Incidental Mutation 'R8980:Eps15l1'
| ID |
683689 |
| 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 |
068813-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R8980 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
73094843-73175304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73127734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 614
(H614Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163643]
[ENSMUST00000212121]
[ENSMUST00000212590]
|
| AlphaFold |
Q60902 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163643
AA Change: H614Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000129739
Gene: ENSMUSG00000006276
AA Change: H614Q
| 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: H583Q
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212590
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
C |
16: 14,278,961 (GRCm39) |
M1090I |
probably damaging |
Het |
| Ak7 |
T |
A |
12: 105,747,158 (GRCm39) |
V675E |
probably benign |
Het |
| Ano10 |
T |
A |
9: 122,090,558 (GRCm39) |
I252L |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,865,563 (GRCm39) |
Y828C |
probably damaging |
Het |
| Aurkaip1 |
T |
G |
4: 155,916,873 (GRCm39) |
S40R |
probably damaging |
Het |
| Bcl2l11 |
T |
A |
2: 128,000,200 (GRCm39) |
I181N |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,173,625 (GRCm39) |
Y1621C |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,190,390 (GRCm39) |
N207K |
probably benign |
Het |
| Clock |
T |
C |
5: 76,402,286 (GRCm39) |
I125V |
probably benign |
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Gm29106 |
G |
A |
1: 118,127,114 (GRCm39) |
G269R |
possibly damaging |
Het |
| Hexb |
A |
G |
13: 97,330,689 (GRCm39) |
V108A |
probably damaging |
Het |
| Ibtk |
G |
T |
9: 85,614,783 (GRCm39) |
C185* |
probably null |
Het |
| Josd2 |
A |
G |
7: 44,117,702 (GRCm39) |
|
probably benign |
Het |
| Krt76 |
C |
T |
15: 101,800,990 (GRCm39) |
G102D |
unknown |
Het |
| Nrap |
T |
A |
19: 56,343,970 (GRCm39) |
S645C |
probably damaging |
Het |
| Or7g12 |
A |
G |
9: 18,899,423 (GRCm39) |
I46M |
probably damaging |
Het |
| Pramel38 |
T |
C |
5: 94,366,035 (GRCm39) |
L51P |
probably damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,360,470 (GRCm39) |
F46I |
probably benign |
Het |
| Prss16 |
C |
T |
13: 22,187,212 (GRCm39) |
V453I |
probably benign |
Het |
| Psd |
A |
G |
19: 46,310,657 (GRCm39) |
L464P |
possibly damaging |
Het |
| Ptprb |
T |
C |
10: 116,119,526 (GRCm39) |
L220P |
probably benign |
Het |
| Rab7 |
A |
T |
6: 87,977,502 (GRCm39) |
V180E |
probably benign |
Het |
| Rc3h1 |
A |
G |
1: 160,782,595 (GRCm39) |
I691M |
probably benign |
Het |
| Rnf150 |
A |
G |
8: 83,717,087 (GRCm39) |
N198S |
probably benign |
Het |
| Sema4g |
A |
T |
19: 44,981,583 (GRCm39) |
M100L |
probably benign |
Het |
| Slc25a21 |
A |
G |
12: 56,816,949 (GRCm39) |
S106P |
probably benign |
Het |
| Slc27a5 |
C |
A |
7: 12,725,090 (GRCm39) |
R452S |
probably benign |
Het |
| St8sia5 |
A |
G |
18: 77,333,761 (GRCm39) |
|
probably null |
Het |
| Themis3 |
A |
T |
17: 66,862,536 (GRCm39) |
I474N |
probably damaging |
Het |
| Uckl1 |
C |
A |
2: 181,216,157 (GRCm39) |
|
probably benign |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,144 (GRCm39) |
V244A |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,010,501 (GRCm39) |
Y580N |
|
Het |
| Zfp1006 |
G |
A |
8: 129,945,680 (GRCm39) |
P382S |
probably damaging |
Het |
| Zfp11 |
T |
A |
5: 129,737,843 (GRCm39) |
M1L |
probably benign |
Het |
| Zfp462 |
TACCACCACCACCACCACCACCA |
TACCACCACCACCACCACCA |
4: 55,009,681 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfp827 |
T |
C |
8: 79,803,092 (GRCm39) |
S555P |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATCAACATCTAAAAGCTTCCCAGG -3'
(R):5'- AGCCAAAATCTCCACCTGGG -3'
Sequencing Primer
(F):5'- GGACTTAGGTTCAATTCCCAGCAG -3'
(R):5'- GGTGACTCCCCTTCAGATACTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation