Incidental Mutation 'R6011:Eml3'
| ID |
479780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml3
|
| Ensembl Gene |
ENSMUSG00000071647 |
| Gene Name |
echinoderm microtubule associated protein like 3 |
| Synonyms |
|
| MMRRC Submission |
043253-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.802)
|
| Stock # |
R6011 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
8906916-8918946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8916471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 688
(Y688H)
|
| 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 damaging
Transcript: ENSMUST00000096241
AA Change: Y689H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647
AA Change: Y689H
| 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 |
probably damaging
Transcript: ENSMUST00000224272
AA Change: Y688H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224642
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225181
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225377
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,136,570 (GRCm39) |
N533K |
probably benign |
Het |
| Adamts15 |
G |
T |
9: 30,814,082 (GRCm39) |
H694Q |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 34,977,598 (GRCm39) |
L377P |
probably benign |
Het |
| Add2 |
T |
C |
6: 86,075,607 (GRCm39) |
L252P |
probably damaging |
Het |
| Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
| Ankrd13d |
A |
G |
19: 4,331,962 (GRCm39) |
L39P |
probably damaging |
Het |
| Asic1 |
G |
T |
15: 99,596,960 (GRCm39) |
A541S |
probably benign |
Het |
| Bhmt1b |
A |
G |
18: 87,774,663 (GRCm39) |
E62G |
probably damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,731,496 (GRCm39) |
|
probably null |
Het |
| Catsper3 |
A |
G |
13: 55,934,305 (GRCm39) |
I75M |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,601,532 (GRCm39) |
E837G |
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,705,315 (GRCm39) |
P557L |
probably benign |
Het |
| Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,523,038 (GRCm39) |
D140E |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,130,380 (GRCm39) |
K72E |
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,738,084 (GRCm39) |
|
probably null |
Het |
| Disp2 |
G |
A |
2: 118,621,301 (GRCm39) |
V678I |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,867,756 (GRCm39) |
|
probably null |
Het |
| Fam187a |
A |
G |
11: 102,776,267 (GRCm39) |
K24E |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,068 (GRCm38) |
K134E |
probably benign |
Het |
| Foxl3 |
A |
G |
5: 138,807,374 (GRCm39) |
*217W |
probably null |
Het |
| Gm16485 |
A |
T |
9: 8,972,454 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Hmgxb3 |
G |
A |
18: 61,296,096 (GRCm39) |
T304I |
probably damaging |
Het |
| Lgsn |
A |
G |
1: 31,242,847 (GRCm39) |
S310G |
probably damaging |
Het |
| Muc21 |
T |
A |
17: 35,933,074 (GRCm39) |
|
probably benign |
Het |
| Niban2 |
T |
C |
2: 32,812,877 (GRCm39) |
Y482H |
probably damaging |
Het |
| Or12e13 |
A |
G |
2: 87,664,259 (GRCm39) |
N292S |
probably damaging |
Het |
| Or4k42 |
C |
A |
2: 111,320,192 (GRCm39) |
A104S |
probably benign |
Het |
| Or6c8b |
A |
T |
10: 128,882,508 (GRCm39) |
H141Q |
probably benign |
Het |
| Or7g25 |
T |
A |
9: 19,159,807 (GRCm39) |
E296V |
probably damaging |
Het |
| Or9i1b |
G |
A |
19: 13,896,521 (GRCm39) |
V46I |
probably benign |
Het |
| Pelo |
A |
G |
13: 115,226,302 (GRCm39) |
S52P |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,096,080 (GRCm39) |
N528S |
probably benign |
Het |
| Rfc3 |
T |
A |
5: 151,567,184 (GRCm39) |
I291L |
probably damaging |
Het |
| Rpl35 |
A |
T |
2: 38,894,813 (GRCm39) |
|
probably null |
Het |
| Sectm1b |
C |
T |
11: 120,946,704 (GRCm39) |
V64I |
possibly damaging |
Het |
| Serpina12 |
A |
G |
12: 104,001,993 (GRCm39) |
M241T |
probably damaging |
Het |
| Serpina1a |
T |
A |
12: 103,823,728 (GRCm39) |
D195V |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,226,708 (GRCm39) |
V129M |
probably damaging |
Het |
| Slc4a1 |
A |
C |
11: 102,243,357 (GRCm39) |
V758G |
probably damaging |
Het |
| Tmx4 |
A |
T |
2: 134,481,756 (GRCm39) |
Y56N |
probably damaging |
Het |
| Traj50 |
T |
C |
14: 54,405,091 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
G |
15: 27,735,631 (GRCm39) |
K2820Q |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,434,309 (GRCm39) |
G2417S |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,922,923 (GRCm39) |
D665G |
possibly 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 |
|
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 |
|
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'- AGCCCCTCAGCACTTCTATG -3'
(R):5'- AAAGCGGCTGGACTTAGTG -3'
Sequencing Primer
(F):5'- GACACCACAGCCTGATATTCTGTC -3'
(R):5'- TGGACTTAGTGCCACAACTG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation