Incidental Mutation 'R1581:Eps15'
| ID |
171386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps15
|
| Ensembl Gene |
ENSMUSG00000028552 |
| Gene Name |
epidermal growth factor receptor pathway substrate 15 |
| Synonyms |
2410112D09Rik |
| MMRRC Submission |
039618-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1581 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 109220383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 180
(M180K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030281]
[ENSMUST00000102729]
[ENSMUST00000132165]
[ENSMUST00000175776]
[ENSMUST00000176251]
|
| AlphaFold |
P42567 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030281
AA Change: M180K
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000030281
Gene: ENSMUSG00000028552
AA Change: M180K
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1bg1a1
|
37 |
178 |
8e-8 |
SMART |
|
low complexity region
|
191 |
202 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
308 |
341 |
5.7e-7 |
PROSPERO |
|
low complexity region
|
348 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
478 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
485 |
517 |
5.7e-7 |
PROSPERO |
|
UIM
|
538 |
557 |
3.32e0 |
SMART |
|
UIM
|
564 |
583 |
1.55e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102729
AA Change: M494K
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: M494K
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
8 |
103 |
7.03e-29 |
SMART |
|
EFh
|
52 |
80 |
4.74e-3 |
SMART |
|
EH
|
121 |
215 |
2.91e-53 |
SMART |
|
EFh
|
164 |
192 |
4.67e-2 |
SMART |
|
EH
|
217 |
313 |
1.16e-47 |
SMART |
|
EFh
|
227 |
255 |
1.2e1 |
SMART |
|
EFh
|
261 |
289 |
6.82e1 |
SMART |
|
coiled coil region
|
329 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
516 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
622 |
655 |
1.25e-5 |
PROSPERO |
|
low complexity region
|
662 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
774 |
792 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
799 |
831 |
1.25e-5 |
PROSPERO |
|
UIM
|
852 |
871 |
3.32e0 |
SMART |
|
UIM
|
878 |
897 |
1.55e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126015
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132165
|
| SMART Domains |
Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
8 |
103 |
7.03e-29 |
SMART |
|
EFh
|
52 |
80 |
4.74e-3 |
SMART |
|
EH
|
121 |
215 |
2.91e-53 |
SMART |
|
EFh
|
164 |
192 |
4.67e-2 |
SMART |
|
EH
|
217 |
313 |
1.16e-47 |
SMART |
|
EFh
|
227 |
255 |
1.2e1 |
SMART |
|
EFh
|
261 |
289 |
6.82e1 |
SMART |
|
coiled coil region
|
329 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
552 |
N/A |
INTRINSIC |
|
low complexity region
|
611 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
659 |
N/A |
INTRINSIC |
|
UIM
|
719 |
738 |
3.32e0 |
SMART |
|
UIM
|
745 |
764 |
1.55e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175776
AA Change: M530K
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: M530K
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
8 |
103 |
7.03e-29 |
SMART |
|
EFh
|
52 |
80 |
4.74e-3 |
SMART |
|
EH
|
121 |
215 |
2.91e-53 |
SMART |
|
EFh
|
164 |
192 |
4.67e-2 |
SMART |
|
EH
|
253 |
349 |
4.38e-48 |
SMART |
|
EFh
|
263 |
291 |
1.2e1 |
SMART |
|
EFh
|
297 |
325 |
6.82e1 |
SMART |
|
coiled coil region
|
365 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
552 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
658 |
691 |
1.92e-5 |
PROSPERO |
|
low complexity region
|
698 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
790 |
N/A |
INTRINSIC |
|
low complexity region
|
810 |
828 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
835 |
867 |
1.92e-5 |
PROSPERO |
|
UIM
|
888 |
907 |
3.32e0 |
SMART |
|
UIM
|
914 |
933 |
1.55e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176251
AA Change: M494K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552
AA Change: M494K
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
8 |
103 |
7.03e-29 |
SMART |
|
EFh
|
52 |
80 |
4.74e-3 |
SMART |
|
EH
|
121 |
215 |
2.91e-53 |
SMART |
|
EFh
|
164 |
192 |
4.67e-2 |
SMART |
|
EH
|
217 |
313 |
1.16e-47 |
SMART |
|
EFh
|
227 |
255 |
1.2e1 |
SMART |
|
EFh
|
261 |
289 |
6.82e1 |
SMART |
|
coiled coil region
|
329 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
774 |
791 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygotes for a null allele show increased marginal zone B cell number with no changes in precursor cells, proliferation, apoptosis, migration or B cell responses. Homozygotes for a different null allele show decreased mean corpuscular hemoglobin (MCH), decreased MCH concentration, and dermatitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
T |
C |
15: 91,063,347 (GRCm39) |
E447G |
probably benign |
Het |
| Actn4 |
T |
C |
7: 28,598,071 (GRCm39) |
T510A |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,133,153 (GRCm39) |
M1311T |
possibly damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Bicdl1 |
G |
T |
5: 115,789,326 (GRCm39) |
|
probably benign |
Het |
| Bmyc |
T |
C |
2: 25,597,346 (GRCm39) |
S137P |
probably damaging |
Het |
| Camsap3 |
C |
T |
8: 3,654,708 (GRCm39) |
R782C |
probably damaging |
Het |
| Casc3 |
C |
T |
11: 98,713,644 (GRCm39) |
T292I |
possibly damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Cibar1 |
T |
A |
4: 12,155,745 (GRCm39) |
|
probably null |
Het |
| Cnnm2 |
A |
G |
19: 46,751,562 (GRCm39) |
T451A |
probably damaging |
Het |
| Eed |
T |
C |
7: 89,629,676 (GRCm39) |
K20E |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,947,905 (GRCm39) |
I486T |
probably damaging |
Het |
| Etnppl |
A |
G |
3: 130,422,393 (GRCm39) |
I207V |
possibly damaging |
Het |
| Fancg |
G |
A |
4: 43,007,039 (GRCm39) |
P246L |
probably damaging |
Het |
| Fcrl1 |
G |
A |
3: 87,293,030 (GRCm39) |
C249Y |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,839,961 (GRCm39) |
F110L |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,816,626 (GRCm39) |
N4120Y |
probably damaging |
Het |
| Gm4884 |
C |
T |
7: 40,693,255 (GRCm39) |
S408L |
probably benign |
Het |
| Gm9476 |
T |
C |
10: 100,142,474 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
T |
C |
11: 57,127,836 (GRCm39) |
|
probably null |
Het |
| H6pd |
T |
A |
4: 150,066,971 (GRCm39) |
I472F |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,137,092 (GRCm39) |
M632L |
probably benign |
Het |
| Hyou1 |
C |
T |
9: 44,300,167 (GRCm39) |
P819S |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,618,075 (GRCm39) |
E163G |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,722,278 (GRCm39) |
V27A |
possibly damaging |
Het |
| Kdelr3 |
T |
C |
15: 79,407,114 (GRCm39) |
|
probably null |
Het |
| Klk1b22 |
A |
G |
7: 43,765,399 (GRCm39) |
N117S |
possibly damaging |
Het |
| Klrh1 |
T |
C |
6: 129,752,796 (GRCm39) |
D3G |
probably benign |
Het |
| Lpp |
C |
A |
16: 24,500,591 (GRCm39) |
C134* |
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,347,843 (GRCm39) |
R2951* |
probably null |
Het |
| Luzp2 |
T |
A |
7: 54,899,238 (GRCm39) |
D285E |
possibly damaging |
Het |
| Ly75 |
C |
T |
2: 60,158,237 (GRCm39) |
R1016H |
probably damaging |
Het |
| Mesp2 |
T |
A |
7: 79,462,289 (GRCm39) |
S282T |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,659,289 (GRCm39) |
D776G |
probably damaging |
Het |
| Nr2e1 |
T |
C |
10: 42,443,964 (GRCm39) |
T253A |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,347 (GRCm39) |
L29H |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,463,147 (GRCm39) |
Y146C |
probably damaging |
Het |
| Pank4 |
C |
T |
4: 155,059,108 (GRCm39) |
R414W |
probably damaging |
Het |
| Pclo |
T |
G |
5: 14,571,296 (GRCm39) |
I227S |
probably benign |
Het |
| Plppr4 |
A |
G |
3: 117,121,915 (GRCm39) |
V221A |
possibly damaging |
Het |
| Pradc1 |
G |
A |
6: 85,425,568 (GRCm39) |
R25C |
probably damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rnd2 |
A |
G |
11: 101,362,022 (GRCm39) |
T192A |
probably benign |
Het |
| Rtbdn |
A |
G |
8: 85,681,695 (GRCm39) |
E131G |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,809,449 (GRCm39) |
V792A |
probably benign |
Het |
| Sacs |
G |
T |
14: 61,451,128 (GRCm39) |
Q4391H |
probably damaging |
Het |
| Scd2 |
A |
G |
19: 44,286,538 (GRCm39) |
S123G |
probably benign |
Het |
| Septin9 |
A |
G |
11: 117,181,421 (GRCm39) |
R74G |
probably damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,218,356 (GRCm39) |
Q327L |
probably damaging |
Het |
| Skor1 |
T |
C |
9: 63,053,505 (GRCm39) |
T127A |
probably damaging |
Het |
| Sphk2 |
A |
G |
7: 45,362,920 (GRCm39) |
V57A |
probably damaging |
Het |
| Tfec |
A |
T |
6: 16,844,243 (GRCm39) |
D101E |
probably damaging |
Het |
| Tmem43 |
T |
A |
6: 91,455,717 (GRCm39) |
H109Q |
probably benign |
Het |
| Tmem67 |
C |
A |
4: 12,047,814 (GRCm39) |
S839I |
probably damaging |
Het |
| Trpv5 |
T |
C |
6: 41,630,074 (GRCm39) |
Y672C |
probably damaging |
Het |
| Ttc39d |
A |
C |
17: 80,523,913 (GRCm39) |
S191R |
probably benign |
Het |
| Ttll1 |
C |
T |
15: 83,380,478 (GRCm39) |
V296M |
probably damaging |
Het |
| Upp2 |
A |
C |
2: 58,664,177 (GRCm39) |
K130T |
possibly damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,640 (GRCm39) |
C780R |
probably damaging |
Het |
| Wars1 |
C |
A |
12: 108,841,635 (GRCm39) |
E171* |
probably null |
Het |
| Zeb2 |
A |
T |
2: 44,887,012 (GRCm39) |
S637T |
probably damaging |
Het |
| Zfp27 |
T |
A |
7: 29,595,549 (GRCm39) |
T139S |
possibly damaging |
Het |
| Zfp941 |
A |
T |
7: 140,392,033 (GRCm39) |
L442Q |
probably benign |
Het |
|
| Other mutations in Eps15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Eps15
|
APN |
4 |
109,166,346 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01372:Eps15
|
APN |
4 |
109,179,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01642:Eps15
|
APN |
4 |
109,223,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02207:Eps15
|
APN |
4 |
109,161,945 (GRCm39) |
splice site |
probably benign |
|
|
IGL02394:Eps15
|
APN |
4 |
109,170,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02755:Eps15
|
APN |
4 |
109,186,895 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0117:Eps15
|
UTSW |
4 |
109,240,016 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0414:Eps15
|
UTSW |
4 |
109,223,677 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0928:Eps15
|
UTSW |
4 |
109,170,160 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1545:Eps15
|
UTSW |
4 |
109,169,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1627:Eps15
|
UTSW |
4 |
109,227,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Eps15
|
UTSW |
4 |
109,170,115 (GRCm39) |
nonsense |
probably null |
|
|
R1799:Eps15
|
UTSW |
4 |
109,240,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1906:Eps15
|
UTSW |
4 |
109,181,398 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1916:Eps15
|
UTSW |
4 |
109,226,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Eps15
|
UTSW |
4 |
109,161,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2046:Eps15
|
UTSW |
4 |
109,227,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Eps15
|
UTSW |
4 |
109,227,866 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2213:Eps15
|
UTSW |
4 |
109,218,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2362:Eps15
|
UTSW |
4 |
109,218,427 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3151:Eps15
|
UTSW |
4 |
109,223,419 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3712:Eps15
|
UTSW |
4 |
109,166,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3727:Eps15
|
UTSW |
4 |
109,227,882 (GRCm39) |
splice site |
probably benign |
|
|
R4361:Eps15
|
UTSW |
4 |
109,237,228 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4381:Eps15
|
UTSW |
4 |
109,223,727 (GRCm39) |
unclassified |
probably benign |
|
|
R4466:Eps15
|
UTSW |
4 |
109,223,727 (GRCm39) |
unclassified |
probably benign |
|
|
R4740:Eps15
|
UTSW |
4 |
109,200,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Eps15
|
UTSW |
4 |
109,223,727 (GRCm39) |
unclassified |
probably benign |
|
|
R4799:Eps15
|
UTSW |
4 |
109,223,727 (GRCm39) |
unclassified |
probably benign |
|
|
R4801:Eps15
|
UTSW |
4 |
109,181,414 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4802:Eps15
|
UTSW |
4 |
109,181,414 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4864:Eps15
|
UTSW |
4 |
109,223,727 (GRCm39) |
unclassified |
probably benign |
|
|
R4954:Eps15
|
UTSW |
4 |
109,227,875 (GRCm39) |
splice site |
probably null |
|
|
R5134:Eps15
|
UTSW |
4 |
109,223,727 (GRCm39) |
unclassified |
probably benign |
|
|
R5386:Eps15
|
UTSW |
4 |
109,178,422 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5768:Eps15
|
UTSW |
4 |
109,220,373 (GRCm39) |
splice site |
probably null |
|
|
R5870:Eps15
|
UTSW |
4 |
109,218,507 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6245:Eps15
|
UTSW |
4 |
109,240,063 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6290:Eps15
|
UTSW |
4 |
109,220,395 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6291:Eps15
|
UTSW |
4 |
109,162,900 (GRCm39) |
frame shift |
probably null |
|
|
R6493:Eps15
|
UTSW |
4 |
109,226,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Eps15
|
UTSW |
4 |
109,137,599 (GRCm39) |
splice site |
probably null |
|
|
R6885:Eps15
|
UTSW |
4 |
109,166,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6913:Eps15
|
UTSW |
4 |
109,218,427 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7362:Eps15
|
UTSW |
4 |
109,223,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7461:Eps15
|
UTSW |
4 |
109,186,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7613:Eps15
|
UTSW |
4 |
109,186,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7923:Eps15
|
UTSW |
4 |
109,173,069 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7966:Eps15
|
UTSW |
4 |
109,178,340 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8792:Eps15
|
UTSW |
4 |
109,162,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8826:Eps15
|
UTSW |
4 |
109,169,505 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9296:Eps15
|
UTSW |
4 |
109,173,089 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9369:Eps15
|
UTSW |
4 |
109,240,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Eps15
|
UTSW |
4 |
109,179,270 (GRCm39) |
missense |
probably benign |
0.04 |
|
X0023:Eps15
|
UTSW |
4 |
109,200,554 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- cacagcagtaataactctaaGACACTGAACAA -3'
(R):5'- ggtctctgcacataAGTCTGTACACACTAA -3'
Sequencing Primer
(F):5'- taactctaaGACACTGAACAACTTAC -3'
(R):5'- acataAGTCTGTACACACTAACTTTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation