Incidental Mutation 'R0541:Eml4'
| ID |
49943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml4
|
| Ensembl Gene |
ENSMUSG00000032624 |
| Gene Name |
echinoderm microtubule associated protein like 4 |
| Synonyms |
4930443C24Rik |
| MMRRC Submission |
038733-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.861)
|
| Stock # |
R0541 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
83658360-83787790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83747471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 238
(I238V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094528
(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: I126V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624
AA Change: I126V
| 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: I238V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624
AA Change: I238V
| 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: I169V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624
AA Change: I169V
| 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 |
|
| Meta Mutation Damage Score |
0.0730 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
96% (64/67) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,740,872 (GRCm39) |
M115V |
probably benign |
Het |
| 4933415A04Rik |
TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
11: 43,478,227 (GRCm39) |
|
probably null |
Het |
| Abca7 |
C |
T |
10: 79,843,185 (GRCm39) |
A1220V |
probably benign |
Het |
| Adamts19 |
G |
A |
18: 59,060,372 (GRCm39) |
|
probably null |
Het |
| Agbl1 |
G |
A |
7: 76,058,993 (GRCm39) |
V194M |
probably benign |
Het |
| Arhgap20 |
G |
T |
9: 51,760,963 (GRCm39) |
S902I |
probably damaging |
Het |
| Atp11b |
T |
G |
3: 35,861,093 (GRCm39) |
D193E |
probably damaging |
Het |
| B3gntl1 |
A |
T |
11: 121,535,430 (GRCm39) |
|
probably benign |
Het |
| C2cd2 |
T |
C |
16: 97,723,496 (GRCm39) |
E7G |
possibly damaging |
Het |
| Camta2 |
A |
G |
11: 70,572,447 (GRCm39) |
L259P |
probably benign |
Het |
| Ccni |
T |
C |
5: 93,335,563 (GRCm39) |
N192D |
probably benign |
Het |
| Cgnl1 |
A |
G |
9: 71,558,535 (GRCm39) |
I946T |
possibly damaging |
Het |
| Chil3 |
T |
C |
3: 106,068,548 (GRCm39) |
|
probably null |
Het |
| Cntn5 |
A |
G |
9: 9,673,407 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
C |
T |
16: 30,078,169 (GRCm39) |
G511S |
possibly damaging |
Het |
| Dagla |
C |
A |
19: 10,232,170 (GRCm39) |
|
probably null |
Het |
| Dcc |
T |
C |
18: 71,392,086 (GRCm39) |
N1440S |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,907,474 (GRCm39) |
N1069K |
probably benign |
Het |
| Edc4 |
A |
G |
8: 106,616,060 (GRCm39) |
T812A |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,852,882 (GRCm39) |
T1288A |
unknown |
Het |
| Fastkd1 |
A |
C |
2: 69,532,750 (GRCm39) |
L539R |
probably damaging |
Het |
| Fbln7 |
G |
A |
2: 128,719,454 (GRCm39) |
|
probably benign |
Het |
| Fbxo39 |
A |
G |
11: 72,209,297 (GRCm39) |
I386V |
probably benign |
Het |
| Gm17430 |
T |
C |
18: 9,726,267 (GRCm39) |
K135R |
probably damaging |
Het |
| Gm3646 |
T |
A |
1: 39,843,483 (GRCm39) |
T8S |
unknown |
Het |
| Gtsf1 |
A |
T |
15: 103,329,619 (GRCm39) |
V100E |
possibly damaging |
Het |
| Helz2 |
A |
G |
2: 180,876,618 (GRCm39) |
F1292S |
possibly damaging |
Het |
| Igf2bp3 |
G |
A |
6: 49,084,401 (GRCm39) |
|
probably benign |
Het |
| Ip6k2 |
T |
G |
9: 108,681,826 (GRCm39) |
D252E |
probably damaging |
Het |
| Iqck |
T |
A |
7: 118,514,817 (GRCm39) |
L232Q |
probably damaging |
Het |
| Kif18b |
A |
G |
11: 102,806,001 (GRCm39) |
V186A |
probably damaging |
Het |
| Klhl6 |
T |
A |
16: 19,768,197 (GRCm39) |
|
probably null |
Het |
| Lao1 |
C |
T |
4: 118,820,999 (GRCm39) |
T75I |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,855,878 (GRCm39) |
F2400L |
probably benign |
Het |
| Map3k9 |
A |
T |
12: 81,780,997 (GRCm39) |
S388T |
possibly damaging |
Het |
| Mmp11 |
G |
T |
10: 75,762,767 (GRCm39) |
H229N |
probably damaging |
Het |
| Myh7 |
T |
G |
14: 55,212,158 (GRCm39) |
I1529L |
probably benign |
Het |
| Nckap5 |
G |
T |
1: 126,623,459 (GRCm39) |
D11E |
possibly damaging |
Het |
| Ncoa1 |
A |
T |
12: 4,373,033 (GRCm39) |
F123I |
probably damaging |
Het |
| Nelfb |
A |
T |
2: 25,093,992 (GRCm39) |
D385E |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,972,810 (GRCm39) |
V2288M |
probably damaging |
Het |
| Or2f1b |
A |
G |
6: 42,739,154 (GRCm39) |
H56R |
probably damaging |
Het |
| Or4d6 |
C |
T |
19: 12,086,884 (GRCm39) |
V9M |
possibly damaging |
Het |
| Or52x1 |
A |
T |
7: 104,853,367 (GRCm39) |
M61K |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,458 (GRCm39) |
Y71C |
probably damaging |
Het |
| Otog |
T |
A |
7: 45,918,673 (GRCm39) |
|
probably benign |
Het |
| Oxa1l |
A |
G |
14: 54,605,646 (GRCm39) |
E375G |
possibly damaging |
Het |
| Pan2 |
T |
A |
10: 128,144,091 (GRCm39) |
I129K |
possibly damaging |
Het |
| Parp1 |
A |
G |
1: 180,426,616 (GRCm39) |
I919M |
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,885,305 (GRCm39) |
Y174H |
probably damaging |
Het |
| Polr3b |
T |
C |
10: 84,473,928 (GRCm39) |
F169S |
probably damaging |
Het |
| Rab10 |
T |
C |
12: 3,314,743 (GRCm39) |
D45G |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,185,107 (GRCm39) |
S1537P |
possibly damaging |
Het |
| Sema6d |
T |
A |
2: 124,507,197 (GRCm39) |
S1045T |
probably benign |
Het |
| Setd2 |
T |
C |
9: 110,402,741 (GRCm39) |
V1794A |
probably damaging |
Het |
| Spidr |
T |
A |
16: 15,733,229 (GRCm39) |
I589F |
probably damaging |
Het |
| Stmn4 |
A |
C |
14: 66,595,388 (GRCm39) |
I165L |
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,727,301 (GRCm39) |
M177T |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,491,486 (GRCm39) |
|
probably null |
Het |
| Tmem192 |
T |
C |
8: 65,416,912 (GRCm39) |
Y168H |
probably damaging |
Het |
| Ttc21a |
C |
T |
9: 119,785,892 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,446,663 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
G |
11: 87,972,403 (GRCm39) |
M255V |
possibly damaging |
Het |
| Vmn2r25 |
A |
G |
6: 123,816,786 (GRCm39) |
F265S |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,681,941 (GRCm39) |
S1021P |
probably benign |
Het |
| Wfdc16 |
T |
C |
2: 164,477,773 (GRCm39) |
E92G |
possibly damaging |
Het |
| Zkscan2 |
T |
C |
7: 123,079,423 (GRCm39) |
T845A |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCAACTAAGTGAACGGCTTCAG -3'
(R):5'- CAGTGTTTTACCTTCTTGCAGCAGC -3'
Sequencing Primer
(F):5'- CTAAGTGAACGGCTTCAGATTGC -3'
(R):5'- CAGCTCTGAGGCAGGTATTAACC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation