Incidental Mutation 'IGL03400:Spns3'
| ID |
421378 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spns3
|
| Ensembl Gene |
ENSMUSG00000020798 |
| Gene Name |
SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative) |
| Synonyms |
9830002I17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03400
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
72388979-72441334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72390501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 418
(V418A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021154]
[ENSMUST00000092940]
|
| AlphaFold |
Q9D232 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021154
AA Change: V396A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000021154
Gene: ENSMUSG00000020798
AA Change: V396A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
25 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
47 |
402 |
2.4e-28 |
PFAM |
|
Pfam:Sugar_tr
|
48 |
225 |
3.3e-9 |
PFAM |
|
transmembrane domain
|
428 |
450 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092940
AA Change: V418A
PolyPhen 2
Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000090617
Gene: ENSMUSG00000020798
AA Change: V418A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
25 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
44 |
248 |
1.5e-11 |
PFAM |
|
Pfam:OATP
|
50 |
388 |
4.8e-9 |
PFAM |
|
Pfam:MFS_1
|
55 |
425 |
4.2e-35 |
PFAM |
|
transmembrane domain
|
450 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155774
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Bmp3 |
T |
C |
5: 99,019,957 (GRCm39) |
S127P |
probably damaging |
Het |
| Cemip |
A |
G |
7: 83,607,724 (GRCm39) |
S761P |
probably damaging |
Het |
| Cenatac |
A |
G |
9: 44,324,486 (GRCm39) |
V185A |
probably benign |
Het |
| Ces3b |
A |
G |
8: 105,819,568 (GRCm39) |
T495A |
probably damaging |
Het |
| Cops3 |
A |
T |
11: 59,708,914 (GRCm39) |
D413E |
probably benign |
Het |
| Cyp4f16 |
A |
G |
17: 32,769,327 (GRCm39) |
I406V |
probably benign |
Het |
| Efcab6 |
A |
T |
15: 83,751,246 (GRCm39) |
|
probably benign |
Het |
| Emsy |
A |
G |
7: 98,251,933 (GRCm39) |
V703A |
possibly damaging |
Het |
| Fancb |
T |
C |
X: 163,778,587 (GRCm39) |
S587P |
possibly damaging |
Het |
| Farp1 |
A |
G |
14: 121,444,733 (GRCm39) |
Y80C |
probably damaging |
Het |
| Fgf10 |
T |
C |
13: 118,918,151 (GRCm39) |
|
probably null |
Het |
| Fgf13 |
A |
G |
X: 58,171,248 (GRCm39) |
|
probably benign |
Het |
| Filip1 |
T |
C |
9: 79,727,755 (GRCm39) |
K288R |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,191,424 (GRCm39) |
N458S |
unknown |
Het |
| Nek11 |
C |
T |
9: 105,082,065 (GRCm39) |
A513T |
probably benign |
Het |
| Or10a3m |
A |
C |
7: 108,312,733 (GRCm39) |
I46L |
probably benign |
Het |
| Or11q2 |
T |
A |
X: 48,772,781 (GRCm39) |
L134Q |
probably damaging |
Het |
| Or2ah1 |
T |
C |
2: 85,654,094 (GRCm39) |
Y260H |
probably damaging |
Het |
| Palld |
G |
T |
8: 61,966,489 (GRCm39) |
A630E |
probably damaging |
Het |
| Pdk1 |
T |
C |
2: 71,726,091 (GRCm39) |
M333T |
probably benign |
Het |
| Rab9 |
T |
C |
X: 165,240,744 (GRCm39) |
N189S |
probably benign |
Het |
| Shtn1 |
C |
T |
19: 59,020,690 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,533,638 (GRCm39) |
I339V |
probably damaging |
Het |
| St14 |
T |
A |
9: 31,008,267 (GRCm39) |
|
probably benign |
Het |
| Tedc2 |
T |
C |
17: 24,438,777 (GRCm39) |
D180G |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,236,459 (GRCm39) |
I523T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,551,208 (GRCm39) |
M23068L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,579,266 (GRCm39) |
M15549V |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,992,302 (GRCm39) |
|
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,806,345 (GRCm39) |
Y329C |
probably benign |
Het |
| Zmym4 |
G |
T |
4: 126,816,920 (GRCm39) |
D259E |
probably benign |
Het |
|
| Other mutations in Spns3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00822:Spns3
|
APN |
11 |
72,390,179 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02731:Spns3
|
APN |
11 |
72,420,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0948:Spns3
|
UTSW |
11 |
72,436,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1807:Spns3
|
UTSW |
11 |
72,429,166 (GRCm39) |
nonsense |
probably null |
|
|
R2151:Spns3
|
UTSW |
11 |
72,436,787 (GRCm39) |
splice site |
probably benign |
|
|
R2393:Spns3
|
UTSW |
11 |
72,441,059 (GRCm39) |
start gained |
probably benign |
|
|
R3703:Spns3
|
UTSW |
11 |
72,390,356 (GRCm39) |
splice site |
probably benign |
|
|
R4207:Spns3
|
UTSW |
11 |
72,429,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4685:Spns3
|
UTSW |
11 |
72,428,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4932:Spns3
|
UTSW |
11 |
72,390,321 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5009:Spns3
|
UTSW |
11 |
72,428,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5041:Spns3
|
UTSW |
11 |
72,427,373 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5997:Spns3
|
UTSW |
11 |
72,429,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6179:Spns3
|
UTSW |
11 |
72,390,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Spns3
|
UTSW |
11 |
72,420,466 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7635:Spns3
|
UTSW |
11 |
72,429,860 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8312:Spns3
|
UTSW |
11 |
72,390,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8881:Spns3
|
UTSW |
11 |
72,429,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8979:Spns3
|
UTSW |
11 |
72,420,416 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0017:Spns3
|
UTSW |
11 |
72,395,891 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1176:Spns3
|
UTSW |
11 |
72,436,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Spns3
|
UTSW |
11 |
72,420,408 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Spns3
|
UTSW |
11 |
72,427,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Spns3
|
UTSW |
11 |
72,440,986 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1186:Spns3
|
UTSW |
11 |
72,440,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1186:Spns3
|
UTSW |
11 |
72,440,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Spns3
|
UTSW |
11 |
72,440,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Spns3
|
UTSW |
11 |
72,440,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Spns3
|
UTSW |
11 |
72,440,986 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1188:Spns3
|
UTSW |
11 |
72,440,986 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1188:Spns3
|
UTSW |
11 |
72,440,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Spns3
|
UTSW |
11 |
72,440,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Spns3
|
UTSW |
11 |
72,440,986 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1189:Spns3
|
UTSW |
11 |
72,440,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Spns3
|
UTSW |
11 |
72,440,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Spns3
|
UTSW |
11 |
72,440,986 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1190:Spns3
|
UTSW |
11 |
72,440,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Spns3
|
UTSW |
11 |
72,440,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Spns3
|
UTSW |
11 |
72,440,986 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1191:Spns3
|
UTSW |
11 |
72,440,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Spns3
|
UTSW |
11 |
72,440,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Spns3
|
UTSW |
11 |
72,440,986 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1192:Spns3
|
UTSW |
11 |
72,440,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Spns3
|
UTSW |
11 |
72,440,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation