Incidental Mutation 'R4548:Snx27'
ID |
470209 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx27
|
Ensembl Gene |
ENSMUSG00000028136 |
Gene Name |
sorting nexin family member 27 |
Synonyms |
ESTM47, 5730552M22Rik |
MMRRC Submission |
041594-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4548 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
94404851-94490023 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
C to T
at 94433746 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: 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
T |
17: 24,553,245 (GRCm39) |
F155L |
possibly damaging |
Het |
Adcy6 |
A |
G |
15: 98,496,540 (GRCm39) |
I545T |
probably damaging |
Het |
Afg2a |
T |
A |
3: 37,486,176 (GRCm39) |
N299K |
probably benign |
Het |
Akip1 |
C |
A |
7: 109,304,193 (GRCm39) |
S90* |
probably null |
Het |
Anln |
T |
C |
9: 22,274,184 (GRCm39) |
D551G |
possibly damaging |
Het |
Arhgef17 |
T |
C |
7: 100,580,336 (GRCm39) |
Q204R |
possibly damaging |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Bcl2l11 |
A |
G |
2: 127,971,566 (GRCm39) |
E75G |
probably benign |
Het |
Cfap45 |
A |
G |
1: 172,372,675 (GRCm39) |
I457V |
probably benign |
Het |
Cfap65 |
G |
A |
1: 74,946,771 (GRCm39) |
T1313I |
probably damaging |
Het |
Cntln |
C |
A |
4: 85,015,079 (GRCm39) |
H1123Q |
probably benign |
Het |
Cops3 |
C |
T |
11: 59,718,671 (GRCm39) |
|
probably null |
Het |
Dis3l2 |
A |
T |
1: 86,977,393 (GRCm39) |
T861S |
probably benign |
Het |
Dnajc11 |
A |
G |
4: 152,058,074 (GRCm39) |
N281S |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
Fras1 |
A |
G |
5: 96,857,754 (GRCm39) |
D2016G |
probably benign |
Het |
Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,749,676 (GRCm39) |
D1050G |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,899,875 (GRCm39) |
F48S |
probably damaging |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Mrm2 |
T |
C |
5: 140,314,251 (GRCm39) |
T195A |
probably benign |
Het |
Myzap |
T |
C |
9: 71,457,528 (GRCm39) |
E289G |
possibly damaging |
Het |
Nemp1 |
A |
G |
10: 127,532,213 (GRCm39) |
E373G |
probably benign |
Het |
Or13c7 |
T |
A |
4: 43,854,834 (GRCm39) |
I175N |
probably damaging |
Het |
Or8h10 |
T |
C |
2: 86,809,014 (GRCm39) |
N42S |
probably damaging |
Het |
Polr1c |
A |
T |
17: 46,558,735 (GRCm39) |
|
probably null |
Het |
Rev1 |
A |
G |
1: 38,098,275 (GRCm39) |
M756T |
possibly damaging |
Het |
Sacs |
A |
G |
14: 61,429,387 (GRCm39) |
D482G |
probably damaging |
Het |
Sfrp4 |
A |
G |
13: 19,807,936 (GRCm39) |
M112V |
possibly damaging |
Het |
Slc7a4 |
T |
C |
16: 17,393,209 (GRCm39) |
T197A |
probably benign |
Het |
Speer2 |
T |
C |
16: 69,655,737 (GRCm39) |
K30E |
probably damaging |
Het |
Ssh2 |
G |
A |
11: 77,341,010 (GRCm39) |
A721T |
probably benign |
Het |
Trappc3 |
A |
G |
4: 126,166,544 (GRCm39) |
D39G |
possibly damaging |
Het |
Ttc28 |
G |
A |
5: 111,419,090 (GRCm39) |
S1362N |
possibly damaging |
Het |
Ugt2b35 |
A |
T |
5: 87,156,134 (GRCm39) |
K409* |
probably null |
Het |
Vmn2r92 |
A |
T |
17: 18,391,578 (GRCm39) |
M527L |
probably benign |
Het |
Zbed5 |
T |
A |
5: 129,931,692 (GRCm39) |
L547* |
probably null |
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 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2017-03-07 |