Incidental Mutation 'IGL02305:Eps15l1'
| ID |
287560 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eps15l1
|
| Ensembl Gene |
ENSMUSG00000006276 |
| Gene Name |
epidermal growth factor receptor pathway substrate 15-like 1 |
| Synonyms |
Eps15-rs, 9830147J04Rik, Eps15R |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
IGL02305
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
73094843-73175304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73140853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 213
(K213R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163643]
[ENSMUST00000212121]
[ENSMUST00000212590]
|
| AlphaFold |
Q60902 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000163643
AA Change: K213R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129739
Gene: ENSMUSG00000006276
AA Change: K213R
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
8 |
103 |
1.45e-21 |
SMART |
|
EFh
|
52 |
80 |
6.56e0 |
SMART |
|
EH
|
120 |
214 |
6.1e-47 |
SMART |
|
EFh
|
163 |
191 |
4.35e-2 |
SMART |
|
low complexity region
|
241 |
255 |
N/A |
INTRINSIC |
|
EH
|
266 |
362 |
5.08e-44 |
SMART |
|
EFh
|
276 |
304 |
1.09e0 |
SMART |
|
coiled coil region
|
381 |
564 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
615 |
656 |
1.56e-6 |
PROSPERO |
|
low complexity region
|
661 |
678 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
722 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
743 |
N/A |
INTRINSIC |
|
low complexity region
|
746 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
790 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
809 |
839 |
1.56e-6 |
PROSPERO |
|
low complexity region
|
840 |
853 |
N/A |
INTRINSIC |
|
UIM
|
863 |
882 |
3.98e1 |
SMART |
|
UIM
|
889 |
907 |
3.76e2 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212121
AA Change: K213R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212590
AA Change: K213R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212950
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,921,048 (GRCm39) |
T599I |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,846,796 (GRCm39) |
T409A |
probably benign |
Het |
| Apol10b |
T |
A |
15: 77,469,630 (GRCm39) |
R182S |
possibly damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,297,590 (GRCm39) |
F492L |
probably benign |
Het |
| Ccdc136 |
A |
G |
6: 29,406,173 (GRCm39) |
D173G |
probably damaging |
Het |
| Ccndbp1 |
T |
C |
2: 120,841,933 (GRCm39) |
L67P |
probably damaging |
Het |
| Dync2h1 |
C |
T |
9: 7,122,678 (GRCm39) |
V2093I |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,064,137 (GRCm39) |
N4698Y |
probably damaging |
Het |
| Frmpd1 |
G |
T |
4: 45,249,209 (GRCm39) |
R133L |
probably damaging |
Het |
| Gdi2 |
T |
A |
13: 3,606,428 (GRCm39) |
M158K |
probably damaging |
Het |
| Hoxc8 |
A |
G |
15: 102,901,025 (GRCm39) |
Y156C |
probably damaging |
Het |
| Iho1 |
A |
T |
9: 108,283,031 (GRCm39) |
M219K |
possibly damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,527,658 (GRCm39) |
D898G |
possibly damaging |
Het |
| Kng2 |
T |
C |
16: 22,819,374 (GRCm39) |
|
probably benign |
Het |
| Men1 |
T |
C |
19: 6,390,168 (GRCm39) |
L566P |
probably damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,706,551 (GRCm39) |
W153R |
probably damaging |
Het |
| Mug2 |
T |
G |
6: 122,013,015 (GRCm39) |
L309R |
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,700,836 (GRCm39) |
*2165R |
probably null |
Het |
| Ogfod2 |
T |
C |
5: 124,250,910 (GRCm39) |
|
probably null |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Or8g20 |
A |
T |
9: 39,396,333 (GRCm39) |
I72N |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,160,985 (GRCm39) |
L366P |
probably damaging |
Het |
| Pdlim4 |
A |
T |
11: 53,946,759 (GRCm39) |
L117H |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,852,467 (GRCm39) |
A672V |
probably benign |
Het |
| Pomt2 |
A |
G |
12: 87,164,703 (GRCm39) |
|
probably benign |
Het |
| Prpf4 |
T |
A |
4: 62,333,633 (GRCm39) |
|
probably benign |
Het |
| Rad17 |
C |
T |
13: 100,770,370 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,475,622 (GRCm39) |
I4499F |
probably damaging |
Het |
| Sav1 |
A |
G |
12: 70,033,550 (GRCm39) |
|
probably benign |
Het |
| Scube1 |
A |
T |
15: 83,491,591 (GRCm39) |
F887I |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,195,179 (GRCm39) |
S473G |
probably benign |
Het |
| Taf1b |
T |
C |
12: 24,594,270 (GRCm39) |
S268P |
possibly damaging |
Het |
| Tmem135 |
A |
T |
7: 88,814,331 (GRCm39) |
|
probably null |
Het |
| Vmn2r104 |
A |
T |
17: 20,263,118 (GRCm39) |
N114K |
probably benign |
Het |
| Ypel5 |
A |
T |
17: 73,155,591 (GRCm39) |
Y53F |
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,213,674 (GRCm39) |
V428A |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,757,423 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Eps15l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00401:Eps15l1
|
APN |
8 |
73,138,682 (GRCm39) |
nonsense |
probably null |
|
|
IGL01316:Eps15l1
|
APN |
8 |
73,143,258 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01344:Eps15l1
|
APN |
8 |
73,136,169 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01918:Eps15l1
|
APN |
8 |
73,121,756 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01982:Eps15l1
|
APN |
8 |
73,132,919 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02939:Eps15l1
|
APN |
8 |
73,138,606 (GRCm39) |
splice site |
probably benign |
|
|
IGL02951:Eps15l1
|
APN |
8 |
73,112,240 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0025:Eps15l1
|
UTSW |
8 |
73,135,341 (GRCm39) |
splice site |
probably benign |
|
|
R0025:Eps15l1
|
UTSW |
8 |
73,135,341 (GRCm39) |
splice site |
probably benign |
|
|
R0030:Eps15l1
|
UTSW |
8 |
73,126,894 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0030:Eps15l1
|
UTSW |
8 |
73,126,894 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0799:Eps15l1
|
UTSW |
8 |
73,099,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1300:Eps15l1
|
UTSW |
8 |
73,145,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2131:Eps15l1
|
UTSW |
8 |
73,140,712 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2132:Eps15l1
|
UTSW |
8 |
73,140,712 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2133:Eps15l1
|
UTSW |
8 |
73,140,712 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3693:Eps15l1
|
UTSW |
8 |
73,152,904 (GRCm39) |
splice site |
probably benign |
|
|
R4072:Eps15l1
|
UTSW |
8 |
73,134,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4074:Eps15l1
|
UTSW |
8 |
73,134,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4076:Eps15l1
|
UTSW |
8 |
73,134,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4485:Eps15l1
|
UTSW |
8 |
73,153,531 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4592:Eps15l1
|
UTSW |
8 |
73,095,238 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4606:Eps15l1
|
UTSW |
8 |
73,127,760 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4981:Eps15l1
|
UTSW |
8 |
73,132,833 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5496:Eps15l1
|
UTSW |
8 |
73,136,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5502:Eps15l1
|
UTSW |
8 |
73,132,836 (GRCm39) |
splice site |
probably null |
|
|
R5682:Eps15l1
|
UTSW |
8 |
73,125,592 (GRCm39) |
nonsense |
probably null |
|
|
R6326:Eps15l1
|
UTSW |
8 |
73,095,278 (GRCm39) |
nonsense |
probably null |
|
|
R6384:Eps15l1
|
UTSW |
8 |
73,122,554 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7305:Eps15l1
|
UTSW |
8 |
73,126,878 (GRCm39) |
missense |
probably benign |
|
|
R7500:Eps15l1
|
UTSW |
8 |
73,136,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7732:Eps15l1
|
UTSW |
8 |
73,134,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8980:Eps15l1
|
UTSW |
8 |
73,127,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9065:Eps15l1
|
UTSW |
8 |
73,145,762 (GRCm39) |
nonsense |
probably null |
|
|
R9238:Eps15l1
|
UTSW |
8 |
73,095,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Eps15l1
|
UTSW |
8 |
73,140,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Eps15l1
|
UTSW |
8 |
73,135,281 (GRCm39) |
missense |
probably benign |
0.37 |
|
Z1177:Eps15l1
|
UTSW |
8 |
73,126,922 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation