Incidental Mutation 'IGL01061:Snx27'
| ID |
50677 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snx27
|
| Ensembl Gene |
ENSMUSG00000028136 |
| Gene Name |
sorting nexin family member 27 |
| Synonyms |
ESTM47, 5730552M22Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01061
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94404851-94490023 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 94436287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029783]
[ENSMUST00000107283]
[ENSMUST00000198426]
[ENSMUST00000199462]
[ENSMUST00000200642]
|
| AlphaFold |
Q3UHD6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029783
|
| SMART Domains |
Protein: ENSMUSP00000029783
Gene: ENSMUSG00000028136
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
38 |
N/A |
INTRINSIC |
|
PDZ
|
49 |
134 |
3.77e-19 |
SMART |
|
PX
|
154 |
263 |
7.5e-21 |
SMART |
|
Pfam:RA
|
271 |
360 |
1.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107283
|
| SMART Domains |
Protein: ENSMUSP00000102904
Gene: ENSMUSG00000028136
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
38 |
N/A |
INTRINSIC |
|
PDZ
|
49 |
134 |
3.77e-19 |
SMART |
|
PX
|
154 |
263 |
7.5e-21 |
SMART |
|
Pfam:RA
|
271 |
360 |
1.5e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196675
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198426
|
| SMART Domains |
Protein: ENSMUSP00000143525
Gene: ENSMUSG00000028136
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
1 |
93 |
5.11e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198902
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199462
|
| SMART Domains |
Protein: ENSMUSP00000143378
Gene: ENSMUSG00000028136
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
38 |
N/A |
INTRINSIC |
|
PDB:3QE1|A
|
39 |
58 |
9e-7 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200642
|
| SMART Domains |
Protein: ENSMUSP00000143066
Gene: ENSMUSG00000028136
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3QGL|E
|
12 |
42 |
3e-12 |
PDB |
|
PX
|
63 |
172 |
7.5e-21 |
SMART |
|
Pfam:RA
|
180 |
269 |
5.3e-14 |
PFAM |
|
| 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 encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal and postnatal lethality, decreased organ size, slow postnatal weight gain, and decreased endocytosis of Grin2c. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,619,686 (GRCm39) |
C186* |
probably null |
Het |
| Ankmy1 |
A |
T |
1: 92,798,696 (GRCm39) |
|
probably benign |
Het |
| B3gnt2 |
T |
A |
11: 22,786,042 (GRCm39) |
E382V |
probably damaging |
Het |
| Carmil3 |
T |
G |
14: 55,736,087 (GRCm39) |
S610A |
possibly damaging |
Het |
| Cfap70 |
T |
C |
14: 20,497,693 (GRCm39) |
|
probably benign |
Het |
| Chek1 |
G |
A |
9: 36,625,815 (GRCm39) |
R277C |
possibly damaging |
Het |
| Cpb1 |
T |
A |
3: 20,320,680 (GRCm39) |
I92L |
probably benign |
Het |
| Ddx56 |
C |
T |
11: 6,214,671 (GRCm39) |
|
probably null |
Het |
| Dicer1 |
A |
T |
12: 104,672,586 (GRCm39) |
M887K |
probably null |
Het |
| Dnajc18 |
A |
G |
18: 35,813,995 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,596,653 (GRCm39) |
V401A |
probably damaging |
Het |
| Dock4 |
A |
C |
12: 40,752,968 (GRCm39) |
N434T |
probably benign |
Het |
| Dync2i1 |
C |
A |
12: 116,193,324 (GRCm39) |
A543S |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,767,916 (GRCm39) |
M1129K |
probably benign |
Het |
| Fam83a |
A |
T |
15: 57,849,771 (GRCm39) |
Y105F |
possibly damaging |
Het |
| Fnbp1 |
C |
A |
2: 30,973,054 (GRCm39) |
D70Y |
probably damaging |
Het |
| Gtf3c2 |
A |
G |
5: 31,325,698 (GRCm39) |
F414L |
possibly damaging |
Het |
| Kndc1 |
A |
T |
7: 139,502,610 (GRCm39) |
E965D |
probably benign |
Het |
| Lrrc66 |
T |
C |
5: 73,772,842 (GRCm39) |
K209E |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,884,720 (GRCm39) |
I261N |
possibly damaging |
Het |
| Mier3 |
T |
A |
13: 111,850,970 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,234,720 (GRCm39) |
E669G |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,108,688 (GRCm39) |
M1368K |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,378,368 (GRCm39) |
I1653T |
probably damaging |
Het |
| Nuak1 |
C |
A |
10: 84,210,998 (GRCm39) |
L363F |
probably damaging |
Het |
| Or14j2 |
A |
G |
17: 37,885,795 (GRCm39) |
I173T |
possibly damaging |
Het |
| Or52b1 |
A |
G |
7: 104,978,589 (GRCm39) |
I270T |
possibly damaging |
Het |
| Or9i1 |
T |
C |
19: 13,840,069 (GRCm39) |
V304A |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,365,338 (GRCm39) |
H1153R |
probably damaging |
Het |
| Poglut3 |
A |
G |
9: 53,299,887 (GRCm39) |
|
probably benign |
Het |
| Ppp6r2 |
A |
T |
15: 89,170,218 (GRCm39) |
|
probably benign |
Het |
| Prelid3b |
T |
C |
2: 174,307,614 (GRCm39) |
|
probably null |
Het |
| Prrt3 |
T |
C |
6: 113,474,731 (GRCm39) |
K164E |
possibly damaging |
Het |
| Rab22a |
T |
A |
2: 173,530,003 (GRCm39) |
D60E |
probably damaging |
Het |
| Rab32 |
A |
G |
10: 10,433,618 (GRCm39) |
L72P |
probably damaging |
Het |
| Samm50 |
A |
G |
15: 84,086,455 (GRCm39) |
T225A |
probably benign |
Het |
| Taf7 |
G |
A |
18: 37,776,486 (GRCm39) |
T27M |
probably damaging |
Het |
| Tgm5 |
A |
T |
2: 120,901,977 (GRCm39) |
C231S |
probably benign |
Het |
| Tll1 |
A |
G |
8: 64,491,488 (GRCm39) |
|
probably null |
Het |
| Tmem150a |
A |
G |
6: 72,334,101 (GRCm39) |
D61G |
probably damaging |
Het |
| Ttll8 |
G |
A |
15: 88,801,453 (GRCm39) |
R412C |
possibly damaging |
Het |
| Ubr3 |
T |
A |
2: 69,813,569 (GRCm39) |
D1293E |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,606,566 (GRCm39) |
N1669D |
probably benign |
Het |
| Vmn2r28 |
A |
G |
7: 5,491,183 (GRCm39) |
W355R |
probably damaging |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
| Zfhx2 |
T |
A |
14: 55,311,339 (GRCm39) |
N452Y |
possibly damaging |
Het |
| Zfp180 |
T |
G |
7: 23,804,170 (GRCm39) |
D196E |
possibly damaging |
Het |
|
| Other mutations in Snx27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00534:Snx27
|
APN |
3 |
94,469,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01598:Snx27
|
APN |
3 |
94,469,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02276:Snx27
|
APN |
3 |
94,438,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02558:Snx27
|
APN |
3 |
94,410,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02748:Snx27
|
APN |
3 |
94,410,872 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02817:Snx27
|
APN |
3 |
94,410,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02965:Snx27
|
APN |
3 |
94,489,733 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0733:Snx27
|
UTSW |
3 |
94,469,320 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1241:Snx27
|
UTSW |
3 |
94,427,540 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1882:Snx27
|
UTSW |
3 |
94,426,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2517:Snx27
|
UTSW |
3 |
94,438,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3850:Snx27
|
UTSW |
3 |
94,427,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3964:Snx27
|
UTSW |
3 |
94,438,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4035:Snx27
|
UTSW |
3 |
94,431,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4172:Snx27
|
UTSW |
3 |
94,410,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4424:Snx27
|
UTSW |
3 |
94,469,330 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4425:Snx27
|
UTSW |
3 |
94,469,330 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4548:Snx27
|
UTSW |
3 |
94,433,746 (GRCm39) |
intron |
probably benign |
|
|
R4820:Snx27
|
UTSW |
3 |
94,427,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5114:Snx27
|
UTSW |
3 |
94,431,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5672:Snx27
|
UTSW |
3 |
94,410,157 (GRCm39) |
splice site |
probably null |
|
|
R5877:Snx27
|
UTSW |
3 |
94,410,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Snx27
|
UTSW |
3 |
94,436,247 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7284:Snx27
|
UTSW |
3 |
94,431,498 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7403:Snx27
|
UTSW |
3 |
94,436,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Snx27
|
UTSW |
3 |
94,410,272 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7827:Snx27
|
UTSW |
3 |
94,426,366 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9320:Snx27
|
UTSW |
3 |
94,431,593 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9326:Snx27
|
UTSW |
3 |
94,409,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9467:Snx27
|
UTSW |
3 |
94,489,723 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
X0057:Snx27
|
UTSW |
3 |
94,431,581 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Posted On |
2013-06-21 |
Incidental Mutation