Incidental Mutation 'R6044:Eml4'
| ID |
483740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml4
|
| Ensembl Gene |
ENSMUSG00000032624 |
| Gene Name |
echinoderm microtubule associated protein like 4 |
| Synonyms |
4930443C24Rik |
| MMRRC Submission |
044212-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.887)
|
| Stock # |
R6044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
83658360-83787790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 83753379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 281
(L281R)
|
| 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 damaging
Transcript: ENSMUST00000049503
AA Change: L238R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624
AA Change: L238R
| 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 damaging
Transcript: ENSMUST00000096766
AA Change: L350R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624
AA Change: L350R
| 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 damaging
Transcript: ENSMUST00000112363
AA Change: L281R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624
AA Change: L281R
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.0%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
A |
14: 32,382,614 (GRCm39) |
S1117L |
possibly damaging |
Het |
| Adamts20 |
A |
T |
15: 94,180,364 (GRCm39) |
Y1764N |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,130,928 (GRCm39) |
D223V |
probably damaging |
Het |
| Agbl1 |
T |
C |
7: 75,967,868 (GRCm39) |
V31A |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,299,095 (GRCm39) |
H462R |
probably benign |
Het |
| Amt |
A |
T |
9: 108,174,450 (GRCm39) |
T72S |
probably damaging |
Het |
| Atp12a |
T |
A |
14: 56,613,612 (GRCm39) |
D461E |
probably damaging |
Het |
| Bcan |
C |
A |
3: 87,902,950 (GRCm39) |
C276F |
probably damaging |
Het |
| Crispld2 |
T |
C |
8: 120,737,410 (GRCm39) |
S54P |
possibly damaging |
Het |
| Cyp11a1 |
A |
T |
9: 57,933,987 (GRCm39) |
N478I |
probably damaging |
Het |
| Des |
A |
T |
1: 75,340,113 (GRCm39) |
|
probably null |
Het |
| Dnajc6 |
A |
T |
4: 101,473,774 (GRCm39) |
I427F |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,839,878 (GRCm39) |
Y2122C |
probably damaging |
Het |
| Fndc11 |
T |
A |
2: 180,863,459 (GRCm39) |
L88Q |
probably damaging |
Het |
| Foxo1 |
A |
G |
3: 52,253,258 (GRCm39) |
M474V |
probably benign |
Het |
| Gap43 |
A |
T |
16: 42,112,550 (GRCm39) |
D70E |
probably benign |
Het |
| Gemin4 |
T |
C |
11: 76,103,760 (GRCm39) |
M334V |
probably benign |
Het |
| Gm973 |
T |
C |
1: 59,667,393 (GRCm39) |
L718P |
probably benign |
Het |
| Gprin3 |
G |
T |
6: 59,330,657 (GRCm39) |
T550N |
possibly damaging |
Het |
| Hddc3 |
T |
A |
7: 79,993,332 (GRCm39) |
V53E |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,298,449 (GRCm39) |
D12E |
probably null |
Het |
| Klri2 |
T |
A |
6: 129,717,247 (GRCm39) |
E45D |
probably damaging |
Het |
| Lct |
A |
G |
1: 128,235,717 (GRCm39) |
V430A |
possibly damaging |
Het |
| Mcm8 |
T |
C |
2: 132,673,600 (GRCm39) |
|
probably null |
Het |
| Mmp12 |
A |
G |
9: 7,350,050 (GRCm39) |
T184A |
possibly damaging |
Het |
| Morc3 |
T |
C |
16: 93,663,330 (GRCm39) |
V511A |
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,925,695 (GRCm39) |
Y397H |
probably damaging |
Het |
| Naa50 |
G |
A |
16: 43,979,890 (GRCm39) |
E93K |
possibly damaging |
Het |
| Or14j2 |
G |
A |
17: 37,885,426 (GRCm39) |
T296M |
probably damaging |
Het |
| Or2t26 |
T |
C |
11: 49,039,522 (GRCm39) |
V146A |
probably benign |
Het |
| Or4a77 |
T |
A |
2: 89,487,516 (GRCm39) |
I90F |
probably damaging |
Het |
| Or4c126 |
T |
C |
2: 89,823,761 (GRCm39) |
I8T |
possibly damaging |
Het |
| Or4k40 |
T |
C |
2: 111,250,423 (GRCm39) |
N291S |
probably damaging |
Het |
| Padi4 |
A |
G |
4: 140,475,438 (GRCm39) |
S576P |
possibly damaging |
Het |
| Poglut2 |
A |
T |
1: 44,153,611 (GRCm39) |
L221* |
probably null |
Het |
| Prss47 |
A |
T |
13: 65,197,120 (GRCm39) |
Y111* |
probably null |
Het |
| Ptprm |
A |
G |
17: 67,000,857 (GRCm39) |
V1100A |
probably damaging |
Het |
| Rab11fip3 |
G |
A |
17: 26,286,843 (GRCm39) |
P437S |
possibly damaging |
Het |
| Rsph14 |
C |
T |
10: 74,867,102 (GRCm39) |
D15N |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slco1a1 |
A |
G |
6: 141,885,743 (GRCm39) |
V94A |
probably benign |
Het |
| Smpdl3a |
A |
G |
10: 57,687,358 (GRCm39) |
E362G |
possibly damaging |
Het |
| Sva |
A |
T |
6: 42,017,034 (GRCm39) |
Y47F |
probably benign |
Het |
| Tatdn3 |
A |
G |
1: 190,788,558 (GRCm39) |
|
probably null |
Het |
| Tlcd4 |
A |
T |
3: 121,001,018 (GRCm39) |
I205K |
probably damaging |
Het |
| Tlcd5 |
A |
G |
9: 43,024,903 (GRCm39) |
S18P |
probably benign |
Het |
| Tmem131 |
G |
A |
1: 36,920,422 (GRCm39) |
Q93* |
probably null |
Het |
| Trpm7 |
T |
C |
2: 126,656,665 (GRCm39) |
E1184G |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,693,202 (GRCm39) |
I1735V |
probably benign |
Het |
| Usp40 |
A |
T |
1: 87,917,872 (GRCm39) |
I325K |
probably benign |
Het |
| Vmn2r27 |
T |
G |
6: 124,208,731 (GRCm39) |
I5L |
probably benign |
Het |
| Wee1 |
C |
T |
7: 109,738,513 (GRCm39) |
T542I |
probably benign |
Het |
| Wrn |
G |
A |
8: 33,726,457 (GRCm39) |
P1129S |
probably damaging |
Het |
| Zfyve16 |
G |
A |
13: 92,659,174 (GRCm39) |
Q246* |
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 |
|
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'- GCATACACTTAATCATGTGTGAAAC -3'
(R):5'- GCTATGTTGGAAATAACTTGCATCTC -3'
Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- CTTGCATCTCATTTTTGGATGGATAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation