Incidental Mutation 'R8553:Entrep3'
| ID |
659956 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8553 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89090450-89096602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 89094153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 322
(D322A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000041913
AA Change: D322A
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039261
Gene: ENSMUSG00000032657
AA Change: D322A
| 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: D303A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000113706
Gene: ENSMUSG00000032657
AA Change: D303A
| 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: D244A
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113579
Gene: ENSMUSG00000032657
AA Change: D244A
| 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 |
unknown
Transcript: ENSMUST00000147696
AA Change: T288P
|
| SMART Domains |
Protein: ENSMUSP00000117185
Gene: ENSMUSG00000032657
AA Change: T288P
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
G |
4: 123,754,327 (GRCm39) |
I80M |
probably benign |
Het |
| Acsbg3 |
T |
A |
17: 57,188,021 (GRCm39) |
D176E |
probably benign |
Het |
| Aga |
G |
A |
8: 53,973,367 (GRCm39) |
R255H |
probably damaging |
Het |
| Anapc1 |
G |
A |
2: 128,461,833 (GRCm39) |
P1757L |
possibly damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,479,278 (GRCm39) |
I1446L |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,468,981 (GRCm39) |
T779A |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,019,540 (GRCm39) |
S778P |
possibly damaging |
Het |
| Cep164 |
A |
T |
9: 45,718,508 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,230,304 (GRCm39) |
T1595A |
probably benign |
Het |
| Csmd3 |
G |
T |
15: 47,484,724 (GRCm39) |
T3214K |
possibly damaging |
Het |
| Dpy30 |
A |
G |
17: 74,622,913 (GRCm39) |
L23P |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,252,047 (GRCm39) |
E391G |
possibly damaging |
Het |
| Egflam |
A |
T |
15: 7,237,229 (GRCm39) |
V985E |
probably damaging |
Het |
| Elmo3 |
T |
C |
8: 106,033,810 (GRCm39) |
V201A |
probably benign |
Het |
| Epb41l5 |
T |
A |
1: 119,477,671 (GRCm39) |
D700V |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,947,847 (GRCm39) |
S467P |
probably damaging |
Het |
| Eya4 |
G |
A |
10: 22,982,157 (GRCm39) |
H601Y |
probably damaging |
Het |
| Fancm |
A |
C |
12: 65,173,469 (GRCm39) |
N1927T |
possibly damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,912,944 (GRCm39) |
T248A |
probably benign |
Het |
| Gm29106 |
T |
A |
1: 118,128,149 (GRCm39) |
C614S |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,773,328 (GRCm39) |
T249A |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,491,661 (GRCm39) |
S3700P |
possibly damaging |
Het |
| Hr |
T |
C |
14: 70,804,965 (GRCm39) |
L950P |
probably damaging |
Het |
| Hsd3b3 |
T |
A |
3: 98,651,205 (GRCm39) |
T82S |
possibly damaging |
Het |
| Ifit2 |
C |
A |
19: 34,550,538 (GRCm39) |
A26E |
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,244,739 (GRCm39) |
D902G |
probably damaging |
Het |
| Itga4 |
G |
A |
2: 79,131,405 (GRCm39) |
R591Q |
probably damaging |
Het |
| Kcnb1 |
A |
T |
2: 166,946,531 (GRCm39) |
S772R |
possibly damaging |
Het |
| Klhl32 |
T |
A |
4: 24,629,343 (GRCm39) |
I213L |
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,347 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
T |
A |
17: 71,538,232 (GRCm39) |
S293T |
probably damaging |
Het |
| Magi2 |
T |
C |
5: 20,856,198 (GRCm39) |
F840S |
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,439,344 (GRCm39) |
E289K |
possibly damaging |
Het |
| Ndst4 |
A |
G |
3: 125,503,756 (GRCm39) |
S8G |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,343,252 (GRCm39) |
D109G |
possibly damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,570,687 (GRCm39) |
A611V |
probably damaging |
Het |
| Pcif1 |
A |
T |
2: 164,728,417 (GRCm39) |
I225F |
probably damaging |
Het |
| Peli3 |
A |
G |
19: 4,984,960 (GRCm39) |
F150L |
probably damaging |
Het |
| Qng1 |
G |
A |
13: 58,532,694 (GRCm39) |
T92M |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,519,086 (GRCm39) |
T263A |
probably damaging |
Het |
| Rpn1 |
A |
G |
6: 88,072,539 (GRCm39) |
Y294C |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,416,508 (GRCm39) |
S605T |
probably benign |
Het |
| Sec23ip |
A |
C |
7: 128,355,777 (GRCm39) |
Q300P |
probably damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,635,925 (GRCm39) |
T98A |
probably damaging |
Het |
| Siah3 |
T |
A |
14: 75,763,067 (GRCm39) |
I106K |
probably benign |
Het |
| Spns2 |
C |
T |
11: 72,348,053 (GRCm39) |
D305N |
probably damaging |
Het |
| Sult1a1 |
G |
T |
7: 126,273,333 (GRCm39) |
Q177K |
probably benign |
Het |
| Tas2r109 |
A |
G |
6: 132,957,171 (GRCm39) |
I253T |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,964,643 (GRCm39) |
D661G |
possibly damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,831,584 (GRCm39) |
N325S |
probably damaging |
Het |
| Tfcp2l1 |
C |
A |
1: 118,560,082 (GRCm39) |
A58E |
probably damaging |
Het |
| Wdcp |
T |
C |
12: 4,902,024 (GRCm39) |
|
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 |
|
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 |
|
|
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'- AAAGCTGCTCTGGAATCTCTGG -3'
(R):5'- AGTCTTCTGATGGGCTAGAGC -3'
Sequencing Primer
(F):5'- CTGGAATCTCTGGTCGCC -3'
(R):5'- ATTTCATCAGGGCAGCTGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation