Incidental Mutation 'R7791:Eml4'
| ID |
599904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml4
|
| Ensembl Gene |
ENSMUSG00000032624 |
| Gene Name |
echinoderm microtubule associated protein like 4 |
| Synonyms |
4930443C24Rik |
| MMRRC Submission |
045847-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.861)
|
| Stock # |
R7791 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
83658360-83787790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83781135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 778
(D778Y)
|
| 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 damaging
Transcript: ENSMUST00000049503
AA Change: D666Y
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624
AA Change: D666Y
| 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: D778Y
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624
AA Change: D778Y
| 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: D709Y
PolyPhen 2
Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624
AA Change: D709Y
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (51/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
T |
13: 59,838,508 (GRCm39) |
M108K |
probably benign |
Het |
| AAdacl4fm3 |
A |
G |
4: 144,430,015 (GRCm39) |
S325P |
probably damaging |
Het |
| Adamts9 |
A |
T |
6: 92,849,366 (GRCm39) |
V1031D |
probably benign |
Het |
| Agap3 |
C |
T |
5: 24,681,411 (GRCm39) |
R122C |
probably damaging |
Het |
| Arhgap27 |
A |
G |
11: 103,230,020 (GRCm39) |
|
probably null |
Het |
| Atp1a2 |
T |
A |
1: 172,103,782 (GRCm39) |
I950F |
probably benign |
Het |
| Bahcc1 |
T |
G |
11: 120,159,203 (GRCm39) |
H143Q |
probably damaging |
Het |
| Bcl7b |
T |
A |
5: 135,199,968 (GRCm39) |
D40E |
probably damaging |
Het |
| C9 |
C |
T |
15: 6,519,359 (GRCm39) |
R399C |
possibly damaging |
Het |
| Capn13 |
T |
C |
17: 73,689,883 (GRCm39) |
I43V |
possibly damaging |
Het |
| Ctcf |
A |
G |
8: 106,391,571 (GRCm39) |
T289A |
possibly damaging |
Het |
| Cux2 |
T |
C |
5: 122,005,162 (GRCm39) |
N1008S |
probably benign |
Het |
| Dst |
T |
A |
1: 34,193,673 (GRCm39) |
M294K |
probably damaging |
Het |
| Exoc3l4 |
A |
C |
12: 111,389,974 (GRCm39) |
D183A |
probably damaging |
Het |
| Eya4 |
A |
T |
10: 22,989,825 (GRCm39) |
S511T |
probably damaging |
Het |
| Fbrsl1 |
T |
C |
5: 110,595,885 (GRCm39) |
H50R |
probably benign |
Het |
| Gemin5 |
G |
A |
11: 58,015,819 (GRCm39) |
P1396S |
probably benign |
Het |
| Gnb4 |
A |
G |
3: 32,644,192 (GRCm39) |
F151L |
possibly damaging |
Het |
| Gnptab |
A |
G |
10: 88,276,084 (GRCm39) |
|
probably null |
Het |
| Gpbp1l1 |
T |
A |
4: 116,431,617 (GRCm39) |
W92R |
probably damaging |
Het |
| Gucy1b1 |
A |
T |
3: 81,942,704 (GRCm39) |
Y479* |
probably null |
Het |
| Htr3a |
T |
A |
9: 48,812,875 (GRCm39) |
Q188L |
possibly damaging |
Het |
| Ighv5-9-1 |
A |
G |
12: 113,700,165 (GRCm39) |
F18S |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,471,425 (GRCm39) |
T1004A |
probably damaging |
Het |
| Mansc4 |
G |
A |
6: 146,983,042 (GRCm39) |
L132F |
unknown |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mtor |
G |
T |
4: 148,547,397 (GRCm39) |
R460L |
probably benign |
Het |
| Mtus1 |
A |
T |
8: 41,536,417 (GRCm39) |
F433Y |
possibly damaging |
Het |
| Myoc |
T |
C |
1: 162,476,690 (GRCm39) |
Y465H |
probably damaging |
Het |
| N4bp1 |
A |
G |
8: 87,579,831 (GRCm39) |
V657A |
probably damaging |
Het |
| Ndufv1 |
A |
T |
19: 4,061,533 (GRCm39) |
|
probably null |
Het |
| Nectin1 |
T |
C |
9: 43,703,336 (GRCm39) |
I198T |
probably benign |
Het |
| Or10h1 |
T |
A |
17: 33,418,326 (GRCm39) |
C101* |
probably null |
Het |
| Or8g20 |
T |
C |
9: 39,396,177 (GRCm39) |
D124G |
probably damaging |
Het |
| Padi2 |
C |
T |
4: 140,644,907 (GRCm39) |
T47I |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,784,056 (GRCm39) |
I116N |
probably damaging |
Het |
| Pkdrej |
T |
A |
15: 85,700,132 (GRCm39) |
I1935L |
possibly damaging |
Het |
| Pnpla7 |
C |
A |
2: 24,942,078 (GRCm39) |
A1173D |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,788,304 (GRCm39) |
L593Q |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,372,402 (GRCm39) |
S231P |
possibly damaging |
Het |
| Slc13a2 |
A |
G |
11: 78,312,890 (GRCm39) |
|
probably null |
Het |
| Spdl1 |
A |
G |
11: 34,704,304 (GRCm39) |
S510P |
possibly damaging |
Het |
| Tbxa2r |
G |
T |
10: 81,170,540 (GRCm39) |
*342L |
probably null |
Het |
| Tfrc |
A |
G |
16: 32,437,985 (GRCm39) |
K346R |
probably benign |
Het |
| Tmem52b |
A |
G |
6: 129,489,966 (GRCm39) |
|
probably benign |
Het |
| Tsc1 |
T |
C |
2: 28,571,960 (GRCm39) |
F844L |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,283,544 (GRCm39) |
N158S |
probably benign |
Het |
| Ulk4 |
C |
T |
9: 121,092,734 (GRCm39) |
E168K |
possibly damaging |
Het |
| Vgf |
T |
C |
5: 137,060,885 (GRCm39) |
L349P |
unknown |
Het |
| Vil1 |
T |
C |
1: 74,467,295 (GRCm39) |
Y681H |
probably damaging |
Het |
| Zfp654 |
A |
G |
16: 64,603,634 (GRCm39) |
*572R |
probably null |
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 |
|
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 |
|
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'- TTGTAATTCTGCAAGGTCCTGC -3'
(R):5'- AATCTCATATTGGTTCAGTCAGTACC -3'
Sequencing Primer
(F):5'- TGCAAGGTCCTGCTAAACATTC -3'
(R):5'- GAGTGACACGCTTTCTCCAATAAGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation