Incidental Mutation 'R9630:Eml4'
| ID |
725466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml4
|
| Ensembl Gene |
ENSMUSG00000032624 |
| Gene Name |
echinoderm microtubule associated protein like 4 |
| Synonyms |
4930443C24Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.887)
|
| Stock # |
R9630 (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 A
at 83717572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 48
(V48D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094528
(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: V48D
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624
AA Change: V48D
| 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: V48D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624
AA Change: V48D
| 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: V48D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624
AA Change: V48D
| 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: 99.7%
- 20x: 99.2%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l1 |
A |
G |
6: 48,952,756 (GRCm39) |
D227G |
probably damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,907,540 (GRCm39) |
M274T |
probably benign |
Het |
| Bco2 |
T |
C |
9: 50,456,757 (GRCm39) |
T128A |
possibly damaging |
Het |
| Bcr |
T |
A |
10: 74,966,950 (GRCm39) |
L519Q |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,587,571 (GRCm39) |
S306R |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,206,855 (GRCm39) |
E330G |
probably damaging |
Het |
| Ccdc8 |
A |
G |
7: 16,728,733 (GRCm39) |
K74R |
possibly damaging |
Het |
| Cdc42ep2 |
C |
A |
19: 5,968,363 (GRCm39) |
G114V |
|
Het |
| Celsr3 |
T |
C |
9: 108,704,296 (GRCm39) |
S260P |
probably benign |
Het |
| Clic4 |
G |
A |
4: 134,944,476 (GRCm39) |
T233I |
probably damaging |
Het |
| Clip2 |
C |
A |
5: 134,531,934 (GRCm39) |
D624Y |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,393,281 (GRCm39) |
S221P |
probably benign |
Het |
| Creb3l2 |
G |
T |
6: 37,356,808 (GRCm39) |
S86R |
possibly damaging |
Het |
| Cspp1 |
G |
A |
1: 10,108,292 (GRCm39) |
|
probably benign |
Het |
| Dusp13b |
A |
T |
14: 21,784,974 (GRCm39) |
N128K |
probably benign |
Het |
| Efnb2 |
T |
C |
8: 8,670,617 (GRCm39) |
S328G |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,518,844 (GRCm39) |
L335P |
possibly damaging |
Het |
| Fat2 |
A |
C |
11: 55,147,605 (GRCm39) |
V3879G |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,836,624 (GRCm39) |
L181P |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,926,438 (GRCm38) |
Y1827* |
probably null |
Het |
| Fuca2 |
A |
T |
10: 13,378,820 (GRCm39) |
Y71F |
probably benign |
Het |
| Gcn1 |
C |
A |
5: 115,741,349 (GRCm39) |
H1463N |
probably damaging |
Het |
| Ifitm10 |
C |
T |
7: 141,924,909 (GRCm39) |
A48T |
probably damaging |
Het |
| Iqce |
T |
C |
5: 140,666,591 (GRCm39) |
D385G |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,512,971 (GRCm39) |
|
probably null |
Het |
| Kdm7a |
A |
T |
6: 39,150,239 (GRCm39) |
S178T |
probably damaging |
Het |
| Mmp12 |
T |
A |
9: 7,347,516 (GRCm39) |
M31K |
probably benign |
Het |
| Mon2 |
C |
T |
10: 122,874,415 (GRCm39) |
R311H |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,980,341 (GRCm39) |
T1488A |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,407,988 (GRCm39) |
C3159S |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,302,470 (GRCm39) |
V346A |
probably damaging |
Het |
| Nfkbib |
A |
T |
7: 28,461,304 (GRCm39) |
Y114* |
probably null |
Het |
| Nr2c1 |
T |
A |
10: 93,998,285 (GRCm39) |
D76E |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,943,397 (GRCm39) |
R4251C |
probably benign |
Het |
| Or1ak2 |
T |
C |
2: 36,827,653 (GRCm39) |
I174T |
probably damaging |
Het |
| Or4a74 |
C |
A |
2: 89,440,349 (GRCm39) |
M32I |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,699,493 (GRCm39) |
M186V |
probably benign |
Het |
| Or6c33 |
T |
C |
10: 129,853,410 (GRCm39) |
F60S |
probably damaging |
Het |
| Or8h7 |
A |
C |
2: 86,720,956 (GRCm39) |
S188A |
probably damaging |
Het |
| Pced1a |
A |
T |
2: 130,261,109 (GRCm39) |
I416N |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,374,443 (GRCm39) |
D1897E |
probably benign |
Het |
| Pign |
A |
T |
1: 105,481,591 (GRCm39) |
F802I |
probably benign |
Het |
| Pik3c2g |
C |
A |
6: 139,599,237 (GRCm39) |
Q118K |
possibly damaging |
Het |
| Plcl2 |
A |
G |
17: 50,947,147 (GRCm39) |
M1009V |
probably benign |
Het |
| Ppil6 |
T |
A |
10: 41,370,550 (GRCm39) |
D59E |
probably benign |
Het |
| Rad23a |
T |
C |
8: 85,564,919 (GRCm39) |
D152G |
probably benign |
Het |
| Rif1 |
A |
G |
2: 51,979,607 (GRCm39) |
I430V |
probably damaging |
Het |
| Rint1 |
T |
C |
5: 24,020,810 (GRCm39) |
V611A |
possibly damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,596,408 (GRCm39) |
S811P |
probably benign |
Het |
| Scaf11 |
G |
A |
15: 96,316,049 (GRCm39) |
P1172S |
probably damaging |
Het |
| Sel1l3 |
T |
G |
5: 53,342,117 (GRCm39) |
N368H |
possibly damaging |
Het |
| Sele |
C |
A |
1: 163,879,523 (GRCm39) |
P352Q |
probably damaging |
Het |
| Serpinf1 |
T |
A |
11: 75,301,852 (GRCm39) |
T268S |
probably benign |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,828,722 (GRCm39) |
N1152K |
probably benign |
Het |
| Slc16a13 |
T |
C |
11: 70,108,597 (GRCm39) |
E411G |
possibly damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,379,390 (GRCm39) |
N459S |
possibly damaging |
Het |
| Srpk1 |
C |
A |
17: 28,819,404 (GRCm39) |
K268N |
probably benign |
Het |
| Ssbp3 |
A |
G |
4: 106,895,426 (GRCm39) |
Y258C |
probably damaging |
Het |
| Ssc5d |
C |
T |
7: 4,939,426 (GRCm39) |
P621S |
probably damaging |
Het |
| Strada |
T |
C |
11: 106,077,781 (GRCm39) |
Q61R |
unknown |
Het |
| Strn3 |
G |
A |
12: 51,657,013 (GRCm39) |
T755I |
probably damaging |
Het |
| Taf4b |
C |
G |
18: 14,930,077 (GRCm39) |
P150A |
probably damaging |
Het |
| Tmem236 |
T |
A |
2: 14,223,815 (GRCm39) |
H201Q |
probably benign |
Het |
| Top3b |
A |
G |
16: 16,710,354 (GRCm39) |
E728G |
probably benign |
Het |
| Tshr |
C |
T |
12: 91,504,409 (GRCm39) |
P449L |
probably damaging |
Het |
| Ugt2b36 |
C |
T |
5: 87,239,773 (GRCm39) |
G204D |
possibly damaging |
Het |
| Vldlr |
A |
T |
19: 27,207,623 (GRCm39) |
Q37L |
probably damaging |
Het |
| Zfat |
A |
T |
15: 67,990,793 (GRCm39) |
I1031N |
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 |
|
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 |
|
|
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'- TGGTGTAATTTTCTCACCAGAAGG -3'
(R):5'- CCTAAGCCTGTAAGGGATGTCAG -3'
Sequencing Primer
(F):5'- GGAAATTCTTTCTTGAACAGTCTGG -3'
(R):5'- ATGTCAGTGCTGTCACACAGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation