Incidental Mutation 'R0948:Spns3'
ID |
81723 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spns3
|
Ensembl Gene |
ENSMUSG00000020798 |
Gene Name |
SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative) |
Synonyms |
9830002I17Rik |
MMRRC Submission |
039087-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0948 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
72388979-72441334 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72436766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 75
(D75E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090617
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021154]
[ENSMUST00000092940]
|
AlphaFold |
Q9D232 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021154
|
SMART Domains |
Protein: ENSMUSP00000021154 Gene: ENSMUSG00000020798
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: D75E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000090617 Gene: ENSMUSG00000020798 AA Change: D75E
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.4%
- 20x: 92.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009A15Rik |
C |
T |
19: 8,867,390 (GRCm39) |
T63M |
probably damaging |
Het |
Abcb1a |
T |
A |
5: 8,790,621 (GRCm39) |
|
probably null |
Het |
Ahrr |
T |
C |
13: 74,361,888 (GRCm39) |
D537G |
probably damaging |
Het |
Anxa4 |
T |
A |
6: 86,718,913 (GRCm39) |
I269F |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,953,278 (GRCm39) |
Y401C |
probably damaging |
Het |
Atm |
A |
T |
9: 53,407,258 (GRCm39) |
M1160K |
probably benign |
Het |
Ccdc175 |
A |
G |
12: 72,177,897 (GRCm39) |
Y434H |
probably damaging |
Het |
Col19a1 |
C |
T |
1: 24,335,882 (GRCm39) |
A855T |
probably damaging |
Het |
Cyp2a4 |
A |
G |
7: 26,010,213 (GRCm39) |
D246G |
probably damaging |
Het |
Dmbt1 |
T |
C |
7: 130,694,847 (GRCm39) |
L840P |
possibly damaging |
Het |
Dock6 |
A |
T |
9: 21,712,829 (GRCm39) |
D2009E |
probably damaging |
Het |
E2f3 |
C |
T |
13: 30,169,516 (GRCm39) |
A46T |
probably damaging |
Het |
Ect2l |
A |
T |
10: 18,016,334 (GRCm39) |
C635S |
probably damaging |
Het |
Fer1l6 |
A |
G |
15: 58,435,924 (GRCm39) |
D439G |
probably benign |
Het |
Hao1 |
A |
C |
2: 134,372,693 (GRCm39) |
M105R |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,238,525 (GRCm39) |
I552T |
probably damaging |
Het |
Il31ra |
A |
G |
13: 112,666,912 (GRCm39) |
S470P |
possibly damaging |
Het |
Mfsd1 |
A |
G |
3: 67,504,067 (GRCm39) |
N353S |
possibly damaging |
Het |
Mga |
T |
A |
2: 119,772,140 (GRCm39) |
F1667I |
possibly damaging |
Het |
Niban2 |
A |
G |
2: 32,812,872 (GRCm39) |
Y480C |
probably damaging |
Het |
Nwd2 |
T |
C |
5: 63,964,655 (GRCm39) |
V1413A |
probably damaging |
Het |
Or8b1 |
T |
G |
9: 38,400,244 (GRCm39) |
S306R |
probably benign |
Het |
Or8b50 |
G |
A |
9: 38,517,787 (GRCm39) |
V9I |
possibly damaging |
Het |
Osbpl10 |
T |
A |
9: 114,996,187 (GRCm39) |
V119E |
probably damaging |
Het |
Plec |
C |
A |
15: 76,089,887 (GRCm39) |
R151L |
probably benign |
Het |
Ptpn12 |
T |
C |
5: 21,203,041 (GRCm39) |
H579R |
probably benign |
Het |
Rnase4 |
G |
T |
14: 51,342,362 (GRCm39) |
G29C |
probably damaging |
Het |
Sim1 |
C |
A |
10: 50,857,423 (GRCm39) |
S391* |
probably null |
Het |
Sobp |
A |
T |
10: 42,898,205 (GRCm39) |
I460N |
probably damaging |
Het |
Strn4 |
T |
A |
7: 16,571,638 (GRCm39) |
C26* |
probably null |
Het |
Tacstd2 |
T |
A |
6: 67,512,102 (GRCm39) |
I197L |
probably damaging |
Het |
Trpc6 |
A |
G |
9: 8,610,416 (GRCm39) |
T295A |
possibly damaging |
Het |
Txnl1 |
G |
T |
18: 63,825,191 (GRCm39) |
S18R |
possibly damaging |
Het |
U2surp |
A |
G |
9: 95,343,550 (GRCm39) |
|
probably benign |
Het |
Ube2frt |
A |
T |
12: 36,140,934 (GRCm39) |
|
probably benign |
Het |
Vwce |
A |
G |
19: 10,630,441 (GRCm39) |
Y500C |
probably damaging |
Het |
Wdr49 |
A |
C |
3: 75,358,158 (GRCm39) |
S196A |
probably benign |
Het |
Wfs1 |
T |
C |
5: 37,124,905 (GRCm39) |
Y662C |
probably damaging |
Het |
Wnt8b |
A |
C |
19: 44,498,968 (GRCm39) |
D133A |
possibly damaging |
Het |
Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
Zfp532 |
C |
A |
18: 65,756,889 (GRCm39) |
A274E |
probably damaging |
Het |
Zfp74 |
A |
G |
7: 29,635,362 (GRCm39) |
|
probably null |
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 |
IGL03400:Spns3
|
APN |
11 |
72,390,501 (GRCm39) |
missense |
possibly damaging |
0.65 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGCCAAAAGACTCAGGGACTG -3'
(R):5'- TGCAGACCCACATTCAAGCTGGAC -3'
Sequencing Primer
(F):5'- ACTCAGGGACTGGAGTCAGC -3'
(R):5'- cgggaggcagagacagg -3'
|
Posted On |
2013-11-08 |