Incidental Mutation 'R8001:Snx21'
| ID |
616349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx21
|
| Ensembl Gene |
ENSMUSG00000050373 |
| Gene Name |
sorting nexin family member 21 |
| Synonyms |
5730407K14Rik |
| MMRRC Submission |
046041-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
164627743-164635736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164628657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 100
(L100P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056181]
[ENSMUST00000152471]
[ENSMUST00000172577]
[ENSMUST00000174070]
|
| AlphaFold |
Q3UR97 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056181
AA Change: L100P
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000054137
Gene: ENSMUSG00000050373
AA Change: L100P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
|
PX
|
124 |
232 |
4.19e-10 |
SMART |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
343 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140519
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152471
AA Change: L100P
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133914
Gene: ENSMUSG00000050373
AA Change: L100P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172577
AA Change: L100P
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134133
Gene: ENSMUSG00000050373
AA Change: L100P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174070
AA Change: L100P
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133344
Gene: ENSMUSG00000050373
AA Change: L100P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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 protein does not contain a coiled coil region, like some family members. The specific function of this protein has not been determined. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
A |
G |
15: 89,458,165 (GRCm39) |
Y282C |
probably damaging |
Het |
| Alkbh4 |
A |
G |
5: 136,169,123 (GRCm39) |
R136G |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,938,166 (GRCm39) |
E2* |
probably null |
Het |
| Cse1l |
T |
A |
2: 166,781,833 (GRCm39) |
F659Y |
probably damaging |
Het |
| Ctrc |
A |
T |
4: 141,567,671 (GRCm39) |
L144Q |
probably damaging |
Het |
| Elmo1 |
A |
G |
13: 20,470,902 (GRCm39) |
I265V |
probably benign |
Het |
| Erich3 |
T |
C |
3: 154,419,553 (GRCm39) |
S19P |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,540,629 (GRCm39) |
C2893* |
probably null |
Het |
| Hnrnpll |
G |
A |
17: 80,346,152 (GRCm39) |
Q370* |
probably null |
Het |
| Itpkb |
T |
C |
1: 180,160,059 (GRCm39) |
S62P |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,682,902 (GRCm39) |
C501S |
probably benign |
Het |
| Mab21l4 |
A |
G |
1: 93,082,321 (GRCm39) |
L266P |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,395,964 (GRCm39) |
R64H |
possibly damaging |
Het |
| Ogfod2 |
T |
G |
5: 124,252,946 (GRCm39) |
C319G |
probably damaging |
Het |
| Or51h1 |
A |
T |
7: 102,308,241 (GRCm39) |
D71V |
probably damaging |
Het |
| Or5ac19 |
T |
C |
16: 59,089,472 (GRCm39) |
N186S |
probably benign |
Het |
| Or5b118 |
A |
G |
19: 13,448,786 (GRCm39) |
I109V |
probably benign |
Het |
| Or9k7 |
A |
G |
10: 130,046,729 (GRCm39) |
V90A |
probably benign |
Het |
| Pabpc6 |
C |
A |
17: 9,888,302 (GRCm39) |
R83L |
probably damaging |
Het |
| Pcdhgb2 |
A |
T |
18: 37,823,687 (GRCm39) |
Q226L |
probably benign |
Het |
| Pole |
A |
T |
5: 110,460,600 (GRCm39) |
I1127F |
probably damaging |
Het |
| Psg22 |
A |
T |
7: 18,453,671 (GRCm39) |
Q161L |
possibly damaging |
Het |
| Slc17a7 |
A |
T |
7: 44,818,212 (GRCm39) |
T46S |
probably benign |
Het |
| Smad4 |
A |
G |
18: 73,774,881 (GRCm39) |
S473P |
probably damaging |
Het |
| Snap47 |
T |
A |
11: 59,329,180 (GRCm39) |
T41S |
probably benign |
Het |
| Stc1 |
T |
A |
14: 69,275,844 (GRCm39) |
N212K |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,448,209 (GRCm39) |
N396I |
possibly damaging |
Het |
| Stox2 |
G |
A |
8: 47,639,512 (GRCm39) |
P894L |
probably benign |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,284,744 (GRCm39) |
M1V |
probably null |
Het |
| Trim33 |
T |
C |
3: 103,218,831 (GRCm39) |
|
probably null |
Het |
| Tyrp1 |
T |
C |
4: 80,758,907 (GRCm39) |
V260A |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,643,261 (GRCm39) |
Y4208H |
probably damaging |
Het |
| Vmn1r25 |
T |
A |
6: 57,956,065 (GRCm39) |
K75* |
probably null |
Het |
| Vmn2r117 |
T |
A |
17: 23,698,381 (GRCm39) |
N64I |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,695,492 (GRCm39) |
|
probably null |
Het |
| Wnt8a |
A |
T |
18: 34,678,569 (GRCm39) |
I128F |
probably damaging |
Het |
| Zc3h7b |
C |
A |
15: 81,663,461 (GRCm39) |
Y484* |
probably null |
Het |
| Zfp619 |
A |
G |
7: 39,184,645 (GRCm39) |
K225R |
probably benign |
Het |
|
| Other mutations in Snx21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Snx21
|
APN |
2 |
164,628,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02329:Snx21
|
APN |
2 |
164,634,310 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4162:Snx21
|
UTSW |
2 |
164,628,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4164:Snx21
|
UTSW |
2 |
164,628,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Snx21
|
UTSW |
2 |
164,628,666 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5262:Snx21
|
UTSW |
2 |
164,633,741 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6875:Snx21
|
UTSW |
2 |
164,633,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Snx21
|
UTSW |
2 |
164,628,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7757:Snx21
|
UTSW |
2 |
164,628,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8341:Snx21
|
UTSW |
2 |
164,633,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8796:Snx21
|
UTSW |
2 |
164,628,749 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9340:Snx21
|
UTSW |
2 |
164,633,849 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9741:Snx21
|
UTSW |
2 |
164,634,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATCCACTGTAAGCCAGG -3'
(R):5'- GGACATCCTTTTATAACTGCATGGC -3'
Sequencing Primer
(F):5'- GCGCTGGGGTGAAGCAC -3'
(R):5'- TTTATAACTGCATGGCCACGAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation