Incidental Mutation 'R1645:Entrep3'
ID |
173795 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Entrep3
|
Ensembl Gene |
ENSMUSG00000032657 |
Gene Name |
endosomal transmembrane epsin interactor 3 |
Synonyms |
Fam189b, 1110013L07Rik |
MMRRC Submission |
039681-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R1645 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
89090450-89096602 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 89094154 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 322
(D322E)
|
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 |
possibly damaging
Transcript: ENSMUST00000041913
AA Change: D322E
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000039261 Gene: ENSMUSG00000032657 AA Change: D322E
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 benign
Transcript: ENSMUST00000117278
AA Change: D303E
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000113706 Gene: ENSMUSG00000032657 AA Change: D303E
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
AA Change: D244E
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000113579 Gene: ENSMUSG00000032657 AA Change: D244E
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 |
unknown
Transcript: ENSMUST00000147696
AA Change: T288K
|
SMART Domains |
Protein: ENSMUSP00000117185 Gene: ENSMUSG00000032657 AA Change: T288K
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: 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: ENSMUST00000126115
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155033
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131146
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140473
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.2%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,948,926 (GRCm39) |
M1732V |
probably benign |
Het |
Acvr1 |
A |
T |
2: 58,352,911 (GRCm39) |
C350S |
probably damaging |
Het |
Adgrl2 |
A |
T |
3: 148,571,244 (GRCm39) |
V130D |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,500,166 (GRCm39) |
|
probably null |
Het |
Asap1 |
A |
T |
15: 63,961,324 (GRCm39) |
V1116E |
probably damaging |
Het |
Bcas1 |
T |
A |
2: 170,229,087 (GRCm39) |
D308V |
probably damaging |
Het |
Brca1 |
G |
A |
11: 101,400,879 (GRCm39) |
H1468Y |
probably benign |
Het |
C2cd5 |
A |
G |
6: 142,995,852 (GRCm39) |
C421R |
probably damaging |
Het |
C4b |
A |
G |
17: 34,959,571 (GRCm39) |
S363P |
probably damaging |
Het |
Camk2b |
A |
T |
11: 5,922,719 (GRCm39) |
C484S |
probably damaging |
Het |
Cby2 |
C |
A |
14: 75,821,089 (GRCm39) |
R212L |
probably benign |
Het |
Ccny |
T |
C |
18: 9,345,199 (GRCm39) |
T192A |
probably damaging |
Het |
Chl1 |
G |
T |
6: 103,660,141 (GRCm39) |
A356S |
probably benign |
Het |
Dst |
T |
A |
1: 34,264,803 (GRCm39) |
Y4850N |
probably damaging |
Het |
Dyrk4 |
C |
A |
6: 126,871,756 (GRCm39) |
E171* |
probably null |
Het |
Ephb1 |
A |
G |
9: 101,804,758 (GRCm39) |
Y928H |
probably damaging |
Het |
Fam114a2 |
A |
T |
11: 57,390,621 (GRCm39) |
N304K |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,848,445 (GRCm39) |
D1820V |
possibly damaging |
Het |
Gabbr2 |
A |
T |
4: 46,664,963 (GRCm39) |
|
probably null |
Het |
Gm6358 |
T |
C |
16: 88,937,967 (GRCm39) |
W69R |
unknown |
Het |
Ikbkb |
C |
A |
8: 23,181,082 (GRCm39) |
S127I |
probably damaging |
Het |
Impa1 |
A |
T |
3: 10,393,501 (GRCm39) |
M48K |
possibly damaging |
Het |
Klra2 |
A |
T |
6: 131,220,857 (GRCm39) |
|
probably null |
Het |
Lama1 |
A |
T |
17: 68,044,677 (GRCm39) |
Y192F |
probably benign |
Het |
Lama2 |
T |
A |
10: 27,244,981 (GRCm39) |
T267S |
probably damaging |
Het |
Mroh7 |
G |
A |
4: 106,577,865 (GRCm39) |
T271I |
probably benign |
Het |
Myo9b |
A |
G |
8: 71,775,622 (GRCm39) |
E348G |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,824,283 (GRCm39) |
P796L |
probably damaging |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Or10al4 |
A |
T |
17: 38,037,229 (GRCm39) |
T114S |
probably benign |
Het |
Or51i1 |
A |
G |
7: 103,671,210 (GRCm39) |
F105S |
probably damaging |
Het |
Or9k7 |
T |
A |
10: 130,046,081 (GRCm39) |
D306V |
probably damaging |
Het |
P3h2 |
T |
A |
16: 25,815,982 (GRCm39) |
H177L |
probably damaging |
Het |
Pcdhb16 |
T |
C |
18: 37,612,423 (GRCm39) |
I461T |
probably benign |
Het |
Pdlim3 |
A |
G |
8: 46,349,785 (GRCm39) |
I32V |
probably benign |
Het |
Pigu |
A |
C |
2: 155,170,598 (GRCm39) |
Y143* |
probably null |
Het |
Prkd3 |
A |
C |
17: 79,263,949 (GRCm39) |
|
probably null |
Het |
Psrc1 |
C |
T |
3: 108,292,554 (GRCm39) |
R116W |
probably damaging |
Het |
Rab5b |
A |
G |
10: 128,522,695 (GRCm39) |
S29P |
possibly damaging |
Het |
Rbm26 |
A |
G |
14: 105,388,253 (GRCm39) |
V403A |
probably damaging |
Het |
Rbm47 |
G |
T |
5: 66,184,481 (GRCm39) |
R41S |
probably benign |
Het |
Rngtt |
A |
G |
4: 33,362,939 (GRCm39) |
I364M |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,733,368 (GRCm39) |
C2271* |
probably null |
Het |
Shcbp1 |
T |
A |
8: 4,799,645 (GRCm39) |
Q277L |
probably benign |
Het |
Sntg1 |
T |
C |
1: 8,874,155 (GRCm39) |
T5A |
probably benign |
Het |
Snx24 |
T |
C |
18: 53,522,634 (GRCm39) |
F163S |
probably benign |
Het |
Srp72 |
T |
C |
5: 77,146,125 (GRCm39) |
V581A |
probably benign |
Het |
Srrt |
T |
A |
5: 137,300,401 (GRCm39) |
K59* |
probably null |
Het |
Tnrc6b |
A |
G |
15: 80,767,159 (GRCm39) |
T975A |
probably damaging |
Het |
Vmn1r174 |
G |
A |
7: 23,453,777 (GRCm39) |
V148I |
possibly damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,565,192 (GRCm39) |
C360S |
possibly damaging |
Het |
Vwa8 |
A |
T |
14: 79,420,427 (GRCm39) |
Q1709H |
probably damaging |
Het |
Wdr11 |
A |
G |
7: 129,215,613 (GRCm39) |
T526A |
probably benign |
Het |
Zfp532 |
C |
A |
18: 65,820,335 (GRCm39) |
N973K |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGTGACAAAGCTGCTCTGGAATC -3'
(R):5'- CAGCAGGCATGAGTCTTCTGATGG -3'
Sequencing Primer
(F):5'- GCTCTGGAATCTCTGGTCGC -3'
(R):5'- GGGATTTCATCAGGGCAGC -3'
|
Posted On |
2014-04-24 |