Incidental Mutation 'IGL01598:Snx27'
| ID |
91732 |
| 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 # |
IGL01598
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94404851-94490023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94469150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 64
(Y64H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029783]
[ENSMUST00000107283]
[ENSMUST00000198426]
[ENSMUST00000199462]
[ENSMUST00000200642]
|
| AlphaFold |
Q3UHD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029783
AA Change: Y155H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029783
Gene: ENSMUSG00000028136
AA Change: Y155H
| 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 damaging
Transcript: ENSMUST00000107283
AA Change: Y155H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102904
Gene: ENSMUSG00000028136
AA Change: Y155H
| 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 |
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 |
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 damaging
Transcript: ENSMUST00000200642
AA Change: Y64H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143066
Gene: ENSMUSG00000028136
AA Change: Y64H
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410124H12Rik |
T |
A |
16: 92,275,817 (GRCm39) |
|
noncoding transcript |
Het |
| Apc2 |
T |
A |
10: 80,148,882 (GRCm39) |
L1283Q |
probably damaging |
Het |
| Apol6 |
G |
A |
15: 76,934,916 (GRCm39) |
A62T |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,212,110 (GRCm39) |
I204N |
possibly damaging |
Het |
| B4galnt4 |
G |
T |
7: 140,650,428 (GRCm39) |
R765L |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,415,156 (GRCm39) |
T993A |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,522,202 (GRCm38) |
|
probably null |
Het |
| Ccdc177 |
A |
G |
12: 80,805,519 (GRCm39) |
S252P |
unknown |
Het |
| Cdc73 |
A |
G |
1: 143,575,017 (GRCm39) |
S59P |
probably damaging |
Het |
| Cep63 |
G |
T |
9: 102,467,657 (GRCm39) |
Q570K |
possibly damaging |
Het |
| Ces1c |
A |
T |
8: 93,845,041 (GRCm39) |
I120K |
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,011,549 (GRCm39) |
M131V |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,624,562 (GRCm39) |
V3701I |
probably damaging |
Het |
| Fxr1 |
T |
C |
3: 34,118,381 (GRCm39) |
S535P |
possibly damaging |
Het |
| Gldc |
A |
T |
19: 30,111,156 (GRCm39) |
V540D |
probably damaging |
Het |
| Iqcf6 |
A |
G |
9: 106,504,707 (GRCm39) |
T124A |
probably benign |
Het |
| Itih4 |
A |
G |
14: 30,609,774 (GRCm39) |
I35V |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,478,664 (GRCm39) |
*1525W |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,559,769 (GRCm39) |
V963E |
probably damaging |
Het |
| Lmnb2 |
T |
C |
10: 80,742,999 (GRCm39) |
S202G |
probably benign |
Het |
| Med23 |
T |
G |
10: 24,779,696 (GRCm39) |
S924R |
probably benign |
Het |
| Or5b102 |
T |
C |
19: 13,041,513 (GRCm39) |
V246A |
probably damaging |
Het |
| Pcif1 |
T |
C |
2: 164,728,531 (GRCm39) |
F263L |
possibly damaging |
Het |
| Pon2 |
A |
T |
6: 5,272,331 (GRCm39) |
L163H |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,132,829 (GRCm39) |
V165M |
possibly damaging |
Het |
| Sema6d |
C |
A |
2: 124,507,018 (GRCm39) |
P961Q |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,717,672 (GRCm39) |
|
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,462,510 (GRCm39) |
V193A |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,408,017 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,743,471 (GRCm39) |
T4137A |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,283 (GRCm39) |
Y251C |
probably 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 |
|
IGL01061:Snx27
|
APN |
3 |
94,436,287 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-12-09 |
Incidental Mutation