Incidental Mutation 'R9238:Eps15l1'
| ID |
700592 |
| 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 |
068987-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R9238 (G1)
|
| Quality Score |
188.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
73094843-73175304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73095274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 892
(E892G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163643]
[ENSMUST00000212121]
|
| AlphaFold |
Q60902 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163643
AA Change: E892G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129739
Gene: ENSMUSG00000006276
AA Change: E892G
| 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
AA Change: E748G
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg2 |
C |
A |
5: 137,653,622 (GRCm39) |
V365F |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,089,441 (GRCm38) |
N319I |
probably damaging |
Het |
| AY074887 |
C |
T |
9: 54,858,087 (GRCm39) |
V13M |
unknown |
Het |
| Boc |
T |
C |
16: 44,311,021 (GRCm39) |
T738A |
|
Het |
| C2cd5 |
A |
G |
6: 143,027,127 (GRCm39) |
V126A |
possibly damaging |
Het |
| Cdk9 |
A |
T |
2: 32,598,273 (GRCm39) |
L261Q |
possibly damaging |
Het |
| Chi3l1 |
T |
C |
1: 134,115,685 (GRCm39) |
L231P |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,399,027 (GRCm39) |
C604S |
probably null |
Het |
| Dop1a |
T |
C |
9: 86,415,027 (GRCm39) |
V1923A |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,546,018 (GRCm39) |
S230P |
probably benign |
Het |
| Fasn |
T |
C |
11: 120,705,871 (GRCm39) |
T1133A |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,832,220 (GRCm39) |
I1518F |
possibly damaging |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,813,508 (GRCm39) |
C2580S |
probably damaging |
Het |
| Ino80b |
T |
A |
6: 83,102,314 (GRCm39) |
|
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,009,889 (GRCm39) |
R1274G |
probably damaging |
Het |
| Lcn12 |
A |
G |
2: 25,382,273 (GRCm39) |
I144T |
possibly damaging |
Het |
| Lrrc37 |
G |
T |
11: 103,509,859 (GRCm39) |
P703Q |
unknown |
Het |
| Mroh5 |
T |
C |
15: 73,663,586 (GRCm39) |
N158S |
probably benign |
Het |
| Mtpap |
G |
T |
18: 4,396,439 (GRCm39) |
G577V |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,325,177 (GRCm39) |
V967A |
possibly damaging |
Het |
| Ndufa11 |
T |
C |
17: 57,028,112 (GRCm39) |
Y61H |
probably benign |
Het |
| Nr2c2 |
T |
A |
6: 92,144,530 (GRCm39) |
N602K |
probably damaging |
Het |
| Nubp1 |
C |
A |
16: 10,231,604 (GRCm39) |
T85K |
probably benign |
Het |
| Oosp3 |
A |
G |
19: 11,676,753 (GRCm39) |
I37M |
probably damaging |
Het |
| Optn |
A |
G |
2: 5,057,951 (GRCm39) |
S73P |
probably damaging |
Het |
| Or10j3 |
T |
C |
1: 173,031,352 (GRCm39) |
I143T |
probably benign |
Het |
| Or2y15 |
A |
G |
11: 49,350,529 (GRCm39) |
T8A |
probably benign |
Het |
| Osmr |
T |
G |
15: 6,846,086 (GRCm39) |
I779L |
possibly damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,190 (GRCm39) |
D370G |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,550,570 (GRCm39) |
S571P |
probably benign |
Het |
| Pgbd5 |
A |
G |
8: 125,106,930 (GRCm39) |
I204T |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,604,799 (GRCm39) |
I1172T |
possibly damaging |
Het |
| Plch1 |
T |
A |
3: 63,606,412 (GRCm39) |
H1164L |
possibly damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Rab38 |
T |
A |
7: 88,099,954 (GRCm39) |
F156L |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,561,017 (GRCm39) |
E274G |
possibly damaging |
Het |
| Serpinb9 |
A |
G |
13: 33,199,479 (GRCm39) |
D258G |
probably benign |
Het |
| Slc26a11 |
T |
C |
11: 119,265,733 (GRCm39) |
|
probably null |
Het |
| Slco1a7 |
G |
T |
6: 141,686,153 (GRCm39) |
T229K |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,528,447 (GRCm39) |
T1568N |
probably damaging |
Het |
| Ston2 |
T |
C |
12: 91,615,461 (GRCm39) |
T316A |
probably benign |
Het |
| Tacc1 |
A |
T |
8: 25,672,634 (GRCm39) |
M198K |
probably benign |
Het |
| Tspan33 |
T |
C |
6: 29,710,652 (GRCm39) |
F76S |
probably damaging |
Het |
| Tspyl5 |
T |
C |
15: 33,687,082 (GRCm39) |
I288V |
possibly damaging |
Het |
| Vmn2r50 |
G |
A |
7: 9,781,503 (GRCm39) |
S414F |
probably benign |
Het |
| Zfp141 |
G |
A |
7: 42,125,111 (GRCm39) |
R454* |
probably null |
Het |
| Zscan22 |
T |
A |
7: 12,641,075 (GRCm39) |
C440S |
probably damaging |
Het |
| Zscan4-ps2 |
A |
T |
7: 11,251,339 (GRCm39) |
Q153L |
probably damaging |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTATAGCTGCCTTCCTGG -3'
(R):5'- CTTCTTCCATGGGGTGAAGTC -3'
Sequencing Primer
(F):5'- ACAGGGGTGAGCAGTGTCTG -3'
(R):5'- CATGGGGTGAAGTCAGGCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation