Incidental Mutation 'IGL02318:Eml4'
| ID |
288139 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eml4
|
| Ensembl Gene |
ENSMUSG00000032624 |
| Gene Name |
echinoderm microtubule associated protein like 4 |
| Synonyms |
4930443C24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.861)
|
| Stock # |
IGL02318
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
83658360-83787790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83748795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 230
(I230V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049503]
[ENSMUST00000096766]
[ENSMUST00000112363]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049503
AA Change: I187V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624
AA Change: I187V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
15 |
53 |
N/A |
INTRINSIC |
|
WD40
|
197 |
246 |
1.79e-1 |
SMART |
|
Blast:WD40
|
252 |
294 |
3e-19 |
BLAST |
|
WD40
|
297 |
336 |
5.97e-1 |
SMART |
|
WD40
|
345 |
382 |
2.96e1 |
SMART |
|
low complexity region
|
388 |
396 |
N/A |
INTRINSIC |
|
WD40
|
397 |
436 |
1.48e-2 |
SMART |
|
WD40
|
480 |
519 |
4.95e-4 |
SMART |
|
WD40
|
522 |
560 |
7.92e1 |
SMART |
|
WD40
|
563 |
602 |
5.75e-1 |
SMART |
|
WD40
|
609 |
648 |
2.69e-5 |
SMART |
|
WD40
|
722 |
762 |
8.04e-4 |
SMART |
|
low complexity region
|
793 |
805 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096766
AA Change: I299V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624
AA Change: I299V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
15 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
155 |
N/A |
INTRINSIC |
|
Pfam:HELP
|
236 |
308 |
1.1e-33 |
PFAM |
|
WD40
|
309 |
358 |
1.79e-1 |
SMART |
|
Blast:WD40
|
364 |
406 |
4e-20 |
BLAST |
|
WD40
|
409 |
448 |
5.97e-1 |
SMART |
|
WD40
|
457 |
494 |
2.96e1 |
SMART |
|
low complexity region
|
500 |
508 |
N/A |
INTRINSIC |
|
WD40
|
509 |
548 |
1.48e-2 |
SMART |
|
WD40
|
592 |
631 |
4.95e-4 |
SMART |
|
WD40
|
634 |
672 |
7.92e1 |
SMART |
|
WD40
|
675 |
714 |
5.75e-1 |
SMART |
|
WD40
|
721 |
760 |
2.69e-5 |
SMART |
|
WD40
|
834 |
874 |
8.04e-4 |
SMART |
|
low complexity region
|
905 |
917 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112363
AA Change: I230V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624
AA Change: I230V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
15 |
53 |
N/A |
INTRINSIC |
|
WD40
|
240 |
289 |
1.79e-1 |
SMART |
|
Blast:WD40
|
295 |
337 |
3e-19 |
BLAST |
|
WD40
|
340 |
379 |
5.97e-1 |
SMART |
|
WD40
|
388 |
425 |
2.96e1 |
SMART |
|
low complexity region
|
431 |
439 |
N/A |
INTRINSIC |
|
WD40
|
440 |
479 |
1.48e-2 |
SMART |
|
WD40
|
523 |
562 |
4.95e-4 |
SMART |
|
WD40
|
565 |
603 |
7.92e1 |
SMART |
|
WD40
|
606 |
645 |
5.75e-1 |
SMART |
|
WD40
|
652 |
691 |
2.69e-5 |
SMART |
|
WD40
|
765 |
805 |
8.04e-4 |
SMART |
|
low complexity region
|
836 |
848 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
A |
G |
5: 138,561,838 (GRCm39) |
F116S |
probably damaging |
Het |
| Abhd18 |
G |
A |
3: 40,884,662 (GRCm39) |
|
probably null |
Het |
| Akr1c6 |
G |
T |
13: 4,488,496 (GRCm39) |
C34F |
probably benign |
Het |
| Ankef1 |
T |
A |
2: 136,386,695 (GRCm39) |
I180N |
possibly damaging |
Het |
| Ap1b1 |
G |
A |
11: 4,969,294 (GRCm39) |
V217I |
probably benign |
Het |
| Arhgap27 |
T |
C |
11: 103,223,989 (GRCm39) |
Q608R |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,170,627 (GRCm39) |
T1136A |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,604,250 (GRCm39) |
Y1323* |
probably null |
Het |
| Bsx |
A |
C |
9: 40,785,517 (GRCm39) |
Q15P |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 104,881,764 (GRCm39) |
I410V |
probably null |
Het |
| Cfhr4 |
T |
A |
1: 139,708,835 (GRCm39) |
E24D |
probably benign |
Het |
| Col20a1 |
A |
G |
2: 180,648,952 (GRCm39) |
D945G |
probably damaging |
Het |
| Cox20 |
A |
G |
1: 178,150,043 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
A |
G |
15: 8,204,509 (GRCm39) |
K96E |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,270,699 (GRCm39) |
D305G |
possibly damaging |
Het |
| Cyp2d12 |
A |
G |
15: 82,439,444 (GRCm39) |
T33A |
probably benign |
Het |
| Dvl3 |
A |
G |
16: 20,342,493 (GRCm39) |
R149G |
possibly damaging |
Het |
| Dysf |
A |
G |
6: 84,163,446 (GRCm39) |
I1624V |
possibly damaging |
Het |
| Echs1 |
A |
T |
7: 139,691,623 (GRCm39) |
L167Q |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,192,868 (GRCm39) |
N358K |
probably benign |
Het |
| Fut10 |
A |
G |
8: 31,726,286 (GRCm39) |
Y347C |
probably damaging |
Het |
| Gfm2 |
C |
A |
13: 97,299,483 (GRCm39) |
N401K |
probably damaging |
Het |
| Gm4795 |
C |
T |
10: 44,882,735 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
C |
A |
7: 40,936,212 (GRCm39) |
T238N |
probably benign |
Het |
| Gm9892 |
T |
C |
8: 52,649,260 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
G |
T |
18: 10,469,388 (GRCm39) |
M134I |
possibly damaging |
Het |
| Grk3 |
A |
G |
5: 113,085,669 (GRCm39) |
Y314H |
probably damaging |
Het |
| Hrh2 |
T |
C |
13: 54,368,669 (GRCm39) |
I215T |
probably damaging |
Het |
| Ilkap |
A |
G |
1: 91,312,960 (GRCm39) |
|
probably null |
Het |
| Inpp4a |
T |
C |
1: 37,407,384 (GRCm39) |
Y233H |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Lmo7 |
C |
T |
14: 102,137,502 (GRCm39) |
|
probably benign |
Het |
| Luc7l3 |
C |
T |
11: 94,183,819 (GRCm39) |
R440Q |
probably benign |
Het |
| Mis18bp1 |
A |
C |
12: 65,205,515 (GRCm39) |
I219S |
probably benign |
Het |
| Myo9b |
G |
A |
8: 71,806,768 (GRCm39) |
E1581K |
probably damaging |
Het |
| Nfs1 |
T |
A |
2: 155,966,191 (GRCm39) |
Q458L |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,878,692 (GRCm39) |
|
probably null |
Het |
| Nxf1 |
G |
A |
19: 8,741,514 (GRCm39) |
|
probably null |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or52z1 |
A |
G |
7: 103,437,475 (GRCm39) |
V3A |
probably benign |
Het |
| Pacc1 |
A |
G |
1: 191,080,605 (GRCm39) |
E275G |
possibly damaging |
Het |
| Pde2a |
A |
T |
7: 101,152,550 (GRCm39) |
Y371F |
possibly damaging |
Het |
| Phlpp2 |
G |
T |
8: 110,666,505 (GRCm39) |
L1011F |
probably benign |
Het |
| Potefam3e |
T |
C |
8: 19,797,815 (GRCm39) |
|
probably null |
Het |
| Prss27 |
G |
T |
17: 24,264,571 (GRCm39) |
V245L |
probably benign |
Het |
| Rbm7 |
T |
C |
9: 48,405,411 (GRCm39) |
N56S |
probably damaging |
Het |
| Rftn1 |
T |
C |
17: 50,343,998 (GRCm39) |
I97V |
possibly damaging |
Het |
| Ric3 |
T |
C |
7: 108,647,287 (GRCm39) |
T178A |
probably damaging |
Het |
| Rock1 |
A |
G |
18: 10,104,323 (GRCm39) |
|
probably benign |
Het |
| Sall2 |
T |
C |
14: 52,553,022 (GRCm39) |
T56A |
probably damaging |
Het |
| Sgk1 |
T |
C |
10: 21,871,440 (GRCm39) |
S60P |
probably damaging |
Het |
| Smarcad1 |
G |
A |
6: 65,050,223 (GRCm39) |
A281T |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,002,029 (GRCm39) |
H53R |
possibly damaging |
Het |
| Thbs4 |
T |
C |
13: 92,900,092 (GRCm39) |
D468G |
probably damaging |
Het |
| Tmem108 |
A |
T |
9: 103,376,981 (GRCm39) |
V156E |
probably benign |
Het |
| Tnfaip3 |
T |
G |
10: 18,880,215 (GRCm39) |
R617S |
probably benign |
Het |
| Traf3 |
A |
G |
12: 111,204,031 (GRCm39) |
M7V |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,809,741 (GRCm39) |
I1237N |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,795 (GRCm39) |
V716A |
probably benign |
Het |
|
| Other mutations in Eml4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00718:Eml4
|
APN |
17 |
83,755,613 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00815:Eml4
|
APN |
17 |
83,758,219 (GRCm39) |
splice site |
probably benign |
|
|
IGL01969:Eml4
|
APN |
17 |
83,753,409 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02005:Eml4
|
APN |
17 |
83,785,132 (GRCm39) |
splice site |
probably benign |
|
|
IGL02273:Eml4
|
APN |
17 |
83,763,808 (GRCm39) |
splice site |
probably null |
|
|
IGL02421:Eml4
|
APN |
17 |
83,785,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02728:Eml4
|
APN |
17 |
83,780,568 (GRCm39) |
splice site |
probably null |
|
|
IGL02814:Eml4
|
APN |
17 |
83,748,791 (GRCm39) |
nonsense |
probably null |
|
|
IGL02900:Eml4
|
APN |
17 |
83,785,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03205:Eml4
|
APN |
17 |
83,761,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
erring
|
UTSW |
17 |
83,755,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0147:Eml4
|
UTSW |
17 |
83,729,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Eml4
|
UTSW |
17 |
83,729,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Eml4
|
UTSW |
17 |
83,753,487 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0541:Eml4
|
UTSW |
17 |
83,747,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0645:Eml4
|
UTSW |
17 |
83,770,922 (GRCm39) |
splice site |
probably benign |
|
|
R0733:Eml4
|
UTSW |
17 |
83,761,893 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0944:Eml4
|
UTSW |
17 |
83,785,489 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1071:Eml4
|
UTSW |
17 |
83,785,468 (GRCm39) |
nonsense |
probably null |
|
|
R1975:Eml4
|
UTSW |
17 |
83,717,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2042:Eml4
|
UTSW |
17 |
83,755,607 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2229:Eml4
|
UTSW |
17 |
83,758,485 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2257:Eml4
|
UTSW |
17 |
83,785,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2878:Eml4
|
UTSW |
17 |
83,717,603 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3820:Eml4
|
UTSW |
17 |
83,780,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4466:Eml4
|
UTSW |
17 |
83,729,103 (GRCm39) |
nonsense |
probably null |
|
|
R4620:Eml4
|
UTSW |
17 |
83,768,962 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4657:Eml4
|
UTSW |
17 |
83,758,377 (GRCm39) |
nonsense |
probably null |
|
|
R4717:Eml4
|
UTSW |
17 |
83,755,654 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4740:Eml4
|
UTSW |
17 |
83,717,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Eml4
|
UTSW |
17 |
83,771,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Eml4
|
UTSW |
17 |
83,717,514 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5834:Eml4
|
UTSW |
17 |
83,785,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5944:Eml4
|
UTSW |
17 |
83,753,472 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6044:Eml4
|
UTSW |
17 |
83,753,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6378:Eml4
|
UTSW |
17 |
83,755,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Eml4
|
UTSW |
17 |
83,758,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7025:Eml4
|
UTSW |
17 |
83,732,740 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7037:Eml4
|
UTSW |
17 |
83,732,756 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7042:Eml4
|
UTSW |
17 |
83,768,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7192:Eml4
|
UTSW |
17 |
83,761,890 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7525:Eml4
|
UTSW |
17 |
83,753,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7548:Eml4
|
UTSW |
17 |
83,732,766 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7595:Eml4
|
UTSW |
17 |
83,763,513 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7791:Eml4
|
UTSW |
17 |
83,781,135 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7866:Eml4
|
UTSW |
17 |
83,758,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7936:Eml4
|
UTSW |
17 |
83,781,115 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8435:Eml4
|
UTSW |
17 |
83,729,070 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8447:Eml4
|
UTSW |
17 |
83,755,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8698:Eml4
|
UTSW |
17 |
83,785,345 (GRCm39) |
missense |
probably benign |
|
|
R9026:Eml4
|
UTSW |
17 |
83,764,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9054:Eml4
|
UTSW |
17 |
83,734,640 (GRCm39) |
splice site |
probably benign |
|
|
R9630:Eml4
|
UTSW |
17 |
83,717,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9765:Eml4
|
UTSW |
17 |
83,747,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Eml4
|
UTSW |
17 |
83,753,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation