Incidental Mutation 'IGL02731:Spns3'
| ID |
305477 |
| 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 # |
IGL02731
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
72388979-72441334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72420403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 361
(Y361C)
|
| 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: Y339C
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000021154
Gene: ENSMUSG00000020798
AA Change: Y339C
| 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 |
probably damaging
Transcript: ENSMUST00000092940
AA Change: Y361C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090617
Gene: ENSMUSG00000020798
AA Change: Y361C
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap10 |
A |
T |
11: 61,784,302 (GRCm39) |
D515E |
possibly damaging |
Het |
| Ankrd13b |
A |
T |
11: 77,367,045 (GRCm39) |
S9R |
probably damaging |
Het |
| Ano9 |
G |
A |
7: 140,687,117 (GRCm39) |
A374V |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cep78 |
T |
A |
19: 15,933,670 (GRCm39) |
H636L |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,143,204 (GRCm39) |
V563A |
probably damaging |
Het |
| Cndp1 |
G |
T |
18: 84,650,083 (GRCm39) |
D203E |
probably damaging |
Het |
| Col16a1 |
G |
A |
4: 129,947,323 (GRCm39) |
|
probably benign |
Het |
| Copa |
T |
C |
1: 171,929,785 (GRCm39) |
V284A |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,976,188 (GRCm39) |
T1656A |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,369,434 (GRCm39) |
I89T |
probably damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,219,295 (GRCm39) |
S36P |
probably benign |
Het |
| Ep300 |
A |
T |
15: 81,532,615 (GRCm39) |
I1618F |
unknown |
Het |
| Fan1 |
G |
A |
7: 64,022,741 (GRCm39) |
L171F |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,135,079 (GRCm39) |
T291A |
probably benign |
Het |
| Gm14325 |
T |
C |
2: 177,474,779 (GRCm39) |
K101R |
probably damaging |
Het |
| Hmx3 |
A |
T |
7: 131,145,692 (GRCm39) |
|
probably null |
Het |
| Htt |
G |
T |
5: 34,961,137 (GRCm39) |
V255L |
probably benign |
Het |
| L3mbtl3 |
C |
T |
10: 26,220,074 (GRCm39) |
|
probably null |
Het |
| Lmbr1l |
A |
G |
15: 98,815,777 (GRCm39) |
L9P |
probably damaging |
Het |
| Lyzl6 |
A |
T |
11: 103,525,903 (GRCm39) |
Y72* |
probably null |
Het |
| Mib1 |
A |
G |
18: 10,800,115 (GRCm39) |
E818G |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,050,715 (GRCm39) |
T6405A |
probably damaging |
Het |
| Npas3 |
A |
G |
12: 54,114,578 (GRCm39) |
D482G |
probably benign |
Het |
| Nuak2 |
C |
A |
1: 132,244,095 (GRCm39) |
A43E |
probably damaging |
Het |
| Or10ag2 |
G |
A |
2: 87,249,051 (GRCm39) |
V220I |
probably benign |
Het |
| Or4a70 |
T |
C |
2: 89,323,801 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or4f4b |
A |
T |
2: 111,313,873 (GRCm39) |
I33L |
probably benign |
Het |
| Or5an1 |
T |
C |
19: 12,261,206 (GRCm39) |
S265P |
probably damaging |
Het |
| Pde11a |
C |
A |
2: 75,821,583 (GRCm39) |
A899S |
probably benign |
Het |
| Ppfibp2 |
A |
T |
7: 107,345,629 (GRCm39) |
I884F |
possibly damaging |
Het |
| Pus7l |
A |
G |
15: 94,421,345 (GRCm39) |
V655A |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,506,897 (GRCm39) |
D273G |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,272,823 (GRCm39) |
D751G |
probably benign |
Het |
| Sdk1 |
C |
T |
5: 142,158,299 (GRCm39) |
A1863V |
probably damaging |
Het |
| Srp72 |
T |
A |
5: 77,142,062 (GRCm39) |
I372N |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tcf20 |
A |
G |
15: 82,737,438 (GRCm39) |
S1338P |
probably benign |
Het |
| Tcte1 |
G |
A |
17: 45,850,812 (GRCm39) |
V363I |
probably benign |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,407 (GRCm39) |
K54R |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,917,274 (GRCm39) |
N3706S |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,192,613 (GRCm39) |
Y430C |
probably damaging |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
| Zfp959 |
G |
A |
17: 56,202,956 (GRCm39) |
|
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 |
|
|
IGL03400:Spns3
|
APN |
11 |
72,390,501 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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 |
2015-04-16 |
Incidental Mutation