Incidental Mutation 'R8201:Entrep3'
ID |
635660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Entrep3
|
Ensembl Gene |
ENSMUSG00000032657 |
Gene Name |
endosomal transmembrane epsin interactor 3 |
Synonyms |
Fam189b, 1110013L07Rik |
MMRRC Submission |
067624-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R8201 (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 C
at 89093115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 291
(V291A)
|
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: V291A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000039261 Gene: ENSMUSG00000032657 AA Change: V291A
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: V272A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113706 Gene: ENSMUSG00000032657 AA Change: V272A
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: V213A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113579 Gene: ENSMUSG00000032657 AA Change: V213A
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 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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
T |
C |
3: 124,195,046 (GRCm39) |
E543G |
probably benign |
Het |
2210408I21Rik |
T |
A |
13: 77,341,278 (GRCm39) |
N302K |
possibly damaging |
Het |
Apbb2 |
T |
C |
5: 66,466,458 (GRCm39) |
N609S |
probably benign |
Het |
Atp10a |
G |
T |
7: 58,469,424 (GRCm39) |
G1092* |
probably null |
Het |
Ccdc150 |
A |
G |
1: 54,368,646 (GRCm39) |
N618S |
probably benign |
Het |
Cct4 |
T |
A |
11: 22,949,115 (GRCm39) |
V287E |
probably damaging |
Het |
Cyp2j7 |
A |
T |
4: 96,083,564 (GRCm39) |
I462N |
probably damaging |
Het |
Dnajc6 |
C |
T |
4: 101,475,960 (GRCm39) |
A611V |
probably benign |
Het |
Dusp10 |
C |
A |
1: 183,769,202 (GRCm39) |
A56E |
possibly damaging |
Het |
Fat3 |
A |
C |
9: 15,908,773 (GRCm39) |
C2410G |
possibly damaging |
Het |
Fcgrt |
T |
A |
7: 44,744,634 (GRCm39) |
Q274L |
possibly damaging |
Het |
Fdxacb1 |
G |
T |
9: 50,681,455 (GRCm39) |
|
probably benign |
Het |
Fubp1 |
T |
A |
3: 151,927,823 (GRCm39) |
I424N |
probably damaging |
Het |
Gm5114 |
T |
A |
7: 39,060,373 (GRCm39) |
T159S |
probably damaging |
Het |
Gm7168 |
T |
C |
17: 14,170,042 (GRCm39) |
C470R |
probably benign |
Het |
Hebp1 |
A |
G |
6: 135,114,906 (GRCm39) |
V185A |
possibly damaging |
Het |
Il18rap |
G |
T |
1: 40,578,429 (GRCm39) |
R280I |
possibly damaging |
Het |
Mamdc4 |
T |
C |
2: 25,456,093 (GRCm39) |
N771S |
probably damaging |
Het |
Ndufaf4 |
A |
G |
4: 24,898,197 (GRCm39) |
N11D |
possibly damaging |
Het |
Nkiras1 |
T |
C |
14: 18,276,908 (GRCm38) |
|
probably benign |
Het |
Noct |
T |
C |
3: 51,155,444 (GRCm39) |
S135P |
probably benign |
Het |
Or1e23 |
T |
A |
11: 73,407,899 (GRCm39) |
N42I |
probably damaging |
Het |
Or2t48 |
A |
T |
11: 58,419,865 (GRCm39) |
*316R |
noncoding transcript |
Het |
Or2w3b |
A |
C |
11: 58,623,940 (GRCm39) |
F17C |
probably damaging |
Het |
Or7e177 |
G |
T |
9: 20,212,317 (GRCm39) |
G271C |
probably damaging |
Het |
Or7e178 |
T |
C |
9: 20,225,908 (GRCm39) |
M103V |
probably benign |
Het |
Pcdhac1 |
A |
T |
18: 37,223,892 (GRCm39) |
H235L |
probably benign |
Het |
Pcdhb22 |
G |
T |
18: 37,651,518 (GRCm39) |
|
probably benign |
Het |
Pdlim1 |
A |
T |
19: 40,218,958 (GRCm39) |
D224E |
probably benign |
Het |
Plpp3 |
G |
T |
4: 105,076,555 (GRCm39) |
G223W |
probably damaging |
Het |
Rcan3 |
A |
G |
4: 135,147,684 (GRCm39) |
F81S |
probably damaging |
Het |
Sel1l2 |
A |
C |
2: 140,108,312 (GRCm39) |
Y191D |
probably damaging |
Het |
Supt16 |
A |
G |
14: 52,408,447 (GRCm39) |
F833L |
probably damaging |
Het |
Tchh |
T |
C |
3: 93,350,781 (GRCm39) |
F74L |
probably damaging |
Het |
Tgfbr3 |
T |
C |
5: 107,278,431 (GRCm39) |
D725G |
probably benign |
Het |
Tmem14c |
C |
T |
13: 41,171,186 (GRCm39) |
P10S |
probably benign |
Het |
Ubb |
G |
A |
11: 62,443,053 (GRCm39) |
A28T |
probably benign |
Het |
Vars2 |
A |
T |
17: 35,969,202 (GRCm39) |
V833E |
probably benign |
Het |
Zfyve9 |
T |
C |
4: 108,507,474 (GRCm39) |
D528G |
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 |
|
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 |
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'- TGCACAAAGGTAAGGCTGGA -3'
(R):5'- GGGGCATCAGTTTCCATATCTTT -3'
Sequencing Primer
(F):5'- CAAAGGTAAGGCTGGAGGTGG -3'
(R):5'- GTCAGATCTCATTACAGGTGAGCC -3'
|
Posted On |
2020-07-13 |