Incidental Mutation 'R0841:Eml3'
| ID |
77189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml3
|
| Ensembl Gene |
ENSMUSG00000071647 |
| Gene Name |
echinoderm microtubule associated protein like 3 |
| Synonyms |
|
| MMRRC Submission |
039020-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.802)
|
| Stock # |
R0841 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8906916-8918946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 8915049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 635
(M635I)
|
| 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 benign
Transcript: ENSMUST00000096241
AA Change: M636I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647
AA Change: M636I
| 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 benign
Transcript: ENSMUST00000224272
AA Change: M635I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224642
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225181
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226096
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.4%
- 20x: 94.1%
|
| Validation Efficiency |
94% (45/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
T |
A |
4: 73,860,986 (GRCm39) |
M205L |
probably benign |
Het |
| Aass |
A |
T |
6: 23,075,810 (GRCm39) |
C776S |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,488,639 (GRCm39) |
S1257P |
possibly damaging |
Het |
| Arhgap9 |
T |
A |
10: 127,165,508 (GRCm39) |
M639K |
probably damaging |
Het |
| Ctsj |
C |
T |
13: 61,150,357 (GRCm39) |
S214N |
probably damaging |
Het |
| Dnali1 |
T |
C |
4: 124,959,340 (GRCm39) |
S18G |
possibly damaging |
Het |
| Eif4g3 |
C |
T |
4: 137,893,129 (GRCm39) |
T959M |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,727,430 (GRCm39) |
F1231L |
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,050,147 (GRCm39) |
K4003T |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Fgfr2 |
G |
A |
7: 129,863,635 (GRCm39) |
P4S |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 130,373,737 (GRCm39) |
|
probably benign |
Het |
| Glp1r |
T |
C |
17: 31,138,406 (GRCm39) |
V160A |
probably benign |
Het |
| Gm9726 |
C |
T |
12: 93,895,054 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9956 |
C |
A |
10: 56,621,424 (GRCm39) |
L29M |
unknown |
Het |
| Gm9956 |
T |
A |
10: 56,621,425 (GRCm39) |
L29Q |
unknown |
Het |
| Hddc3 |
T |
A |
7: 79,995,401 (GRCm39) |
S139T |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,555,358 (GRCm39) |
|
probably null |
Het |
| Inpp5k |
T |
C |
11: 75,524,285 (GRCm39) |
|
probably benign |
Het |
| Kcnq1 |
A |
G |
7: 142,661,189 (GRCm39) |
K32E |
probably benign |
Het |
| Krtdap |
A |
T |
7: 30,488,975 (GRCm39) |
|
probably benign |
Het |
| Ldb2 |
A |
G |
5: 44,690,016 (GRCm39) |
L201P |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,752,032 (GRCm39) |
V4590A |
probably benign |
Het |
| Nip7 |
C |
A |
8: 107,784,007 (GRCm39) |
H82Q |
probably benign |
Het |
| Odad2 |
G |
T |
18: 7,268,436 (GRCm39) |
P361Q |
probably damaging |
Het |
| Or52l1 |
A |
T |
7: 104,830,061 (GRCm39) |
V168E |
probably damaging |
Het |
| Otud6b |
T |
A |
4: 14,812,532 (GRCm39) |
T272S |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,309,186 (GRCm39) |
V1131A |
probably damaging |
Het |
| Prl7a1 |
T |
A |
13: 27,826,393 (GRCm39) |
|
probably benign |
Het |
| Sipa1 |
C |
A |
19: 5,704,835 (GRCm39) |
A587S |
probably benign |
Het |
| Slc17a6 |
A |
T |
7: 51,275,063 (GRCm39) |
I41F |
probably benign |
Het |
| Slc43a2 |
T |
A |
11: 75,457,815 (GRCm39) |
Y363* |
probably null |
Het |
| Smg1 |
A |
T |
7: 117,742,524 (GRCm39) |
L3230Q |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,780 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,121,209 (GRCm39) |
|
probably benign |
Het |
| Tap2 |
C |
A |
17: 34,434,914 (GRCm39) |
D652E |
possibly damaging |
Het |
| Trp53rkb |
T |
C |
2: 166,637,430 (GRCm39) |
C129R |
probably benign |
Het |
| Ugt2a2 |
T |
C |
5: 87,622,648 (GRCm39) |
T317A |
probably benign |
Het |
| Ugt3a1 |
G |
A |
15: 9,306,214 (GRCm39) |
S121N |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,511,247 (GRCm39) |
V85A |
probably damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,267,749 (GRCm39) |
T68A |
possibly damaging |
Het |
| Zfp7 |
G |
A |
15: 76,775,704 (GRCm39) |
C582Y |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTACTGAGGGGAGATCTGGCTCAAG -3'
(R):5'- CACCTAGCAGTGCTACAGATGAACC -3'
Sequencing Primer
(F):5'- AGATCTGGCTCAAGGCTTC -3'
(R):5'- TCTGAGGCAGCAGCAAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation