Incidental Mutation 'R2042:Eps15'
| ID |
225036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps15
|
| Ensembl Gene |
ENSMUSG00000028552 |
| Gene Name |
epidermal growth factor receptor pathway substrate 15 |
| Synonyms |
2410112D09Rik |
| MMRRC Submission |
040049-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2042 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 109161964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 31
(T31I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102729]
[ENSMUST00000132165]
[ENSMUST00000175776]
[ENSMUST00000176251]
[ENSMUST00000177089]
|
| AlphaFold |
P42567 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102729
AA Change: T31I
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: T31I
| 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: T31I
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
AA Change: T31I
| 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 |
possibly damaging
Transcript: ENSMUST00000175776
AA Change: T31I
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: T31I
| 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: T31I
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552
AA Change: T31I
| 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 |
possibly damaging
Transcript: ENSMUST00000177089
AA Change: T31I
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134922
Gene: ENSMUSG00000028552
AA Change: T31I
| 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 |
0.1196 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (67/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
A |
3: 124,210,377 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
G |
A |
7: 120,143,941 (GRCm39) |
R1653Q |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,749,439 (GRCm39) |
Y176F |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,853,904 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
C |
9: 95,752,075 (GRCm39) |
L564S |
probably benign |
Het |
| Birc6 |
C |
G |
17: 74,916,654 (GRCm39) |
A1774G |
probably damaging |
Het |
| Cacng1 |
C |
T |
11: 107,595,134 (GRCm39) |
A148T |
probably damaging |
Het |
| Cd53 |
T |
A |
3: 106,674,740 (GRCm39) |
|
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,309,811 (GRCm39) |
F1596S |
probably damaging |
Het |
| Cep120 |
A |
T |
18: 53,868,814 (GRCm39) |
F122I |
possibly damaging |
Het |
| Ckm |
A |
T |
7: 19,148,082 (GRCm39) |
H7L |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,814,844 (GRCm39) |
V1575A |
possibly damaging |
Het |
| Cspp1 |
A |
G |
1: 10,182,763 (GRCm39) |
E712G |
probably damaging |
Het |
| Cyp2b23 |
C |
A |
7: 26,365,533 (GRCm39) |
R434L |
probably damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,057,769 (GRCm39) |
S570T |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,708,089 (GRCm39) |
I1444V |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,854,632 (GRCm39) |
V98A |
probably benign |
Het |
| Dtx1 |
T |
G |
5: 120,832,541 (GRCm39) |
N299T |
probably benign |
Het |
| Efr3b |
T |
A |
12: 4,034,627 (GRCm39) |
D65V |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,755,607 (GRCm39) |
C323R |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,298,443 (GRCm39) |
I184V |
probably benign |
Het |
| Fbxl8 |
A |
T |
8: 105,994,856 (GRCm39) |
I123F |
probably damaging |
Het |
| Fbxw26 |
T |
G |
9: 109,561,772 (GRCm39) |
T141P |
probably damaging |
Het |
| Fhip1b |
G |
T |
7: 105,033,328 (GRCm39) |
Y629* |
probably null |
Het |
| Glra3 |
G |
A |
8: 56,515,494 (GRCm39) |
D190N |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,295,677 (GRCm39) |
L4229P |
probably damaging |
Het |
| Ipmk |
C |
T |
10: 71,199,333 (GRCm39) |
R65W |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,057,580 (GRCm39) |
I284T |
probably damaging |
Het |
| Klhl22 |
T |
C |
16: 17,610,284 (GRCm39) |
|
probably benign |
Het |
| Lmcd1 |
T |
A |
6: 112,292,851 (GRCm39) |
D234E |
probably benign |
Het |
| Lrrc14b |
T |
C |
13: 74,511,561 (GRCm39) |
K173R |
probably benign |
Het |
| Magi1 |
A |
T |
6: 93,732,026 (GRCm39) |
N209K |
probably benign |
Het |
| Mak |
A |
C |
13: 41,202,912 (GRCm39) |
S179A |
possibly damaging |
Het |
| Map3k4 |
C |
A |
17: 12,496,870 (GRCm39) |
R87L |
probably damaging |
Het |
| Map4k1 |
T |
C |
7: 28,683,555 (GRCm39) |
L53P |
probably damaging |
Het |
| Melk |
T |
C |
4: 44,309,051 (GRCm39) |
|
probably null |
Het |
| Mks1 |
C |
T |
11: 87,747,494 (GRCm39) |
|
probably benign |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| N4bp2 |
C |
T |
5: 65,983,964 (GRCm39) |
P1670S |
probably damaging |
Het |
| Ncf1 |
C |
G |
5: 134,255,494 (GRCm39) |
Q132H |
probably benign |
Het |
| Nemp1 |
T |
C |
10: 127,532,203 (GRCm39) |
S370P |
possibly damaging |
Het |
| Nt5c3b |
T |
C |
11: 100,327,020 (GRCm39) |
H92R |
probably benign |
Het |
| Or12j2 |
T |
C |
7: 139,915,850 (GRCm39) |
L25P |
probably damaging |
Het |
| Or4p19 |
G |
A |
2: 88,242,546 (GRCm39) |
A152V |
possibly damaging |
Het |
| P4ha3 |
T |
C |
7: 99,949,897 (GRCm39) |
|
probably null |
Het |
| Pcnx1 |
C |
A |
12: 81,965,067 (GRCm39) |
H411Q |
probably damaging |
Het |
| Podxl |
A |
G |
6: 31,500,051 (GRCm39) |
V473A |
possibly damaging |
Het |
| Prkd2 |
T |
C |
7: 16,590,193 (GRCm39) |
S530P |
possibly damaging |
Het |
| Scin |
A |
G |
12: 40,127,509 (GRCm39) |
I427T |
possibly damaging |
Het |
| Sgo2b |
T |
C |
8: 64,381,561 (GRCm39) |
T424A |
probably benign |
Het |
| Slc22a2 |
T |
C |
17: 12,818,012 (GRCm39) |
I196T |
probably benign |
Het |
| Slc47a2 |
C |
A |
11: 61,228,908 (GRCm39) |
V90L |
probably benign |
Het |
| Slc4a7 |
G |
A |
14: 14,737,386 (GRCm38) |
V99M |
probably damaging |
Het |
| Spata31f3 |
C |
T |
4: 42,874,030 (GRCm39) |
C46Y |
possibly damaging |
Het |
| Sprr2k |
T |
C |
3: 92,340,763 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,039,213 (GRCm39) |
M1185I |
probably benign |
Het |
| Tent5b |
T |
C |
4: 133,213,924 (GRCm39) |
V265A |
possibly damaging |
Het |
| Uaca |
T |
C |
9: 60,777,173 (GRCm39) |
V518A |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,808,118 (GRCm39) |
Q1200* |
probably null |
Het |
| Ufm1 |
A |
G |
3: 53,766,702 (GRCm39) |
|
probably benign |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp142 |
G |
A |
1: 74,609,778 (GRCm39) |
T1236I |
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,651,234 (GRCm39) |
Y845H |
probably damaging |
Het |
| Zfp747l1 |
A |
T |
7: 126,984,641 (GRCm39) |
C154S |
possibly damaging |
Het |
| Zfp787 |
T |
C |
7: 6,135,763 (GRCm39) |
K163E |
possibly 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 |
|
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'- AATTGACTCCTGTCTAGATGGCAC -3'
(R):5'- ACACCCCATCCTATTACTTGAACTG -3'
Sequencing Primer
(F):5'- GATGGCACCATTCTTTTAAGACTCTG -3'
(R):5'- ACTTGAACTGCTTCTATAACTCAGTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation