Incidental Mutation 'IGL01382:Entrep3'
| ID |
78917 |
| 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 # |
IGL01382
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89090450-89096602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89095733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 596
(S596P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041913]
[ENSMUST00000117278]
[ENSMUST00000119707]
[ENSMUST00000127982]
[ENSMUST00000147696]
[ENSMUST00000140473]
|
| AlphaFold |
Q5HZJ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041913
AA Change: S596P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000039261
Gene: ENSMUSG00000032657
AA Change: S596P
| 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 damaging
Transcript: ENSMUST00000117278
AA Change: S577P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113706
Gene: ENSMUSG00000032657
AA Change: S577P
| 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: S518P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113579
Gene: ENSMUSG00000032657
AA Change: S518P
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
G |
T |
5: 142,458,006 (GRCm39) |
R393L |
probably benign |
Het |
| Arhgap21 |
G |
T |
2: 20,860,511 (GRCm39) |
P1128T |
probably damaging |
Het |
| Atp12a |
T |
G |
14: 56,617,412 (GRCm39) |
C567W |
probably damaging |
Het |
| Bcat2 |
C |
A |
7: 45,237,684 (GRCm39) |
R312S |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,356,684 (GRCm39) |
T151S |
probably damaging |
Het |
| Chid1 |
G |
A |
7: 141,110,166 (GRCm39) |
T53M |
probably damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,784,925 (GRCm39) |
D272G |
probably benign |
Het |
| Ephx4 |
A |
G |
5: 107,577,585 (GRCm39) |
E303G |
probably damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Gm9843 |
A |
T |
16: 76,200,460 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1l |
T |
C |
16: 18,362,950 (GRCm39) |
F11S |
probably damaging |
Het |
| Ipmk |
C |
T |
10: 71,212,596 (GRCm39) |
T186M |
probably damaging |
Het |
| Jph1 |
T |
C |
1: 17,086,380 (GRCm39) |
T381A |
probably damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,099,211 (GRCm39) |
I163K |
probably damaging |
Het |
| Kif18a |
T |
A |
2: 109,127,111 (GRCm39) |
Y348* |
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,389,581 (GRCm39) |
D1948V |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,864 (GRCm39) |
I83T |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,192,799 (GRCm39) |
E1530V |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,364 (GRCm39) |
E720K |
possibly damaging |
Het |
| Ncor2 |
T |
A |
5: 125,132,837 (GRCm39) |
Q50L |
probably damaging |
Het |
| Or5p70 |
G |
A |
7: 107,994,452 (GRCm39) |
V42M |
probably benign |
Het |
| Or9s15 |
A |
G |
1: 92,524,922 (GRCm39) |
Y227C |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,937,488 (GRCm39) |
M1575K |
probably damaging |
Het |
| Ptprg |
T |
G |
14: 12,237,797 (GRCm38) |
M643R |
probably benign |
Het |
| Reck |
T |
A |
4: 43,940,662 (GRCm39) |
C824S |
probably damaging |
Het |
| Rpgrip1 |
C |
T |
14: 52,382,934 (GRCm39) |
T689I |
possibly damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,072,161 (GRCm39) |
S358T |
probably benign |
Het |
| Sec14l3 |
G |
T |
11: 4,018,104 (GRCm39) |
C128F |
probably damaging |
Het |
| Serpinf2 |
C |
T |
11: 75,328,863 (GRCm39) |
|
probably benign |
Het |
| Sez6l |
C |
T |
5: 112,573,487 (GRCm39) |
V842I |
probably benign |
Het |
| Tm6sf2 |
A |
G |
8: 70,531,018 (GRCm39) |
Y257C |
probably damaging |
Het |
| Tmpo |
T |
C |
10: 91,001,912 (GRCm39) |
D99G |
probably damaging |
Het |
| Tulp3 |
A |
C |
6: 128,302,033 (GRCm39) |
N329K |
probably damaging |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,708 (GRCm39) |
D184V |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,763,938 (GRCm39) |
T272A |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,533,578 (GRCm39) |
L494* |
probably null |
Het |
| Wdr18 |
T |
C |
10: 79,801,106 (GRCm39) |
L173P |
probably damaging |
Het |
| Zfp663 |
T |
A |
2: 165,200,935 (GRCm39) |
Y33F |
probably damaging |
Het |
| Zmiz2 |
T |
A |
11: 6,353,781 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Entrep3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-11-05 |
Incidental Mutation