Incidental Mutation 'R4379:Entrep3'
| ID |
325229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entrep3
|
| Ensembl Gene |
ENSMUSG00000032657 |
| Gene Name |
endosomal transmembrane epsin interactor 3 |
| Synonyms |
Fam189b, 1110013L07Rik |
| MMRRC Submission |
041677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R4379 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89090450-89096602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89093064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 274
(D274V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029684]
[ENSMUST00000041913]
[ENSMUST00000098941]
[ENSMUST00000117278]
[ENSMUST00000119707]
[ENSMUST00000120697]
[ENSMUST00000127982]
[ENSMUST00000147696]
[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: D274V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039261
Gene: ENSMUSG00000032657
AA Change: D274V
| 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: D255V
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113706
Gene: ENSMUSG00000032657
AA Change: D255V
| 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: D196V
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113579
Gene: ENSMUSG00000032657
AA Change: D196V
| 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 |
noncoding transcript
Transcript: ENSMUST00000126115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129294
|
| 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: 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
95% (53/56) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
A |
5: 8,915,875 (GRCm39) |
H1252Q |
probably benign |
Het |
| Adcy3 |
T |
C |
12: 4,184,558 (GRCm39) |
L78P |
probably damaging |
Het |
| Agmat |
G |
T |
4: 141,484,802 (GRCm39) |
A282S |
probably benign |
Het |
| Akap8 |
G |
T |
17: 32,525,534 (GRCm39) |
T515K |
probably damaging |
Het |
| Akap8l |
T |
C |
17: 32,540,488 (GRCm39) |
|
probably benign |
Het |
| Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
| AW209491 |
T |
C |
13: 14,812,412 (GRCm39) |
*422Q |
probably null |
Het |
| Cdan1 |
A |
G |
2: 120,557,099 (GRCm39) |
F576L |
probably damaging |
Het |
| Cers5 |
A |
G |
15: 99,649,134 (GRCm39) |
F45L |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,267,056 (GRCm39) |
I5011V |
probably benign |
Het |
| Dst |
T |
C |
1: 34,202,316 (GRCm39) |
S215P |
probably damaging |
Het |
| En1 |
A |
G |
1: 120,531,084 (GRCm39) |
N108S |
possibly damaging |
Het |
| Fancd2 |
T |
C |
6: 113,538,677 (GRCm39) |
S591P |
probably benign |
Het |
| Glt1d1 |
T |
C |
5: 127,771,346 (GRCm39) |
V279A |
possibly damaging |
Het |
| Gm10051 |
C |
T |
5: 133,504,287 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
G |
T |
2: 21,830,025 (GRCm39) |
G690V |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Grm7 |
T |
A |
6: 111,223,335 (GRCm39) |
N458K |
probably benign |
Het |
| Hibadh |
G |
A |
6: 52,597,027 (GRCm39) |
S139L |
probably damaging |
Het |
| Hivep1 |
C |
T |
13: 42,308,906 (GRCm39) |
S382F |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,568,171 (GRCm39) |
N403D |
probably benign |
Het |
| Igkv4-81 |
A |
G |
6: 68,967,933 (GRCm39) |
L56S |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lmbr1l |
G |
T |
15: 98,807,144 (GRCm39) |
C212* |
probably null |
Het |
| Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
| Lrrc34 |
A |
G |
3: 30,685,524 (GRCm39) |
L275P |
probably damaging |
Het |
| Mgam2-ps |
T |
C |
6: 40,810,793 (GRCm39) |
|
noncoding transcript |
Het |
| Mief1 |
T |
G |
15: 80,132,160 (GRCm39) |
M77R |
possibly damaging |
Het |
| Neurod6 |
T |
C |
6: 55,656,257 (GRCm39) |
T127A |
probably damaging |
Het |
| Nif3l1 |
A |
C |
1: 58,494,738 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
T |
A |
7: 3,288,554 (GRCm39) |
T653S |
probably benign |
Het |
| Nol7 |
G |
T |
13: 43,555,051 (GRCm39) |
W228L |
probably damaging |
Het |
| Nrp1 |
G |
A |
8: 129,194,948 (GRCm39) |
R468H |
probably damaging |
Het |
| Or5ac15 |
C |
T |
16: 58,940,027 (GRCm39) |
M135I |
probably benign |
Het |
| Or7g34 |
A |
G |
9: 19,478,038 (GRCm39) |
L211P |
probably benign |
Het |
| Pbrm1 |
A |
T |
14: 30,789,663 (GRCm39) |
H785L |
probably damaging |
Het |
| Pus7 |
T |
C |
5: 23,953,864 (GRCm39) |
|
probably benign |
Het |
| Qser1 |
G |
T |
2: 104,596,404 (GRCm39) |
|
probably null |
Het |
| Rrm1 |
T |
C |
7: 102,095,800 (GRCm39) |
V51A |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 79,129,896 (GRCm39) |
N112S |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,046,909 (GRCm39) |
H52Y |
probably damaging |
Het |
| Taf1d |
T |
A |
9: 15,223,277 (GRCm39) |
|
probably benign |
Het |
| Tle1 |
ACAGGTTTCTTCAGGTTTCTT |
ACAGGTTTCTT |
4: 72,036,400 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,667,424 (GRCm39) |
Y103C |
probably damaging |
Het |
| Trim28 |
A |
T |
7: 12,763,407 (GRCm39) |
D516V |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,334,499 (GRCm39) |
N1164K |
possibly damaging |
Het |
| Vmn2r115 |
A |
G |
17: 23,564,197 (GRCm39) |
Y123C |
possibly damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zfp28 |
C |
T |
7: 6,396,441 (GRCm39) |
T292I |
probably benign |
Het |
| Zmynd8 |
A |
T |
2: 165,649,858 (GRCm39) |
|
probably null |
Het |
| Zscan4d |
A |
G |
7: 10,898,905 (GRCm39) |
V124A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACACACCATGCTGGACTTG -3'
(R):5'- GCAGATCAAAGATGCCAGC -3'
Sequencing Primer
(F):5'- GAGTACACCTGCAGTTCAGAGAC -3'
(R):5'- AGCAGGCTGGTATCCTTGCAAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation