Incidental Mutation 'R5952:Epn1'
| ID |
470947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epn1
|
| Ensembl Gene |
ENSMUSG00000035203 |
| Gene Name |
epsin 1 |
| Synonyms |
Ibp1 |
| MMRRC Submission |
044142-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5952 (G1)
|
| Quality Score |
88 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
5083234-5101177 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5096911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 231
(R231H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045277]
[ENSMUST00000098845]
[ENSMUST00000146317]
[ENSMUST00000208634]
|
| AlphaFold |
Q80VP1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045277
AA Change: R231H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000043340
Gene: ENSMUSG00000035203
AA Change: R231H
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
18 |
144 |
5.84e-65 |
SMART |
|
low complexity region
|
157 |
174 |
N/A |
INTRINSIC |
|
UIM
|
183 |
202 |
2.94e-1 |
SMART |
|
UIM
|
208 |
227 |
4.15e-1 |
SMART |
|
UIM
|
233 |
252 |
5.48e-1 |
SMART |
|
low complexity region
|
279 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
566 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098845
AA Change: R231H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000096445
Gene: ENSMUSG00000035203
AA Change: R231H
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
18 |
144 |
5.84e-65 |
SMART |
|
low complexity region
|
157 |
174 |
N/A |
INTRINSIC |
|
UIM
|
183 |
202 |
2.94e-1 |
SMART |
|
UIM
|
208 |
227 |
4.15e-1 |
SMART |
|
UIM
|
233 |
252 |
5.48e-1 |
SMART |
|
low complexity region
|
279 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
566 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146317
|
| SMART Domains |
Protein: ENSMUSP00000116571
Gene: ENSMUSG00000035203
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ENTH
|
17 |
90 |
7.4e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155436
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208634
AA Change: R231H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.2410 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
91% (62/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the epsin protein family. The encoded protein binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Loss of function of this gene is associated with reduced tumor growth and progression in certain cancer types. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no gross abnormalities. Mice homozygous null for both Epn1 and Epn2 display defects in angiogenic vascular remodeling, impaired somitogenesis and extensive cell death in the nervous tissue, resulting in lethality during organogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
A |
T |
6: 86,086,728 (GRCm39) |
D296V |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,233,559 (GRCm39) |
E599G |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,822,293 (GRCm39) |
I1604F |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,109,980 (GRCm39) |
D107G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,019,770 (GRCm39) |
T2060A |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,666,978 (GRCm39) |
I209N |
probably benign |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,596,901 (GRCm39) |
V1979A |
probably damaging |
Het |
| Cyp4a12b |
C |
T |
4: 115,271,714 (GRCm39) |
R142* |
probably null |
Het |
| Ddx23 |
A |
T |
15: 98,556,121 (GRCm39) |
S66T |
unknown |
Het |
| Efcab2 |
A |
G |
1: 178,303,439 (GRCm39) |
K121R |
probably benign |
Het |
| Epb41l1 |
T |
A |
2: 156,345,708 (GRCm39) |
V237D |
probably damaging |
Het |
| Epb41l1 |
G |
T |
2: 156,366,903 (GRCm39) |
A579S |
probably benign |
Het |
| Fbrs |
T |
C |
7: 127,086,924 (GRCm39) |
S649P |
probably damaging |
Het |
| Fezf1 |
A |
G |
6: 23,247,427 (GRCm39) |
V216A |
probably benign |
Het |
| Gen1 |
A |
T |
12: 11,310,897 (GRCm39) |
S112T |
probably damaging |
Het |
| Glrx2 |
A |
G |
1: 143,620,872 (GRCm39) |
N84D |
probably benign |
Het |
| Gm1818 |
T |
G |
12: 48,602,719 (GRCm39) |
|
noncoding transcript |
Het |
| Hira |
C |
A |
16: 18,753,815 (GRCm39) |
T553K |
possibly damaging |
Het |
| Hnrnph3 |
A |
G |
10: 62,851,374 (GRCm39) |
|
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,330,204 (GRCm39) |
F97Y |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,674,554 (GRCm39) |
Q772R |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,014,670 (GRCm39) |
T610A |
probably benign |
Het |
| Map3k19 |
T |
C |
1: 127,750,477 (GRCm39) |
D958G |
probably benign |
Het |
| Map4k4 |
G |
A |
1: 40,039,082 (GRCm39) |
|
probably benign |
Het |
| Mocos |
T |
C |
18: 24,834,444 (GRCm39) |
V827A |
possibly damaging |
Het |
| Ms4a10 |
T |
A |
19: 10,941,486 (GRCm39) |
D161V |
probably damaging |
Het |
| Myh9 |
A |
G |
15: 77,657,532 (GRCm39) |
