Incidental Mutation 'R7049:Snx7'
ID |
547477 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx7
|
Ensembl Gene |
ENSMUSG00000028007 |
Gene Name |
sorting nexin 7 |
Synonyms |
|
MMRRC Submission |
045147-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R7049 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
117575296-117662585 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 117633680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 90
(R90H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125804
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029639]
[ENSMUST00000167877]
[ENSMUST00000198499]
|
AlphaFold |
Q9CY18 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029639
AA Change: R118H
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000029639 Gene: ENSMUSG00000028007 AA Change: R118H
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
51 |
N/A |
INTRINSIC |
PX
|
85 |
205 |
1.55e-22 |
SMART |
coiled coil region
|
362 |
391 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167877
AA Change: R90H
PolyPhen 2
Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000125804 Gene: ENSMUSG00000028007 AA Change: R90H
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
PX
|
57 |
196 |
3.62e-2 |
SMART |
coiled coil region
|
279 |
308 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000128007 Gene: ENSMUSG00000028007 AA Change: R109H
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
PX
|
77 |
197 |
1.55e-22 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198499
AA Change: R60H
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000143230 Gene: ENSMUSG00000028007 AA Change: R60H
Domain | Start | End | E-Value | Type |
PX
|
27 |
147 |
1.55e-22 |
SMART |
coiled coil region
|
304 |
333 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4462 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (46/46) |
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 protein does not contain a coiled coil region like some family members, and its exact function is unknown. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jun 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,941,497 (GRCm39) |
V447A |
probably benign |
Het |
Adam6b |
A |
G |
12: 113,454,122 (GRCm39) |
D313G |
probably damaging |
Het |
Adcy10 |
G |
T |
1: 165,367,443 (GRCm39) |
C571F |
probably damaging |
Het |
Anxa1 |
A |
G |
19: 20,352,635 (GRCm39) |
V313A |
probably benign |
Het |
Bpifb6 |
A |
T |
2: 153,750,733 (GRCm39) |
|
probably null |
Het |
Cacna1c |
C |
A |
6: 118,578,124 (GRCm39) |
C1713F |
probably benign |
Het |
Cep135 |
A |
G |
5: 76,754,585 (GRCm39) |
N354S |
probably benign |
Het |
Cers2 |
A |
G |
3: 95,228,965 (GRCm39) |
D200G |
probably damaging |
Het |
Cpne1 |
A |
G |
2: 155,920,727 (GRCm39) |
L133P |
probably damaging |
Het |
Ddhd1 |
A |
G |
14: 45,840,138 (GRCm39) |
Y16H |
probably damaging |
Het |
Depp1 |
T |
C |
6: 116,629,254 (GRCm39) |
L199P |
probably damaging |
Het |
Fastkd2 |
T |
C |
1: 63,771,009 (GRCm39) |
F122L |
probably benign |
Het |
Fastkd5 |
A |
T |
2: 130,457,431 (GRCm39) |
D386E |
probably damaging |
Het |
Gm5134 |
T |
A |
10: 75,828,292 (GRCm39) |
C291S |
probably damaging |
Het |
Gria2 |
T |
C |
3: 80,596,634 (GRCm39) |
S811G |
probably damaging |
Het |
Hcn1 |
C |
T |
13: 118,111,998 (GRCm39) |
P654L |
unknown |
Het |
Hrnr |
C |
A |
3: 93,230,461 (GRCm39) |
S233* |
probably null |
Het |
Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
Itgal |
A |
T |
7: 126,895,573 (GRCm39) |
|
probably benign |
Het |
L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
Mical1 |
A |
G |
10: 41,358,246 (GRCm39) |
R420G |
possibly damaging |
Het |
Mllt6 |
T |
A |
11: 97,564,637 (GRCm39) |
L481Q |
probably damaging |
Het |
Mtdh |
T |
A |
15: 34,131,311 (GRCm39) |
N174K |
probably damaging |
Het |
Nhsl1 |
A |
G |
10: 18,407,386 (GRCm39) |
M1507V |
probably damaging |
Het |
Npm3 |
A |
T |
19: 45,737,994 (GRCm39) |
M1K |
probably null |
Het |
Or1e21 |
C |
T |
11: 73,344,430 (GRCm39) |
G203R |
probably damaging |
Het |
Pold1 |
A |
T |
7: 44,190,795 (GRCm39) |
W290R |
possibly damaging |
Het |
Prss52 |
C |
T |
14: 64,350,021 (GRCm39) |
T216I |
probably damaging |
Het |
Psme4 |
T |
C |
11: 30,763,904 (GRCm39) |
|
probably null |
Het |
Pwwp2a |
T |
A |
11: 43,597,018 (GRCm39) |
F453I |
probably damaging |
Het |
Rttn |
A |
G |
18: 89,082,340 (GRCm39) |
N1422S |
probably damaging |
Het |
Scaf4 |
A |
C |
16: 90,057,075 (GRCm39) |
I92R |
unknown |
Het |
Slc12a1 |
A |
G |
2: 125,013,177 (GRCm39) |
K345E |
probably benign |
Het |
Slc22a28 |
A |
T |
19: 8,049,270 (GRCm39) |
N326K |
probably benign |
Het |
Smgc |
A |
G |
15: 91,744,576 (GRCm39) |
E311G |
possibly damaging |
Het |
Tex101 |
A |
G |
7: 24,367,683 (GRCm39) |
I223T |
probably benign |
Het |
Tnik |
A |
T |
3: 28,715,853 (GRCm39) |
K1093* |
probably null |
Het |
Tnxb |
T |
G |
17: 34,936,242 (GRCm39) |
|
probably null |
Het |
Trio |
T |
C |
15: 27,749,885 (GRCm39) |
N2272S |
possibly damaging |
Het |
Tubal3 |
T |
C |
13: 3,982,756 (GRCm39) |
Y179H |
probably damaging |
Het |
Vmn2r4 |
C |
T |
3: 64,296,550 (GRCm39) |
G745D |
probably benign |
Het |
Vps9d1 |
A |
T |
8: 123,973,882 (GRCm39) |
Y300* |
probably null |
Het |
Zfp646 |
T |
A |
7: 127,479,199 (GRCm39) |
C459S |
possibly damaging |
Het |
|
Other mutations in Snx7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02593:Snx7
|
APN |
3 |
117,633,609 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02859:Snx7
|
APN |
3 |
117,623,320 (GRCm39) |
splice site |
probably benign |
|
IGL03260:Snx7
|
APN |
3 |
117,575,942 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03357:Snx7
|
APN |
3 |
117,632,524 (GRCm39) |
missense |
probably damaging |
1.00 |
P0026:Snx7
|
UTSW |
3 |
117,633,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R0620:Snx7
|
UTSW |
3 |
117,640,324 (GRCm39) |
missense |
probably damaging |
0.96 |
R0731:Snx7
|
UTSW |
3 |
117,623,320 (GRCm39) |
splice site |
probably benign |
|
R1613:Snx7
|
UTSW |
3 |
117,623,222 (GRCm39) |
splice site |
probably benign |
|
R1621:Snx7
|
UTSW |
3 |
117,630,805 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1911:Snx7
|
UTSW |
3 |
117,623,317 (GRCm39) |
splice site |
probably null |
|
R1912:Snx7
|
UTSW |
3 |
117,623,317 (GRCm39) |
splice site |
probably null |
|
R3788:Snx7
|
UTSW |
3 |
117,632,639 (GRCm39) |
splice site |
probably benign |
|
R4663:Snx7
|
UTSW |
3 |
117,594,528 (GRCm39) |
missense |
probably benign |
0.00 |
R5182:Snx7
|
UTSW |
3 |
117,626,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R5681:Snx7
|
UTSW |
3 |
117,640,272 (GRCm39) |
missense |
probably benign |
0.10 |
R6397:Snx7
|
UTSW |
3 |
117,640,272 (GRCm39) |
missense |
probably benign |
0.10 |
R6715:Snx7
|
UTSW |
3 |
117,575,985 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6901:Snx7
|
UTSW |
3 |
117,623,285 (GRCm39) |
nonsense |
probably null |
|
R6996:Snx7
|
UTSW |
3 |
117,640,281 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7372:Snx7
|
UTSW |
3 |
117,576,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R7429:Snx7
|
UTSW |
3 |
117,630,861 (GRCm39) |
missense |
probably benign |
0.00 |
R7741:Snx7
|
UTSW |
3 |
117,632,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R8025:Snx7
|
UTSW |
3 |
117,626,526 (GRCm39) |
missense |
probably benign |
|
R8098:Snx7
|
UTSW |
3 |
117,632,583 (GRCm39) |
missense |
probably benign |
0.00 |
R8125:Snx7
|
UTSW |
3 |
117,630,894 (GRCm39) |
missense |
probably damaging |
0.96 |
R9400:Snx7
|
UTSW |
3 |
117,630,863 (GRCm39) |
missense |
probably benign |
0.04 |
R9501:Snx7
|
UTSW |
3 |
117,632,611 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCATCCTTAGGCTACCTC -3'
(R):5'- TGCTGCATGAATAGATGACTGG -3'
Sequencing Primer
(F):5'- TGTTTGGTACTATGTTTTAGACACTC -3'
(R):5'- CTGCATGAATAGATGACTGGAAAAAG -3'
|
Posted On |
2019-05-13 |