Incidental Mutation 'IGL00906:Snx21'
| ID |
26843 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snx21
|
| Ensembl Gene |
ENSMUSG00000050373 |
| Gene Name |
sorting nexin family member 21 |
| Synonyms |
5730407K14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00906
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164627743-164635736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164628140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 52
(L52P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056181]
[ENSMUST00000152471]
[ENSMUST00000172577]
[ENSMUST00000174070]
|
| AlphaFold |
Q3UR97 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056181
AA Change: L52P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054137
Gene: ENSMUSG00000050373
AA Change: L52P
| 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 damaging
Transcript: ENSMUST00000152471
AA Change: L52P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133914
Gene: ENSMUSG00000050373
AA Change: L52P
| 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 damaging
Transcript: ENSMUST00000172577
AA Change: L52P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134133
Gene: ENSMUSG00000050373
AA Change: L52P
| 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 |
noncoding transcript
Transcript: ENSMUST00000173945
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174070
AA Change: L52P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133344
Gene: ENSMUSG00000050373
AA Change: L52P
| 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
A |
G |
5: 125,580,338 (GRCm39) |
E221G |
probably benign |
Het |
| Alb |
A |
G |
5: 90,619,932 (GRCm39) |
N453S |
probably benign |
Het |
| Bckdha |
C |
T |
7: 25,332,767 (GRCm39) |
V183M |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,055,674 (GRCm39) |
|
probably benign |
Het |
| Ccdc163 |
T |
C |
4: 116,567,487 (GRCm39) |
|
probably null |
Het |
| Ccdc178 |
A |
T |
18: 22,268,225 (GRCm39) |
C87* |
probably null |
Het |
| Cfhr4 |
A |
T |
1: 139,659,312 (GRCm39) |
V739E |
probably damaging |
Het |
| Clca4a |
A |
G |
3: 144,660,700 (GRCm39) |
V708A |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,091,512 (GRCm39) |
V1136A |
possibly damaging |
Het |
| Dnah11 |
A |
C |
12: 117,874,937 (GRCm39) |
L3976R |
probably damaging |
Het |
| Erich1 |
A |
G |
8: 14,083,770 (GRCm39) |
|
probably benign |
Het |
| Fam228a |
A |
T |
12: 4,782,773 (GRCm39) |
Y107N |
possibly damaging |
Het |
| Iars2 |
A |
T |
1: 185,028,600 (GRCm39) |
|
probably benign |
Het |
| Ifi204 |
A |
G |
1: 173,587,197 (GRCm39) |
|
probably benign |
Het |
| Ifih1 |
A |
T |
2: 62,476,168 (GRCm39) |
I36N |
probably benign |
Het |
| Jak1 |
C |
T |
4: 101,011,826 (GRCm39) |
G1092D |
probably damaging |
Het |
| Kir3dl2 |
G |
A |
X: 135,357,097 (GRCm39) |
P122S |
probably damaging |
Het |
| Nacc2 |
T |
C |
2: 25,951,678 (GRCm39) |
T386A |
probably damaging |
Het |
| Nrf1 |
C |
T |
6: 30,098,477 (GRCm39) |
T135M |
probably damaging |
Het |
| Or4k15 |
A |
G |
14: 50,364,214 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or51i2 |
G |
A |
7: 103,689,051 (GRCm39) |
G16D |
probably damaging |
Het |
| Pcca |
A |
C |
14: 122,927,545 (GRCm39) |
D436A |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,555,174 (GRCm39) |
Q168L |
possibly damaging |
Het |
| Pdgfra |
A |
G |
5: 75,340,834 (GRCm39) |
I598V |
probably benign |
Het |
| Pla2g6 |
C |
T |
15: 79,171,947 (GRCm39) |
V637I |
probably damaging |
Het |
| Plac1 |
A |
C |
X: 52,159,593 (GRCm39) |
V39G |
probably damaging |
Het |
| Pparg |
A |
G |
6: 115,416,822 (GRCm39) |
E5G |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,157,023 (GRCm39) |
D967G |
possibly damaging |
Het |
| Rel |
T |
C |
11: 23,694,266 (GRCm39) |
T322A |
probably benign |
Het |
| Sgk3 |
A |
G |
1: 9,947,470 (GRCm39) |
T137A |
probably benign |
Het |
| Sgpp2 |
A |
G |
1: 78,367,184 (GRCm39) |
R106G |
probably benign |
Het |
| Slc27a5 |
T |
A |
7: 12,724,984 (GRCm39) |
M459L |
probably benign |
Het |
| Srarp |
G |
A |
4: 141,160,584 (GRCm39) |
T83M |
probably benign |
Het |
| Sstr2 |
A |
G |
11: 113,515,821 (GRCm39) |
R247G |
probably benign |
Het |
| Tnpo3 |
G |
A |
6: 29,589,047 (GRCm39) |
S101L |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,387,622 (GRCm39) |
I4863T |
unknown |
Het |
|
| Other mutations in Snx21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R8001:Snx21
|
UTSW |
2 |
164,628,657 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation