Incidental Mutation 'R2170:Eps8l2'
| ID |
237431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps8l2
|
| Ensembl Gene |
ENSMUSG00000025504 |
| Gene Name |
EPS8-like 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140918824-140942933 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140921984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 21
(S21P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026577]
[ENSMUST00000026578]
[ENSMUST00000143633]
[ENSMUST00000145184]
|
| AlphaFold |
Q99K30 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026577
AA Change: S21P
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000026577
Gene: ENSMUSG00000025504
AA Change: S21P
| 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 |
probably benign
Transcript: ENSMUST00000026578
|
| SMART Domains |
Protein: ENSMUSP00000026578
Gene: ENSMUSG00000025505
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Transmemb_17
|
1 |
108 |
2.4e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136736
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140025
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143633
AA Change: S21P
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145108
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145184
|
| SMART Domains |
Protein: ENSMUSP00000117633
Gene: ENSMUSG00000025505
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:Transmemb_17
|
25 |
78 |
5.4e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146042
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,697,896 (GRCm39) |
S404P |
probably damaging |
Het |
| 4933434E20Rik |
T |
A |
3: 89,963,611 (GRCm39) |
L89Q |
probably benign |
Het |
| Atxn2l |
T |
A |
7: 126,102,411 (GRCm39) |
|
probably benign |
Het |
| Bcl6 |
A |
G |
16: 23,793,680 (GRCm39) |
F89S |
probably damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,095,168 (GRCm39) |
S1977T |
probably benign |
Het |
| Ccr1l1 |
C |
A |
9: 123,778,172 (GRCm39) |
V92F |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Chrne |
T |
C |
11: 70,509,323 (GRCm39) |
N86S |
probably damaging |
Het |
| Copg2 |
CCTCATC |
CC |
6: 30,789,757 (GRCm39) |
|
probably null |
Het |
| Elapor2 |
A |
G |
5: 9,529,206 (GRCm39) |
D221G |
probably damaging |
Het |
| Glb1 |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
9: 114,302,873 (GRCm39) |
|
probably benign |
Het |
| Gngt2 |
A |
G |
11: 95,728,071 (GRCm39) |
|
probably benign |
Het |
| Hecw2 |
T |
A |
1: 53,981,956 (GRCm39) |
E135V |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,270,293 (GRCm39) |
A1177T |
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,557,773 (GRCm39) |
V272A |
probably damaging |
Het |
| Kif17 |
A |
G |
4: 138,015,682 (GRCm39) |
I418M |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,918,075 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
C |
T |
1: 153,124,888 (GRCm39) |
A628T |
probably benign |
Het |
| Mag |
A |
T |
7: 30,608,412 (GRCm39) |
L234* |
probably null |
Het |
| Muc5ac |
T |
A |
7: 141,366,084 (GRCm39) |
V2080E |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,871,724 (GRCm39) |
D2119G |
probably benign |
Het |
| Ncam1 |
C |
T |
9: 49,709,981 (GRCm39) |
A17T |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,322,702 (GRCm39) |
Y2570H |
probably damaging |
Het |
| Oasl2 |
T |
C |
5: 115,044,861 (GRCm39) |
V129A |
probably damaging |
Het |
| Or14a257 |
T |
A |
7: 86,137,778 (GRCm39) |
H327L |
probably benign |
Het |
| Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
| Podn |
A |
T |
4: 107,879,730 (GRCm39) |
L85Q |
probably damaging |
Het |
| Ppp1r12c |
A |
T |
7: 4,485,805 (GRCm39) |
D680E |
possibly damaging |
Het |
| Prdm14 |
G |
A |
1: 13,192,684 (GRCm39) |
L352F |
probably damaging |
Het |
| Prob1 |
G |
T |
18: 35,787,790 (GRCm39) |
Q155K |
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,069,215 (GRCm39) |
L737S |
possibly damaging |
Het |
| Stard5 |
A |
G |
7: 83,282,366 (GRCm39) |
T60A |
probably benign |
Het |
| Syt7 |
A |
G |
19: 10,416,744 (GRCm39) |
K402E |
probably damaging |
Het |
| Tll2 |
T |
A |
19: 41,171,714 (GRCm39) |
D69V |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,957 (GRCm39) |
F258S |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,284,812 (GRCm39) |
Y19N |
possibly damaging |
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 |
|
IGL03251:Eps8l2
|
APN |
7 |
140,922,875 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAAGGGTCAGCTGAGCTC -3'
(R):5'- CCAGAGTTCTCAGTGAAGTAGG -3'
Sequencing Primer
(F):5'- AAAGGGTCAGCTGAGCTCTTCTG -3'
(R):5'- TCTCAGTGAAGTAGGGTCCAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation