Incidental Mutation 'R5852:Entrep2'
| ID |
454719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entrep2
|
| Ensembl Gene |
ENSMUSG00000030518 |
| Gene Name |
endosomal transmembrane epsin interactor 2 |
| Synonyms |
Fam189a1, 5730507A09Rik |
| MMRRC Submission |
043227-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5852 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
64405839-64806276 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64425579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 171
(H171L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119118]
[ENSMUST00000149851]
|
| AlphaFold |
Q6A044 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119118
AA Change: H267L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113680
Gene: ENSMUSG00000030518
AA Change: H267L
| 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 damaging
Transcript: ENSMUST00000149851
AA Change: H171L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115095
Gene: ENSMUSG00000030518
AA Change: H171L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
163 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,891,139 (GRCm39) |
I453F |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,720 (GRCm39) |
W402* |
probably null |
Het |
| Apcdd1 |
T |
C |
18: 63,070,134 (GRCm39) |
S134P |
probably damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,382,183 (GRCm39) |
V34A |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,397,377 (GRCm39) |
N65K |
probably damaging |
Het |
| Cntn6 |
G |
T |
6: 104,812,706 (GRCm39) |
V663F |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,536,711 (GRCm39) |
C201* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,344,955 (GRCm39) |
W2100R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,011,290 (GRCm39) |
S3634R |
probably benign |
Het |
| Gucy1a2 |
T |
C |
9: 3,865,460 (GRCm39) |
F645L |
probably damaging |
Het |
| Hs6st3 |
G |
T |
14: 120,106,738 (GRCm39) |
R382L |
probably damaging |
Het |
| Il27 |
T |
A |
7: 126,191,786 (GRCm39) |
T89S |
possibly damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Klhl23 |
T |
A |
2: 69,654,613 (GRCm39) |
I161N |
probably benign |
Het |
| Lrrk2 |
G |
A |
15: 91,640,152 (GRCm39) |
E1566K |
probably damaging |
Het |
| Mia3 |
A |
G |
1: 183,113,713 (GRCm39) |
V437A |
probably benign |
Het |
| Ncoa6 |
G |
T |
2: 155,247,419 (GRCm39) |
H1962N |
possibly damaging |
Het |
| Nox4 |
C |
T |
7: 86,988,172 (GRCm39) |
T361I |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,544,584 (GRCm39) |
Y1748C |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,699,369 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
G |
1: 20,447,632 (GRCm39) |
F2254L |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,935,518 (GRCm39) |
Y1018C |
probably damaging |
Het |
| Pnoc |
C |
T |
14: 65,648,671 (GRCm39) |
V8I |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,408 (GRCm39) |
D256G |
probably benign |
Het |
| Scrn3 |
T |
C |
2: 73,161,349 (GRCm39) |
F312L |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,339 (GRCm39) |
E239G |
possibly damaging |
Het |
| Tti1 |
A |
G |
2: 157,842,593 (GRCm39) |
L812P |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,694,518 (GRCm39) |
S62P |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,346,487 (GRCm39) |
S1659P |
probably damaging |
Het |
| Zng1 |
A |
G |
19: 24,932,769 (GRCm39) |
V88A |
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 |
|
R2340:Entrep2
|
UTSW |
7 |
64,425,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- TGTCTGAGAGAGGAGCCTTC -3'
(R):5'- GTCATCTCAGGCATGGTGTTC -3'
Sequencing Primer
(F):5'- AGCCTTCTAAGGGCAGGC -3'
(R):5'- GGTGTTCCATCCTGAAGGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation