Incidental Mutation 'R1241:Snx27'
| ID |
151982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx27
|
| Ensembl Gene |
ENSMUSG00000028136 |
| Gene Name |
sorting nexin family member 27 |
| Synonyms |
ESTM47, 5730552M22Rik |
| MMRRC Submission |
039308-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1241 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94404851-94490023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94427540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 312
(T312A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029783]
[ENSMUST00000107283]
[ENSMUST00000198426]
[ENSMUST00000199462]
[ENSMUST00000200642]
|
| AlphaFold |
Q3UHD6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029783
AA Change: T312A
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000029783
Gene: ENSMUSG00000028136
AA Change: T312A
| 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: T312A
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102904
Gene: ENSMUSG00000028136
AA Change: T312A
| 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: 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: T221A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143066
Gene: ENSMUSG00000028136
AA Change: T221A
| 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 |
|
| Meta Mutation Damage Score |
0.1469 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| 9030619P08Rik |
A |
C |
15: 75,301,846 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh1l2 |
T |
C |
10: 83,331,889 (GRCm39) |
I639V |
probably benign |
Het |
| Ambra1 |
T |
C |
2: 91,601,241 (GRCm39) |
|
probably benign |
Het |
| Ap5z1 |
T |
C |
5: 142,455,869 (GRCm39) |
Y299H |
probably damaging |
Het |
| Atp6v1b1 |
A |
T |
6: 83,733,526 (GRCm39) |
|
probably benign |
Het |
| Atr |
G |
A |
9: 95,832,689 (GRCm39) |
V2574I |
probably benign |
Het |
| Atxn1l |
T |
A |
8: 110,459,612 (GRCm39) |
T217S |
probably benign |
Het |
| Ccdc85a |
A |
G |
11: 28,346,150 (GRCm39) |
S89P |
probably benign |
Het |
| Ccn5 |
T |
A |
2: 163,670,997 (GRCm39) |
M168K |
unknown |
Het |
| Cd209e |
A |
T |
8: 3,899,124 (GRCm39) |
I196N |
probably damaging |
Het |
| Cdhr4 |
A |
G |
9: 107,872,495 (GRCm39) |
S247G |
probably benign |
Het |
| Cntn6 |
A |
T |
6: 104,809,470 (GRCm39) |
I502F |
probably damaging |
Het |
| Crisp4 |
T |
C |
1: 18,193,018 (GRCm39) |
Y233C |
probably damaging |
Het |
| Ctsb |
C |
A |
14: 63,376,553 (GRCm39) |
T261N |
probably benign |
Het |
| Ctsk |
T |
C |
3: 95,408,185 (GRCm39) |
F14L |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,407,385 (GRCm39) |
I2110V |
probably damaging |
Het |
| Dennd5b |
A |
G |
6: 148,969,988 (GRCm39) |
M155T |
probably benign |
Het |
| Echdc3 |
T |
C |
2: 6,217,611 (GRCm39) |
D54G |
probably benign |
Het |
| Egln3 |
G |
A |
12: 54,228,479 (GRCm39) |
T209I |
probably damaging |
Het |
| Fbn1 |
A |
C |
2: 125,214,447 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
A |
T |
4: 62,222,846 (GRCm39) |
S1018T |
possibly damaging |
Het |
| Flnb |
T |
C |
14: 7,896,503 (GRCm38) |
I898T |
probably benign |
Het |
| Flt1 |
T |
A |
5: 147,536,456 (GRCm39) |
Y795F |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
C |
5: 73,267,614 (GRCm39) |
E417G |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,268 (GRCm39) |
|
probably benign |
Het |
| Gcnt3 |
T |
C |
9: 69,941,615 (GRCm39) |
I318V |
probably benign |
Het |
| Gm11437 |
T |
A |
11: 84,055,454 (GRCm39) |
H54L |
possibly damaging |
Het |
| Huwe1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
X: 150,690,044 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
G |
A |
13: 45,038,368 (GRCm39) |
|
probably benign |
Het |
| Kif5b |
A |
T |
18: 6,214,044 (GRCm39) |
V653E |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,274,365 (GRCm39) |
V2113A |
probably damaging |
Het |
| Knl1 |
C |
T |
2: 118,903,054 (GRCm39) |
T1585I |
probably benign |
Het |
| Mlxipl |
T |
A |
5: 135,161,572 (GRCm39) |
M497K |
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,710,935 (GRCm39) |
W210R |
probably damaging |
Het |
| Mrps22 |
A |
G |
9: 98,476,748 (GRCm39) |
V207A |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,390,256 (GRCm39) |
I2111V |
possibly damaging |
Het |
| Myo1a |
C |
T |
10: 127,555,148 (GRCm39) |
P838L |
probably benign |
Het |
| Nbea |
T |
A |
3: 55,965,461 (GRCm39) |
H484L |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,331,430 (GRCm39) |
D322V |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,636,947 (GRCm39) |
C1057R |
probably damaging |
Het |
| Ntsr1 |
T |
C |
2: 180,142,394 (GRCm39) |
S62P |
probably damaging |
Het |
| Nudt18 |
A |
G |
14: 70,816,867 (GRCm39) |
H157R |
probably benign |
Het |
| Or10s1 |
C |
A |
9: 39,986,192 (GRCm39) |
N200K |
probably damaging |
Het |
| Or5g25 |
T |
A |
2: 85,477,904 (GRCm39) |
T254S |
probably damaging |
Het |
| Sidt2 |
T |
C |
9: 45,857,002 (GRCm39) |
T435A |
probably damaging |
Het |
| Srebf2 |
T |
C |
15: 82,061,720 (GRCm39) |
S429P |
probably damaging |
Het |
| Suclg2 |
A |
G |
6: 95,474,563 (GRCm39) |
|
probably benign |
Het |
| Tchh |
A |
T |
3: 93,352,279 (GRCm39) |
E573V |
unknown |
Het |
| Tdrd1 |
A |
G |
19: 56,850,192 (GRCm39) |
T985A |
probably benign |
Het |
| Ttc7b |
A |
G |
12: 100,369,698 (GRCm39) |
I357T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,626,008 (GRCm39) |
E13271G |
probably damaging |
Het |
| Usp13 |
A |
G |
3: 32,969,857 (GRCm39) |
E661G |
probably damaging |
Het |
| Vasp |
T |
G |
7: 18,992,958 (GRCm39) |
|
probably benign |
Het |
| Vmn2r109 |
A |
T |
17: 20,775,503 (GRCm39) |
Y75N |
possibly damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,770 (GRCm39) |
N363Y |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,786,476 (GRCm39) |
N426K |
probably benign |
Het |
| Znhit2 |
C |
A |
19: 6,112,288 (GRCm39) |
N344K |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAAGTCTGCTTGCTGAAGG -3'
(R):5'- TTTGTCGGGGCTGAAGTGATAACTC -3'
Sequencing Primer
(F):5'- AAGGCAGTATTAGTAAGTTGGCTCTC -3'
(R):5'- GGCTGAAGTGATAACTCAGTTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation