Incidental Mutation 'R4035:Snx27'
ID |
313656 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx27
|
Ensembl Gene |
ENSMUSG00000028136 |
Gene Name |
sorting nexin family member 27 |
Synonyms |
ESTM47, 5730552M22Rik |
MMRRC Submission |
041613-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4035 (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 94431551 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 281
(D281G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102904
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029783]
[ENSMUST00000107283]
[ENSMUST00000198426]
[ENSMUST00000199462]
[ENSMUST00000200642]
|
AlphaFold |
Q3UHD6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029783
AA Change: D281G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000029783 Gene: ENSMUSG00000028136 AA Change: D281G
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: D281G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102904 Gene: ENSMUSG00000028136 AA Change: D281G
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 |
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 |
possibly damaging
Transcript: ENSMUST00000200642
AA Change: D190G
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000143066 Gene: ENSMUSG00000028136 AA Change: D190G
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 |
0.4911 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (51/51) |
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 |
1700013D24Rik |
A |
G |
6: 124,333,879 (GRCm39) |
F34L |
probably benign |
Het |
Abcb8 |
A |
G |
5: 24,605,619 (GRCm39) |
S168G |
probably benign |
Het |
Ano5 |
A |
G |
7: 51,216,233 (GRCm39) |
|
probably benign |
Het |
Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
Bhlhe41 |
A |
G |
6: 145,808,754 (GRCm39) |
S353P |
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
Cep350 |
T |
C |
1: 155,835,541 (GRCm39) |
T52A |
probably benign |
Het |
Coro2b |
A |
G |
9: 62,333,071 (GRCm39) |
|
probably benign |
Het |
Ctcf |
A |
T |
8: 106,390,789 (GRCm39) |
E132V |
possibly damaging |
Het |
Cwf19l2 |
A |
T |
9: 3,456,803 (GRCm39) |
H712L |
probably benign |
Het |
Cxcl2 |
A |
T |
5: 91,052,272 (GRCm39) |
Q87L |
possibly damaging |
Het |
Dop1a |
T |
C |
9: 86,376,486 (GRCm39) |
V240A |
probably damaging |
Het |
Etfdh |
C |
T |
3: 79,521,018 (GRCm39) |
V294I |
probably benign |
Het |
Fnip2 |
C |
T |
3: 79,386,808 (GRCm39) |
V973I |
probably benign |
Het |
Fyco1 |
T |
C |
9: 123,630,348 (GRCm39) |
T1286A |
probably benign |
Het |
Gbp10 |
T |
A |
5: 105,372,324 (GRCm39) |
E145D |
possibly damaging |
Het |
Gsdme |
A |
T |
6: 50,206,428 (GRCm39) |
N138K |
possibly damaging |
Het |
Hcn4 |
A |
G |
9: 58,751,172 (GRCm39) |
D266G |
probably benign |
Het |
Henmt1 |
T |
C |
3: 108,866,001 (GRCm39) |
V199A |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,226,624 (GRCm39) |
K200* |
probably null |
Het |
Hmgcr |
C |
G |
13: 96,787,571 (GRCm39) |
L852F |
probably damaging |
Het |
Ifi203 |
T |
A |
1: 173,757,040 (GRCm39) |
|
probably benign |
Het |
Isl2 |
A |
G |
9: 55,449,754 (GRCm39) |
S119G |
probably benign |
Het |
Krba1 |
A |
G |
6: 48,388,614 (GRCm39) |
N538D |
probably damaging |
Het |
Lcorl |
A |
T |
5: 45,891,383 (GRCm39) |
N323K |
possibly damaging |
Het |
Mfsd2b |
A |
G |
12: 4,920,578 (GRCm39) |
S80P |
probably damaging |
Het |
Ndst4 |
C |
T |
3: 125,232,385 (GRCm39) |
T318M |
probably damaging |
Het |
Nlrp4f |
T |
C |
13: 65,341,821 (GRCm39) |
N608S |
probably benign |
Het |
Nolc1 |
GCA |
GCACCA |
19: 46,069,797 (GRCm39) |
|
probably benign |
Het |
Or6d12 |
A |
G |
6: 116,493,590 (GRCm39) |
N284S |
possibly damaging |
Het |
Or8b4 |
G |
A |
9: 37,829,937 (GRCm39) |
|
probably benign |
Het |
Osbpl2 |
G |
A |
2: 179,803,353 (GRCm39) |
R475H |
probably damaging |
Het |
Ppfibp1 |
A |
G |
6: 146,898,334 (GRCm39) |
K97E |
probably damaging |
Het |
Pramel26 |
T |
A |
4: 143,537,026 (GRCm39) |
D435V |
probably benign |
Het |
Prpsap1 |
A |
T |
11: 116,363,834 (GRCm39) |
M263K |
probably benign |
Het |
Prtg |
G |
T |
9: 72,749,991 (GRCm39) |
E132* |
probably null |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rttn |
T |
C |
18: 89,013,777 (GRCm39) |
V482A |
probably benign |
Het |
Samsn1 |
A |
G |
16: 75,706,073 (GRCm39) |
M1T |
probably null |
Het |
Scel |
A |
G |
14: 103,767,440 (GRCm39) |
N33S |
probably damaging |
Het |
Sema4g |
A |
T |
19: 44,989,853 (GRCm39) |
Y644F |
probably damaging |
Het |
Slc39a10 |
G |
A |
1: 46,851,234 (GRCm39) |
T752M |
probably damaging |
Het |
Spesp1 |
T |
A |
9: 62,180,318 (GRCm39) |
I197L |
probably benign |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
Tpgs1 |
A |
G |
10: 79,505,199 (GRCm39) |
|
probably null |
Het |
Trpc2 |
G |
A |
7: 101,733,711 (GRCm39) |
S220N |
probably damaging |
Het |
Ttk |
C |
A |
9: 83,736,890 (GRCm39) |
P450T |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,740,165 (GRCm39) |
Q3458P |
probably benign |
Het |
Ube2z |
A |
G |
11: 95,951,893 (GRCm39) |
F152L |
probably damaging |
Het |
Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
Zfa-ps |
T |
A |
10: 52,420,636 (GRCm39) |
|
noncoding transcript |
Het |
Zfp267 |
T |
G |
3: 36,218,989 (GRCm39) |
H337Q |
possibly 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 |
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 |
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'- GCACTCTGGGGTATTTACTGC -3'
(R):5'- CCTAAAGCCAGCTTTATGAGTTG -3'
Sequencing Primer
(F):5'- TCCTAGGCACTGAGATTACAAGC -3'
(R):5'- CTAGCATGTAGCAAGGAGAA -3'
|
Posted On |
2015-04-30 |