Incidental Mutation 'IGL02748:Snx27'
| ID |
306152 |
| 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 # |
IGL02748
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94404851-94490023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94410872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 426
(I426N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029783]
[ENSMUST00000107283]
[ENSMUST00000199462]
[ENSMUST00000200642]
|
| AlphaFold |
Q3UHD6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029783
AA Change: I426N
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000029783
Gene: ENSMUSG00000028136
AA Change: I426N
| 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
AA Change: I426N
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000102904
Gene: ENSMUSG00000028136
AA Change: I426N
| 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: ENSMUST00000196251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196675
|
| 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
AA Change: I335N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000143066
Gene: ENSMUSG00000028136
AA Change: I335N
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baiap2l1 |
T |
A |
5: 144,203,415 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,553,271 (GRCm39) |
N397S |
possibly damaging |
Het |
| Crlf3 |
A |
G |
11: 79,950,145 (GRCm39) |
S162P |
probably damaging |
Het |
| Dctn2 |
C |
T |
10: 127,113,142 (GRCm39) |
R231C |
probably damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,421,589 (GRCm39) |
|
probably benign |
Het |
| Efcab12 |
T |
A |
6: 115,797,063 (GRCm39) |
T364S |
probably damaging |
Het |
| Eps8l3 |
A |
G |
3: 107,786,684 (GRCm39) |
|
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,535,173 (GRCm39) |
L92P |
probably damaging |
Het |
| Fbxw15 |
A |
G |
9: 109,387,278 (GRCm39) |
I239T |
possibly damaging |
Het |
| Fndc4 |
T |
C |
5: 31,452,130 (GRCm39) |
T96A |
possibly damaging |
Het |
| Gcn1 |
G |
A |
5: 115,748,859 (GRCm39) |
|
probably null |
Het |
| Ifna13 |
A |
G |
4: 88,562,097 (GRCm39) |
S176P |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,903,728 (GRCm39) |
H56R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,592,761 (GRCm39) |
D3786G |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,337,082 (GRCm39) |
V1339E |
probably damaging |
Het |
| Mthfd1l |
T |
C |
10: 3,968,587 (GRCm39) |
V414A |
possibly damaging |
Het |
| Mthfd1l |
T |
G |
10: 3,930,268 (GRCm39) |
|
probably null |
Het |
| Or10ag56 |
T |
A |
2: 87,140,009 (GRCm39) |
L312Q |
probably damaging |
Het |
| Or5an1c |
A |
G |
19: 12,218,204 (GRCm39) |
F274L |
probably benign |
Het |
| Or6b3 |
A |
G |
1: 92,439,189 (GRCm39) |
L187P |
probably damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,273 (GRCm39) |
S502P |
probably damaging |
Het |
| Pde5a |
T |
A |
3: 122,554,541 (GRCm39) |
N242K |
probably damaging |
Het |
| Pik3cb |
A |
T |
9: 98,945,021 (GRCm39) |
|
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,198 (GRCm39) |
M729V |
probably damaging |
Het |
| Rai14 |
A |
G |
15: 10,589,421 (GRCm39) |
V259A |
probably benign |
Het |
| Rassf4 |
T |
C |
6: 116,616,418 (GRCm39) |
I298V |
possibly damaging |
Het |
| Senp7 |
C |
T |
16: 56,006,457 (GRCm39) |
T927M |
probably damaging |
Het |
| Syce1l |
A |
T |
8: 114,382,097 (GRCm39) |
|
probably benign |
Het |
| Tmem18 |
T |
C |
12: 30,638,744 (GRCm39) |
*141Q |
probably null |
Het |
| Tnrc6c |
T |
C |
11: 117,622,996 (GRCm39) |
S1006P |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,653,157 (GRCm39) |
T308A |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,793,057 (GRCm39) |
C795S |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,096,010 (GRCm39) |
S143P |
probably benign |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation