Incidental Mutation 'R7037:Eml4'
| ID |
546798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml4
|
| Ensembl Gene |
ENSMUSG00000032624 |
| Gene Name |
echinoderm microtubule associated protein like 4 |
| Synonyms |
4930443C24Rik |
| MMRRC Submission |
045137-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.887)
|
| Stock # |
R7037 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
83658360-83787790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83732756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 136
(D136E)
|
| 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
|
| 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
AA Change: D136E
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624
AA Change: D136E
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (70/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
T |
7: 119,367,266 (GRCm39) |
N33I |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,740,712 (GRCm39) |
V314D |
probably damaging |
Het |
| Arl14epl |
T |
G |
18: 47,065,510 (GRCm39) |
C92G |
probably benign |
Het |
| Atp6v1h |
T |
A |
1: 5,220,215 (GRCm39) |
M423K |
possibly damaging |
Het |
| Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
| Baz2b |
C |
T |
2: 59,764,014 (GRCm39) |
|
probably null |
Het |
| Bicral |
T |
C |
17: 47,135,560 (GRCm39) |
H550R |
probably benign |
Het |
| C1rl |
A |
G |
6: 124,485,598 (GRCm39) |
Y323C |
probably damaging |
Het |
| Ccr9 |
T |
A |
9: 123,609,036 (GRCm39) |
H239Q |
possibly damaging |
Het |
| Cdh16 |
T |
A |
8: 105,344,267 (GRCm39) |
R91* |
probably null |
Het |
| Coro1c |
A |
G |
5: 113,983,457 (GRCm39) |
F357S |
possibly damaging |
Het |
| Cpsf4 |
G |
A |
5: 145,112,939 (GRCm39) |
R141Q |
possibly damaging |
Het |
| Cryzl2 |
G |
A |
1: 157,298,318 (GRCm39) |
V236I |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,435,117 (GRCm39) |
E247G |
probably damaging |
Het |
| Dbr1 |
T |
A |
9: 99,458,621 (GRCm39) |
|
probably null |
Het |
| Dclk1 |
T |
C |
3: 55,370,469 (GRCm39) |
S23P |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 118,692,938 (GRCm39) |
I361F |
probably benign |
Het |
| Elac2 |
A |
G |
11: 64,874,537 (GRCm39) |
E218G |
probably benign |
Het |
| Foxred1 |
A |
T |
9: 35,118,844 (GRCm39) |
S223T |
probably benign |
Het |
| Garin5b |
G |
T |
7: 4,761,584 (GRCm39) |
|
probably benign |
Het |
| Gask1a |
G |
T |
9: 121,794,592 (GRCm39) |
V249L |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,474 (GRCm39) |
C69R |
unknown |
Het |
| Gna14 |
A |
T |
19: 16,511,128 (GRCm39) |
H59L |
|
Het |
| H2-Ab1 |
T |
A |
17: 34,486,963 (GRCm39) |
I239N |
probably damaging |
Het |
| Ints7 |
T |
C |
1: 191,351,717 (GRCm39) |
S809P |
probably benign |
Het |
| Itgb4 |
T |
A |
11: 115,896,391 (GRCm39) |
Y1379* |
probably null |
Het |
| Kank1 |
A |
G |
19: 25,407,705 (GRCm39) |
D1233G |
probably damaging |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Lrrc66 |
A |
T |
5: 73,764,504 (GRCm39) |
D846E |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,791,251 (GRCm39) |
H38R |
probably damaging |
Het |
| Mc3r |
T |
C |
2: 172,091,554 (GRCm39) |
F259L |
probably damaging |
Het |
| Med25 |
A |
G |
7: 44,532,206 (GRCm39) |
Y384H |
probably damaging |
Het |
| Met |
A |
T |
6: 17,547,127 (GRCm39) |
|
probably benign |
Het |
| Mmp16 |
T |
C |
4: 18,116,148 (GRCm39) |
V584A |
possibly damaging |
Het |
| Mrgprb3 |
A |
G |
7: 48,292,942 (GRCm39) |
L203P |
probably damaging |
Het |
| Mus81 |
A |
G |
19: 5,536,108 (GRCm39) |
L185P |
probably damaging |
Het |
| Naaa |
A |
G |
5: 92,424,934 (GRCm39) |
V75A |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 58,934,755 (GRCm39) |
T5292S |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,943,430 (GRCm39) |
S4801G |
probably damaging |
Het |
| Or2ag19 |
T |
C |
7: 106,444,543 (GRCm39) |
S242P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,538,882 (GRCm39) |
D1112G |
probably benign |
Het |
| Pals1 |
T |
A |
12: 78,843,973 (GRCm39) |
I59N |
probably damaging |
Het |
| Pbx4 |
A |
G |
8: 70,317,525 (GRCm39) |
R170G |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Plce1 |
A |
T |
19: 38,690,461 (GRCm39) |
D715V |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,246,770 (GRCm39) |
T311A |
possibly damaging |
Het |
| Popdc2 |
A |
G |
16: 38,194,629 (GRCm39) |
D350G |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,429,100 (GRCm39) |
V661A |
probably benign |
Het |
| Ptbp2 |
A |
G |
3: 119,545,557 (GRCm39) |
Y130H |
probably damaging |
Het |
| Rev3l |
C |
T |
10: 39,727,971 (GRCm39) |
R2707W |
probably damaging |
Het |
| Rpl37 |
G |
A |
15: 5,147,185 (GRCm39) |
R75K |
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,779,475 (GRCm39) |
R259* |
probably null |
Het |
| Scai |
A |
T |
2: 39,080,633 (GRCm39) |
S8T |
probably benign |
Het |
| Scn4a |
C |
A |
11: 106,211,726 (GRCm39) |
L1430F |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,686,993 (GRCm39) |
K1035R |
probably damaging |
Het |
| Siah3 |
A |
G |
14: 75,763,025 (GRCm39) |
H92R |
probably benign |
Het |
| Smc4 |
G |
A |
3: 68,925,528 (GRCm39) |
V342I |
possibly damaging |
Het |
| Spata31d1a |
C |
T |
13: 59,848,138 (GRCm39) |
C1330Y |
possibly damaging |
Het |
| St18 |
C |
A |
1: 6,873,260 (GRCm39) |
H332N |
possibly damaging |
Het |
| Sycp1 |
T |
A |
3: 102,806,250 (GRCm39) |
E480D |
possibly damaging |
Het |
| Tex14 |
A |
T |
11: 87,388,741 (GRCm39) |
I323F |
probably damaging |
Het |
| Tm7sf2 |
A |
T |
19: 6,114,107 (GRCm39) |
|
probably null |
Het |
| Tmem241 |
G |
T |
18: 12,246,463 (GRCm39) |
H62Q |
probably benign |
Het |
| Tmem54 |
T |
A |
4: 129,004,594 (GRCm39) |
|
probably null |
Het |
| Tomm34 |
A |
G |
2: 163,912,398 (GRCm39) |
L39P |
probably damaging |
Het |
| Triml2 |
T |
A |
8: 43,646,573 (GRCm39) |
V354D |
probably damaging |
Het |
| Usp19 |
T |
C |
9: 108,374,157 (GRCm39) |
I738T |
possibly damaging |
Het |
| Utp25 |
A |
C |
1: 192,803,031 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
A |
10: 12,702,514 (GRCm39) |
|
probably null |
Het |
| Zfp1005 |
G |
T |
2: 150,108,376 (GRCm39) |
V46F |
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 |
|
|
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 |
|
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'- AAGTTCACTAGAGGTCACTTCTGTC -3'
(R):5'- TGCCAAATCACAGAATCTAGGTATC -3'
Sequencing Primer
(F):5'- GAGGTCACTTCTGTCCAAAAAG -3'
(R):5'- AGGTATCTTTACAACCATTCCCTAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation