Incidental Mutation 'R0027:Eml1'
| ID |
44534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml1
|
| Ensembl Gene |
ENSMUSG00000058070 |
| Gene Name |
echinoderm microtubule associated protein like 1 |
| Synonyms |
1110008N23Rik, heco, A930030P13Rik, ELP79 |
| MMRRC Submission |
038322-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R0027 (G1)
of strain
730
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
12 |
| Chromosomal Location |
108337265-108505835 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108502557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 708
(C708R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054955]
[ENSMUST00000109857]
[ENSMUST00000109860]
[ENSMUST00000130999]
|
| AlphaFold |
Q05BC3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054955
AA Change: C691R
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000057209
Gene: ENSMUSG00000058070
AA Change: C691R
| 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 |
possibly damaging
Transcript: ENSMUST00000109857
AA Change: C708R
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105483
Gene: ENSMUSG00000058070
AA Change: C708R
| 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 |
possibly damaging
Transcript: ENSMUST00000109860
AA Change: C722R
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105486
Gene: ENSMUSG00000058070
AA Change: C722R
| 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 |
noncoding transcript
Transcript: ENSMUST00000123035
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130999
|
| SMART Domains |
Protein: ENSMUSP00000118325
Gene: ENSMUSG00000058070
| 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: ENSMUST00000148186
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220796
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223178
|
| Meta Mutation Damage Score |
0.9225 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
98% (65/66) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
T |
15: 11,285,959 (GRCm39) |
I723F |
probably damaging |
Het |
| Anapc1 |
G |
T |
2: 128,483,431 (GRCm39) |
D1221E |
possibly damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,082,204 (GRCm39) |
E1201V |
possibly damaging |
Het |
| Capn12 |
T |
A |
7: 28,581,385 (GRCm39) |
H79Q |
probably benign |
Het |
| Caprin1 |
A |
T |
2: 103,605,925 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
T |
A |
14: 55,731,860 (GRCm39) |
F196Y |
probably damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,643,810 (GRCm39) |
H961R |
probably benign |
Het |
| Cdkl3 |
C |
T |
11: 51,923,176 (GRCm39) |
|
probably benign |
Het |
| Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
| Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,685,940 (GRCm39) |
L684P |
unknown |
Het |
| D430041D05Rik |
A |
T |
2: 104,085,389 (GRCm39) |
F1053L |
probably benign |
Het |
| Dab1 |
T |
C |
4: 104,561,396 (GRCm39) |
|
probably benign |
Het |
| Dmxl1 |
A |
T |
18: 50,090,362 (GRCm39) |
|
probably benign |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Fam131b |
T |
A |
6: 42,295,182 (GRCm39) |
M304L |
probably benign |
Het |
| Foxk1 |
A |
T |
5: 142,436,095 (GRCm39) |
I321F |
probably damaging |
Het |
| Gm10306 |
C |
T |
4: 94,445,027 (GRCm39) |
|
probably benign |
Het |
| Gm10985 |
TA |
TANA |
3: 53,752,677 (GRCm39) |
|
probably null |
Het |
| Gse1 |
T |
C |
8: 121,293,285 (GRCm39) |
|
probably benign |
Het |
| Hcn3 |
A |
G |
3: 89,067,132 (GRCm39) |
S79P |
probably damaging |
Het |
| Hspa4 |
T |
A |
11: 53,174,412 (GRCm39) |
M203L |
probably benign |
Het |
| Ints15 |
G |
A |
5: 143,293,817 (GRCm39) |
T220I |
probably damaging |
Het |
| Kctd7 |
G |
A |
5: 130,181,414 (GRCm39) |
R279H |
probably damaging |
Het |
| Kif11 |
C |
T |
19: 37,395,431 (GRCm39) |
|
probably benign |
Het |
| Klf13 |
T |
C |
7: 63,541,509 (GRCm39) |
N206S |
probably benign |
Het |
| Kpna7 |
A |
T |
5: 144,926,507 (GRCm39) |
Y482N |
probably damaging |
Het |
| Lamc1 |
T |
C |
1: 153,138,329 (GRCm39) |
Y175C |
probably damaging |
Het |
| Lrpprc |
G |
A |
17: 85,074,435 (GRCm39) |
R491* |
probably null |
Het |
| Madd |
T |
A |
2: 90,982,894 (GRCm39) |
I1350F |
probably damaging |
Het |
| Mbtd1 |
T |
C |
11: 93,815,375 (GRCm39) |
V321A |
possibly damaging |
Het |
| Mon2 |
G |
A |
10: 122,871,953 (GRCm39) |
S357L |
possibly damaging |
Het |
| Ndst3 |
A |
G |
3: 123,465,162 (GRCm39) |
V270A |
probably damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,325,447 (GRCm39) |
T742A |
probably damaging |
Het |
| Nopchap1 |
G |
A |
10: 83,200,393 (GRCm39) |
|
probably benign |
Het |
| Or6d14 |
T |
C |
6: 116,533,910 (GRCm39) |
S175P |
probably damaging |
Het |
| Papola |
A |
C |
12: 105,799,395 (GRCm39) |
S675R |
probably benign |
Het |
| Pcdh9 |
T |
A |
14: 94,126,081 (GRCm39) |
I30F |
probably null |
Het |
| Prl6a1 |
T |
A |
13: 27,502,011 (GRCm39) |
L126Q |
probably damaging |
Het |
| Prr29 |
A |
G |
11: 106,267,102 (GRCm39) |
E89G |
possibly damaging |
Het |
| Psmd1 |
T |
C |
1: 86,021,987 (GRCm39) |
|
probably benign |
Het |
| Rad9b |
A |
G |
5: 122,489,786 (GRCm39) |
|
probably benign |
Het |
| Rest |
T |
C |
5: 77,430,398 (GRCm39) |
V939A |
probably benign |
Het |
| Rnf135 |
T |
A |
11: 80,084,768 (GRCm39) |
S180R |
probably benign |
Het |
| Sarm1 |
C |
A |
11: 78,378,917 (GRCm39) |
R376L |
probably damaging |
Het |
| Scap |
C |
A |
9: 110,208,798 (GRCm39) |
P613Q |
probably benign |
Het |
| Scube3 |
C |
T |
17: 28,383,331 (GRCm39) |
R374* |
probably null |
Het |
| Setx |
T |
G |
2: 29,029,233 (GRCm39) |
V167G |
probably damaging |
Het |
| Snrnp40 |
T |
A |
4: 130,262,066 (GRCm39) |
H151Q |
probably damaging |
Het |
| Sox21 |
G |
T |
14: 118,473,029 (GRCm39) |
H7N |
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,533,982 (GRCm39) |
Q3413L |
probably benign |
Het |
| Sycp1 |
A |
G |
3: 102,803,226 (GRCm39) |
V528A |
probably benign |
Het |
| Tcl1b3 |
A |
T |
12: 105,157,498 (GRCm39) |
S47C |
probably damaging |
Het |
| Treml4 |
T |
C |
17: 48,571,962 (GRCm39) |
S122P |
possibly damaging |
Het |
| Trip11 |
C |
T |
12: 101,851,428 (GRCm39) |
A879T |
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,127,704 (GRCm39) |
N567K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,404,781 (GRCm39) |
|
probably benign |
Het |
| Zfp804a |
G |
A |
2: 82,087,544 (GRCm39) |
D458N |
probably damaging |
Het |
| Zic2 |
T |
C |
14: 122,713,755 (GRCm39) |
M223T |
possibly 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 |
|
IGL02480:Eml1
|
APN |
12 |
108,487,955 (GRCm39) |
missense |
probably benign |
0.32 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGACAGATCACCCTTGGCACTTG -3'
(R):5'- GAGGAGATTGTGAATCATGGCCCC -3'
Sequencing Primer
(F):5'- GCTGAGGGgtgtgtgtg -3'
(R):5'- tctgatgccctctttggtttc -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation