Incidental Mutation 'IGL02005:Eml4'
| ID |
183174 |
| 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 # |
IGL02005
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
83658360-83787790 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 83785132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624
| 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
|
| SMART Domains |
Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,965,927 (GRCm39) |
D141G |
probably damaging |
Het |
| Ankhd1 |
T |
G |
18: 36,781,479 (GRCm39) |
L2177R |
probably damaging |
Het |
| Arhgap23 |
A |
T |
11: 97,382,045 (GRCm39) |
D1136V |
probably damaging |
Het |
| Atp6v1b1 |
A |
G |
6: 83,730,896 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
T |
C |
13: 45,721,701 (GRCm39) |
T65A |
probably benign |
Het |
| Bbs4 |
A |
G |
9: 59,243,638 (GRCm39) |
|
probably benign |
Het |
| Bms1 |
G |
A |
6: 118,381,546 (GRCm39) |
T664M |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,973,682 (GRCm39) |
D2544G |
probably benign |
Het |
| Cdhr2 |
C |
T |
13: 54,867,576 (GRCm39) |
H469Y |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,616,957 (GRCm39) |
D110G |
probably benign |
Het |
| Chd4 |
G |
A |
6: 125,105,779 (GRCm39) |
E1786K |
possibly damaging |
Het |
| Cltc |
T |
C |
11: 86,621,045 (GRCm39) |
K321E |
possibly damaging |
Het |
| Col6a2 |
T |
C |
10: 76,446,007 (GRCm39) |
D383G |
probably damaging |
Het |
| Crcp |
T |
G |
5: 130,071,074 (GRCm39) |
C58G |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,921,975 (GRCm39) |
Y807C |
probably damaging |
Het |
| Glce |
A |
T |
9: 61,967,859 (GRCm39) |
L431I |
probably damaging |
Het |
| Glp1r |
C |
A |
17: 31,143,585 (GRCm39) |
T207K |
probably benign |
Het |
| Gm28042 |
G |
A |
2: 119,865,115 (GRCm39) |
V247I |
possibly damaging |
Het |
| Gvin-ps5 |
G |
T |
7: 105,928,627 (GRCm39) |
F423L |
unknown |
Het |
| Hcrtr1 |
T |
A |
4: 130,031,056 (GRCm39) |
H76L |
probably benign |
Het |
| Hoxb13 |
G |
A |
11: 96,085,435 (GRCm39) |
G56D |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,827,842 (GRCm39) |
E27G |
possibly damaging |
Het |
| Kars1 |
A |
T |
8: 112,726,736 (GRCm39) |
L321* |
probably null |
Het |
| Klhl12 |
A |
T |
1: 134,391,652 (GRCm39) |
T95S |
possibly damaging |
Het |
| Klhl14 |
A |
T |
18: 21,757,668 (GRCm39) |
Y347* |
probably null |
Het |
| Kmt5b |
A |
G |
19: 3,836,538 (GRCm39) |
H25R |
possibly damaging |
Het |
| Krtap12-1 |
T |
A |
10: 77,556,823 (GRCm39) |
V122D |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,766,077 (GRCm39) |
D322G |
possibly damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,628,920 (GRCm39) |
V422D |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,152,368 (GRCm39) |
M1051R |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,937,728 (GRCm39) |
Y242C |
probably damaging |
Het |
| Ncf2 |
A |
T |
1: 152,692,803 (GRCm39) |
I107L |
possibly damaging |
Het |
| Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
| Pdlim4 |
T |
C |
11: 53,950,810 (GRCm39) |
D93G |
probably benign |
Het |
| Pgap1 |
C |
A |
1: 54,590,214 (GRCm39) |
A75S |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,804,978 (GRCm39) |
D3209G |
possibly damaging |
Het |
| Prcp |
T |
C |
7: 92,577,032 (GRCm39) |
S319P |
probably benign |
Het |
| Rasal2 |
G |
A |
1: 156,984,568 (GRCm39) |
Q1035* |
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,493,608 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,236,145 (GRCm39) |
I544T |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,069,056 (GRCm39) |
V2910E |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,299,787 (GRCm39) |
R155Q |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,655,104 (GRCm39) |
L1278H |
probably damaging |
Het |
| Tti2 |
G |
T |
8: 31,645,858 (GRCm39) |
G391C |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,778,363 (GRCm39) |
M1295I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,554,313 (GRCm39) |
|
probably benign |
Het |
| Vmn1r170 |
G |
A |
7: 23,306,338 (GRCm39) |
V247M |
probably damaging |
Het |
| Wdr48 |
T |
C |
9: 119,734,455 (GRCm39) |
Y125H |
probably damaging |
Het |
| Wdtc1 |
C |
T |
4: 133,036,225 (GRCm39) |
R105H |
probably benign |
Het |
| Zc3h11a |
A |
G |
1: 133,549,880 (GRCm39) |
S699P |
probably benign |
Het |
| Zkscan14 |
C |
T |
5: 145,132,419 (GRCm39) |
V371I |
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,779,125 (GRCm39) |
Y1862F |
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 |
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation