Incidental Mutation 'R0981:Snx1'
ID |
97173 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx1
|
Ensembl Gene |
ENSMUSG00000032382 |
Gene Name |
sorting nexin 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0981 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
65995409-66032168 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66016841 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 29
(I29V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120746
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034946]
[ENSMUST00000137542]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034946
AA Change: I77V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034946 Gene: ENSMUSG00000032382 AA Change: I77V
Domain | Start | End | E-Value | Type |
Pfam:Sorting_nexin
|
10 |
137 |
2.6e-29 |
PFAM |
PX
|
140 |
267 |
7.59e-40 |
SMART |
Pfam:Vps5
|
283 |
516 |
3.2e-86 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137542
AA Change: I29V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120746 Gene: ENSMUSG00000032382 AA Change: I29V
Domain | Start | End | E-Value | Type |
Pfam:Sorting_nexin
|
3 |
89 |
6.9e-25 |
PFAM |
PX
|
92 |
192 |
2.37e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145449
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146893
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.4%
- 20x: 89.6%
|
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. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutant mice are viable and fertile and do not exhibit any apparent abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
T |
A |
17: 45,831,257 (GRCm39) |
C942S |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,473,051 (GRCm39) |
N984S |
possibly damaging |
Het |
Ankrd55 |
T |
C |
13: 112,459,610 (GRCm39) |
V68A |
possibly damaging |
Het |
Asap2 |
T |
C |
12: 21,315,961 (GRCm39) |
S960P |
probably damaging |
Het |
Atp2b1 |
T |
A |
10: 98,851,491 (GRCm39) |
N66K |
probably damaging |
Het |
Cckar |
C |
T |
5: 53,863,632 (GRCm39) |
G39R |
probably damaging |
Het |
Cimap1a |
A |
G |
7: 140,428,208 (GRCm39) |
M7V |
probably benign |
Het |
Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
Cpb1 |
C |
A |
3: 20,329,654 (GRCm39) |
R24L |
probably benign |
Het |
Dlg5 |
T |
G |
14: 24,204,699 (GRCm39) |
R1258S |
probably damaging |
Het |
Fanci |
A |
G |
7: 79,054,914 (GRCm39) |
Q148R |
probably benign |
Het |
Fcgbp |
T |
A |
7: 27,784,535 (GRCm39) |
Y198* |
probably null |
Het |
Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
Garin5b |
T |
A |
7: 4,760,588 (GRCm39) |
|
probably null |
Het |
Glis1 |
A |
G |
4: 107,472,239 (GRCm39) |
E272G |
probably damaging |
Het |
Gm13741 |
T |
C |
2: 87,486,578 (GRCm39) |
N229S |
probably benign |
Het |
Gsdmc4 |
T |
A |
15: 63,763,922 (GRCm39) |
I392F |
probably damaging |
Het |
H2-M2 |
T |
C |
17: 37,793,521 (GRCm39) |
T162A |
probably benign |
Het |
Hk2 |
G |
A |
6: 82,720,949 (GRCm39) |
R190W |
probably damaging |
Het |
Irf1 |
T |
C |
11: 53,664,548 (GRCm39) |
*52R |
probably null |
Het |
Lman2l |
T |
A |
1: 36,484,314 (GRCm39) |
M1L |
unknown |
Het |
Mgat1 |
C |
T |
11: 49,151,882 (GRCm39) |
R122C |
probably damaging |
Het |
Mtrf1 |
T |
C |
14: 79,639,030 (GRCm39) |
L54S |
probably benign |
Het |
Myo5c |
A |
T |
9: 75,178,873 (GRCm39) |
L676F |
probably damaging |
Het |
Ofcc1 |
A |
G |
13: 40,226,174 (GRCm39) |
I786T |
probably damaging |
Het |
Or5p64 |
AGGT |
A |
7: 107,855,228 (GRCm39) |
|
probably benign |
Het |
Or5p64 |
GGTAG |
GG |
7: 107,855,229 (GRCm39) |
|
probably benign |
Het |
Pfn1 |
G |
A |
11: 70,542,964 (GRCm39) |
R137C |
probably benign |
Het |
Pgbd5 |
G |
A |
8: 125,111,032 (GRCm39) |
R129* |
probably null |
Het |
Pibf1 |
T |
C |
14: 99,388,179 (GRCm39) |
|
probably null |
Het |
Pkd2l1 |
A |
G |
19: 44,142,861 (GRCm39) |
|
probably null |
Het |
Plin5 |
C |
A |
17: 56,421,020 (GRCm39) |
R215L |
probably damaging |
Het |
Prrc2c |
C |
T |
1: 162,533,550 (GRCm39) |
|
probably benign |
Het |
Rnasel |
T |
G |
1: 153,635,345 (GRCm39) |
C608G |
probably benign |
Het |
Slc28a2 |
T |
A |
2: 122,281,465 (GRCm39) |
V218D |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,752,000 (GRCm39) |
W939R |
probably damaging |
Het |
Tmem237 |
C |
A |
1: 59,157,164 (GRCm39) |
R15L |
probably damaging |
Het |
Tmx3 |
T |
C |
18: 90,555,324 (GRCm39) |
V347A |
probably benign |
Het |
Vmn1r191 |
T |
C |
13: 22,363,389 (GRCm39) |
T122A |
probably benign |
Het |
Wdfy4 |
G |
T |
14: 32,869,049 (GRCm39) |
N326K |
probably benign |
Het |
Zfp408 |
A |
G |
2: 91,475,528 (GRCm39) |
L642P |
probably benign |
Het |
Zfp808 |
C |
A |
13: 62,319,487 (GRCm39) |
H239N |
possibly damaging |
Het |
|
Other mutations in Snx1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00806:Snx1
|
APN |
9 |
65,996,867 (GRCm39) |
nonsense |
probably null |
|
IGL01015:Snx1
|
APN |
9 |
66,001,713 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02070:Snx1
|
APN |
9 |
66,005,731 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02225:Snx1
|
APN |
9 |
66,016,903 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02984:Snx1
|
APN |
9 |
65,996,390 (GRCm39) |
splice site |
probably benign |
|
IGL03069:Snx1
|
APN |
9 |
66,001,906 (GRCm39) |
missense |
probably benign |
|
IGL03188:Snx1
|
APN |
9 |
66,001,734 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4589:Snx1
|
UTSW |
9 |
66,012,208 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Snx1
|
UTSW |
9 |
66,012,212 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Snx1
|
UTSW |
9 |
66,012,211 (GRCm39) |
small insertion |
probably benign |
|
R0116:Snx1
|
UTSW |
9 |
65,995,821 (GRCm39) |
nonsense |
probably null |
|
R0243:Snx1
|
UTSW |
9 |
66,008,608 (GRCm39) |
splice site |
probably benign |
|
R0755:Snx1
|
UTSW |
9 |
66,005,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R1495:Snx1
|
UTSW |
9 |
66,003,879 (GRCm39) |
missense |
probably benign |
0.23 |
R1528:Snx1
|
UTSW |
9 |
66,016,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R1725:Snx1
|
UTSW |
9 |
66,005,611 (GRCm39) |
critical splice donor site |
probably null |
|
R3752:Snx1
|
UTSW |
9 |
66,012,933 (GRCm39) |
splice site |
probably null |
|
R4487:Snx1
|
UTSW |
9 |
65,996,877 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4778:Snx1
|
UTSW |
9 |
66,008,698 (GRCm39) |
intron |
probably benign |
|
R4975:Snx1
|
UTSW |
9 |
66,012,187 (GRCm39) |
nonsense |
probably null |
|
R5043:Snx1
|
UTSW |
9 |
66,004,718 (GRCm39) |
missense |
probably benign |
0.04 |
R6346:Snx1
|
UTSW |
9 |
66,001,930 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8063:Snx1
|
UTSW |
9 |
66,004,676 (GRCm39) |
unclassified |
probably benign |
|
R9679:Snx1
|
UTSW |
9 |
65,998,002 (GRCm39) |
missense |
probably benign |
0.14 |
RF045:Snx1
|
UTSW |
9 |
66,012,204 (GRCm39) |
small insertion |
probably benign |
|
T0722:Snx1
|
UTSW |
9 |
66,012,209 (GRCm39) |
small insertion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- gactctattgtgccaggcttAGACTTTC -3'
(R):5'- GACCAACCGACTGCTTCCTTCC -3'
Sequencing Primer
(F):5'- gccaggcttAGACTTTCTAAATTATG -3'
(R):5'- ccaggacagccaggactac -3'
|
Posted On |
2014-01-05 |