Incidental Mutation 'R4558:Entrep1'
ID |
397271 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Entrep1
|
Ensembl Gene |
ENSMUSG00000071604 |
Gene Name |
endosomal transmembrane epsin interactor 1 |
Synonyms |
LOC381217, Fam189a2 |
MMRRC Submission |
042005-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R4558 (G1)
|
Quality Score |
200 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
23950114-24008383 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24007913 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 130
(S130L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093878
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096164]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000096164
AA Change: S130L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000093878 Gene: ENSMUSG00000071604 AA Change: S130L
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
91 |
254 |
9.5e-33 |
PFAM |
low complexity region
|
282 |
294 |
N/A |
INTRINSIC |
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
low complexity region
|
567 |
584 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1823 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017G19Rik |
A |
G |
3: 40,567,240 (GRCm39) |
|
noncoding transcript |
Het |
A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
Acot11 |
T |
C |
4: 106,605,563 (GRCm39) |
N583S |
probably damaging |
Het |
Alox12 |
T |
G |
11: 70,143,889 (GRCm39) |
M164L |
probably benign |
Het |
Atad2b |
A |
G |
12: 4,993,223 (GRCm39) |
I247M |
probably benign |
Het |
Bmpr2 |
T |
A |
1: 59,884,851 (GRCm39) |
M279K |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,825,670 (GRCm39) |
T502A |
possibly damaging |
Het |
Casp12 |
A |
T |
9: 5,352,742 (GRCm39) |
Y188F |
probably damaging |
Het |
Catsperb |
A |
G |
12: 101,557,799 (GRCm39) |
Y790C |
possibly damaging |
Het |
Cnbd1 |
G |
T |
4: 19,055,095 (GRCm39) |
N110K |
possibly damaging |
Het |
Fam227b |
C |
T |
2: 125,968,963 (GRCm39) |
S37N |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,815,297 (GRCm39) |
S3677P |
possibly damaging |
Het |
Gm10764 |
A |
G |
10: 87,126,682 (GRCm39) |
|
noncoding transcript |
Het |
H2-Q6 |
T |
C |
17: 35,647,291 (GRCm39) |
V312A |
probably benign |
Het |
Hecw1 |
T |
A |
13: 14,422,190 (GRCm39) |
D972V |
probably damaging |
Het |
Kalrn |
G |
A |
16: 33,807,578 (GRCm39) |
T2597I |
possibly damaging |
Het |
Kng1 |
C |
A |
16: 22,896,168 (GRCm39) |
|
probably null |
Het |
Med13 |
T |
C |
11: 86,189,880 (GRCm39) |
T1010A |
probably damaging |
Het |
Nbeal1 |
C |
T |
1: 60,320,469 (GRCm39) |
R2021* |
probably null |
Het |
Ncapg |
A |
T |
5: 45,833,986 (GRCm39) |
T341S |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Pabir2 |
G |
A |
X: 52,349,554 (GRCm39) |
|
probably benign |
Het |
Pcdhb4 |
A |
G |
18: 37,443,017 (GRCm39) |
I776V |
probably benign |
Het |
Ppp4r4 |
T |
C |
12: 103,573,192 (GRCm39) |
V697A |
probably benign |
Het |
Pramel13 |
T |
C |
4: 144,122,542 (GRCm39) |
M1V |
probably null |
Het |
Psd4 |
G |
A |
2: 24,294,806 (GRCm39) |
V789M |
probably damaging |
Het |
Rasa3 |
T |
C |
8: 13,648,259 (GRCm39) |
E135G |
probably damaging |
Het |
Serpinb9c |
T |
A |
13: 33,338,482 (GRCm39) |
E139V |
probably benign |
Het |
Sgsm1 |
G |
A |
5: 113,405,977 (GRCm39) |
|
probably benign |
Het |
Tmem161b |
A |
G |
13: 84,399,363 (GRCm39) |
I6M |
possibly damaging |
Het |
Upf2 |
A |
G |
2: 5,978,404 (GRCm39) |
M423V |
unknown |
Het |
Vmn1r207 |
A |
G |
13: 22,910,581 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Entrep1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00485:Entrep1
|
APN |
19 |
23,962,086 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03162:Entrep1
|
APN |
19 |
23,965,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R0285:Entrep1
|
UTSW |
19 |
23,956,749 (GRCm39) |
splice site |
probably benign |
|
R0613:Entrep1
|
UTSW |
19 |
23,963,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R1078:Entrep1
|
UTSW |
19 |
23,950,939 (GRCm39) |
missense |
probably benign |
0.01 |
R1122:Entrep1
|
UTSW |
19 |
23,952,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R1228:Entrep1
|
UTSW |
19 |
23,956,829 (GRCm39) |
missense |
probably benign |
0.00 |
R1445:Entrep1
|
UTSW |
19 |
23,998,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R1469:Entrep1
|
UTSW |
19 |
23,950,970 (GRCm39) |
missense |
probably benign |
0.01 |
R1469:Entrep1
|
UTSW |
19 |
23,950,970 (GRCm39) |
missense |
probably benign |
0.01 |
R1547:Entrep1
|
UTSW |
19 |
23,957,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R1657:Entrep1
|
UTSW |
19 |
23,952,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R1710:Entrep1
|
UTSW |
19 |
23,957,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R3701:Entrep1
|
UTSW |
19 |
23,956,831 (GRCm39) |
missense |
probably benign |
0.00 |
R4163:Entrep1
|
UTSW |
19 |
23,953,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R4163:Entrep1
|
UTSW |
19 |
23,952,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R4164:Entrep1
|
UTSW |
19 |
23,953,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R4164:Entrep1
|
UTSW |
19 |
23,952,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R4303:Entrep1
|
UTSW |
19 |
23,953,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R4303:Entrep1
|
UTSW |
19 |
23,952,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R4418:Entrep1
|
UTSW |
19 |
23,956,799 (GRCm39) |
missense |
probably benign |
|
R4559:Entrep1
|
UTSW |
19 |
24,007,913 (GRCm39) |
missense |
probably damaging |
0.99 |
R4866:Entrep1
|
UTSW |
19 |
23,952,790 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4879:Entrep1
|
UTSW |
19 |
23,953,019 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4900:Entrep1
|
UTSW |
19 |
23,952,790 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4934:Entrep1
|
UTSW |
19 |
23,950,789 (GRCm39) |
makesense |
probably null |
|
R5530:Entrep1
|
UTSW |
19 |
23,952,958 (GRCm39) |
missense |
probably benign |
0.01 |
R5942:Entrep1
|
UTSW |
19 |
23,963,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R6041:Entrep1
|
UTSW |
19 |
23,962,193 (GRCm39) |
missense |
probably benign |
0.41 |
R6207:Entrep1
|
UTSW |
19 |
23,950,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R6572:Entrep1
|
UTSW |
19 |
23,962,082 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6573:Entrep1
|
UTSW |
19 |
23,965,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R6711:Entrep1
|
UTSW |
19 |
23,955,463 (GRCm39) |
missense |
probably benign |
0.02 |
R6952:Entrep1
|
UTSW |
19 |
23,962,082 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7621:Entrep1
|
UTSW |
19 |
23,972,168 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7968:Entrep1
|
UTSW |
19 |
23,962,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R8482:Entrep1
|
UTSW |
19 |
23,965,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R8676:Entrep1
|
UTSW |
19 |
23,965,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R8989:Entrep1
|
UTSW |
19 |
23,962,196 (GRCm39) |
missense |
probably damaging |
0.99 |
R9090:Entrep1
|
UTSW |
19 |
23,972,221 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9271:Entrep1
|
UTSW |
19 |
23,972,221 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9687:Entrep1
|
UTSW |
19 |
23,957,029 (GRCm39) |
missense |
probably damaging |
0.99 |
X0018:Entrep1
|
UTSW |
19 |
23,953,010 (GRCm39) |
frame shift |
probably null |
|
X0020:Entrep1
|
UTSW |
19 |
23,953,010 (GRCm39) |
frame shift |
probably null |
|
X0027:Entrep1
|
UTSW |
19 |
23,953,010 (GRCm39) |
frame shift |
probably null |
|
X0065:Entrep1
|
UTSW |
19 |
23,953,010 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACTGTCTCCCGACACTAAC -3'
(R):5'- TGGACACTTTTCCCGGTGAC -3'
Sequencing Primer
(F):5'- GTCTCCCGACACTAACCTCCC -3'
(R):5'- TGCTCTGCAGCCTCCAG -3'
|
Posted On |
2016-07-05 |