Incidental Mutation 'IGL02067:Entrep3'
| ID |
283328 |
| 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: 0.075)
|
| Stock # |
IGL02067
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89090450-89096602 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 89095903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 545
(R545*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041913]
[ENSMUST00000117278]
[ENSMUST00000119707]
[ENSMUST00000127982]
[ENSMUST00000147696]
[ENSMUST00000140473]
|
| AlphaFold |
Q5HZJ5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041913
AA Change: R623*
|
| SMART Domains |
Protein: ENSMUSP00000039261
Gene: ENSMUSG00000032657
AA Change: R623*
| 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 null
Transcript: ENSMUST00000117278
AA Change: R604*
|
| SMART Domains |
Protein: ENSMUSP00000113706
Gene: ENSMUSG00000032657
AA Change: R604*
| 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 null
Transcript: ENSMUST00000119707
AA Change: R545*
|
| SMART Domains |
Protein: ENSMUSP00000113579
Gene: ENSMUSG00000032657
AA Change: R545*
| 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 |
noncoding transcript
Transcript: ENSMUST00000125501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126115
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000136209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155033
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147696
|
| SMART Domains |
Protein: ENSMUSP00000117185
Gene: ENSMUSG00000032657
| 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 |
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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
C |
T |
5: 107,691,816 (GRCm39) |
R36* |
probably null |
Het |
| Aplp2 |
T |
A |
9: 31,062,191 (GRCm39) |
K688N |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,213,825 (GRCm39) |
Q13K |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Chrna6 |
A |
G |
8: 27,894,424 (GRCm39) |
S494P |
probably damaging |
Het |
| Clcc1 |
T |
A |
3: 108,576,037 (GRCm39) |
L195H |
probably damaging |
Het |
| Coq3 |
A |
G |
4: 21,900,397 (GRCm39) |
E208G |
probably benign |
Het |
| Dock4 |
T |
G |
12: 40,884,384 (GRCm39) |
S1684A |
probably damaging |
Het |
| Duoxa2 |
G |
A |
2: 122,131,072 (GRCm39) |
V78M |
possibly damaging |
Het |
| Fam8a1 |
G |
T |
13: 46,823,324 (GRCm39) |
R88L |
possibly damaging |
Het |
| Ganc |
A |
G |
2: 120,236,785 (GRCm39) |
D23G |
probably benign |
Het |
| Gm14305 |
A |
T |
2: 176,411,110 (GRCm39) |
E53D |
probably damaging |
Het |
| Ing5 |
T |
A |
1: 93,739,648 (GRCm39) |
L58Q |
probably damaging |
Het |
| Klrb1-ps1 |
A |
G |
6: 129,106,351 (GRCm39) |
D164G |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,052,792 (GRCm39) |
T1389M |
probably benign |
Het |
| Lrp6 |
A |
T |
6: 134,457,359 (GRCm39) |
I815K |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,861,639 (GRCm38) |
D565G |
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,435,473 (GRCm39) |
E641G |
probably damaging |
Het |
| Rbm44 |
T |
C |
1: 91,080,567 (GRCm39) |
S252P |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,173,247 (GRCm39) |
V1810A |
probably damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,373,095 (GRCm39) |
V754A |
probably benign |
Het |
| Slc27a6 |
A |
G |
18: 58,745,263 (GRCm39) |
T566A |
probably benign |
Het |
| Stxbp6 |
C |
T |
12: 44,908,081 (GRCm39) |
R179Q |
probably damaging |
Het |
| Supt6 |
T |
A |
11: 78,121,983 (GRCm39) |
Y223F |
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,939,100 (GRCm39) |
I649M |
probably damaging |
Het |
| Tecrl |
A |
T |
5: 83,432,122 (GRCm39) |
C258S |
probably benign |
Het |
| Zfp128 |
T |
C |
7: 12,618,977 (GRCm39) |
I74T |
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation