Incidental Mutation 'R4169:Elk3'
| ID |
320703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elk3
|
| Ensembl Gene |
ENSMUSG00000008398 |
| Gene Name |
ELK3, member of ETS oncogene family |
| Synonyms |
Sap-2, Net, D430049E23Rik, Erp |
| MMRRC Submission |
041010-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R4169 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
93083276-93146997 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 93101197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008542]
[ENSMUST00000129827]
[ENSMUST00000151153]
[ENSMUST00000215286]
[ENSMUST00000223340]
|
| AlphaFold |
P41971 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008542
AA Change: F185L
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000008542
Gene: ENSMUSG00000008398
AA Change: F185L
| Domain | Start | End | E-Value | Type |
|---|
|
ETS
|
4 |
89 |
1.56e-55 |
SMART |
|
low complexity region
|
200 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
299 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
367 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129827
|
| SMART Domains |
Protein: ENSMUSP00000122324
Gene: ENSMUSG00000008398
| Domain | Start | End | E-Value | Type |
|---|
|
ETS
|
4 |
89 |
1.56e-55 |
SMART |
|
low complexity region
|
200 |
217 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151153
|
| SMART Domains |
Protein: ENSMUSP00000121754
Gene: ENSMUSG00000008398
| Domain | Start | End | E-Value | Type |
|---|
|
ETS
|
4 |
80 |
7.6e-36 |
SMART |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215286
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216729
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223340
|
| Meta Mutation Damage Score |
0.2380 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygotes for a null allele develop a vascular defect associated with lymphangiectasis and die prematurely due to respiratory failure resulting from chylothorax. Homozygotes for a different null allele show a transient delay in retinal primary plexus vascularization and tortuous retinal arteries. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
T |
C |
4: 152,302,250 (GRCm39) |
C121R |
probably damaging |
Het |
| Ampd1 |
T |
A |
3: 103,002,157 (GRCm39) |
M546K |
probably damaging |
Het |
| Birc2 |
T |
A |
9: 7,849,684 (GRCm39) |
D535V |
possibly damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,649,325 (GRCm39) |
L9P |
probably benign |
Het |
| Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,479,391 (GRCm39) |
P758L |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,476,549 (GRCm39) |
Y241* |
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,205,872 (GRCm39) |
T1042A |
possibly damaging |
Het |
| Gm5445 |
A |
G |
13: 12,393,527 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat3 |
T |
C |
5: 18,208,862 (GRCm39) |
F189L |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,837,008 (GRCm39) |
T815A |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,471,750 (GRCm39) |
|
probably null |
Het |
| Hrc |
A |
G |
7: 44,986,181 (GRCm39) |
D444G |
probably benign |
Het |
| Ighv1-53 |
T |
A |
12: 115,122,166 (GRCm39) |
I70F |
possibly damaging |
Het |
| Kat7 |
A |
G |
11: 95,171,298 (GRCm39) |
F469L |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Krt81 |
T |
A |
15: 101,359,193 (GRCm39) |
M242L |
probably benign |
Het |
| Krtap6-1 |
A |
G |
16: 88,828,584 (GRCm39) |
|
probably null |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mthfr-ps1 |
T |
C |
5: 78,622,436 (GRCm39) |
|
noncoding transcript |
Het |
| Nop53 |
A |
T |
7: 15,676,244 (GRCm39) |
W152R |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,591 (GRCm39) |
M62K |
probably damaging |
Het |
| Or6y1 |
T |
A |
1: 174,277,162 (GRCm39) |
S324R |
unknown |
Het |
| Or8s8 |
A |
G |
15: 98,354,878 (GRCm39) |
E229G |
probably benign |
Het |
| Pcdh1 |
A |
T |
18: 38,331,358 (GRCm39) |
N548K |
probably damaging |
Het |
| Pcdhga12 |
A |
G |
18: 37,899,467 (GRCm39) |
I100V |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,183,675 (GRCm39) |
H1743R |
probably benign |
Het |
| Pkdrej |
A |
G |
15: 85,700,515 (GRCm39) |
V1807A |
probably benign |
Het |
| Rabl2 |
T |
C |
15: 89,474,582 (GRCm39) |
M1V |
probably null |
Het |
| Rexo5 |
A |
G |
7: 119,426,621 (GRCm39) |
|
probably benign |
Het |
| Rfng |
C |
G |
11: 120,674,772 (GRCm39) |
G73R |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,809,188 (GRCm39) |
L459P |
possibly damaging |
Het |
| Samd11 |
T |
A |
4: 156,332,203 (GRCm39) |
D536V |
probably damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,084,032 (GRCm39) |
T451A |
possibly damaging |
Het |
| Snapc1 |
T |
A |
12: 74,029,265 (GRCm39) |
N349K |
probably benign |
Het |
| Sox1ot |
A |
G |
8: 12,480,544 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem178 |
C |
T |
17: 81,252,232 (GRCm39) |
H39Y |
possibly damaging |
Het |
| Trav8n-2 |
A |
T |
14: 53,583,875 (GRCm39) |
T111S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,703,103 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,762,909 (GRCm39) |
D3250G |
probably damaging |
Het |
| Ube2nl |
T |
A |
7: 61,199,380 (GRCm39) |
|
noncoding transcript |
Het |
| Vps25 |
T |
C |
11: 101,144,918 (GRCm39) |
S39P |
probably damaging |
Het |
| Zkscan14 |
G |
A |
5: 145,132,985 (GRCm39) |
T182I |
possibly damaging |
Het |
|
| Other mutations in Elk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00591:Elk3
|
APN |
10 |
93,120,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02566:Elk3
|
APN |
10 |
93,101,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03251:Elk3
|
APN |
10 |
93,090,683 (GRCm39) |
splice site |
probably null |
|
|
R0308:Elk3
|
UTSW |
10 |
93,101,067 (GRCm39) |
missense |
probably benign |
|
|
R0594:Elk3
|
UTSW |
10 |
93,101,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Elk3
|
UTSW |
10 |
93,101,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1190:Elk3
|
UTSW |
10 |
93,101,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2021:Elk3
|
UTSW |
10 |
93,101,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Elk3
|
UTSW |
10 |
93,101,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2418:Elk3
|
UTSW |
10 |
93,120,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3935:Elk3
|
UTSW |
10 |
93,101,035 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4167:Elk3
|
UTSW |
10 |
93,101,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4168:Elk3
|
UTSW |
10 |
93,101,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4170:Elk3
|
UTSW |
10 |
93,101,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5864:Elk3
|
UTSW |
10 |
93,120,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6171:Elk3
|
UTSW |
10 |
93,085,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6743:Elk3
|
UTSW |
10 |
93,100,912 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGAAGAGGCTTCTGTGTTCAG -3'
(R):5'- TCTCTCAAAAGTGCCAGCCG -3'
Sequencing Primer
(F):5'- CTGTGTTCAGAAGGGAGGG -3'
(R):5'- GCCGCAACGAGTACCTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation