Incidental Mutation 'R3693:Eps15l1'
| ID |
268859 |
| 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 |
040688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R3693 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
73094843-73175304 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 73152904 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 |
noncoding transcript
Transcript: ENSMUST00000211977
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212121
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212950
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010106E10Rik |
A |
T |
X: 111,466,012 (GRCm39) |
L187F |
probably damaging |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,757,904 (GRCm39) |
E1056G |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,874,229 (GRCm39) |
Y767C |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,655,443 (GRCm39) |
D122G |
probably damaging |
Het |
| Cherp |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
8: 73,221,755 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,309,080 (GRCm39) |
Q111L |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp11b2 |
C |
T |
15: 74,727,857 (GRCm39) |
R75Q |
probably benign |
Het |
| Dnaja2 |
T |
C |
8: 86,273,249 (GRCm39) |
K223E |
probably damaging |
Het |
| Dtx3 |
T |
C |
10: 127,027,293 (GRCm39) |
I294V |
probably benign |
Het |
| Exd2 |
A |
G |
12: 80,527,467 (GRCm39) |
Y220C |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,299,725 (GRCm39) |
Y343H |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,774,999 (GRCm39) |
E533G |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,177,685 (GRCm39) |
Y178F |
probably damaging |
Het |
| Mageb4 |
G |
T |
X: 85,296,000 (GRCm39) |
R10S |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,234,946 (GRCm39) |
|
probably benign |
Het |
| Myh11 |
C |
A |
16: 14,035,813 (GRCm39) |
E1038D |
probably benign |
Het |
| Nfxl1 |
T |
C |
5: 72,697,954 (GRCm39) |
Y297C |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,811,782 (GRCm39) |
K202E |
probably damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,893 (GRCm39) |
I257T |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Pcdha1 |
A |
T |
18: 37,065,361 (GRCm39) |
K675I |
possibly damaging |
Het |
| Pigw |
A |
G |
11: 84,769,209 (GRCm39) |
I40T |
probably benign |
Het |
| Pip5k1a |
A |
T |
3: 94,985,498 (GRCm39) |
|
probably benign |
Het |
| Ptprh |
G |
T |
7: 4,557,234 (GRCm39) |
Q687K |
probably damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
| Rft1 |
T |
A |
14: 30,412,408 (GRCm39) |
C490S |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,341,971 (GRCm39) |
T887S |
probably benign |
Het |
| Ripk2 |
A |
T |
4: 16,127,695 (GRCm39) |
L349Q |
probably benign |
Het |
| Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
| Tas2r143 |
G |
A |
6: 42,377,910 (GRCm39) |
V247I |
probably benign |
Het |
| Togaram1 |
A |
T |
12: 65,030,283 (GRCm39) |
Y1029F |
probably benign |
Het |
| Ugt1a6b |
A |
G |
1: 88,035,516 (GRCm39) |
T285A |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAGGCATGCCACTGAGTC -3'
(R):5'- AAATCACTACACCCTGGGGAG -3'
Sequencing Primer
(F):5'- GCCTAGGTGTACTTAAAGACCTGC -3'
(R):5'- ACTACACCCTGGGGAGCTAAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation