Incidental Mutation 'R9423:Entrep3'
ID |
712424 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Entrep3
|
Ensembl Gene |
ENSMUSG00000032657 |
Gene Name |
endosomal transmembrane epsin interactor 3 |
Synonyms |
Fam189b, 1110013L07Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R9423 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
89090450-89096602 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 89092007 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 155
(L155Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039261
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029684]
[ENSMUST00000041913]
[ENSMUST00000098941]
[ENSMUST00000117278]
[ENSMUST00000119707]
[ENSMUST00000120697]
[ENSMUST00000127982]
[ENSMUST00000140473]
[ENSMUST00000147696]
|
AlphaFold |
Q5HZJ5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029684
|
SMART Domains |
Protein: ENSMUSP00000029684 Gene: ENSMUSG00000028049
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
coiled coil region
|
89 |
127 |
N/A |
INTRINSIC |
Pfam:SCAMP
|
133 |
310 |
1.5e-76 |
PFAM |
low complexity region
|
329 |
348 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041913
AA Change: L155Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039261 Gene: ENSMUSG00000032657 AA Change: L155Q
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
Pfam:CD20
|
36 |
196 |
8e-36 |
PFAM |
low complexity region
|
243 |
254 |
N/A |
INTRINSIC |
low complexity region
|
390 |
408 |
N/A |
INTRINSIC |
low complexity region
|
445 |
463 |
N/A |
INTRINSIC |
low complexity region
|
471 |
490 |
N/A |
INTRINSIC |
low complexity region
|
628 |
649 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098941
|
SMART Domains |
Protein: ENSMUSP00000096540 Gene: ENSMUSG00000028049
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
coiled coil region
|
89 |
127 |
N/A |
INTRINSIC |
Pfam:SCAMP
|
133 |
229 |
5.5e-46 |
PFAM |
Pfam:SCAMP
|
227 |
276 |
2.2e-11 |
PFAM |
low complexity region
|
295 |
314 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117278
AA Change: L136Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113706 Gene: ENSMUSG00000032657 AA Change: L136Q
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
Pfam:CD20
|
74 |
177 |
7.3e-13 |
PFAM |
low complexity region
|
224 |
235 |
N/A |
INTRINSIC |
low complexity region
|
371 |
389 |
N/A |
INTRINSIC |
low complexity region
|
426 |
444 |
N/A |
INTRINSIC |
low complexity region
|
452 |
471 |
N/A |
INTRINSIC |
low complexity region
|
609 |
630 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119707
|
SMART Domains |
Protein: ENSMUSP00000113579 Gene: ENSMUSG00000032657
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
Pfam:CD20
|
36 |
196 |
1.9e-18 |
PFAM |
low complexity region
|
312 |
330 |
N/A |
INTRINSIC |
low complexity region
|
367 |
385 |
N/A |
INTRINSIC |
low complexity region
|
393 |
412 |
N/A |
INTRINSIC |
low complexity region
|
550 |
571 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120697
|
SMART Domains |
Protein: ENSMUSP00000112846 Gene: ENSMUSG00000028049
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
70 |
N/A |
INTRINSIC |
coiled coil region
|
90 |
128 |
N/A |
INTRINSIC |
Pfam:SCAMP
|
135 |
310 |
1.1e-67 |
PFAM |
low complexity region
|
330 |
349 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127982
|
SMART Domains |
Protein: ENSMUSP00000114855 Gene: ENSMUSG00000032657
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
Pfam:CD20
|
36 |
77 |
6.7e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140473
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000147696
AA Change: L155Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117185 Gene: ENSMUSG00000032657 AA Change: L155Q
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
Pfam:CD20
|
36 |
196 |
1.9e-30 |
PFAM |
low complexity region
|
242 |
253 |
N/A |
INTRINSIC |
low complexity region
|
324 |
349 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (23/23) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
G |
11: 119,901,520 (GRCm39) |
S959P |
probably damaging |
Het |
Abca13 |
T |
C |
11: 9,240,395 (GRCm39) |
S753P |
probably damaging |
Het |
Abcb10 |
A |
G |
8: 124,688,819 (GRCm39) |
S486P |
|
Het |
Adamts19 |
G |
T |
18: 59,023,427 (GRCm39) |
R274L |
possibly damaging |
Het |
Ahcyl1 |
C |
T |
3: 107,578,476 (GRCm39) |
E254K |
probably damaging |
Het |
Ccdc177 |
T |
G |
12: 80,804,162 (GRCm39) |
D704A |
unknown |
Het |
Cd200r3 |
T |
C |
16: 44,771,895 (GRCm39) |
V53A |
probably benign |
Het |
Cdc42bpg |
T |
C |
19: 6,363,329 (GRCm39) |
L429P |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,148,387 (GRCm39) |
D2660G |
probably damaging |
Het |
Cfap61 |
G |
T |
2: 145,985,155 (GRCm39) |
A1000S |
probably damaging |
Het |
Col28a1 |
T |
C |
6: 7,999,601 (GRCm39) |
T1039A |
probably benign |
Het |
Ctsd |
A |
G |
7: 141,939,212 (GRCm39) |
L71P |
probably damaging |
Het |
Dab2ip |
C |
T |
2: 35,599,966 (GRCm39) |
T251M |
probably damaging |
Het |
Dcaf8 |
T |
A |
1: 172,007,524 (GRCm39) |
I331N |
probably damaging |
Het |
Dcp2 |
C |
T |
18: 44,538,361 (GRCm39) |
R173C |
probably damaging |
Het |
Dgka |
C |
T |
10: 128,557,055 (GRCm39) |
C640Y |
probably damaging |
Het |
Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
Gpr141 |
T |
C |
13: 19,935,995 (GRCm39) |
N260S |
probably benign |
Het |
Htr2a |
T |
A |
14: 74,943,516 (GRCm39) |
F365L |
probably damaging |
Het |
Kdm5b |
T |
C |
1: 134,515,705 (GRCm39) |
Y110H |
possibly damaging |
Het |
Ktn1 |
A |
G |
14: 47,912,318 (GRCm39) |
T362A |
probably benign |
Het |
Ltbp1 |
G |
A |
17: 75,597,112 (GRCm39) |
S581N |
probably benign |
Het |
Nr1h4 |
C |
A |
10: 89,309,688 (GRCm39) |
R347L |
possibly damaging |
Het |
Or4f60 |
A |
T |
2: 111,902,808 (GRCm39) |
M40K |
possibly damaging |
Het |
Or8g26 |
G |
T |
9: 39,095,838 (GRCm39) |
M118I |
probably damaging |
Het |
Parg |
T |
G |
14: 31,939,662 (GRCm39) |
F563V |
probably damaging |
Het |
Pfkfb3 |
T |
C |
2: 11,487,276 (GRCm39) |
Y378C |
probably damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Pitpnm2 |
A |
C |
5: 124,271,469 (GRCm39) |
L368R |
probably benign |
Het |
Pkd1l3 |
A |
G |
8: 110,350,312 (GRCm39) |
T386A |
possibly damaging |
Het |
Plch2 |
C |
A |
4: 155,071,049 (GRCm39) |
C1110F |
|
Het |
Poc5 |
T |
C |
13: 96,547,114 (GRCm39) |
V459A |
probably damaging |
Het |
Pou4f3 |
T |
C |
18: 42,528,959 (GRCm39) |
S301P |
probably damaging |
Het |
Rpf2 |
T |
C |
10: 40,101,336 (GRCm39) |
D233G |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Samd4b |
A |
G |
7: 28,113,633 (GRCm39) |
Y111H |
probably benign |
Het |
Serpinb10 |
C |
T |
1: 107,466,179 (GRCm39) |
T55M |
probably benign |
Het |
Serpinb1a |
C |
T |
13: 33,026,910 (GRCm39) |
C344Y |
probably benign |
Het |
Shprh |
T |
C |
10: 11,081,007 (GRCm39) |
V1524A |
probably damaging |
Het |
Sirt1 |
T |
C |
10: 63,158,025 (GRCm39) |
H463R |
probably damaging |
Het |
Skor2 |
T |
A |
18: 76,948,300 (GRCm39) |
L674Q |
probably damaging |
Het |
Slc3a2 |
T |
A |
19: 8,690,189 (GRCm39) |
K201M |
possibly damaging |
Het |
Spata31h1 |
C |
A |
10: 82,123,459 (GRCm39) |
V3184L |
possibly damaging |
Het |
Stam |
C |
A |
2: 14,146,564 (GRCm39) |
Q421K |
possibly damaging |
Het |
Steap4 |
G |
A |
5: 8,026,720 (GRCm39) |
V228M |
probably damaging |
Het |
Tacr3 |
A |
G |
3: 134,638,043 (GRCm39) |
Y400C |
probably benign |
Het |
Tecpr1 |
A |
G |
5: 144,155,396 (GRCm39) |
V54A |
probably damaging |
Het |
Tgm3 |
A |
T |
2: 129,880,527 (GRCm39) |
E444D |
probably benign |
Het |
Trim30a |
A |
T |
7: 104,078,410 (GRCm39) |
L222Q |
probably damaging |
Het |
Trmt1l |
T |
C |
1: 151,325,817 (GRCm39) |
Y421H |
possibly damaging |
Het |
Usp24 |
T |
C |
4: 106,288,867 (GRCm39) |
F2500L |
probably damaging |
Het |
Vmn2r54 |
T |
A |
7: 12,349,441 (GRCm39) |
S714C |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,227,735 (GRCm39) |
I409T |
probably benign |
Het |
Zfta |
T |
C |
19: 7,397,624 (GRCm39) |
L57P |
probably damaging |
Het |
|
Other mutations in Entrep3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01382:Entrep3
|
APN |
3 |
89,095,733 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01554:Entrep3
|
APN |
3 |
89,092,888 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02061:Entrep3
|
APN |
3 |
89,095,903 (GRCm39) |
nonsense |
probably null |
|
IGL02064:Entrep3
|
APN |
3 |
89,095,903 (GRCm39) |
nonsense |
probably null |
|
IGL02065:Entrep3
|
APN |
3 |
89,095,903 (GRCm39) |
nonsense |
probably null |
|
IGL02066:Entrep3
|
APN |
3 |
89,095,903 (GRCm39) |
nonsense |
probably null |
|
IGL02067:Entrep3
|
APN |
3 |
89,095,903 (GRCm39) |
nonsense |
probably null |
|
IGL02068:Entrep3
|
APN |
3 |
89,095,903 (GRCm39) |
nonsense |
probably null |
|
IGL02890:Entrep3
|
APN |
3 |
89,094,089 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1219:Entrep3
|
UTSW |
3 |
89,091,155 (GRCm39) |
missense |
probably damaging |
0.99 |
R1634:Entrep3
|
UTSW |
3 |
89,095,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R1645:Entrep3
|
UTSW |
3 |
89,094,154 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2043:Entrep3
|
UTSW |
3 |
89,092,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R4176:Entrep3
|
UTSW |
3 |
89,091,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R4379:Entrep3
|
UTSW |
3 |
89,093,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R5972:Entrep3
|
UTSW |
3 |
89,093,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R7617:Entrep3
|
UTSW |
3 |
89,092,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R7831:Entrep3
|
UTSW |
3 |
89,091,520 (GRCm39) |
splice site |
probably null |
|
R7867:Entrep3
|
UTSW |
3 |
89,093,083 (GRCm39) |
nonsense |
probably null |
|
R8099:Entrep3
|
UTSW |
3 |
89,091,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R8201:Entrep3
|
UTSW |
3 |
89,093,115 (GRCm39) |
missense |
probably damaging |
0.99 |
R8314:Entrep3
|
UTSW |
3 |
89,095,453 (GRCm39) |
critical splice donor site |
probably null |
|
R8553:Entrep3
|
UTSW |
3 |
89,094,153 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8767:Entrep3
|
UTSW |
3 |
89,091,725 (GRCm39) |
intron |
probably benign |
|
R9048:Entrep3
|
UTSW |
3 |
89,093,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R9407:Entrep3
|
UTSW |
3 |
89,094,645 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9593:Entrep3
|
UTSW |
3 |
89,091,199 (GRCm39) |
missense |
probably benign |
0.30 |
R9599:Entrep3
|
UTSW |
3 |
89,094,099 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Predicted Primers |
|
Posted On |
2022-05-16 |