Incidental Mutation 'IGL02814:Eml4'
| ID |
360728 |
| 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: 0.887)
|
| Stock # |
IGL02814
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
83658360-83787790 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 83748791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 228
(Y228*)
|
| 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 null
Transcript: ENSMUST00000049503
AA Change: Y185*
|
| SMART Domains |
Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624
AA Change: Y185*
| 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 null
Transcript: ENSMUST00000096766
AA Change: Y297*
|
| SMART Domains |
Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624
AA Change: Y297*
| 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 null
Transcript: ENSMUST00000112363
AA Change: Y228*
|
| SMART Domains |
Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624
AA Change: Y228*
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,045,293 (GRCm39) |
F347I |
possibly damaging |
Het |
| Adcy5 |
A |
G |
16: 35,124,019 (GRCm39) |
T1233A |
probably benign |
Het |
| Blnk |
C |
T |
19: 40,950,873 (GRCm39) |
D93N |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,321,706 (GRCm39) |
E1083G |
probably damaging |
Het |
| Capn8 |
C |
A |
1: 182,426,336 (GRCm39) |
L224M |
probably damaging |
Het |
| Cdh4 |
A |
T |
2: 179,422,267 (GRCm39) |
E130D |
probably benign |
Het |
| Cgn |
G |
A |
3: 94,681,550 (GRCm39) |
T515M |
probably benign |
Het |
| Chrna10 |
C |
T |
7: 101,761,469 (GRCm39) |
G374D |
probably benign |
Het |
| Chrnb1 |
T |
A |
11: 69,686,506 (GRCm39) |
Y38F |
probably damaging |
Het |
| Cyld |
A |
G |
8: 89,471,525 (GRCm39) |
D621G |
probably benign |
Het |
| Cyp4f37 |
T |
C |
17: 32,853,645 (GRCm39) |
F443S |
probably benign |
Het |
| Dctn1 |
C |
A |
6: 83,166,896 (GRCm39) |
A152E |
probably damaging |
Het |
| Fbln2 |
T |
A |
6: 91,242,839 (GRCm39) |
C846* |
probably null |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gart |
T |
C |
16: 91,420,345 (GRCm39) |
S833G |
possibly damaging |
Het |
| Gda |
T |
C |
19: 21,405,839 (GRCm39) |
|
probably null |
Het |
| Gjb5 |
C |
T |
4: 127,249,355 (GRCm39) |
R263Q |
probably benign |
Het |
| Gtf2i |
T |
C |
5: 134,315,558 (GRCm39) |
K193E |
probably damaging |
Het |
| H4c14 |
C |
A |
3: 96,170,603 (GRCm39) |
K6N |
probably benign |
Het |
| Ints1 |
C |
T |
5: 139,758,146 (GRCm39) |
E244K |
possibly damaging |
Het |
| Kat14 |
G |
A |
2: 144,244,383 (GRCm39) |
S412N |
probably benign |
Het |
| Kcnn3 |
A |
T |
3: 89,428,482 (GRCm39) |
H236L |
possibly damaging |
Het |
| Kif15 |
T |
A |
9: 122,832,705 (GRCm39) |
I1005K |
possibly damaging |
Het |
| Klrc1 |
T |
C |
6: 129,655,855 (GRCm39) |
T7A |
possibly damaging |
Het |
| Lcp2 |
T |
C |
11: 34,021,033 (GRCm39) |
S130P |
probably damaging |
Het |
| Ldha |
T |
A |
7: 46,500,315 (GRCm39) |
Y133* |
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,337,080 (GRCm39) |
C1231R |
probably damaging |
Het |
| Lrrn1 |
T |
A |
6: 107,544,313 (GRCm39) |
V37D |
probably damaging |
Het |
| Mep1a |
T |
A |
17: 43,788,112 (GRCm39) |
H648L |
probably benign |
Het |
| Mmp25 |
C |
T |
17: 23,858,736 (GRCm39) |
G272R |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,965,801 (GRCm39) |
|
probably benign |
Het |
| Myl3 |
G |
T |
9: 110,597,059 (GRCm39) |
E140* |
probably null |
Het |
| Nlrp4f |
A |
G |
13: 65,332,856 (GRCm39) |
S809P |
probably damaging |
Het |
| Nrde2 |
T |
C |
12: 100,110,394 (GRCm39) |
I207M |
probably null |
Het |
| Or13a26 |
T |
C |
7: 140,285,046 (GRCm39) |
L294P |
probably damaging |
Het |
| Or2y8 |
C |
T |
11: 52,035,637 (GRCm39) |
C240Y |
probably damaging |
Het |
| Or5p54 |
T |
C |
7: 107,553,977 (GRCm39) |
I43T |
probably benign |
Het |
| Paics |
T |
G |
5: 77,110,320 (GRCm39) |
V245G |
probably damaging |
Het |
| Pank1 |
A |
G |
19: 34,818,255 (GRCm39) |
F95L |
probably damaging |
Het |
| Pde4dip |
A |
C |
3: 97,674,416 (GRCm39) |
C167G |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,840,957 (GRCm39) |
T542K |
possibly damaging |
Het |
| Piezo1 |
A |
G |
8: 123,224,954 (GRCm39) |
Y651H |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,289,353 (GRCm39) |
C1208* |
probably null |
Het |
| Pkd1l1 |
T |
A |
11: 8,852,582 (GRCm39) |
T634S |
probably benign |
Het |
| Rab32 |
T |
C |
10: 10,422,171 (GRCm39) |
T183A |
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,621,583 (GRCm39) |
I206V |
possibly damaging |
Het |
| Rbm15b |
T |
C |
9: 106,762,975 (GRCm39) |
I398V |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,159,725 (GRCm39) |
E101G |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,310,434 (GRCm39) |
L388P |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,339,588 (GRCm39) |
Y129C |
probably damaging |
Het |
| Slc7a13 |
G |
A |
4: 19,839,387 (GRCm39) |
C330Y |
probably benign |
Het |
| Spock1 |
A |
T |
13: 57,735,486 (GRCm39) |
V101E |
probably damaging |
Het |
| Sympk |
T |
A |
7: 18,787,198 (GRCm39) |
W1029R |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,992,150 (GRCm39) |
H2008Q |
possibly damaging |
Het |
| Tgs1 |
T |
A |
4: 3,585,719 (GRCm39) |
Y199N |
probably damaging |
Het |
| Trim10 |
T |
A |
17: 37,188,228 (GRCm39) |
C481* |
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,898,170 (GRCm39) |
E395G |
probably damaging |
Het |
| Wfs1 |
A |
C |
5: 37,125,013 (GRCm39) |
V626G |
possibly damaging |
Het |
| Zfp689 |
A |
G |
7: 127,044,193 (GRCm39) |
S146P |
possibly damaging |
Het |
| Zfp786 |
T |
C |
6: 47,796,775 (GRCm39) |
H721R |
probably damaging |
Het |
| Zfta |
C |
A |
19: 7,397,787 (GRCm39) |
N111K |
possibly damaging |
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 |
|
|
IGL02318:Eml4
|
APN |
17 |
83,748,795 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation