Incidental Mutation 'IGL03251:Eps8l2'
| ID |
414920 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eps8l2
|
| Ensembl Gene |
ENSMUSG00000025504 |
| Gene Name |
EPS8-like 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03251
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140918824-140942933 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 140922875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 46
(M46K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026577]
[ENSMUST00000143633]
|
| AlphaFold |
Q99K30 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026577
AA Change: M46K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026577
Gene: ENSMUSG00000025504
AA Change: M46K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
51 |
181 |
6.6e-50 |
PFAM |
|
Pfam:PID
|
52 |
175 |
5.9e-9 |
PFAM |
|
low complexity region
|
196 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
299 |
N/A |
INTRINSIC |
|
SH3
|
498 |
553 |
2.11e-15 |
SMART |
|
PDB:1WWU|A
|
614 |
700 |
2e-46 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136736
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140025
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143633
AA Change: M46K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145108
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210251
|
| 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 encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a null mutation display late onset progressive hearing loss and gradual deterioration of cochlear hair cell stereocilliary bundles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,631,661 (GRCm39) |
|
probably benign |
Het |
| Cdkl2 |
A |
G |
5: 92,181,585 (GRCm39) |
I132T |
probably damaging |
Het |
| Ckap4 |
A |
T |
10: 84,364,469 (GRCm39) |
I198N |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,737,898 (GRCm39) |
R600H |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,686,433 (GRCm39) |
I239T |
probably benign |
Het |
| Ei24 |
A |
G |
9: 36,691,405 (GRCm39) |
*359R |
probably null |
Het |
| Elk3 |
A |
T |
10: 93,090,683 (GRCm39) |
|
probably null |
Het |
| Frem2 |
G |
T |
3: 53,479,729 (GRCm39) |
T1988N |
probably benign |
Het |
| Gm5431 |
T |
C |
11: 48,785,548 (GRCm39) |
K276E |
probably benign |
Het |
| Gm8220 |
T |
A |
14: 44,525,729 (GRCm39) |
C133S |
possibly damaging |
Het |
| Hectd2 |
T |
C |
19: 36,562,926 (GRCm39) |
L168P |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,217,228 (GRCm39) |
D1372V |
probably damaging |
Het |
| Isl1 |
T |
C |
13: 116,441,985 (GRCm39) |
S83G |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,490,279 (GRCm39) |
I107T |
probably benign |
Het |
| Mlc1 |
A |
T |
15: 88,858,934 (GRCm39) |
V117D |
possibly damaging |
Het |
| Ndc1 |
A |
G |
4: 107,237,856 (GRCm39) |
E220G |
possibly damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,448,427 (GRCm39) |
M210K |
probably benign |
Het |
| Or2z8 |
A |
T |
8: 72,811,920 (GRCm39) |
Y132F |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,691,423 (GRCm39) |
E60G |
possibly damaging |
Het |
| Pld1 |
G |
A |
3: 28,142,814 (GRCm39) |
R674H |
probably benign |
Het |
| Ppp1r13l |
G |
A |
7: 19,102,794 (GRCm39) |
|
probably benign |
Het |
| Ppp2cb |
A |
T |
8: 34,100,679 (GRCm39) |
|
probably benign |
Het |
| Rchy1 |
G |
T |
5: 92,110,502 (GRCm39) |
A26D |
probably benign |
Het |
| Rrm1 |
T |
C |
7: 102,106,413 (GRCm39) |
F311L |
probably damaging |
Het |
| Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
| Slc24a4 |
T |
C |
12: 102,189,084 (GRCm39) |
L173P |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,640,826 (GRCm39) |
|
probably null |
Het |
| Tube1 |
T |
A |
10: 39,010,977 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
C |
T |
10: 88,653,188 (GRCm39) |
|
probably null |
Het |
| Vmn2r55 |
T |
C |
7: 12,405,120 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Eps8l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01420:Eps8l2
|
APN |
7 |
140,937,576 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01444:Eps8l2
|
APN |
7 |
140,941,288 (GRCm39) |
splice site |
probably benign |
|
|
IGL01467:Eps8l2
|
APN |
7 |
140,941,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01803:Eps8l2
|
APN |
7 |
140,938,143 (GRCm39) |
missense |
probably benign |
|
|
IGL02598:Eps8l2
|
APN |
7 |
140,934,849 (GRCm39) |
splice site |
probably benign |
|
|
IGL02823:Eps8l2
|
APN |
7 |
140,921,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03061:Eps8l2
|
APN |
7 |
140,937,148 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03112:Eps8l2
|
APN |
7 |
140,941,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Eps8l2
|
UTSW |
7 |
140,922,884 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0133:Eps8l2
|
UTSW |
7 |
140,942,120 (GRCm39) |
missense |
unknown |
|
|
R0361:Eps8l2
|
UTSW |
7 |
140,936,112 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0409:Eps8l2
|
UTSW |
7 |
140,922,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0611:Eps8l2
|
UTSW |
7 |
140,935,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1487:Eps8l2
|
UTSW |
7 |
140,941,531 (GRCm39) |
missense |
probably benign |
|
|
R1679:Eps8l2
|
UTSW |
7 |
140,940,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1914:Eps8l2
|
UTSW |
7 |
140,941,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1915:Eps8l2
|
UTSW |
7 |
140,941,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Eps8l2
|
UTSW |
7 |
140,941,637 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2098:Eps8l2
|
UTSW |
7 |
140,935,705 (GRCm39) |
splice site |
probably null |
|
|
R2170:Eps8l2
|
UTSW |
7 |
140,921,984 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3429:Eps8l2
|
UTSW |
7 |
140,937,832 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3734:Eps8l2
|
UTSW |
7 |
140,937,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4296:Eps8l2
|
UTSW |
7 |
140,938,175 (GRCm39) |
nonsense |
probably null |
|
|
R4701:Eps8l2
|
UTSW |
7 |
140,937,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Eps8l2
|
UTSW |
7 |
140,940,286 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5564:Eps8l2
|
UTSW |
7 |
140,936,534 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5567:Eps8l2
|
UTSW |
7 |
140,934,920 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5570:Eps8l2
|
UTSW |
7 |
140,934,920 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5735:Eps8l2
|
UTSW |
7 |
140,940,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5893:Eps8l2
|
UTSW |
7 |
140,937,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5905:Eps8l2
|
UTSW |
7 |
140,937,746 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5927:Eps8l2
|
UTSW |
7 |
140,936,259 (GRCm39) |
missense |
probably benign |
|
|
R6028:Eps8l2
|
UTSW |
7 |
140,937,746 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6248:Eps8l2
|
UTSW |
7 |
140,922,015 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6631:Eps8l2
|
UTSW |
7 |
140,936,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7152:Eps8l2
|
UTSW |
7 |
140,935,678 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7231:Eps8l2
|
UTSW |
7 |
140,940,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8071:Eps8l2
|
UTSW |
7 |
140,922,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9021:Eps8l2
|
UTSW |
7 |
140,936,117 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Eps8l2
|
UTSW |
7 |
140,922,008 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2016-08-02 |
Incidental Mutation