Incidental Mutation 'R4466:Eps15'
ID |
330341 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eps15
|
Ensembl Gene |
ENSMUSG00000028552 |
Gene Name |
epidermal growth factor receptor pathway substrate 15 |
Synonyms |
2410112D09Rik |
MMRRC Submission |
041723-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4466 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 109223727 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030281]
[ENSMUST00000102729]
[ENSMUST00000132165]
[ENSMUST00000175776]
[ENSMUST00000176251]
|
AlphaFold |
P42567 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030281
|
SMART Domains |
Protein: ENSMUSP00000030281 Gene: ENSMUSG00000028552
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
|
SMART Domains |
Protein: ENSMUSP00000099790 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 |
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
|
SMART Domains |
Protein: ENSMUSP00000135270 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
|
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
|
SMART Domains |
Protein: ENSMUSP00000135034 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 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177140
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177192
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (55/56) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449A18Rik |
A |
T |
3: 59,745,887 (GRCm39) |
|
noncoding transcript |
Het |
Adgra1 |
T |
A |
7: 139,420,752 (GRCm39) |
|
probably benign |
Het |
Akap13 |
T |
A |
7: 75,252,521 (GRCm39) |
|
probably null |
Het |
Amn1 |
T |
C |
6: 149,068,343 (GRCm39) |
|
probably null |
Het |
Ano5 |
T |
A |
7: 51,220,023 (GRCm39) |
F374I |
probably damaging |
Het |
Apol7c |
T |
C |
15: 77,410,664 (GRCm39) |
E94G |
probably benign |
Het |
Arid4b |
A |
T |
13: 14,307,095 (GRCm39) |
S117C |
probably damaging |
Het |
Atm |
C |
A |
9: 53,359,469 (GRCm39) |
E2778* |
probably null |
Het |
Cped1 |
A |
T |
6: 22,123,651 (GRCm39) |
Q468L |
probably benign |
Het |
Crygb |
A |
G |
1: 65,119,645 (GRCm39) |
S112P |
probably damaging |
Het |
Eeig2 |
T |
A |
3: 108,887,124 (GRCm39) |
R291S |
probably benign |
Het |
Eml4 |
C |
T |
17: 83,729,103 (GRCm39) |
Q93* |
probably null |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fhad1 |
A |
T |
4: 141,684,969 (GRCm39) |
S457T |
probably damaging |
Het |
Frmd4b |
A |
G |
6: 97,300,614 (GRCm39) |
|
probably null |
Het |
Gm5134 |
G |
C |
10: 75,844,409 (GRCm39) |
K588N |
probably benign |
Het |
Gpr21 |
A |
G |
2: 37,407,570 (GRCm39) |
T39A |
probably benign |
Het |
Irx1 |
C |
A |
13: 72,108,101 (GRCm39) |
G194W |
probably damaging |
Het |
Itgal |
C |
T |
7: 126,927,684 (GRCm39) |
T992I |
possibly damaging |
Het |
Itpr3 |
T |
C |
17: 27,325,316 (GRCm39) |
L1303P |
probably damaging |
Het |
Kdm2a |
A |
T |
19: 4,370,328 (GRCm39) |
D1052E |
probably damaging |
Het |
Klhl6 |
T |
C |
16: 19,776,018 (GRCm39) |
D180G |
probably damaging |
Het |
M6pr |
A |
G |
6: 122,290,228 (GRCm39) |
T64A |
probably benign |
Het |
Mrpl47 |
G |
A |
3: 32,784,240 (GRCm39) |
R177* |
probably null |
Het |
Mtfr2 |
A |
G |
10: 20,224,159 (GRCm39) |
Y31C |
probably damaging |
Het |
Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
Oas2 |
A |
G |
5: 120,887,667 (GRCm39) |
S58P |
probably damaging |
Het |
Or1j11 |
A |
T |
2: 36,312,308 (GRCm39) |
R299S |
probably benign |
Het |
Or5b124 |
G |
A |
19: 13,610,801 (GRCm39) |
E109K |
probably damaging |
Het |
Or8b36 |
T |
A |
9: 37,937,479 (GRCm39) |
C126S |
probably damaging |
Het |
Polr1b |
A |
T |
2: 128,965,802 (GRCm39) |
I815L |
probably benign |
Het |
Psma8 |
T |
C |
18: 14,854,231 (GRCm39) |
I37T |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,483,447 (GRCm39) |
E4100G |
possibly damaging |
Het |
Serpina3g |
C |
T |
12: 104,204,182 (GRCm39) |
|
probably benign |
Het |
Serpina3m |
A |
T |
12: 104,357,874 (GRCm39) |
Y266F |
probably damaging |
Het |
Sez6l2 |
T |
A |
7: 126,559,023 (GRCm39) |
D423E |
probably damaging |
Het |
Sh3gl2 |
A |
G |
4: 85,299,688 (GRCm39) |
E224G |
possibly damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,353,146 (GRCm39) |
V105A |
possibly damaging |
Het |
Slc24a2 |
A |
T |
4: 87,146,099 (GRCm39) |
|
probably benign |
Het |
Smyd2 |
A |
G |
1: 189,614,349 (GRCm39) |
M393T |
probably benign |
Het |
Sox8 |
C |
A |
17: 25,787,879 (GRCm39) |
G190V |
probably benign |
Het |
Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
Stk35 |
C |
A |
2: 129,643,436 (GRCm39) |
T140K |
probably damaging |
Het |
Taf6 |
A |
C |
5: 138,179,463 (GRCm39) |
|
probably benign |
Het |
Ten1 |
A |
C |
11: 116,095,823 (GRCm39) |
|
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,544,044 (GRCm39) |
F32981L |
probably damaging |
Het |
Zik1 |
G |
T |
7: 10,224,893 (GRCm39) |
T68K |
probably benign |
Het |
Zzef1 |
T |
A |
11: 72,815,485 (GRCm39) |
I2935N |
probably damaging |
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 |
R1581:Eps15
|
UTSW |
4 |
109,220,383 (GRCm39) |
missense |
probably benign |
0.15 |
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 |
|
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'- AGGTCACTTGAAGTACTTCTCTAAACG -3'
(R):5'- GTGTGCAATCTCTATCACTGGC -3'
Sequencing Primer
(F):5'- CTTGAAGTACTTCTCTAAACGTTTGG -3'
(R):5'- GCCTTTACTCTGAAGAAACATTCTC -3'
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Posted On |
2015-07-21 |