Incidental Mutation 'IGL01554:Entrep3'
ID |
90684 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Entrep3
|
Ensembl Gene |
ENSMUSG00000032657 |
Gene Name |
endosomal transmembrane epsin interactor 3 |
Synonyms |
Fam189b, 1110013L07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
IGL01554
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
89090450-89096602 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89092888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 257
(T257A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039261
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029684]
[ENSMUST00000041913]
[ENSMUST00000098941]
[ENSMUST00000117278]
[ENSMUST00000119707]
[ENSMUST00000120697]
[ENSMUST00000147696]
[ENSMUST00000127982]
[ENSMUST00000140473]
|
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: T257A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000039261 Gene: ENSMUSG00000032657 AA Change: T257A
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: T238A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000113706 Gene: ENSMUSG00000032657 AA Change: T238A
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 damaging
Transcript: ENSMUST00000119707
AA Change: T179A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000113579 Gene: ENSMUSG00000032657 AA Change: T179A
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 |
noncoding transcript
Transcript: ENSMUST00000125501
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000147696
AA Change: T256A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117185 Gene: ENSMUSG00000032657 AA Change: T256A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136209
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126115
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129294
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155033
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131146
|
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,932,992 (GRCm39) |
I1211V |
probably benign |
Het |
Adgre4 |
A |
G |
17: 56,124,090 (GRCm39) |
S497G |
probably damaging |
Het |
Ankrd55 |
T |
C |
13: 112,459,601 (GRCm39) |
M65T |
possibly damaging |
Het |
Ermard |
A |
G |
17: 15,271,855 (GRCm39) |
D338G |
possibly damaging |
Het |
Espl1 |
T |
C |
15: 102,221,660 (GRCm39) |
L983P |
probably damaging |
Het |
Ext2 |
A |
C |
2: 93,642,294 (GRCm39) |
L192V |
probably damaging |
Het |
Fam83b |
T |
A |
9: 76,409,403 (GRCm39) |
Y241F |
probably benign |
Het |
Fbxl12 |
G |
A |
9: 20,550,215 (GRCm39) |
P170S |
possibly damaging |
Het |
Fsip2 |
C |
A |
2: 82,807,622 (GRCm39) |
P1314T |
possibly damaging |
Het |
Greb1l |
A |
G |
18: 10,522,144 (GRCm39) |
R747G |
probably benign |
Het |
Hspa1a |
G |
T |
17: 35,189,500 (GRCm39) |
P468T |
probably damaging |
Het |
Lamb1 |
T |
C |
12: 31,356,976 (GRCm39) |
C1028R |
probably damaging |
Het |
Lcn8 |
C |
T |
2: 25,544,198 (GRCm39) |
A40V |
possibly damaging |
Het |
Lmbrd2 |
A |
G |
15: 9,165,906 (GRCm39) |
Y260C |
possibly damaging |
Het |
Mex3d |
G |
T |
10: 80,217,869 (GRCm39) |
N449K |
possibly damaging |
Het |
Mgat4f |
A |
G |
1: 134,317,696 (GRCm39) |
N156S |
probably damaging |
Het |
Ncam2 |
A |
G |
16: 81,309,823 (GRCm39) |
K438E |
possibly damaging |
Het |
Nudt7 |
A |
G |
8: 114,874,625 (GRCm39) |
|
probably benign |
Het |
Nup214 |
C |
A |
2: 31,941,084 (GRCm39) |
S39* |
probably null |
Het |
Opn5 |
A |
G |
17: 42,918,089 (GRCm39) |
S58P |
probably damaging |
Het |
Or6c74 |
T |
C |
10: 129,870,052 (GRCm39) |
S186P |
probably damaging |
Het |
Or7e173 |
T |
C |
9: 19,938,704 (GRCm39) |
I177V |
possibly damaging |
Het |
Pcsk1 |
T |
A |
13: 75,280,426 (GRCm39) |
N750K |
probably benign |
Het |
Pdzrn3 |
T |
C |
6: 101,127,502 (GRCm39) |
N1055D |
probably damaging |
Het |
Phf2 |
T |
A |
13: 48,959,355 (GRCm39) |
K884* |
probably null |
Het |
Prkdc |
A |
G |
16: 15,470,166 (GRCm39) |
N191S |
probably benign |
Het |
Prpf8 |
A |
T |
11: 75,386,472 (GRCm39) |
Q987L |
probably damaging |
Het |
Prrc2c |
G |
A |
1: 162,538,355 (GRCm39) |
P425L |
probably damaging |
Het |
Rab36 |
T |
C |
10: 74,886,520 (GRCm39) |
I166T |
possibly damaging |
Het |
Rab3gap1 |
G |
T |
1: 127,855,745 (GRCm39) |
L461F |
possibly damaging |
Het |
Rnls |
A |
T |
19: 33,368,499 (GRCm39) |
Y27N |
possibly damaging |
Het |
Sncaip |
A |
T |
18: 53,002,006 (GRCm39) |
I176F |
possibly damaging |
Het |
Tagap |
G |
A |
17: 8,151,780 (GRCm39) |
G322S |
probably benign |
Het |
Tas2r130 |
C |
T |
6: 131,607,046 (GRCm39) |
A250T |
probably benign |
Het |
Tgs1 |
A |
G |
4: 3,593,632 (GRCm39) |
S507G |
probably null |
Het |
Ttn |
T |
C |
2: 76,706,056 (GRCm39) |
|
probably benign |
Het |
Zp2 |
T |
C |
7: 119,737,548 (GRCm39) |
K246E |
possibly 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 |
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 |
R9423:Entrep3
|
UTSW |
3 |
89,092,007 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2013-12-09 |