Incidental Mutation 'R6715:Snx7'
| ID |
529284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx7
|
| Ensembl Gene |
ENSMUSG00000028007 |
| Gene Name |
sorting nexin 7 |
| Synonyms |
|
| MMRRC Submission |
044833-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6715 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
117575296-117662585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117575985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 434
(D434G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029639]
[ENSMUST00000167877]
[ENSMUST00000198499]
|
| AlphaFold |
Q9CY18 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029639
AA Change: D434G
PolyPhen 2
Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000029639
Gene: ENSMUSG00000028007
AA Change: D434G
| 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 |
probably benign
Transcript: ENSMUST00000167877
AA Change: D351G
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125804
Gene: ENSMUSG00000028007
AA Change: D351G
| 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 |
unknown
Transcript: ENSMUST00000169812
AA Change: D374G
|
| SMART Domains |
Protein: ENSMUSP00000128007
Gene: ENSMUSG00000028007
AA Change: D374G
| 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: D376G
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143230
Gene: ENSMUSG00000028007
AA Change: D376G
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| Validation Efficiency |
100% (35/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
G |
A |
12: 88,425,850 (GRCm39) |
R426H |
probably damaging |
Het |
| Arl2 |
G |
A |
19: 6,187,555 (GRCm39) |
R98C |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,442,948 (GRCm39) |
I105T |
probably damaging |
Het |
| Cnnm2 |
G |
A |
19: 46,842,412 (GRCm39) |
G565E |
probably damaging |
Het |
| Ddx60 |
G |
A |
8: 62,436,924 (GRCm39) |
G958D |
probably benign |
Het |
| Fbxo2 |
T |
A |
4: 148,250,226 (GRCm39) |
M252K |
probably benign |
Het |
| Filip1 |
C |
A |
9: 79,726,040 (GRCm39) |
A860S |
probably benign |
Het |
| Gm11992 |
C |
A |
11: 9,011,214 (GRCm39) |
S218R |
probably damaging |
Het |
| Gnb3 |
A |
G |
6: 124,814,691 (GRCm39) |
L69P |
possibly damaging |
Het |
| Gpr18 |
T |
G |
14: 122,149,389 (GRCm39) |
H212P |
possibly damaging |
Het |
| Iqcb1 |
T |
C |
16: 36,655,991 (GRCm39) |
F126S |
probably damaging |
Het |
| Katnip |
C |
T |
7: 125,361,001 (GRCm39) |
Q104* |
probably null |
Het |
| Kcnh1 |
A |
G |
1: 192,019,949 (GRCm39) |
D425G |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,536,799 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
C |
T |
10: 76,325,366 (GRCm39) |
T989M |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,623,004 (GRCm39) |
C1999R |
probably benign |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Myof |
A |
T |
19: 37,956,794 (GRCm39) |
D508E |
probably benign |
Het |
| Or52b2 |
A |
T |
7: 104,986,539 (GRCm39) |
I128N |
probably damaging |
Het |
| Or56b2j |
G |
A |
7: 104,353,163 (GRCm39) |
V130M |
possibly damaging |
Het |
| Or5l13 |
T |
A |
2: 87,780,335 (GRCm39) |
M81L |
probably benign |
Het |
| Osbpl7 |
A |
G |
11: 96,945,425 (GRCm39) |
H266R |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,666,424 (GRCm39) |
Y93C |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,965,000 (GRCm39) |
H881R |
possibly damaging |
Het |
| Rfx1 |
A |
G |
8: 84,822,444 (GRCm39) |
E914G |
possibly damaging |
Het |
| Samm50 |
T |
C |
15: 84,095,259 (GRCm39) |
I415T |
probably benign |
Het |
| Susd4 |
G |
A |
1: 182,719,602 (GRCm39) |
V406M |
probably benign |
Het |
| Syt15 |
G |
T |
14: 33,944,819 (GRCm39) |
G122V |
probably damaging |
Het |
| Tlr5 |
A |
G |
1: 182,800,224 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,721,556 (GRCm39) |
|
probably null |
Het |
| Vmn1r211 |
C |
A |
13: 23,035,949 (GRCm39) |
M239I |
probably benign |
Het |
| Vps37a |
G |
T |
8: 40,993,902 (GRCm39) |
|
probably null |
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 |
|
R6901:Snx7
|
UTSW |
3 |
117,623,285 (GRCm39) |
nonsense |
probably null |
|
|
R6996:Snx7
|
UTSW |
3 |
117,640,281 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7049:Snx7
|
UTSW |
3 |
117,633,680 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
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'- CTGGAATACCTGAGCTTTTAGTTG -3'
(R):5'- AAGAAAATGTGTACACCCATGC -3'
Sequencing Primer
(F):5'- ACCTGAGCTTTTAGTTGTTGGTTTTC -3'
(R):5'- CTGAGAGGTGATAAATACTCTCAAGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation