Incidental Mutation 'R5944:Eml4'
ID |
460506 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eml4
|
Ensembl Gene |
ENSMUSG00000032624 |
Gene Name |
echinoderm microtubule associated protein like 4 |
Synonyms |
4930443C24Rik |
MMRRC Submission |
044136-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.861)
|
Stock # |
R5944 (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 83753472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 269
(D269G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041880
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049503]
[ENSMUST00000096766]
[ENSMUST00000112363]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049503
AA Change: D269G
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000041880 Gene: ENSMUSG00000032624 AA Change: D269G
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: D381G
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000094528 Gene: ENSMUSG00000032624 AA Change: D381G
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: D312G
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000107982 Gene: ENSMUSG00000032624 AA Change: D312G
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 |
0.0761 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
86% (51/59) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
G |
T |
5: 114,384,041 (GRCm39) |
R2190L |
probably damaging |
Het |
Ankrd17 |
C |
T |
5: 90,433,702 (GRCm39) |
R689H |
probably damaging |
Het |
Apol7b |
A |
T |
15: 77,307,967 (GRCm39) |
V176E |
probably damaging |
Het |
Arsg |
T |
C |
11: 109,426,137 (GRCm39) |
F319S |
probably damaging |
Het |
Bcar3 |
T |
A |
3: 122,316,932 (GRCm39) |
D634E |
probably benign |
Het |
Bend7 |
T |
C |
2: 4,749,167 (GRCm39) |
W95R |
probably damaging |
Het |
Cenpj |
A |
G |
14: 56,791,115 (GRCm39) |
|
probably null |
Het |
Cfap91 |
G |
T |
16: 38,148,672 (GRCm39) |
T252N |
probably damaging |
Het |
Clasrp |
A |
T |
7: 19,328,431 (GRCm39) |
Y116N |
probably damaging |
Het |
Cldn17 |
T |
C |
16: 88,303,597 (GRCm39) |
E44G |
probably damaging |
Het |
Cyfip1 |
G |
A |
7: 55,521,878 (GRCm39) |
E61K |
probably damaging |
Het |
Dcaf13 |
A |
C |
15: 39,010,072 (GRCm39) |
M419L |
probably benign |
Het |
Fap |
T |
C |
2: 62,372,605 (GRCm39) |
Y258C |
probably damaging |
Het |
Fdxr |
T |
A |
11: 115,160,672 (GRCm39) |
T288S |
probably benign |
Het |
Frs3 |
T |
C |
17: 48,003,233 (GRCm39) |
|
probably benign |
Het |
Gm5581 |
T |
A |
6: 131,145,363 (GRCm39) |
|
noncoding transcript |
Het |
Gm7964 |
A |
G |
7: 83,405,743 (GRCm39) |
D187G |
probably benign |
Het |
Gpc5 |
T |
C |
14: 115,607,250 (GRCm39) |
V284A |
probably benign |
Het |
Hspa9 |
T |
C |
18: 35,082,076 (GRCm39) |
T177A |
possibly damaging |
Het |
Ifi202b |
T |
A |
1: 173,791,365 (GRCm39) |
M438L |
probably benign |
Het |
Ighv1-3 |
T |
C |
12: 114,445,239 (GRCm39) |
|
probably benign |
Het |
Krt36 |
G |
T |
11: 99,996,139 (GRCm39) |
A95E |
probably benign |
Het |
Krt9 |
C |
T |
11: 100,079,265 (GRCm39) |
S709N |
unknown |
Het |
Lmntd1 |
A |
T |
6: 145,373,042 (GRCm39) |
S164T |
probably damaging |
Het |
Or14c41 |
T |
A |
7: 86,234,486 (GRCm39) |
M1K |
probably null |
Het |
Or2ag1b |
A |
T |
7: 106,288,853 (GRCm39) |
C28* |
probably null |
Het |
Or52n4b |
G |
A |
7: 108,144,484 (GRCm39) |
A249T |
possibly damaging |
Het |
Or5b94 |
C |
T |
19: 12,652,283 (GRCm39) |
T238I |
probably damaging |
Het |
Or7a41 |
A |
T |
10: 78,871,223 (GRCm39) |
M198L |
probably benign |
Het |
Papola |
T |
A |
12: 105,778,644 (GRCm39) |
F341I |
possibly damaging |
Het |
Phf3 |
A |
G |
1: 30,859,785 (GRCm39) |
L914P |
probably damaging |
Het |
Sec24d |
T |
C |
3: 123,087,230 (GRCm39) |
V132A |
probably benign |
Het |
Serpini1 |
G |
A |
3: 75,547,606 (GRCm39) |
D373N |
probably damaging |
Het |
Sigirr |
T |
C |
7: 140,671,300 (GRCm39) |
Y394C |
probably damaging |
Het |
Slc29a4 |
G |
A |
5: 142,704,573 (GRCm39) |
E372K |
probably damaging |
Het |
Slc7a4 |
C |
T |
16: 17,392,220 (GRCm39) |
V405I |
possibly damaging |
Het |
Spatc1 |
T |
C |
15: 76,168,138 (GRCm39) |
L199P |
probably damaging |
Het |
Srgap3 |
T |
C |
6: 112,772,775 (GRCm39) |
M149V |
possibly damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Stat3 |
C |
T |
11: 100,785,931 (GRCm39) |
A449T |
probably damaging |
Het |
Stat4 |
A |
G |
1: 52,113,898 (GRCm39) |
N203D |
probably damaging |
Het |
Tanc1 |
T |
C |
2: 59,667,564 (GRCm39) |
|
probably null |
Het |
Trav3-1 |
T |
C |
14: 52,818,449 (GRCm39) |
I41T |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,313,089 (GRCm39) |
D525E |
probably damaging |
Het |
Vars1 |
T |
C |
17: 35,232,620 (GRCm39) |
V848A |
probably damaging |
Het |
Vmn2r101 |
A |
T |
17: 19,809,769 (GRCm39) |
D185V |
probably benign |
Het |
Wiz |
A |
G |
17: 32,576,671 (GRCm39) |
S628P |
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably 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 |
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'- GTACATACCTGCTGTGAGGTAG -3'
(R):5'- TCCACTGGTACCCTATCTCAGG -3'
Sequencing Primer
(F):5'- GGTAGTTTTTGTACCTATCTGCAC -3'
(R):5'- GCTTTGAAGTCTTAGAAGCCCATGC -3'
|
Posted On |
2017-02-28 |