Incidental Mutation 'R1078:Entrep1'
ID |
85762 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Entrep1
|
Ensembl Gene |
ENSMUSG00000071604 |
Gene Name |
endosomal transmembrane epsin interactor 1 |
Synonyms |
LOC381217, Fam189a2 |
MMRRC Submission |
039164-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R1078 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
23950114-24008383 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 23950939 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 547
(R547S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093878
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096164]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096164
AA Change: R547S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000093878 Gene: ENSMUSG00000071604 AA Change: R547S
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 |
0.0719 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.4%
- 20x: 94.4%
|
Validation Efficiency |
96% (53/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130230L23Rik |
T |
C |
5: 66,145,698 (GRCm39) |
T138A |
unknown |
Het |
Abi3bp |
T |
C |
16: 56,474,444 (GRCm39) |
|
probably null |
Het |
Alpk3 |
A |
T |
7: 80,728,348 (GRCm39) |
M493L |
probably benign |
Het |
Bace2 |
C |
T |
16: 97,158,060 (GRCm39) |
A20V |
unknown |
Het |
Bms1 |
T |
C |
6: 118,382,182 (GRCm39) |
D452G |
probably benign |
Het |
Ccdc187 |
T |
C |
2: 26,184,389 (GRCm39) |
T3A |
probably damaging |
Het |
Ctu2 |
T |
C |
8: 123,208,238 (GRCm39) |
V95A |
possibly damaging |
Het |
Cyp2a5 |
A |
G |
7: 26,534,966 (GRCm39) |
K60E |
probably benign |
Het |
Cyp4f13 |
T |
C |
17: 33,144,542 (GRCm39) |
H318R |
probably damaging |
Het |
Dlgap5 |
G |
A |
14: 47,637,023 (GRCm39) |
T485M |
probably damaging |
Het |
Dsp |
C |
T |
13: 38,367,082 (GRCm39) |
|
probably benign |
Het |
Ell2 |
T |
C |
13: 75,894,538 (GRCm39) |
|
probably benign |
Het |
Eml2 |
A |
T |
7: 18,913,687 (GRCm39) |
Y168F |
probably benign |
Het |
Ep400 |
C |
T |
5: 110,883,388 (GRCm39) |
|
probably benign |
Het |
Ercc4 |
C |
A |
16: 12,948,061 (GRCm39) |
A336D |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,037,235 (GRCm39) |
L3629S |
probably benign |
Het |
Gabbr2 |
C |
T |
4: 46,664,833 (GRCm39) |
R925H |
probably damaging |
Het |
Gfi1b |
A |
T |
2: 28,503,877 (GRCm39) |
W108R |
probably damaging |
Het |
Gtse1 |
C |
T |
15: 85,746,508 (GRCm39) |
P108L |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 107,026,696 (GRCm39) |
F140I |
probably damaging |
Het |
Hyal2 |
T |
A |
9: 107,449,445 (GRCm39) |
H400Q |
probably benign |
Het |
Igfn1 |
A |
G |
1: 135,902,585 (GRCm39) |
Y371H |
probably damaging |
Het |
Il22b |
T |
G |
10: 118,126,056 (GRCm39) |
*180C |
probably null |
Het |
Kdm2b |
T |
C |
5: 123,099,604 (GRCm39) |
T118A |
possibly damaging |
Het |
Lama5 |
A |
T |
2: 179,821,557 (GRCm39) |
|
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lmo7 |
C |
T |
14: 102,157,910 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
G |
T |
11: 103,388,457 (GRCm39) |
P2323T |
unknown |
Het |
Lrrc38 |
A |
G |
4: 143,077,088 (GRCm39) |
Y117C |
probably benign |
Het |
Myo1e |
T |
C |
9: 70,291,281 (GRCm39) |
V1024A |
probably benign |
Het |
Myrfl |
T |
C |
10: 116,612,637 (GRCm39) |
N904S |
possibly damaging |
Het |
Or12d13 |
T |
A |
17: 37,647,917 (GRCm39) |
I69F |
probably damaging |
Het |
Or4k47 |
T |
C |
2: 111,451,690 (GRCm39) |
H243R |
probably damaging |
Het |
Or9g4b |
T |
C |
2: 85,616,437 (GRCm39) |
V194A |
possibly damaging |
Het |
Pld4 |
A |
T |
12: 112,729,876 (GRCm39) |
I53F |
probably benign |
Het |
Plekhg4 |
T |
A |
8: 106,108,309 (GRCm39) |
C1117* |
probably null |
Het |
Prss39 |
G |
A |
1: 34,541,167 (GRCm39) |
E224K |
probably benign |
Het |
Psme1 |
G |
T |
14: 55,818,107 (GRCm39) |
G149V |
probably damaging |
Het |
Sanbr |
A |
C |
11: 23,561,762 (GRCm39) |
I358S |
probably benign |
Het |
Soat2 |
T |
A |
15: 102,061,573 (GRCm39) |
|
probably null |
Het |
Stab2 |
C |
T |
10: 86,742,997 (GRCm39) |
|
probably null |
Het |
Tcf7l2 |
A |
G |
19: 55,731,627 (GRCm39) |
T127A |
probably benign |
Het |
Tcp1 |
T |
C |
17: 13,142,091 (GRCm39) |
|
probably benign |
Het |
Thbs4 |
G |
A |
13: 92,899,434 (GRCm39) |
|
probably benign |
Het |
Tmf1 |
T |
C |
6: 97,150,261 (GRCm39) |
D482G |
probably damaging |
Het |
Trim66 |
G |
T |
7: 109,071,526 (GRCm39) |
P591H |
probably damaging |
Het |
Umodl1 |
T |
C |
17: 31,178,347 (GRCm39) |
S108P |
probably benign |
Het |
Unc79 |
T |
G |
12: 103,041,112 (GRCm39) |
M715R |
probably benign |
Het |
Usp34 |
C |
A |
11: 23,383,175 (GRCm39) |
|
probably benign |
Het |
Utrn |
T |
G |
10: 12,331,310 (GRCm39) |
|
probably null |
Het |
Zfp830 |
T |
C |
11: 82,656,165 (GRCm39) |
|
probably null |
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 |
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 |
|
R4558:Entrep1
|
UTSW |
19 |
24,007,913 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- CACAGGACAGTCTCTCGAATGACAC -3'
(R):5'- GGTTAGCAGAGCTACCTGAAGCATC -3'
Sequencing Primer
(F):5'- TGACACCAATAAGGCTGTGTG -3'
(R):5'- aggtggagagtgatagaggaag -3'
|
Posted On |
2013-11-18 |