Incidental Mutation 'R6493:Eps15'
| ID |
522826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps15
|
| Ensembl Gene |
ENSMUSG00000028552 |
| Gene Name |
epidermal growth factor receptor pathway substrate 15 |
| Synonyms |
2410112D09Rik |
| MMRRC Submission |
044625-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6493 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109226145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 629
(D629G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030281]
[ENSMUST00000102729]
[ENSMUST00000132165]
[ENSMUST00000175776]
[ENSMUST00000176251]
|
| AlphaFold |
P42567 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030281
AA Change: D315G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030281
Gene: ENSMUSG00000028552
AA Change: D315G
| 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 damaging
Transcript: ENSMUST00000102729
AA Change: D629G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: D629G
| 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: ENSMUST00000122138
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126015
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132165
AA Change: D496G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
AA Change: D496G
| 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 damaging
Transcript: ENSMUST00000175776
AA Change: D665G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: D665G
| 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 damaging
Transcript: ENSMUST00000176251
AA Change: D629G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552
AA Change: D629G
| 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
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.3%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,184,704 (GRCm39) |
H934L |
probably benign |
Het |
| Abcb1b |
G |
A |
5: 8,874,698 (GRCm39) |
D453N |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,395,018 (GRCm39) |
|
probably null |
Het |
| Axdnd1 |
A |
T |
1: 156,208,383 (GRCm39) |
I485N |
probably damaging |
Het |
| Bscl2 |
A |
G |
19: 8,817,138 (GRCm39) |
D22G |
probably damaging |
Het |
| Ccdc96 |
A |
G |
5: 36,643,596 (GRCm39) |
E534G |
probably damaging |
Het |
| Cdc42bpg |
G |
T |
19: 6,368,485 (GRCm39) |
G1061V |
probably damaging |
Het |
| Cers3 |
T |
C |
7: 66,393,468 (GRCm39) |
Y26H |
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Clca4a |
T |
A |
3: 144,663,059 (GRCm39) |
T597S |
probably benign |
Het |
| Daxx |
T |
A |
17: 34,131,345 (GRCm39) |
|
probably null |
Het |
| Egf |
T |
C |
3: 129,512,737 (GRCm39) |
|
probably benign |
Het |
| Fancm |
G |
A |
12: 65,144,262 (GRCm39) |
A575T |
probably benign |
Het |
| Fat4 |
G |
A |
3: 38,945,036 (GRCm39) |
D1310N |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Grxcr2 |
G |
A |
18: 42,131,766 (GRCm39) |
P101L |
possibly damaging |
Het |
| Hsd17b12 |
A |
T |
2: 93,874,228 (GRCm39) |
I225N |
probably damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,511,773 (GRCm39) |
Y278C |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,615,205 (GRCm39) |
|
probably null |
Het |
| Lax1 |
C |
T |
1: 133,607,530 (GRCm39) |
D404N |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,081,095 (GRCm39) |
K329E |
probably damaging |
Het |
| Lysmd2 |
T |
G |
9: 75,542,984 (GRCm39) |
L197R |
probably damaging |
Het |
| Maneal |
A |
T |
4: 124,750,964 (GRCm39) |
I264N |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,149,455 (GRCm39) |
N1729S |
probably benign |
Het |
| Myl2 |
A |
G |
5: 122,244,791 (GRCm39) |
N154D |
possibly damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,081,812 (GRCm39) |
D638V |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,362,110 (GRCm39) |
H74R |
unknown |
Het |
| Olfml3 |
A |
T |
3: 103,643,523 (GRCm39) |
V286D |
possibly damaging |
Het |
| Or14c46 |
T |
G |
7: 85,918,090 (GRCm39) |
K302N |
probably benign |
Het |
| Or4b12 |
G |
A |
2: 90,096,052 (GRCm39) |
H241Y |
probably damaging |
Het |
| Or51a25 |
G |
T |
7: 102,373,287 (GRCm39) |
R137S |
possibly damaging |
Het |
| Or51f23c-ps1 |
A |
G |
7: 102,431,603 (GRCm39) |
K307E |
probably benign |
Het |
| Or8k41 |
T |
C |
2: 86,313,565 (GRCm39) |
I174V |
possibly damaging |
Het |
| Parn |
A |
C |
16: 13,474,789 (GRCm39) |
F127V |
probably damaging |
Het |
| Pcdhac2 |
T |
C |
18: 37,277,758 (GRCm39) |
V246A |
probably damaging |
Het |
| Plin2 |
G |
A |
4: 86,580,224 (GRCm39) |
T90I |
possibly damaging |
Het |
| Podxl |
C |
T |
6: 31,501,981 (GRCm39) |
C326Y |
probably damaging |
Het |
| Pramel46 |
A |
G |
5: 95,418,684 (GRCm39) |
L104P |
probably damaging |
Het |
| Prl8a8 |
T |
A |
13: 27,691,335 (GRCm39) |
K223* |
probably null |
Het |
| Ptprh |
T |
G |
7: 4,583,989 (GRCm39) |
E201A |
possibly damaging |
Het |
| Rtn1 |
A |
C |
12: 72,355,103 (GRCm39) |
V281G |
probably damaging |
Het |
| Scaf8 |
T |
C |
17: 3,221,394 (GRCm39) |
S294P |
unknown |
Het |
| Shroom3 |
C |
A |
5: 93,089,420 (GRCm39) |
N723K |
probably benign |
Het |
| Spata22 |
T |
C |
11: 73,244,572 (GRCm39) |
*312R |
probably null |
Het |
| Stx7 |
T |
C |
10: 24,060,969 (GRCm39) |
|
probably null |
Het |
| Taar6 |
T |
C |
10: 23,861,021 (GRCm39) |
D175G |
probably benign |
Het |
| Tbccd1 |
A |
C |
16: 22,641,216 (GRCm39) |
L387R |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,146,792 (GRCm39) |
M525V |
probably benign |
Het |
| Tex10 |
A |
T |
4: 48,436,450 (GRCm39) |
I756N |
probably damaging |
Het |
| Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,572,341 (GRCm39) |
E24438G |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,384,002 (GRCm39) |
K1053R |
probably damaging |
Het |
| Wdpcp |
C |
T |
11: 21,661,631 (GRCm39) |
T301I |
possibly damaging |
Het |
| Zbtb1 |
C |
T |
12: 76,433,247 (GRCm39) |
T411I |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,804,129 (GRCm39) |
G2624R |
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 |
|
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 |
|
|
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 |
|
|
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'- TCCCCTGTAAACTCTTTCAATCAAA -3'
(R):5'- TCCTGTTTAACCCCAACACAGA -3'
Sequencing Primer
(F):5'- CTGTGGAGGACATTTCGATTCAAACC -3'
(R):5'- ACACACACACCCTTGGCTTTAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation