Incidental Mutation 'IGL01804:Spns2'
ID |
155610 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spns2
|
Ensembl Gene |
ENSMUSG00000040447 |
Gene Name |
SPNS lysolipid transporter 2, sphingosine-1-phosphate |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01804
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
72342464-72380730 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72348130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 279
(I279N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044418
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045303]
|
AlphaFold |
Q91VM4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045303
AA Change: I279N
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000044418 Gene: ENSMUSG00000040447 AA Change: I279N
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
53 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
104 |
308 |
7.6e-16 |
PFAM |
Pfam:OATP
|
106 |
427 |
7.2e-13 |
PFAM |
Pfam:MFS_1
|
108 |
476 |
2.7e-37 |
PFAM |
transmembrane domain
|
506 |
528 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126452
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129274
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144940
|
SMART Domains |
Protein: ENSMUSP00000120722 Gene: ENSMUSG00000040447
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147418
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150491
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016] PHENOTYPE: Mice homozygous for a knock-out allele exhibit symblepharon and impaired egress of T and B cells from the thymus and bone marrow, respectively. Mice homozygous for a different knock-out allele exhibit abnormal immune system, abnormal eye morphology and absent pinna reflex. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,315,342 (GRCm39) |
N1860D |
probably benign |
Het |
Abca2 |
T |
A |
2: 25,336,637 (GRCm39) |
C2248S |
probably damaging |
Het |
Adamts16 |
G |
A |
13: 70,949,080 (GRCm39) |
Q194* |
probably null |
Het |
Cetn3 |
A |
T |
13: 81,932,779 (GRCm39) |
K13* |
probably null |
Het |
Cldn18 |
T |
A |
9: 99,580,901 (GRCm39) |
K116* |
probably null |
Het |
Cntn5 |
T |
A |
9: 9,831,542 (GRCm39) |
I613F |
probably damaging |
Het |
Cyp46a1 |
A |
G |
12: 108,321,745 (GRCm39) |
I324V |
probably benign |
Het |
Ddb1 |
A |
C |
19: 10,590,382 (GRCm39) |
E303A |
probably damaging |
Het |
Dnajc2 |
A |
G |
5: 21,962,361 (GRCm39) |
V539A |
probably damaging |
Het |
Dock2 |
T |
A |
11: 34,212,433 (GRCm39) |
Y1236F |
probably benign |
Het |
Dpf1 |
T |
A |
7: 29,015,926 (GRCm39) |
C383S |
probably damaging |
Het |
Edc4 |
T |
A |
8: 106,617,289 (GRCm39) |
I1052N |
possibly damaging |
Het |
Ehmt1 |
A |
G |
2: 24,681,966 (GRCm39) |
L1243P |
probably damaging |
Het |
Exoc6b |
A |
G |
6: 84,885,148 (GRCm39) |
S264P |
probably damaging |
Het |
Gbx2 |
T |
C |
1: 89,856,703 (GRCm39) |
E229G |
probably benign |
Het |
Hip1r |
T |
A |
5: 124,139,613 (GRCm39) |
|
probably null |
Het |
Lig1 |
A |
G |
7: 13,043,131 (GRCm39) |
K859E |
probably benign |
Het |
Ly6g6f |
T |
C |
17: 35,300,146 (GRCm39) |
D234G |
possibly damaging |
Het |
Mmp11 |
G |
T |
10: 75,764,304 (GRCm39) |
L54I |
probably benign |
Het |
Naip5 |
A |
T |
13: 100,358,092 (GRCm39) |
L1048Q |
probably damaging |
Het |
Or4c122 |
C |
A |
2: 89,079,566 (GRCm39) |
M157I |
probably benign |
Het |
Or6k14 |
A |
G |
1: 173,927,401 (GRCm39) |
I126V |
probably damaging |
Het |
Or7g12 |
T |
A |
9: 18,900,136 (GRCm39) |
M284K |
probably benign |
Het |
Or8g17 |
T |
C |
9: 38,930,697 (GRCm39) |
I47V |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,764,089 (GRCm39) |
D474G |
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,306,628 (GRCm39) |
Y1401H |
probably damaging |
Het |
Prrg4 |
T |
A |
2: 104,663,035 (GRCm39) |
E190D |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,333,092 (GRCm39) |
F2767S |
probably damaging |
Het |
Scgb1b2 |
T |
A |
7: 30,991,155 (GRCm39) |
|
probably benign |
Het |
Sec31a |
A |
G |
5: 100,523,065 (GRCm39) |
|
probably null |
Het |
Slc12a4 |
A |
G |
8: 106,671,033 (GRCm39) |
S1014P |
probably damaging |
Het |
Spta1 |
A |
T |
1: 174,071,746 (GRCm39) |
H2242L |
probably benign |
Het |
Tcaf3 |
T |
A |
6: 42,574,063 (GRCm39) |
I50F |
probably damaging |
Het |
Tnfaip8l1 |
G |
A |
17: 56,479,214 (GRCm39) |
S168N |
probably benign |
Het |
Trak1 |
C |
T |
9: 121,271,751 (GRCm39) |
|
probably benign |
Het |
Trpv4 |
A |
T |
5: 114,782,847 (GRCm39) |
N38K |
possibly damaging |
Het |
Ube2o |
T |
C |
11: 116,435,199 (GRCm39) |
T530A |
probably benign |
Het |
Vmn2r2 |
A |
G |
3: 64,041,677 (GRCm39) |
V346A |
possibly damaging |
Het |
Vmn2r86 |
A |
C |
10: 130,288,858 (GRCm39) |
D214E |
probably damaging |
Het |
Wwc1 |
C |
A |
11: 35,732,751 (GRCm39) |
D986Y |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,199,754 (GRCm39) |
D1184G |
probably damaging |
Het |
|
Other mutations in Spns2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01733:Spns2
|
APN |
11 |
72,347,336 (GRCm39) |
missense |
possibly damaging |
0.79 |
elderly
|
UTSW |
11 |
72,347,196 (GRCm39) |
critical splice acceptor site |
probably null |
|
homely
|
UTSW |
11 |
72,347,686 (GRCm39) |
missense |
probably damaging |
1.00 |
whistler
|
UTSW |
11 |
72,349,513 (GRCm39) |
nonsense |
probably null |
|
Wrinkled
|
UTSW |
11 |
72,347,704 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0883:Spns2
|
UTSW |
11 |
72,345,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R1544:Spns2
|
UTSW |
11 |
72,347,193 (GRCm39) |
missense |
probably benign |
0.30 |
R1696:Spns2
|
UTSW |
11 |
72,347,173 (GRCm39) |
missense |
probably benign |
0.25 |
R2046:Spns2
|
UTSW |
11 |
72,349,866 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2164:Spns2
|
UTSW |
11 |
72,349,497 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2259:Spns2
|
UTSW |
11 |
72,348,094 (GRCm39) |
missense |
probably benign |
0.35 |
R4209:Spns2
|
UTSW |
11 |
72,345,012 (GRCm39) |
missense |
probably benign |
0.07 |
R5285:Spns2
|
UTSW |
11 |
72,380,305 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6883:Spns2
|
UTSW |
11 |
72,347,196 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6990:Spns2
|
UTSW |
11 |
72,380,447 (GRCm39) |
missense |
probably benign |
0.08 |
R7221:Spns2
|
UTSW |
11 |
72,347,742 (GRCm39) |
missense |
probably benign |
0.43 |
R7227:Spns2
|
UTSW |
11 |
72,349,513 (GRCm39) |
nonsense |
probably null |
|
R7243:Spns2
|
UTSW |
11 |
72,347,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R7390:Spns2
|
UTSW |
11 |
72,347,704 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7699:Spns2
|
UTSW |
11 |
72,380,443 (GRCm39) |
nonsense |
probably null |
|
R7700:Spns2
|
UTSW |
11 |
72,380,443 (GRCm39) |
nonsense |
probably null |
|
R8042:Spns2
|
UTSW |
11 |
72,345,003 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8155:Spns2
|
UTSW |
11 |
72,347,394 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8553:Spns2
|
UTSW |
11 |
72,348,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |