Incidental Mutation 'R2340:Entrep2'
| ID |
246707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entrep2
|
| Ensembl Gene |
ENSMUSG00000030518 |
| Gene Name |
endosomal transmembrane epsin interactor 2 |
| Synonyms |
Fam189a1, 5730507A09Rik |
| MMRRC Submission |
040326-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R2340 (G1)
|
| Quality Score |
205 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
64405839-64806276 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64425565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 176
(S176P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119118]
[ENSMUST00000149851]
|
| AlphaFold |
Q6A044 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119118
AA Change: S272P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113680
Gene: ENSMUSG00000030518
AA Change: S272P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
34 |
199 |
4.9e-33 |
PFAM |
|
low complexity region
|
243 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
392 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149851
AA Change: S176P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115095
Gene: ENSMUSG00000030518
AA Change: S176P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
163 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,349,165 (GRCm39) |
I3580F |
probably damaging |
Het |
| B3glct |
A |
G |
5: 149,668,905 (GRCm39) |
K280E |
probably benign |
Het |
| Chd6 |
TG |
T |
2: 160,807,679 (GRCm39) |
|
probably null |
Het |
| Clu |
T |
C |
14: 66,218,358 (GRCm39) |
V406A |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,490,741 (GRCm39) |
K114E |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,400,945 (GRCm39) |
D149E |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,160,922 (GRCm39) |
D3269E |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,591,187 (GRCm39) |
D69G |
probably damaging |
Het |
| Hacd1 |
G |
T |
2: 14,040,698 (GRCm39) |
P186T |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Kif2c |
A |
G |
4: 117,027,038 (GRCm39) |
V320A |
probably damaging |
Het |
| Lypd2 |
T |
A |
15: 74,606,103 (GRCm39) |
I12L |
probably benign |
Het |
| Midn |
G |
T |
10: 79,985,946 (GRCm39) |
R12L |
possibly damaging |
Het |
| Or2b6 |
T |
C |
13: 21,822,757 (GRCm39) |
K312R |
probably benign |
Het |
| Or8g34 |
A |
G |
9: 39,373,105 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or9q2 |
A |
G |
19: 13,772,135 (GRCm39) |
V280A |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,271,079 (GRCm39) |
V3158E |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rad51d |
T |
C |
11: 82,772,647 (GRCm39) |
D206G |
probably damaging |
Het |
| Rcan1 |
A |
G |
16: 92,194,240 (GRCm39) |
F58L |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,422,205 (GRCm39) |
I96T |
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,066,089 (GRCm39) |
F500I |
probably damaging |
Het |
| Rph3al |
T |
C |
11: 75,724,258 (GRCm39) |
T282A |
probably benign |
Het |
| Serpina11 |
T |
C |
12: 103,951,002 (GRCm39) |
R240G |
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,033,122 (GRCm39) |
I400N |
probably benign |
Het |
| Slco1a4 |
C |
A |
6: 141,787,103 (GRCm39) |
C28F |
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,184,174 (GRCm39) |
I134N |
probably damaging |
Het |
| Spock3 |
T |
A |
8: 63,798,747 (GRCm39) |
M253K |
probably damaging |
Het |
| Tmem184b |
T |
A |
15: 79,262,732 (GRCm39) |
M42L |
probably benign |
Het |
| Tnnt1 |
G |
A |
7: 4,516,615 (GRCm39) |
|
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,938,922 (GRCm39) |
S407T |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zfat |
T |
C |
15: 67,973,390 (GRCm39) |
E1117G |
probably damaging |
Het |
| Zfp606 |
A |
G |
7: 12,227,016 (GRCm39) |
E321G |
possibly damaging |
Het |
|
| Other mutations in Entrep2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02053:Entrep2
|
APN |
7 |
64,469,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02567:Entrep2
|
APN |
7 |
64,436,479 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
thick
|
UTSW |
7 |
64,409,116 (GRCm39) |
nonsense |
probably null |
|
|
R0612:Entrep2
|
UTSW |
7 |
64,411,549 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0720:Entrep2
|
UTSW |
7 |
64,469,658 (GRCm39) |
splice site |
probably benign |
|
|
R1368:Entrep2
|
UTSW |
7 |
64,469,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Entrep2
|
UTSW |
7 |
64,426,633 (GRCm39) |
splice site |
probably null |
|
|
R1840:Entrep2
|
UTSW |
7 |
64,408,943 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1972:Entrep2
|
UTSW |
7 |
64,425,516 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1973:Entrep2
|
UTSW |
7 |
64,425,516 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2201:Entrep2
|
UTSW |
7 |
64,409,141 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2230:Entrep2
|
UTSW |
7 |
64,408,970 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2232:Entrep2
|
UTSW |
7 |
64,408,970 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4809:Entrep2
|
UTSW |
7 |
64,426,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4923:Entrep2
|
UTSW |
7 |
64,417,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4928:Entrep2
|
UTSW |
7 |
64,409,116 (GRCm39) |
nonsense |
probably null |
|
|
R5556:Entrep2
|
UTSW |
7 |
64,505,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5852:Entrep2
|
UTSW |
7 |
64,425,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6169:Entrep2
|
UTSW |
7 |
64,409,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7029:Entrep2
|
UTSW |
7 |
64,409,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7455:Entrep2
|
UTSW |
7 |
64,409,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7512:Entrep2
|
UTSW |
7 |
64,805,918 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7896:Entrep2
|
UTSW |
7 |
64,426,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8166:Entrep2
|
UTSW |
7 |
64,409,153 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9729:Entrep2
|
UTSW |
7 |
64,806,056 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGGCTTCAACATAGGGC -3'
(R):5'- TGTCATGTCAGACACCATGCTC -3'
Sequencing Primer
(F):5'- TTCAACATAGGGCAGCCACTGG -3'
(R):5'- ACCATGCTCCATCCTCAGGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation