Incidental Mutation 'R4425:Snx27'
ID |
470084 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx27
|
Ensembl Gene |
ENSMUSG00000028136 |
Gene Name |
sorting nexin family member 27 |
Synonyms |
ESTM47, 5730552M22Rik |
MMRRC Submission |
041144-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4425 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
94404851-94490023 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94469330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 4
(F4L)
|
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 |
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 benign
Transcript: ENSMUST00000200642
AA Change: F4L
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000143066 Gene: ENSMUSG00000028136 AA Change: F4L
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: 95.3%
|
Validation Efficiency |
98% (55/56) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
T |
C |
11: 94,236,870 (GRCm39) |
T1456A |
probably damaging |
Het |
Acad11 |
T |
C |
9: 103,950,844 (GRCm39) |
F56S |
probably damaging |
Het |
Adamts8 |
A |
G |
9: 30,867,952 (GRCm39) |
N592S |
possibly damaging |
Het |
Amh |
A |
G |
10: 80,642,755 (GRCm39) |
D313G |
probably damaging |
Het |
Ampd2 |
T |
C |
3: 107,994,052 (GRCm39) |
|
probably benign |
Het |
Arap3 |
A |
G |
18: 38,111,653 (GRCm39) |
L1115P |
probably damaging |
Het |
Arfgap1 |
C |
A |
2: 180,622,869 (GRCm39) |
D327E |
probably benign |
Het |
Capns2 |
T |
A |
8: 93,628,252 (GRCm39) |
I47N |
possibly damaging |
Het |
Cd163 |
T |
C |
6: 124,304,862 (GRCm39) |
S1080P |
possibly damaging |
Het |
Ceacam10 |
A |
T |
7: 24,480,433 (GRCm39) |
Y68F |
possibly damaging |
Het |
Cep44 |
G |
A |
8: 56,991,652 (GRCm39) |
P317S |
probably benign |
Het |
Cfh |
A |
T |
1: 140,028,613 (GRCm39) |
Y688* |
probably null |
Het |
Chrnb1 |
A |
T |
11: 69,677,773 (GRCm39) |
S326R |
probably damaging |
Het |
Cngb1 |
C |
T |
8: 96,026,344 (GRCm39) |
V25M |
probably damaging |
Het |
Cyp2c50 |
A |
T |
19: 40,079,136 (GRCm39) |
N160Y |
possibly damaging |
Het |
Dalrd3 |
T |
C |
9: 108,448,800 (GRCm39) |
|
probably benign |
Het |
Eef1d |
C |
A |
15: 75,774,648 (GRCm39) |
S253I |
possibly damaging |
Het |
Efl1 |
G |
A |
7: 82,412,491 (GRCm39) |
C960Y |
probably damaging |
Het |
Elmo1 |
C |
G |
13: 20,784,382 (GRCm39) |
Y646* |
probably null |
Het |
Epb41l2 |
C |
A |
10: 25,382,078 (GRCm39) |
D701E |
possibly damaging |
Het |
Fbxl4 |
T |
A |
4: 22,422,699 (GRCm39) |
|
probably null |
Het |
Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
Igkv10-95 |
A |
T |
6: 68,657,606 (GRCm39) |
I21F |
probably damaging |
Het |
Il10rb |
C |
A |
16: 91,204,603 (GRCm39) |
N51K |
possibly damaging |
Het |
Krt78 |
T |
C |
15: 101,856,375 (GRCm39) |
T479A |
probably benign |
Het |
Lrig3 |
T |
C |
10: 125,849,273 (GRCm39) |
S998P |
probably benign |
Het |
Lrrc8c |
T |
A |
5: 105,755,755 (GRCm39) |
M510K |
probably benign |
Het |
Nfrkb |
G |
T |
9: 31,311,258 (GRCm39) |
C369F |
probably damaging |
Het |
Nphp1 |
T |
C |
2: 127,630,719 (GRCm39) |
E19G |
possibly damaging |
Het |
Or10a5 |
A |
C |
7: 106,635,698 (GRCm39) |
E112A |
probably damaging |
Het |
Or4f14b |
T |
C |
2: 111,775,534 (GRCm39) |
H89R |
probably benign |
Het |
Ovol3 |
A |
T |
7: 29,934,789 (GRCm39) |
|
probably null |
Het |
Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
Rims2 |
T |
C |
15: 39,301,320 (GRCm39) |
|
probably null |
Het |
Sh3rf3 |
T |
C |
10: 58,919,398 (GRCm39) |
V505A |
probably benign |
Het |
Shkbp1 |
T |
C |
7: 27,042,727 (GRCm39) |
N570S |
probably benign |
Het |
Slc35f4 |
C |
T |
14: 49,556,307 (GRCm39) |
V149I |
possibly damaging |
Het |
Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
Tagap1 |
G |
A |
17: 7,223,511 (GRCm39) |
S395L |
probably benign |
Het |
Tcstv2b |
C |
A |
13: 120,373,908 (GRCm39) |
L127F |
probably damaging |
Het |
Tek |
A |
G |
4: 94,751,904 (GRCm39) |
T1014A |
probably damaging |
Het |
Top2a |
A |
G |
11: 98,892,231 (GRCm39) |
I1077T |
probably benign |
Het |
Tpo |
T |
C |
12: 30,154,015 (GRCm39) |
Y230C |
probably damaging |
Het |
Trav12-2 |
A |
G |
14: 53,854,332 (GRCm39) |
Q102R |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,733,430 (GRCm39) |
|
probably benign |
Het |
Vmn1r183 |
A |
T |
7: 23,754,973 (GRCm39) |
I259F |
probably benign |
Het |
Vmn1r228 |
T |
C |
17: 20,996,861 (GRCm39) |
E219G |
probably damaging |
Het |
Vsig8 |
G |
T |
1: 172,390,714 (GRCm39) |
G254V |
probably damaging |
Het |
Vwa8 |
A |
G |
14: 79,320,246 (GRCm39) |
I1086V |
probably benign |
Het |
Zfp423 |
G |
A |
8: 88,509,601 (GRCm39) |
H123Y |
probably damaging |
Het |
Zfp811 |
A |
T |
17: 33,016,521 (GRCm39) |
C506* |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2017-03-06 |