Incidental Mutation 'R4466:Eml4'
| ID |
330371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml4
|
| Ensembl Gene |
ENSMUSG00000032624 |
| Gene Name |
echinoderm microtubule associated protein like 4 |
| Synonyms |
4930443C24Rik |
| MMRRC Submission |
041723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.887)
|
| Stock # |
R4466 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
83658360-83787790 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 83729103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 93
(Q93*)
|
| 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 null
Transcript: ENSMUST00000049503
AA Change: Q93*
|
| SMART Domains |
Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624
AA Change: Q93*
| 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 null
Transcript: ENSMUST00000096766
AA Change: Q93*
|
| SMART Domains |
Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624
AA Change: Q93*
| 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 null
Transcript: ENSMUST00000112363
AA Change: Q93*
|
| SMART Domains |
Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624
AA Change: Q93*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (55/56) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
A |
T |
3: 59,745,887 (GRCm39) |
|
noncoding transcript |
Het |
| Adgra1 |
T |
A |
7: 139,420,752 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,252,521 (GRCm39) |
|
probably null |
Het |
| Amn1 |
T |
C |
6: 149,068,343 (GRCm39) |
|
probably null |
Het |
| Ano5 |
T |
A |
7: 51,220,023 (GRCm39) |
F374I |
probably damaging |
Het |
| Apol7c |
T |
C |
15: 77,410,664 (GRCm39) |
E94G |
probably benign |
Het |
| Arid4b |
A |
T |
13: 14,307,095 (GRCm39) |
S117C |
probably damaging |
Het |
| Atm |
C |
A |
9: 53,359,469 (GRCm39) |
E2778* |
probably null |
Het |
| Cped1 |
A |
T |
6: 22,123,651 (GRCm39) |
Q468L |
probably benign |
Het |
| Crygb |
A |
G |
1: 65,119,645 (GRCm39) |
S112P |
probably damaging |
Het |
| Eeig2 |
T |
A |
3: 108,887,124 (GRCm39) |
R291S |
probably benign |
Het |
| Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,684,969 (GRCm39) |
S457T |
probably damaging |
Het |
| Frmd4b |
A |
G |
6: 97,300,614 (GRCm39) |
|
probably null |
Het |
| Gm5134 |
G |
C |
10: 75,844,409 (GRCm39) |
K588N |
probably benign |
Het |
| Gpr21 |
A |
G |
2: 37,407,570 (GRCm39) |
T39A |
probably benign |
Het |
| Irx1 |
C |
A |
13: 72,108,101 (GRCm39) |
G194W |
probably damaging |
Het |
| Itgal |
C |
T |
7: 126,927,684 (GRCm39) |
T992I |
possibly damaging |
Het |
| Itpr3 |
T |
C |
17: 27,325,316 (GRCm39) |
L1303P |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,370,328 (GRCm39) |
D1052E |
probably damaging |
Het |
| Klhl6 |
T |
C |
16: 19,776,018 (GRCm39) |
D180G |
probably damaging |
Het |
| M6pr |
A |
G |
6: 122,290,228 (GRCm39) |
T64A |
probably benign |
Het |
| Mrpl47 |
G |
A |
3: 32,784,240 (GRCm39) |
R177* |
probably null |
Het |
| Mtfr2 |
A |
G |
10: 20,224,159 (GRCm39) |
Y31C |
probably damaging |
Het |
| Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
| Oas2 |
A |
G |
5: 120,887,667 (GRCm39) |
S58P |
probably damaging |
Het |
| Or1j11 |
A |
T |
2: 36,312,308 (GRCm39) |
R299S |
probably benign |
Het |
| Or5b124 |
G |
A |
19: 13,610,801 (GRCm39) |
E109K |
probably damaging |
Het |
| Or8b36 |
T |
A |
9: 37,937,479 (GRCm39) |
C126S |
probably damaging |
Het |
| Polr1b |
A |
T |
2: 128,965,802 (GRCm39) |
I815L |
probably benign |
Het |
| Psma8 |
T |
C |
18: 14,854,231 (GRCm39) |
I37T |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,483,447 (GRCm39) |
E4100G |
possibly damaging |
Het |
| Serpina3g |
C |
T |
12: 104,204,182 (GRCm39) |
|
probably benign |
Het |
| Serpina3m |
A |
T |
12: 104,357,874 (GRCm39) |
Y266F |
probably damaging |
Het |
| Sez6l2 |
T |
A |
7: 126,559,023 (GRCm39) |
D423E |
probably damaging |
Het |
| Sh3gl2 |
A |
G |
4: 85,299,688 (GRCm39) |
E224G |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,353,146 (GRCm39) |
V105A |
possibly damaging |
Het |
| Slc24a2 |
A |
T |
4: 87,146,099 (GRCm39) |
|
probably benign |
Het |
| Smyd2 |
A |
G |
1: 189,614,349 (GRCm39) |
M393T |
probably benign |
Het |
| Sox8 |
C |
A |
17: 25,787,879 (GRCm39) |
G190V |
probably benign |
Het |
| Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
| Stk35 |
C |
A |
2: 129,643,436 (GRCm39) |
T140K |
probably damaging |
Het |
| Taf6 |
A |
C |
5: 138,179,463 (GRCm39) |
|
probably benign |
Het |
| Ten1 |
A |
C |
11: 116,095,823 (GRCm39) |
|
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,544,044 (GRCm39) |
F32981L |
probably damaging |
Het |
| Zik1 |
G |
T |
7: 10,224,893 (GRCm39) |
T68K |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,815,485 (GRCm39) |
I2935N |
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 |
|
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 |
|
|
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'- GTCAGCTAACTCTGTGCCCTAG -3'
(R):5'- AGGAATTCAAGGCATGCGTG -3'
Sequencing Primer
(F):5'- TGCTGGTCGGACCGAAAG -3'
(R):5'- TGCGTGCTTGACTCCCACAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation