Incidental Mutation 'R3712:Eps15'
| ID |
259652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps15
|
| Ensembl Gene |
ENSMUSG00000028552 |
| Gene Name |
epidermal growth factor receptor pathway substrate 15 |
| Synonyms |
2410112D09Rik |
| MMRRC Submission |
040705-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3712 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109166374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 89
(V89A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102729]
[ENSMUST00000132165]
[ENSMUST00000175776]
[ENSMUST00000176251]
[ENSMUST00000177089]
|
| AlphaFold |
P42567 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102729
AA Change: V89A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: V89A
| 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 |
probably damaging
Transcript: ENSMUST00000132165
AA Change: V89A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
AA Change: V89A
| 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 |
noncoding transcript
Transcript: ENSMUST00000141751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150755
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175776
AA Change: V89A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: V89A
| 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 |
possibly damaging
Transcript: ENSMUST00000176251
AA Change: V89A
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552
AA Change: V89A
| 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 |
probably benign
Transcript: ENSMUST00000177089
|
| SMART Domains |
Protein: ENSMUSP00000134922
Gene: ENSMUSG00000028552
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qjta_
|
4 |
69 |
4e-5 |
SMART |
|
PDB:1QJT|A
|
15 |
72 |
9e-36 |
PDB |
|
Blast:EH
|
15 |
84 |
3e-39 |
BLAST |
|
| Meta Mutation Damage Score |
0.2242 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
C |
A |
16: 88,424,411 (GRCm39) |
V27F |
unknown |
Het |
| Akr1c20 |
T |
C |
13: 4,560,222 (GRCm39) |
E152G |
probably damaging |
Het |
| Alx4 |
G |
A |
2: 93,473,134 (GRCm39) |
G44D |
possibly damaging |
Het |
| Arhgap31 |
T |
A |
16: 38,422,895 (GRCm39) |
E1057V |
possibly damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,331,050 (GRCm39) |
D588V |
probably damaging |
Het |
| Bag2 |
T |
A |
1: 33,785,997 (GRCm39) |
E108D |
probably benign |
Het |
| Ccdc162 |
C |
T |
10: 41,463,375 (GRCm39) |
V183I |
probably benign |
Het |
| Ccdc83 |
A |
G |
7: 89,885,563 (GRCm39) |
|
probably benign |
Het |
| Ccnyl1 |
G |
A |
1: 64,753,827 (GRCm39) |
E137K |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,308,155 (GRCm39) |
T1849A |
probably benign |
Het |
| Cep192 |
C |
A |
18: 67,953,400 (GRCm39) |
D472E |
probably benign |
Het |
| Cep57l1 |
A |
G |
10: 41,619,110 (GRCm39) |
Y86H |
probably damaging |
Het |
| Cep95 |
G |
T |
11: 106,702,112 (GRCm39) |
E370* |
probably null |
Het |
| Cldn10 |
A |
G |
14: 119,092,522 (GRCm39) |
T41A |
probably damaging |
Het |
| Clptm1l |
T |
A |
13: 73,764,157 (GRCm39) |
Y426N |
probably benign |
Het |
| Dipk1b |
T |
C |
2: 26,522,650 (GRCm39) |
L33S |
possibly damaging |
Het |
| Fam53b |
A |
G |
7: 132,361,654 (GRCm39) |
S125P |
probably damaging |
Het |
| Fbxo44 |
A |
T |
4: 148,240,461 (GRCm39) |
W256R |
probably benign |
Het |
| Gnl2 |
T |
C |
4: 124,940,067 (GRCm39) |
V313A |
probably damaging |
Het |
| Hyal4 |
A |
G |
6: 24,756,513 (GRCm39) |
R244G |
probably damaging |
Het |
| Irf6 |
G |
T |
1: 192,844,931 (GRCm39) |
W134L |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,371,448 (GRCm39) |
T286A |
probably damaging |
Het |
| Lpcat2 |
T |
C |
8: 93,644,798 (GRCm39) |
V529A |
possibly damaging |
Het |
| Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
| Lrp8 |
G |
T |
4: 107,705,499 (GRCm39) |
R209L |
probably benign |
Het |
| Mgll |
T |
C |
6: 88,741,570 (GRCm39) |
|
probably benign |
Het |
| Mix23 |
T |
C |
16: 35,901,775 (GRCm39) |
|
probably null |
Het |
| Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
| Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
| Or3a1d |
A |
T |
11: 74,238,023 (GRCm39) |
I129N |
probably damaging |
Het |
| Or5p66 |
A |
T |
7: 107,885,663 (GRCm39) |
Y223* |
probably null |
Het |
| Or6c206 |
A |
T |
10: 129,097,093 (GRCm39) |
K88* |
probably null |
Het |
| Orc1 |
T |
C |
4: 108,461,218 (GRCm39) |
V526A |
probably damaging |
Het |
| Pard3b |
T |
C |
1: 62,383,137 (GRCm39) |
S744P |
probably damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,733,367 (GRCm39) |
Q155* |
probably null |
Het |
| Pcnx3 |
C |
G |
19: 5,733,368 (GRCm39) |
L1F |
probably null |
Het |
| Pdcd11 |
T |
A |
19: 47,115,684 (GRCm39) |
|
probably benign |
Het |
| Pi4k2a |
G |
A |
19: 42,079,131 (GRCm39) |
R64Q |
probably damaging |
Het |
| Pigt |
A |
G |
2: 164,343,565 (GRCm39) |
D347G |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
| Rpl7a-ps10 |
A |
G |
9: 97,061,926 (GRCm39) |
E232G |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,671,872 (GRCm39) |
L1177P |
probably damaging |
Het |
| Rrn3 |
T |
A |
16: 13,601,959 (GRCm39) |
L71* |
probably null |
Het |
| Sbspon |
A |
G |
1: 15,962,669 (GRCm39) |
C70R |
probably damaging |
Het |
| Smtn |
A |
T |
11: 3,482,865 (GRCm39) |
|
probably null |
Het |
| Son |
A |
G |
16: 91,453,614 (GRCm39) |
D787G |
probably damaging |
Het |
| Sphkap |
C |
T |
1: 83,254,833 (GRCm39) |
S972N |
probably benign |
Het |
| Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
| Srp14 |
A |
C |
2: 118,309,440 (GRCm39) |
L58V |
probably null |
Het |
| Sun2 |
A |
G |
15: 79,612,114 (GRCm39) |
S522P |
possibly damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Trdn |
T |
C |
10: 33,033,162 (GRCm39) |
I129T |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,169,780 (GRCm39) |
K117R |
probably benign |
Het |
| Ubqlnl |
A |
T |
7: 103,798,345 (GRCm39) |
I384N |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,637 (GRCm39) |
I41K |
probably damaging |
Het |
| Vmn2r125 |
T |
A |
4: 156,702,419 (GRCm39) |
Y68* |
probably null |
Het |
| Zpld1 |
A |
T |
16: 55,046,799 (GRCm39) |
L390* |
probably null |
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 |
|
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'- GCTGCTACATAATACTGTGGAATAATT -3'
(R):5'- CAGGTAGCTAAGTGATAGGGATTAAG -3'
Sequencing Primer
(F):5'- TGGGAAAAAAAGCTCCTAAC -3'
(R):5'- GGGGAATCCAGTCTCATCTGAATTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation