Incidental Mutation 'R1547:Entrep1'
| ID |
172297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entrep1
|
| Ensembl Gene |
ENSMUSG00000071604 |
| Gene Name |
endosomal transmembrane epsin interactor 1 |
| Synonyms |
LOC381217, Fam189a2 |
| MMRRC Submission |
039586-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R1547 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
23950114-24008383 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23957065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 315
(D315G)
|
| 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: D315G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093878
Gene: ENSMUSG00000071604
AA Change: D315G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
C |
12: 21,403,958 (GRCm39) |
V96G |
probably damaging |
Het |
| Adam5 |
G |
T |
8: 25,300,729 (GRCm39) |
Q267K |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,581,383 (GRCm39) |
T833A |
probably benign |
Het |
| Ago4 |
C |
T |
4: 126,405,206 (GRCm39) |
E456K |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,459,476 (GRCm39) |
Q1861R |
probably benign |
Het |
| Apob |
A |
T |
12: 8,053,368 (GRCm39) |
D1270V |
probably benign |
Het |
| Arb2a |
T |
C |
13: 77,973,509 (GRCm39) |
|
probably null |
Het |
| Arhgef11 |
T |
A |
3: 87,602,709 (GRCm39) |
I196N |
possibly damaging |
Het |
| Armh4 |
A |
T |
14: 50,010,953 (GRCm39) |
D251E |
probably benign |
Het |
| Capzb |
G |
A |
4: 138,989,409 (GRCm39) |
|
probably null |
Het |
| Ccdc183 |
T |
A |
2: 25,499,362 (GRCm39) |
T466S |
probably benign |
Het |
| Cd101 |
T |
C |
3: 100,926,267 (GRCm39) |
T151A |
possibly damaging |
Het |
| Cdc42bpa |
A |
T |
1: 179,902,209 (GRCm39) |
I489F |
probably damaging |
Het |
| Cetn4 |
T |
C |
3: 37,363,600 (GRCm39) |
K52R |
possibly damaging |
Het |
| Dock6 |
C |
T |
9: 21,725,884 (GRCm39) |
E1440K |
probably damaging |
Het |
| Edem2 |
A |
G |
2: 155,564,436 (GRCm39) |
F94L |
probably damaging |
Het |
| Elp1 |
C |
A |
4: 56,792,090 (GRCm39) |
R226L |
probably damaging |
Het |
| Elp1 |
C |
T |
4: 56,798,810 (GRCm39) |
V51M |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,143,081 (GRCm39) |
P4256L |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Kif19a |
A |
G |
11: 114,677,398 (GRCm39) |
E594G |
probably benign |
Het |
| Kifap3 |
A |
G |
1: 163,621,655 (GRCm39) |
D101G |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,784,832 (GRCm39) |
D102G |
probably benign |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Lamb2 |
A |
G |
9: 108,359,824 (GRCm39) |
H388R |
probably benign |
Het |
| Lmna |
T |
C |
3: 88,389,658 (GRCm39) |
S656G |
probably benign |
Het |
| Map3k12 |
T |
A |
15: 102,412,287 (GRCm39) |
I285F |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 31,991,796 (GRCm39) |
I345V |
probably benign |
Het |
| Mcph1 |
A |
G |
8: 18,672,702 (GRCm39) |
R111G |
possibly damaging |
Het |
| Mfsd6l |
T |
A |
11: 68,447,434 (GRCm39) |
V95D |
probably damaging |
Het |
| Mogs |
T |
A |
6: 83,093,006 (GRCm39) |
M118K |
possibly damaging |
Het |
| Npy5r |
T |
C |
8: 67,133,686 (GRCm39) |
E369G |
possibly damaging |
Het |
| Nudt16l2 |
A |
T |
9: 105,021,889 (GRCm39) |
F52L |
probably damaging |
Het |
| Or10j3 |
T |
A |
1: 173,031,239 (GRCm39) |
Y105* |
probably null |
Het |
| Or2t49 |
A |
G |
11: 58,392,651 (GRCm39) |
S244P |
probably damaging |
Het |
| Or8b12b |
A |
C |
9: 37,683,960 (GRCm39) |
T2P |
probably benign |
Het |
| Pde7b |
C |
A |
10: 20,310,340 (GRCm39) |
L207F |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,020,689 (GRCm39) |
V751A |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,381 (GRCm39) |
Y1923C |
probably benign |
Het |
| Prokr2 |
T |
C |
2: 132,215,522 (GRCm39) |
Y152C |
probably damaging |
Het |
| Rab40c |
A |
G |
17: 26,102,724 (GRCm39) |
S223P |
probably damaging |
Het |
| Recql4 |
A |
C |
15: 76,590,511 (GRCm39) |
C658G |
probably damaging |
Het |
| Sgca |
T |
C |
11: 94,860,259 (GRCm39) |
T46A |
probably damaging |
Het |
| Slc39a4 |
G |
T |
15: 76,498,347 (GRCm39) |
C363* |
probably null |
Het |
| Snap25 |
A |
T |
2: 136,619,389 (GRCm39) |
I181F |
possibly damaging |
Het |
| Snx32 |
T |
A |
19: 5,547,339 (GRCm39) |
Q256L |
possibly damaging |
Het |
| Soat1 |
A |
G |
1: 156,267,331 (GRCm39) |
V284A |
probably damaging |
Het |
| Sox6 |
G |
A |
7: 115,300,957 (GRCm39) |
T170M |
possibly damaging |
Het |
| Spag16 |
G |
T |
1: 69,912,402 (GRCm39) |
V246F |
possibly damaging |
Het |
| St6galnac6 |
T |
C |
2: 32,504,977 (GRCm39) |
V141A |
possibly damaging |
Het |
| Sult2a7 |
T |
A |
7: 14,211,047 (GRCm39) |
|
probably null |
Het |
| Syngr3 |
A |
T |
17: 24,906,698 (GRCm39) |
V39E |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,508,418 (GRCm39) |
T917A |
probably damaging |
Het |
| Tas1r1 |
A |
G |
4: 152,112,876 (GRCm39) |
S726P |
probably damaging |
Het |
| Zeb1 |
C |
T |
18: 5,767,450 (GRCm39) |
R654C |
possibly damaging |
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 |
|
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'- TGGCATTTGGAATGAAGACTCCTGC -3'
(R):5'- TCACGAATCAGACGTGAAGGAAACC -3'
Sequencing Primer
(F):5'- TTGGAATGAAGACTCCTGCATCAG -3'
(R):5'- gcaaccatcacctctaactctc -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation