Incidental Mutation 'R0585:Eps8l3'
ID |
55701 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eps8l3
|
Ensembl Gene |
ENSMUSG00000040600 |
Gene Name |
EPS8-like 3 |
Synonyms |
|
MMRRC Submission |
038775-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0585 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
107784545-107800216 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 107788513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Histidine
at position 33
(D33H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037375]
[ENSMUST00000199990]
|
AlphaFold |
Q91WL0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037375
AA Change: D67H
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000042004 Gene: ENSMUSG00000040600 AA Change: D67H
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
28 |
155 |
3.7e-40 |
PFAM |
low complexity region
|
204 |
214 |
N/A |
INTRINSIC |
low complexity region
|
230 |
247 |
N/A |
INTRINSIC |
low complexity region
|
273 |
285 |
N/A |
INTRINSIC |
SH3
|
460 |
515 |
5.19e-15 |
SMART |
PDB:2E8M|A
|
516 |
582 |
3e-7 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198085
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000199990
AA Change: D33H
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000143754 Gene: ENSMUSG00000040600 AA Change: D33H
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
1 |
88 |
8.2e-26 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200198
|
Meta Mutation Damage Score |
0.1697 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.2%
|
Validation Efficiency |
100% (38/38) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Brdt |
T |
G |
5: 107,504,748 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
C |
T |
10: 41,462,375 (GRCm39) |
C1474Y |
probably benign |
Het |
Ces2e |
T |
C |
8: 105,656,453 (GRCm39) |
S228P |
probably damaging |
Het |
Clca3a1 |
G |
T |
3: 144,738,386 (GRCm39) |
H41N |
probably benign |
Het |
Cyp2c39 |
A |
T |
19: 39,525,203 (GRCm39) |
I169F |
probably benign |
Het |
Cyp2c65 |
A |
G |
19: 39,057,686 (GRCm39) |
K107R |
probably benign |
Het |
Cyp2c67 |
T |
A |
19: 39,627,138 (GRCm39) |
N231Y |
possibly damaging |
Het |
Evi5 |
T |
C |
5: 107,961,402 (GRCm39) |
|
probably benign |
Het |
Fcho1 |
T |
C |
8: 72,168,369 (GRCm39) |
Y218C |
probably damaging |
Het |
Gm3993 |
T |
A |
12: 20,122,149 (GRCm39) |
|
probably null |
Het |
Gtf2ird1 |
A |
C |
5: 134,405,796 (GRCm39) |
L28R |
probably damaging |
Het |
Hsf4 |
A |
G |
8: 105,997,663 (GRCm39) |
D75G |
probably damaging |
Het |
Iqca1l |
A |
G |
5: 24,755,721 (GRCm39) |
V267A |
probably benign |
Het |
Larp4b |
A |
G |
13: 9,197,529 (GRCm39) |
T249A |
probably damaging |
Het |
Larp4b |
A |
G |
13: 9,220,737 (GRCm39) |
D578G |
probably benign |
Het |
Lyz3 |
T |
A |
10: 117,074,356 (GRCm39) |
I44F |
possibly damaging |
Het |
Matn3 |
A |
T |
12: 9,011,103 (GRCm39) |
|
probably benign |
Het |
Myo10 |
T |
A |
15: 25,736,541 (GRCm39) |
Y428N |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,459,527 (GRCm39) |
D661E |
probably damaging |
Het |
Nktr |
A |
G |
9: 121,583,346 (GRCm39) |
|
probably benign |
Het |
Npbwr1 |
G |
A |
1: 5,986,677 (GRCm39) |
T279I |
possibly damaging |
Het |
Or52n3 |
A |
C |
7: 104,530,706 (GRCm39) |
H264P |
probably damaging |
Het |
Osmr |
T |
C |
15: 6,867,274 (GRCm39) |
I341V |
probably benign |
Het |
Pan2 |
T |
C |
10: 128,146,384 (GRCm39) |
|
probably null |
Het |
Pknox2 |
G |
A |
9: 36,821,056 (GRCm39) |
|
probably benign |
Het |
Pla2g2d |
A |
C |
4: 138,506,704 (GRCm39) |
D50A |
probably benign |
Het |
Ptprk |
C |
T |
10: 28,451,664 (GRCm39) |
L1051F |
probably damaging |
Het |
Rap1gds1 |
G |
A |
3: 138,727,633 (GRCm39) |
T59M |
probably benign |
Het |
Rps5 |
T |
C |
7: 12,659,332 (GRCm39) |
V41A |
possibly damaging |
Het |
Ryr1 |
G |
T |
7: 28,735,501 (GRCm39) |
D4092E |
probably damaging |
Het |
Spic |
T |
C |
10: 88,511,905 (GRCm39) |
Y117C |
probably damaging |
Het |
Thrap3 |
A |
T |
4: 126,072,367 (GRCm39) |
|
probably null |
Het |
Tlr9 |
C |
T |
9: 106,102,275 (GRCm39) |
T522I |
probably benign |
Het |
Tspan3 |
A |
T |
9: 56,053,216 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,703,503 (GRCm39) |
|
probably benign |
Het |
Zfp773 |
T |
A |
7: 7,135,574 (GRCm39) |
I341L |
probably benign |
Het |
Zmat3 |
G |
A |
3: 32,415,254 (GRCm39) |
P19S |
probably damaging |
Het |
|
Other mutations in Eps8l3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01627:Eps8l3
|
APN |
3 |
107,788,487 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01694:Eps8l3
|
APN |
3 |
107,799,624 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02748:Eps8l3
|
APN |
3 |
107,786,684 (GRCm39) |
intron |
probably benign |
|
PIT1430001:Eps8l3
|
UTSW |
3 |
107,792,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R0060:Eps8l3
|
UTSW |
3 |
107,786,857 (GRCm39) |
missense |
probably damaging |
0.98 |
R0060:Eps8l3
|
UTSW |
3 |
107,786,857 (GRCm39) |
missense |
probably damaging |
0.98 |
R0517:Eps8l3
|
UTSW |
3 |
107,790,776 (GRCm39) |
missense |
probably benign |
|
R0555:Eps8l3
|
UTSW |
3 |
107,799,661 (GRCm39) |
missense |
probably benign |
|
R0646:Eps8l3
|
UTSW |
3 |
107,792,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R0741:Eps8l3
|
UTSW |
3 |
107,790,141 (GRCm39) |
missense |
probably benign |
|
R1682:Eps8l3
|
UTSW |
3 |
107,798,622 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1844:Eps8l3
|
UTSW |
3 |
107,786,902 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1900:Eps8l3
|
UTSW |
3 |
107,798,268 (GRCm39) |
missense |
probably benign |
0.16 |
R1937:Eps8l3
|
UTSW |
3 |
107,791,708 (GRCm39) |
missense |
probably benign |
0.02 |
R2010:Eps8l3
|
UTSW |
3 |
107,786,688 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R2973:Eps8l3
|
UTSW |
3 |
107,798,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R4369:Eps8l3
|
UTSW |
3 |
107,798,330 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4803:Eps8l3
|
UTSW |
3 |
107,798,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R4926:Eps8l3
|
UTSW |
3 |
107,798,004 (GRCm39) |
splice site |
probably benign |
|
R5420:Eps8l3
|
UTSW |
3 |
107,791,301 (GRCm39) |
nonsense |
probably null |
|
R5580:Eps8l3
|
UTSW |
3 |
107,788,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R5593:Eps8l3
|
UTSW |
3 |
107,798,504 (GRCm39) |
unclassified |
probably benign |
|
R5699:Eps8l3
|
UTSW |
3 |
107,786,895 (GRCm39) |
missense |
probably benign |
0.06 |
R5705:Eps8l3
|
UTSW |
3 |
107,798,580 (GRCm39) |
missense |
probably benign |
0.01 |
R5972:Eps8l3
|
UTSW |
3 |
107,791,763 (GRCm39) |
splice site |
probably null |
|
R6250:Eps8l3
|
UTSW |
3 |
107,797,781 (GRCm39) |
missense |
probably benign |
0.01 |
R7097:Eps8l3
|
UTSW |
3 |
107,791,801 (GRCm39) |
splice site |
probably null |
|
R7967:Eps8l3
|
UTSW |
3 |
107,798,604 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9587:Eps8l3
|
UTSW |
3 |
107,798,683 (GRCm39) |
missense |
probably benign |
0.28 |
Z1177:Eps8l3
|
UTSW |
3 |
107,788,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGAAGCCTCTTCAAGAGCCCAAC -3'
(R):5'- CCTTGCCTCTACCTGGTTTGAGATG -3'
Sequencing Primer
(F):5'- GTATTGAGAAACATGGTCTTCCCC -3'
(R):5'- CTCTACCTGGTTTGAGATGTGTATTG -3'
|
Posted On |
2013-07-11 |