Incidental Mutation 'IGL02480:Eml1'
| ID |
295174 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eml1
|
| Ensembl Gene |
ENSMUSG00000058070 |
| Gene Name |
echinoderm microtubule associated protein like 1 |
| Synonyms |
1110008N23Rik, heco, A930030P13Rik, ELP79 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
IGL02480
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
108337265-108505835 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 108487955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 556
(Q556K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054955]
[ENSMUST00000109857]
[ENSMUST00000109860]
[ENSMUST00000130999]
|
| AlphaFold |
Q05BC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054955
AA Change: Q525K
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000057209
Gene: ENSMUSG00000058070
AA Change: Q525K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
146 |
N/A |
INTRINSIC |
|
WD40
|
228 |
277 |
5.6e-3 |
SMART |
|
WD40
|
280 |
325 |
2.21e1 |
SMART |
|
WD40
|
328 |
367 |
4.46e-1 |
SMART |
|
WD40
|
375 |
413 |
5.73e0 |
SMART |
|
WD40
|
416 |
456 |
5.75e-1 |
SMART |
|
WD40
|
496 |
539 |
4.24e-3 |
SMART |
|
WD40
|
542 |
580 |
1.37e2 |
SMART |
|
WD40
|
583 |
622 |
1.7e-2 |
SMART |
|
WD40
|
629 |
668 |
1.58e-2 |
SMART |
|
Blast:WD40
|
694 |
735 |
7e-20 |
BLAST |
|
WD40
|
741 |
781 |
2.96e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109857
AA Change: Q542K
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105483
Gene: ENSMUSG00000058070
AA Change: Q542K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
146 |
N/A |
INTRINSIC |
|
WD40
|
245 |
294 |
5.6e-3 |
SMART |
|
WD40
|
297 |
342 |
2.21e1 |
SMART |
|
WD40
|
345 |
384 |
4.46e-1 |
SMART |
|
WD40
|
392 |
430 |
5.73e0 |
SMART |
|
WD40
|
433 |
473 |
5.75e-1 |
SMART |
|
WD40
|
513 |
556 |
4.24e-3 |
SMART |
|
WD40
|
559 |
597 |
1.37e2 |
SMART |
|
WD40
|
600 |
639 |
1.7e-2 |
SMART |
|
WD40
|
646 |
685 |
1.58e-2 |
SMART |
|
Blast:WD40
|
711 |
752 |
7e-20 |
BLAST |
|
WD40
|
758 |
798 |
2.96e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109860
AA Change: Q556K
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105486
Gene: ENSMUSG00000058070
AA Change: Q556K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
coiled coil region
|
31 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
177 |
N/A |
INTRINSIC |
|
Pfam:HELP
|
184 |
258 |
1.8e-35 |
PFAM |
|
WD40
|
259 |
308 |
5.6e-3 |
SMART |
|
WD40
|
311 |
356 |
2.21e1 |
SMART |
|
WD40
|
359 |
398 |
4.46e-1 |
SMART |
|
WD40
|
406 |
444 |
5.73e0 |
SMART |
|
WD40
|
447 |
487 |
5.75e-1 |
SMART |
|
WD40
|
527 |
570 |
4.24e-3 |
SMART |
|
WD40
|
573 |
611 |
1.37e2 |
SMART |
|
WD40
|
614 |
653 |
1.7e-2 |
SMART |
|
WD40
|
660 |
699 |
1.58e-2 |
SMART |
|
Blast:WD40
|
725 |
766 |
7e-20 |
BLAST |
|
WD40
|
772 |
812 |
2.96e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130999
AA Change: Q556K
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118325
Gene: ENSMUSG00000058070
AA Change: Q556K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
coiled coil region
|
31 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
177 |
N/A |
INTRINSIC |
|
WD40
|
259 |
308 |
5.6e-3 |
SMART |
|
WD40
|
311 |
356 |
2.21e1 |
SMART |
|
WD40
|
359 |
398 |
4.46e-1 |
SMART |
|
WD40
|
406 |
444 |
5.73e0 |
SMART |
|
WD40
|
447 |
487 |
5.75e-1 |
SMART |
|
WD40
|
527 |
570 |
4.24e-3 |
SMART |
|
WD40
|
573 |
611 |
1.37e2 |
SMART |
|
WD40
|
614 |
653 |
1.7e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155544
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit subcortical band heterotopia associated with seizures, developmental delay and behavioral deficits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
A |
3: 59,946,908 (GRCm39) |
I202K |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,221,869 (GRCm39) |
S169T |
possibly damaging |
Het |
| Acsm1 |
A |
T |
7: 119,255,265 (GRCm39) |
I389F |
possibly damaging |
Het |
| Actn2 |
T |
A |
13: 12,291,364 (GRCm39) |
Q680L |
probably benign |
Het |
| Ankrd13d |
G |
A |
19: 4,321,491 (GRCm39) |
P404S |
possibly damaging |
Het |
| Ankrd46 |
G |
T |
15: 36,484,142 (GRCm39) |
|
probably benign |
Het |
| Arfip1 |
A |
G |
3: 84,455,239 (GRCm39) |
|
probably null |
Het |
| Asb15 |
A |
T |
6: 24,570,745 (GRCm39) |
L574F |
probably damaging |
Het |
| Cym |
T |
C |
3: 107,120,838 (GRCm39) |
I256V |
probably benign |
Het |
| Cyp3a44 |
C |
T |
5: 145,731,715 (GRCm39) |
E144K |
possibly damaging |
Het |
| Efna1 |
T |
C |
3: 89,179,902 (GRCm39) |
E109G |
probably benign |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,213 (GRCm39) |
I225F |
probably damaging |
Het |
| Eml5 |
T |
G |
12: 98,842,502 (GRCm39) |
T199P |
probably damaging |
Het |
| Entr1 |
T |
A |
2: 26,275,132 (GRCm39) |
H342L |
probably damaging |
Het |
| Etl4 |
A |
C |
2: 20,793,335 (GRCm39) |
M687L |
probably damaging |
Het |
| Fam199x |
C |
A |
X: 135,950,788 (GRCm39) |
T56K |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,064,579 (GRCm39) |
D4845G |
probably damaging |
Het |
| Gm4987 |
T |
A |
X: 45,544,973 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
C |
A |
1: 16,839,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5930 |
T |
C |
14: 44,575,087 (GRCm39) |
Y68C |
probably benign |
Het |
| Gucy1a1 |
C |
T |
3: 82,005,040 (GRCm39) |
V582M |
probably damaging |
Het |
| Haghl |
G |
T |
17: 26,002,033 (GRCm39) |
A220E |
probably damaging |
Het |
| Hsf5 |
G |
A |
11: 87,522,483 (GRCm39) |
A359T |
possibly damaging |
Het |
| Igsf9 |
A |
T |
1: 172,312,345 (GRCm39) |
|
probably benign |
Het |
| Igsf9 |
C |
A |
1: 172,324,480 (GRCm39) |
D799E |
possibly damaging |
Het |
| Itga1 |
A |
T |
13: 115,124,184 (GRCm39) |
F703I |
probably damaging |
Het |
| Kcna6 |
G |
A |
6: 126,715,531 (GRCm39) |
P453S |
probably damaging |
Het |
| Lzic |
A |
T |
4: 149,571,260 (GRCm39) |
N15I |
probably damaging |
Het |
| Or1j10 |
T |
G |
2: 36,267,504 (GRCm39) |
C239G |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,314 (GRCm39) |
R89G |
probably benign |
Het |
| Or4f54 |
A |
G |
2: 111,122,858 (GRCm39) |
I82V |
possibly damaging |
Het |
| Or5p78 |
C |
T |
7: 108,212,018 (GRCm39) |
T168I |
probably benign |
Het |
| P4ha1 |
T |
C |
10: 59,179,574 (GRCm39) |
Y141H |
probably damaging |
Het |
| Paxx |
G |
A |
2: 25,350,024 (GRCm39) |
P164S |
probably damaging |
Het |
| Pgd |
A |
G |
4: 149,241,075 (GRCm39) |
V278A |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,798,526 (GRCm39) |
Y352C |
probably damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,571,843 (GRCm39) |
N614S |
possibly damaging |
Het |
| Poli |
T |
C |
18: 70,658,477 (GRCm39) |
T86A |
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,139,136 (GRCm39) |
R528H |
probably damaging |
Het |
| Ptchd4 |
G |
T |
17: 42,813,431 (GRCm39) |
C444F |
probably benign |
Het |
| Ptpra |
C |
A |
2: 130,346,181 (GRCm39) |
T114K |
probably benign |
Het |
| Rho |
A |
G |
6: 115,912,505 (GRCm39) |
N123S |
probably benign |
Het |
| Setd5 |
A |
G |
6: 113,120,770 (GRCm39) |
D993G |
probably damaging |
Het |
| Slc1a2 |
T |
C |
2: 102,566,411 (GRCm39) |
L38P |
probably damaging |
Het |
| Slc2a7 |
G |
A |
4: 150,244,569 (GRCm39) |
V346M |
possibly damaging |
Het |
| Slc43a1 |
A |
G |
2: 84,669,928 (GRCm39) |
I7V |
probably benign |
Het |
| Spag9 |
C |
T |
11: 93,999,413 (GRCm39) |
Q691* |
probably null |
Het |
| Timmdc1 |
A |
T |
16: 38,342,763 (GRCm39) |
V45D |
probably null |
Het |
| Tlr8 |
T |
A |
X: 166,027,179 (GRCm39) |
H557L |
probably damaging |
Het |
|
| Other mutations in Eml1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00770:Eml1
|
APN |
12 |
108,480,774 (GRCm39) |
splice site |
probably null |
|
|
IGL00774:Eml1
|
APN |
12 |
108,480,774 (GRCm39) |
splice site |
probably null |
|
|
IGL01358:Eml1
|
APN |
12 |
108,480,727 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02316:Eml1
|
APN |
12 |
108,501,018 (GRCm39) |
intron |
probably benign |
|
|
IGL02346:Eml1
|
APN |
12 |
108,503,700 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02513:Eml1
|
APN |
12 |
108,496,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02556:Eml1
|
APN |
12 |
108,503,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02565:Eml1
|
APN |
12 |
108,472,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03217:Eml1
|
APN |
12 |
108,501,201 (GRCm39) |
missense |
probably benign |
0.31 |
|
bubble
|
UTSW |
12 |
108,479,330 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0027:Eml1
|
UTSW |
12 |
108,502,557 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0067:Eml1
|
UTSW |
12 |
108,429,786 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0124:Eml1
|
UTSW |
12 |
108,475,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0124:Eml1
|
UTSW |
12 |
108,472,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0730:Eml1
|
UTSW |
12 |
108,496,585 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1566:Eml1
|
UTSW |
12 |
108,438,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1883:Eml1
|
UTSW |
12 |
108,429,911 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1927:Eml1
|
UTSW |
12 |
108,504,476 (GRCm39) |
nonsense |
probably null |
|
|
R1938:Eml1
|
UTSW |
12 |
108,487,655 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2070:Eml1
|
UTSW |
12 |
108,479,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2311:Eml1
|
UTSW |
12 |
108,503,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2417:Eml1
|
UTSW |
12 |
108,502,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3120:Eml1
|
UTSW |
12 |
108,479,312 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4352:Eml1
|
UTSW |
12 |
108,501,096 (GRCm39) |
intron |
probably benign |
|
|
R4471:Eml1
|
UTSW |
12 |
108,472,894 (GRCm39) |
intron |
probably benign |
|
|
R4655:Eml1
|
UTSW |
12 |
108,500,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5077:Eml1
|
UTSW |
12 |
108,472,871 (GRCm39) |
splice site |
probably benign |
|
|
R5094:Eml1
|
UTSW |
12 |
108,502,570 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5113:Eml1
|
UTSW |
12 |
108,503,596 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5524:Eml1
|
UTSW |
12 |
108,487,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5775:Eml1
|
UTSW |
12 |
108,472,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6120:Eml1
|
UTSW |
12 |
108,493,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6224:Eml1
|
UTSW |
12 |
108,480,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6491:Eml1
|
UTSW |
12 |
108,479,330 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7035:Eml1
|
UTSW |
12 |
108,475,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7134:Eml1
|
UTSW |
12 |
108,472,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7273:Eml1
|
UTSW |
12 |
108,504,432 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7606:Eml1
|
UTSW |
12 |
108,503,625 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7744:Eml1
|
UTSW |
12 |
108,482,863 (GRCm39) |
missense |
probably benign |
|
|
R7820:Eml1
|
UTSW |
12 |
108,481,433 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8013:Eml1
|
UTSW |
12 |
108,487,938 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8223:Eml1
|
UTSW |
12 |
108,502,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8258:Eml1
|
UTSW |
12 |
108,476,458 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8259:Eml1
|
UTSW |
12 |
108,476,458 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8399:Eml1
|
UTSW |
12 |
108,504,390 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8427:Eml1
|
UTSW |
12 |
108,496,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9002:Eml1
|
UTSW |
12 |
108,504,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9220:Eml1
|
UTSW |
12 |
108,480,702 (GRCm39) |
nonsense |
probably null |
|
|
R9432:Eml1
|
UTSW |
12 |
108,482,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9446:Eml1
|
UTSW |
12 |
108,481,465 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9500:Eml1
|
UTSW |
12 |
108,493,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Eml1
|
UTSW |
12 |
108,503,718 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1177:Eml1
|
UTSW |
12 |
108,500,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Eml1
|
UTSW |
12 |
108,389,398 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation