMUSP00000093960 Gene: ENSMUSG00000071647 AA Change: W602*
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: ENSMUST00000135300
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137956
|
Predicted Effect |
probably null
Transcript: ENSMUST00000224272
AA Change: W601*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224642
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225181
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226096
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225054
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225377
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 94.9%
- 20x: 89.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
A |
G |
12: 80,222,991 (GRCm39) |
M525T |
possibly damaging |
Het |
Arpc5l |
T |
C |
2: 38,903,751 (GRCm39) |
V80A |
possibly damaging |
Het |
Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
Bltp3b |
G |
T |
10: 89,640,961 (GRCm39) |
G711W |
probably damaging |
Het |
Celsr3 |
A |
T |
9: 108,705,836 (GRCm39) |
D773V |
probably damaging |
Het |
Clcn6 |
A |
T |
4: 148,102,093 (GRCm39) |
H330Q |
possibly damaging |
Het |
Cwc22 |
ATCTCTCTCTCTCTCTCT |
ATCTCTCTCTCTCTCT |
2: 77,759,803 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
C |
A |
7: 130,642,723 (GRCm39) |
S180R |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Elovl7 |
T |
C |
13: 108,416,156 (GRCm39) |
V182A |
probably benign |
Het |
Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,927,912 (GRCm39) |
Y3775F |
probably benign |
Het |
Gns |
T |
C |
10: 121,227,351 (GRCm39) |
W454R |
probably benign |
Het |
Katnip |
T |
C |
7: 125,442,527 (GRCm39) |
F812S |
possibly damaging |
Het |
Kcnh2 |
A |
T |
5: 24,531,765 (GRCm39) |
L40* |
probably null |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Lrrc37 |
G |
T |
11: 103,494,091 (GRCm39) |
C655* |
probably null |
Het |
Mgl2 |
T |
A |
11: 70,025,878 (GRCm39) |
I31N |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,216,448 (GRCm39) |
T2677A |
possibly damaging |
Het |
Ndst1 |
A |
G |
18: 60,825,093 (GRCm39) |
S742P |
probably benign |
Het |
Or10g6 |
G |
T |
9: 39,933,733 (GRCm39) |
V15L |
probably benign |
Het |
Or1o11 |
G |
T |
17: 37,756,973 (GRCm39) |
C187F |
probably damaging |
Het |
Or4d6 |
A |
C |
19: 12,086,023 (GRCm39) |
S70A |
probably benign |
Het |
Or5b112 |
A |
T |
19: 13,319,521 (GRCm39) |
Y133F |
probably damaging |
Het |
Or8g21 |
T |
C |
9: 38,906,200 (GRCm39) |
Y177C |
probably benign |
Het |
Pcdhb22 |
A |
G |
18: 37,653,188 (GRCm39) |
D552G |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,291,654 (GRCm39) |
V1291E |
probably damaging |
Het |
Ppp4r3a |
T |
C |
12: 101,009,729 (GRCm39) |
E636G |
probably damaging |
Het |
Prl5a1 |
A |
T |
13: 28,333,994 (GRCm39) |
I166L |
possibly damaging |
Het |
Rb1 |
T |
C |
14: 73,449,060 (GRCm39) |
D690G |
possibly damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,123,759 (GRCm39) |
H840R |
possibly damaging |
Het |
Skida1 |
T |
C |
2: 18,050,923 (GRCm39) |
|
probably benign |
Het |
Slc31a2 |
A |
G |
4: 62,210,924 (GRCm39) |
H19R |
probably damaging |
Het |
Styxl2 |
C |
A |
1: 165,939,599 (GRCm39) |
|
probably null |
Het |
Tnks2 |
A |
T |
19: 36,859,176 (GRCm39) |
R314W |
probably damaging |
Het |
Trak1 |
A |
G |
9: 121,275,864 (GRCm39) |
D189G |
probably damaging |
Het |
Trav13n-4 |
T |
A |
14: 53,601,303 (GRCm39) |
V24E |
probably damaging |
Het |
Ylpm1 |
T |
C |
12: 85,043,633 (GRCm39) |
Y124H |
unknown |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
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 |
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'- ATTGCTGAAGGGCTTGGCTC -3'
(R):5'- TAACCACAGTACAGTCAGTTCTCC -3'
Sequencing Primer
(F):5'- CTCTGAGCTGCTGGTGGGAAC -3'
(R):5'- GTACAGTCAGTTCTCCCAGAC -3'
|
Posted On |
2016-10-06 |