I1071T |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,370,246 (GRCm39) |
E1002G |
possibly damaging |
Het |
| Neurod6 |
G |
A |
6: 55,656,002 (GRCm39) |
H212Y |
probably damaging |
Het |
| Or2v1 |
A |
T |
11: 49,025,399 (GRCm39) |
I95F |
probably damaging |
Het |
| Or52z13 |
T |
A |
7: 103,247,174 (GRCm39) |
I217N |
probably damaging |
Het |
| Or5b12 |
T |
C |
19: 12,897,194 (GRCm39) |
N160D |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,133 (GRCm39) |
V641A |
probably benign |
Het |
| Ppp3ca |
A |
T |
3: 136,634,332 (GRCm39) |
M431L |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,461,671 (GRCm39) |
I69F |
probably damaging |
Het |
| Rab34 |
G |
T |
11: 78,081,094 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,406 (GRCm39) |
N619S |
probably benign |
Het |
| Rnf169 |
T |
C |
7: 99,574,840 (GRCm39) |
H585R |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,617,617 (GRCm39) |
V129A |
probably benign |
Het |
| Siglecf |
C |
T |
7: 43,005,351 (GRCm39) |
T437M |
probably benign |
Het |
| Slc25a2 |
T |
C |
18: 37,771,335 (GRCm39) |
N65D |
probably benign |
Het |
| Spire1 |
A |
G |
18: 67,639,779 (GRCm39) |
S245P |
probably benign |
Het |
| Sptb |
A |
T |
12: 76,679,158 (GRCm39) |
M99K |
probably benign |
Het |
| Tacc1 |
G |
T |
8: 25,672,011 (GRCm39) |
L406I |
possibly damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,476 (GRCm39) |
I102T |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,949,952 (GRCm39) |
|
probably null |
Het |
| Trbv11 |
A |
G |
6: 41,084,153 (GRCm39) |
|
noncoding transcript |
Het |
| Trmt11 |
A |
G |
10: 30,436,838 (GRCm39) |
Y301H |
probably benign |
Het |
| Tspo |
A |
G |
15: 83,456,441 (GRCm39) |
T75A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,710,569 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,462,030 (GRCm39) |
Q1210R |
probably damaging |
Het |
| Zhx3 |
A |
T |
2: 160,623,937 (GRCm39) |
Y77N |
probably damaging |
Het |
|
| Other mutations in Epn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02227:Epn1
|
APN |
7 |
5,098,035 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03126:Epn1
|
APN |
7 |
5,098,684 (GRCm39) |
missense |
probably benign |
0.01 |
|
epsilon
|
UTSW |
7 |
5,098,047 (GRCm39) |
missense |
probably benign |
|
|
R1074:Epn1
|
UTSW |
7 |
5,098,047 (GRCm39) |
missense |
probably benign |
|
|
R1365:Epn1
|
UTSW |
7 |
5,096,369 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1848:Epn1
|
UTSW |
7 |
5,092,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2041:Epn1
|
UTSW |
7 |
5,086,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2237:Epn1
|
UTSW |
7 |
5,100,601 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2238:Epn1
|
UTSW |
7 |
5,100,601 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2239:Epn1
|
UTSW |
7 |
5,100,601 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4255:Epn1
|
UTSW |
7 |
5,100,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4324:Epn1
|
UTSW |
7 |
5,100,210 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4542:Epn1
|
UTSW |
7 |
5,096,980 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4703:Epn1
|
UTSW |
7 |
5,098,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4740:Epn1
|
UTSW |
7 |
5,093,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4845:Epn1
|
UTSW |
7 |
5,096,908 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5838:Epn1
|
UTSW |
7 |
5,100,165 (GRCm39) |
nonsense |
probably null |
|
|
R6251:Epn1
|
UTSW |
7 |
5,098,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6251:Epn1
|
UTSW |
7 |
5,098,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6296:Epn1
|
UTSW |
7 |
5,093,122 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6710:Epn1
|
UTSW |
7 |
5,100,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6937:Epn1
|
UTSW |
7 |
5,092,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Epn1
|
UTSW |
7 |
5,096,380 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7420:Epn1
|
UTSW |
7 |
5,100,687 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7948:Epn1
|
UTSW |
7 |
5,092,992 (GRCm39) |
nonsense |
probably null |
|
|
R8766:Epn1
|
UTSW |
7 |
5,095,860 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8843:Epn1
|
UTSW |
7 |
5,096,375 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9059:Epn1
|
UTSW |
7 |
5,098,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9315:Epn1
|
UTSW |
7 |
5,096,339 (GRCm39) |
missense |
probably benign |
|
|
R9376:Epn1
|
UTSW |
7 |
5,086,720 (GRCm39) |
unclassified |
probably benign |
|
|
R9432:Epn1
|
UTSW |
7 |
5,096,369 (GRCm39) |
missense |
probably benign |
0.22 |
|
X0065:Epn1
|
UTSW |
7 |
5,098,092 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCATCCTTTCCACAGCAC -3'
(R):5'- GCCTATCGAGAAAGCCACAG -3'
Sequencing Primer
(F):5'- AGCTCCAAGCCTCCTGC -3'
(R):5'- CCACAGTGGCAAGAAAGTCACATTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation