Incidental Mutation 'R0025:Eps15l1'
| ID |
15129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps15l1
|
| Ensembl Gene |
ENSMUSG00000006276 |
| Gene Name |
epidermal growth factor receptor pathway substrate 15-like 1 |
| Synonyms |
Eps15-rs, 9830147J04Rik, Eps15R |
| MMRRC Submission |
038320-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R0025 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
73094843-73175304 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 73135341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163643]
[ENSMUST00000212121]
[ENSMUST00000212590]
|
| AlphaFold |
Q60902 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163643
|
| SMART Domains |
Protein: ENSMUSP00000129739
Gene: ENSMUSG00000006276
| 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 benign
Transcript: ENSMUST00000212121
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212950
|
| Coding Region Coverage |
- 1x: 75.6%
- 3x: 62.5%
- 10x: 33.3%
- 20x: 15.9%
|
| Validation Efficiency |
95% (69/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
A |
T |
7: 119,257,538 (GRCm39) |
T435S |
probably damaging |
Het |
| Agtpbp1 |
G |
A |
13: 59,648,014 (GRCm39) |
T602I |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,749,154 (GRCm39) |
D231V |
probably damaging |
Het |
| Ampd3 |
G |
A |
7: 110,392,876 (GRCm39) |
D215N |
probably benign |
Het |
| Ate1 |
A |
G |
7: 130,105,523 (GRCm39) |
S332P |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 93,998,513 (GRCm39) |
E161G |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,692,628 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
T |
G |
8: 113,529,796 (GRCm39) |
L668R |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Csf1 |
A |
G |
3: 107,655,960 (GRCm39) |
V245A |
probably benign |
Het |
| Ctss |
A |
G |
3: 95,457,448 (GRCm39) |
Y302C |
probably damaging |
Het |
| Dbt |
C |
T |
3: 116,328,432 (GRCm39) |
H158Y |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,070,386 (GRCm39) |
I428V |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,860,781 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
G |
T |
9: 106,790,467 (GRCm39) |
Q1419K |
possibly damaging |
Het |
| Enpp6 |
A |
G |
8: 47,519,035 (GRCm39) |
K268E |
probably damaging |
Het |
| Gm10800 |
C |
A |
2: 98,496,925 (GRCm39) |
M209I |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,851,293 (GRCm39) |
P514L |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,263,287 (GRCm39) |
D160G |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,821,529 (GRCm39) |
|
probably null |
Het |
| Mink1 |
T |
C |
11: 70,503,868 (GRCm39) |
W1263R |
probably damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,780,465 (GRCm39) |
|
probably benign |
Het |
| Osbp |
T |
C |
19: 11,961,322 (GRCm39) |
Y454H |
probably damaging |
Het |
| Pak5 |
T |
C |
2: 135,942,704 (GRCm39) |
K479E |
possibly damaging |
Het |
| Pard3 |
C |
A |
8: 127,888,058 (GRCm39) |
D73E |
probably damaging |
Het |
| Pmp22 |
A |
T |
11: 63,049,076 (GRCm39) |
|
probably null |
Het |
| Scn4a |
C |
T |
11: 106,215,386 (GRCm39) |
V1197I |
probably benign |
Het |
| Slc36a2 |
A |
G |
11: 55,053,621 (GRCm39) |
L339P |
probably damaging |
Het |
| Smg1 |
G |
A |
7: 117,811,666 (GRCm39) |
T104I |
possibly damaging |
Het |
| Stx18 |
T |
A |
5: 38,249,908 (GRCm39) |
Y74N |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,638,492 (GRCm39) |
H1102Q |
probably damaging |
Het |
| Tom1l2 |
T |
C |
11: 60,120,960 (GRCm39) |
K450E |
probably damaging |
Het |
| Tpo |
T |
C |
12: 30,150,389 (GRCm39) |
Q497R |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,849,978 (GRCm39) |
|
probably benign |
Het |
| Tut7 |
A |
T |
13: 59,953,142 (GRCm39) |
D99E |
probably benign |
Het |
| Vit |
G |
A |
17: 78,907,264 (GRCm39) |
G229R |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,659,775 (GRCm39) |
I2658N |
probably benign |
Het |
| Wdr36 |
T |
A |
18: 32,992,360 (GRCm39) |
D632E |
probably damaging |
Het |
| Zfp654 |
A |
G |
16: 64,605,181 (GRCm39) |
V466A |
probably benign |
Het |
| Zfp941 |
T |
C |
7: 140,393,185 (GRCm39) |
D58G |
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 |
|
IGL02305:Eps15l1
|
APN |
8 |
73,140,853 (GRCm39) |
missense |
probably null |
1.00 |
|
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 |
|
|
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 |
2012-12-12 |
Incidental Mutation