Incidental Mutation 'IGL02620:Elk4'
ID |
300811 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Elk4
|
Ensembl Gene |
ENSMUSG00000026436 |
Gene Name |
ELK4, member of ETS oncogene family |
Synonyms |
Sap1, A130026I01Rik, 2310011G17Rik |
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
IGL02620
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
131935129-131954186 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 131946109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 329
(A329D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027696]
[ENSMUST00000086556]
[ENSMUST00000126927]
[ENSMUST00000146432]
|
AlphaFold |
P41158 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027696
AA Change: A329D
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000027696 Gene: ENSMUSG00000026436 AA Change: A329D
Domain | Start | End | E-Value | Type |
ETS
|
4 |
89 |
4.95e-58 |
SMART |
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
low complexity region
|
208 |
219 |
N/A |
INTRINSIC |
low complexity region
|
245 |
264 |
N/A |
INTRINSIC |
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
low complexity region
|
360 |
373 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086556
AA Change: A329D
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000083743 Gene: ENSMUSG00000026436 AA Change: A329D
Domain | Start | End | E-Value | Type |
ETS
|
4 |
89 |
4.95e-58 |
SMART |
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
low complexity region
|
208 |
219 |
N/A |
INTRINSIC |
low complexity region
|
245 |
264 |
N/A |
INTRINSIC |
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
low complexity region
|
360 |
373 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124579
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126927
|
SMART Domains |
Protein: ENSMUSP00000116706 Gene: ENSMUSG00000059149
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
21 |
405 |
1.1e-11 |
PFAM |
transmembrane domain
|
433 |
455 |
N/A |
INTRINSIC |
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131159
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146188
|
Predicted Effect |
unknown
Transcript: ENSMUST00000147218
AA Change: A188D
|
SMART Domains |
Protein: ENSMUSP00000114255 Gene: ENSMUSG00000026436 AA Change: A188D
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
low complexity region
|
68 |
79 |
N/A |
INTRINSIC |
low complexity region
|
105 |
124 |
N/A |
INTRINSIC |
low complexity region
|
195 |
208 |
N/A |
INTRINSIC |
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163016
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191034
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146432
|
SMART Domains |
Protein: ENSMUSP00000118880 Gene: ENSMUSG00000026436
Domain | Start | End | E-Value | Type |
ETS
|
4 |
89 |
4.95e-58 |
SMART |
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
low complexity region
|
208 |
219 |
N/A |
INTRINSIC |
low complexity region
|
245 |
264 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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 Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mutation of this locus impairs thymocyte positive selection and results in reduced numbers of single-positive thymocytes and peripheral T cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
T |
8: 87,231,943 (GRCm39) |
|
probably null |
Het |
Bltp1 |
T |
C |
3: 37,090,094 (GRCm39) |
V4174A |
possibly damaging |
Het |
Ccdc150 |
T |
A |
1: 54,302,704 (GRCm39) |
L108* |
probably null |
Het |
Cdon |
C |
T |
9: 35,364,095 (GRCm39) |
T71I |
probably benign |
Het |
Chdh |
T |
C |
14: 29,753,096 (GRCm39) |
W2R |
probably damaging |
Het |
Ckap5 |
T |
G |
2: 91,436,714 (GRCm39) |
L1605V |
probably benign |
Het |
Cluh |
C |
T |
11: 74,555,893 (GRCm39) |
Q819* |
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cwc27 |
C |
A |
13: 104,938,714 (GRCm39) |
|
probably benign |
Het |
Fbxo40 |
T |
C |
16: 36,786,442 (GRCm39) |
H709R |
probably benign |
Het |
Flna |
A |
G |
X: 73,273,582 (GRCm39) |
|
probably benign |
Het |
Grip2 |
G |
T |
6: 91,755,587 (GRCm39) |
D592E |
possibly damaging |
Het |
H2-T24 |
T |
G |
17: 36,328,183 (GRCm39) |
N100T |
probably damaging |
Het |
Hepacam2 |
C |
A |
6: 3,487,280 (GRCm39) |
|
probably benign |
Het |
Ighv2-2 |
T |
A |
12: 113,551,912 (GRCm39) |
T109S |
possibly damaging |
Het |
Ipo11 |
T |
C |
13: 107,012,789 (GRCm39) |
|
probably null |
Het |
Kcnh8 |
T |
C |
17: 53,205,525 (GRCm39) |
M540T |
probably damaging |
Het |
Kifc3 |
A |
G |
8: 95,836,582 (GRCm39) |
S82P |
probably damaging |
Het |
Map4k5 |
T |
C |
12: 69,939,476 (GRCm39) |
Y20C |
probably benign |
Het |
Milr1 |
C |
A |
11: 106,645,744 (GRCm39) |
S95R |
probably damaging |
Het |
Mtnr1b |
A |
C |
9: 15,785,617 (GRCm39) |
V47G |
possibly damaging |
Het |
Nme1nme2 |
G |
T |
11: 93,843,682 (GRCm39) |
R173S |
possibly damaging |
Het |
Or6a2 |
T |
A |
7: 106,600,825 (GRCm39) |
K81* |
probably null |
Het |
Phactr2 |
T |
C |
10: 13,167,632 (GRCm39) |
R100G |
probably damaging |
Het |
Potefam1 |
C |
T |
2: 111,041,970 (GRCm39) |
V322I |
probably benign |
Het |
Ppargc1b |
A |
G |
18: 61,431,810 (GRCm39) |
Y997H |
probably damaging |
Het |
Pramel3a |
A |
G |
X: 134,211,158 (GRCm39) |
M397V |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 22,959,739 (GRCm39) |
K79E |
probably damaging |
Het |
Rabgef1 |
T |
C |
5: 130,219,863 (GRCm39) |
S109P |
probably damaging |
Het |
Raf1 |
A |
T |
6: 115,609,848 (GRCm39) |
|
probably benign |
Het |
Rptor |
T |
C |
11: 119,671,413 (GRCm39) |
L292P |
probably benign |
Het |
Slc25a45 |
A |
G |
19: 5,934,554 (GRCm39) |
D174G |
probably damaging |
Het |
Tbcd |
C |
T |
11: 121,352,081 (GRCm39) |
T146M |
probably damaging |
Het |
Zfp458 |
T |
A |
13: 67,406,058 (GRCm39) |
H127L |
probably damaging |
Het |
|
Other mutations in Elk4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01798:Elk4
|
APN |
1 |
131,945,592 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02376:Elk4
|
APN |
1 |
131,942,288 (GRCm39) |
missense |
probably benign |
0.27 |
IGL02503:Elk4
|
APN |
1 |
131,942,277 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03217:Elk4
|
APN |
1 |
131,945,778 (GRCm39) |
missense |
probably benign |
0.09 |
R1386:Elk4
|
UTSW |
1 |
131,945,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R4937:Elk4
|
UTSW |
1 |
131,945,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R6958:Elk4
|
UTSW |
1 |
131,945,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R7025:Elk4
|
UTSW |
1 |
131,947,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R7189:Elk4
|
UTSW |
1 |
131,947,127 (GRCm39) |
missense |
probably damaging |
0.99 |
R9067:Elk4
|
UTSW |
1 |
131,942,143 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9753:Elk4
|
UTSW |
1 |
131,945,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |