Incidental Mutation 'R7192:Eml4'
ID |
559689 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eml4
|
Ensembl Gene |
ENSMUSG00000032624 |
Gene Name |
echinoderm microtubule associated protein like 4 |
Synonyms |
4930443C24Rik |
MMRRC Submission |
045333-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.887)
|
Stock # |
R7192 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
83658360-83787790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83761890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 528
(Q528R)
|
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: Q416R
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000041880 Gene: ENSMUSG00000032624 AA Change: Q416R
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: Q528R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000094528 Gene: ENSMUSG00000032624 AA Change: Q528R
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: Q459R
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000107982 Gene: ENSMUSG00000032624 AA Change: Q459R
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
97% (72/74) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
G |
A |
2: 30,686,188 (GRCm39) |
T329I |
probably damaging |
Het |
Actl6a |
C |
A |
3: 32,774,373 (GRCm39) |
P290H |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,055,723 (GRCm39) |
|
probably null |
Het |
Anxa2r2 |
T |
A |
13: 120,488,241 (GRCm39) |
K103* |
probably null |
Het |
Bach1 |
C |
T |
16: 87,526,551 (GRCm39) |
S671L |
possibly damaging |
Het |
Cacna1c |
T |
C |
6: 118,633,210 (GRCm39) |
I1099V |
|
Het |
Cage1 |
G |
T |
13: 38,203,220 (GRCm39) |
P615T |
probably benign |
Het |
Caskin2 |
C |
A |
11: 115,692,202 (GRCm39) |
R861L |
probably damaging |
Het |
Cc2d2b |
A |
G |
19: 40,762,881 (GRCm39) |
T386A |
unknown |
Het |
Ccndbp1 |
A |
G |
2: 120,843,424 (GRCm39) |
D272G |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,983,599 (GRCm39) |
V1553E |
probably damaging |
Het |
Cfhr4 |
T |
A |
1: 139,667,033 (GRCm39) |
H414L |
probably damaging |
Het |
Chrm5 |
C |
T |
2: 112,310,672 (GRCm39) |
G148D |
probably damaging |
Het |
Cntnap4 |
T |
C |
8: 113,608,432 (GRCm39) |
V1284A |
probably benign |
Het |
Cpd |
T |
C |
11: 76,705,667 (GRCm39) |
Y355C |
probably damaging |
Het |
Csmd3 |
C |
T |
15: 47,567,633 (GRCm39) |
V1266I |
|
Het |
Cyfip2 |
T |
C |
11: 46,145,493 (GRCm39) |
E609G |
probably benign |
Het |
Dbr1 |
T |
C |
9: 99,458,755 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
T |
C |
18: 50,088,920 (GRCm39) |
Y2800H |
probably damaging |
Het |
Dnajc6 |
G |
T |
4: 101,455,000 (GRCm39) |
A64S |
probably benign |
Het |
Dpp8 |
A |
T |
9: 64,953,068 (GRCm39) |
N248I |
possibly damaging |
Het |
Dsp |
A |
T |
13: 38,379,569 (GRCm39) |
I2105F |
probably benign |
Het |
Edem1 |
G |
A |
6: 108,805,965 (GRCm39) |
V89M |
probably benign |
Het |
Epb42 |
A |
T |
2: 120,854,578 (GRCm39) |
V669D |
unknown |
Het |
Fat4 |
A |
T |
3: 39,034,613 (GRCm39) |
Q2755L |
probably benign |
Het |
Gata6 |
A |
G |
18: 11,054,475 (GRCm39) |
K135E |
possibly damaging |
Het |
Gmeb1 |
A |
T |
4: 131,955,201 (GRCm39) |
F325I |
probably benign |
Het |
H2-M10.3 |
C |
T |
17: 36,677,451 (GRCm39) |
E276K |
probably damaging |
Het |
H4c17 |
A |
T |
13: 21,996,227 (GRCm39) |
K92* |
probably null |
Het |
Ifi207 |
T |
C |
1: 173,556,584 (GRCm39) |
N718S |
not run |
Het |
Il6st |
A |
G |
13: 112,631,741 (GRCm39) |
N427D |
probably benign |
Het |
Kat7 |
T |
A |
11: 95,166,656 (GRCm39) |
M509L |
probably benign |
Het |
Klk1b4 |
T |
C |
7: 43,859,045 (GRCm39) |
V21A |
probably benign |
Het |
Malt1 |
T |
A |
18: 65,570,898 (GRCm39) |
L78Q |
probably benign |
Het |
Mertk |
A |
G |
2: 128,635,028 (GRCm39) |
|
probably null |
Het |
Myo1b |
A |
G |
1: 51,796,376 (GRCm39) |
L1016P |
probably damaging |
Het |
Neu4 |
A |
G |
1: 93,952,863 (GRCm39) |
I411V |
probably benign |
Het |
Nutm2 |
A |
T |
13: 50,627,105 (GRCm39) |
D420V |
probably damaging |
Het |
Or10j3b |
T |
A |
1: 173,043,575 (GRCm39) |
M119K |
probably damaging |
Het |
Or2w2 |
A |
G |
13: 21,758,539 (GRCm39) |
L29P |
probably damaging |
Het |
Or4k1 |
T |
C |
14: 50,377,577 (GRCm39) |
E173G |
possibly damaging |
Het |
Or5ac24 |
T |
C |
16: 59,165,542 (GRCm39) |
D174G |
probably benign |
Het |
Pcdha12 |
C |
T |
18: 37,153,316 (GRCm39) |
R12W |
probably benign |
Het |
Pdgfra |
G |
T |
5: 75,343,767 (GRCm39) |
D763Y |
probably damaging |
Het |
Pkd2 |
T |
C |
5: 104,634,523 (GRCm39) |
V518A |
probably benign |
Het |
Prb1a |
G |
T |
6: 132,184,335 (GRCm39) |
P433T |
unknown |
Het |
Ptrh2 |
A |
G |
11: 86,580,835 (GRCm39) |
T151A |
probably damaging |
Het |
Qars1 |
T |
A |
9: 108,388,760 (GRCm39) |
N273K |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,717,638 (GRCm39) |
Y1154C |
probably benign |
Het |
Rps6kc1 |
T |
A |
1: 190,532,556 (GRCm39) |
D482V |
probably damaging |
Het |
Sec16b |
T |
C |
1: 157,357,013 (GRCm39) |
S74P |
probably benign |
Het |
Serpinb2 |
A |
T |
1: 107,452,306 (GRCm39) |
I295F |
probably damaging |
Het |
Sh3pxd2b |
T |
A |
11: 32,364,318 (GRCm39) |
D301E |
probably damaging |
Het |
Sipa1l2 |
G |
A |
8: 126,149,348 (GRCm39) |
T1637I |
probably benign |
Het |
Slc27a4 |
A |
T |
2: 29,695,941 (GRCm39) |
N159Y |
probably damaging |
Het |
Stat1 |
A |
C |
1: 52,174,780 (GRCm39) |
K161Q |
possibly damaging |
Het |
Stc2 |
T |
C |
11: 31,319,872 (GRCm39) |
|
probably benign |
Het |
Strip1 |
A |
G |
3: 107,522,651 (GRCm39) |
W681R |
possibly damaging |
Het |
Sv2a |
G |
A |
3: 96,101,062 (GRCm39) |
G687S |
probably damaging |
Het |
Thnsl2 |
C |
T |
6: 71,116,739 (GRCm39) |
V138I |
probably benign |
Het |
Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
Tnfrsf1a |
T |
C |
6: 125,338,559 (GRCm39) |
S235P |
unknown |
Het |
Tpbg |
T |
A |
9: 85,726,085 (GRCm39) |
L18* |
probably null |
Het |
Trabd2b |
A |
T |
4: 114,467,217 (GRCm39) |
Q482L |
possibly damaging |
Het |
Trim35 |
T |
A |
14: 66,534,895 (GRCm39) |
F126Y |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,658,288 (GRCm39) |
V12364D |
unknown |
Het |
Ubac2 |
A |
G |
14: 122,211,128 (GRCm39) |
Y166C |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,258,519 (GRCm39) |
V1320D |
probably damaging |
Het |
Usp34 |
T |
A |
11: 23,410,571 (GRCm39) |
Y2693N |
|
Het |
Utp20 |
A |
T |
10: 88,608,321 (GRCm39) |
M1572K |
probably benign |
Het |
Vmn1r7 |
C |
T |
6: 57,001,452 (GRCm39) |
M269I |
probably benign |
Het |
Vmn2r3 |
C |
T |
3: 64,167,364 (GRCm39) |
G589D |
probably benign |
Het |
Vrtn |
A |
T |
12: 84,695,636 (GRCm39) |
M129L |
probably damaging |
Het |
Zfp273 |
A |
T |
13: 67,973,183 (GRCm39) |
T104S |
possibly damaging |
Het |
Zfp384 |
T |
A |
6: 125,010,275 (GRCm39) |
N390K |
probably damaging |
Het |
Znfx1 |
A |
G |
2: 166,884,110 (GRCm39) |
M933T |
probably benign |
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 |
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'- CTGCGAATTCACCCTGTAGC -3'
(R):5'- TTTCCTATGGGGAGGGAATGAAC -3'
Sequencing Primer
(F):5'- TAGCTCTGCTAAAGCTGGTTTCCAG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
Posted On |
2019-06-26 |