Incidental Mutation 'IGL01733:Spns2'
| ID |
105583 |
| 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 # |
IGL01733
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
72342464-72380730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72347336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 423
(V423E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045303]
[ENSMUST00000045633]
|
| AlphaFold |
Q91VM4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045303
AA Change: V423E
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000044418
Gene: ENSMUSG00000040447
AA Change: V423E
| 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 |
probably benign
Transcript: ENSMUST00000045633
|
| SMART Domains |
Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
Pfam:DNA_pol_phi
|
70 |
835 |
1.2e-194 |
PFAM |
|
low complexity region
|
839 |
852 |
N/A |
INTRINSIC |
|
low complexity region
|
1080 |
1090 |
N/A |
INTRINSIC |
|
low complexity region
|
1109 |
1122 |
N/A |
INTRINSIC |
|
low complexity region
|
1259 |
1269 |
N/A |
INTRINSIC |
|
low complexity region
|
1314 |
1329 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129274
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000144940
AA Change: V37E
|
| SMART Domains |
Protein: ENSMUSP00000120722
Gene: ENSMUSG00000040447
AA Change: V37E
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152894
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
C |
T |
15: 91,075,817 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
G |
4: 40,175,738 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
C |
1: 146,390,541 (GRCm39) |
V29A |
probably benign |
Het |
| Brsk1 |
T |
C |
7: 4,709,071 (GRCm39) |
Y361H |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,157,869 (GRCm39) |
|
probably benign |
Het |
| Ces1f |
A |
G |
8: 93,996,642 (GRCm39) |
I217T |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,586,454 (GRCm39) |
T1856S |
possibly damaging |
Het |
| Cuedc2 |
C |
A |
19: 46,321,112 (GRCm39) |
V7F |
probably damaging |
Het |
| Cyp2d34 |
C |
T |
15: 82,502,861 (GRCm39) |
V122M |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,436,899 (GRCm39) |
S949P |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,220,517 (GRCm39) |
R554W |
probably damaging |
Het |
| Fig4 |
A |
T |
10: 41,153,389 (GRCm39) |
N137K |
possibly damaging |
Het |
| Gpr155 |
C |
T |
2: 73,183,956 (GRCm39) |
|
probably null |
Het |
| Grk6 |
A |
C |
13: 55,599,204 (GRCm39) |
N168T |
possibly damaging |
Het |
| Hfe |
T |
G |
13: 23,890,848 (GRCm39) |
K97T |
possibly damaging |
Het |
| Hsd3b2 |
C |
T |
3: 98,623,801 (GRCm39) |
E26K |
probably damaging |
Het |
| Impg1 |
A |
G |
9: 80,249,206 (GRCm39) |
S666P |
probably damaging |
Het |
| Itpkb |
T |
G |
1: 180,160,734 (GRCm39) |
S287A |
possibly damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,011,966 (GRCm39) |
D651G |
probably benign |
Het |
| Lemd3 |
C |
T |
10: 120,769,568 (GRCm39) |
W588* |
probably null |
Het |
| Lepr |
A |
G |
4: 101,622,279 (GRCm39) |
T404A |
probably benign |
Het |
| Metap1d |
A |
G |
2: 71,341,777 (GRCm39) |
I124V |
probably damaging |
Het |
| Mrpl33 |
T |
C |
5: 31,779,733 (GRCm39) |
V54A |
probably benign |
Het |
| Mybl1 |
A |
T |
1: 9,755,935 (GRCm39) |
S205T |
possibly damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,155,622 (GRCm39) |
D877V |
probably benign |
Het |
| Nxph2 |
T |
C |
2: 23,290,137 (GRCm39) |
V163A |
probably benign |
Het |
| Pakap |
G |
T |
4: 57,856,488 (GRCm39) |
V606L |
probably benign |
Het |
| Pex16 |
C |
T |
2: 92,209,173 (GRCm39) |
P192S |
probably damaging |
Het |
| Ptprq |
C |
A |
10: 107,498,460 (GRCm39) |
M872I |
probably benign |
Het |
| Ripor1 |
C |
T |
8: 106,342,378 (GRCm39) |
R150W |
possibly damaging |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Stoml3 |
A |
G |
3: 53,405,548 (GRCm39) |
I50V |
probably benign |
Het |
| Taar8c |
A |
G |
10: 23,977,155 (GRCm39) |
I219T |
possibly damaging |
Het |
| Ubap2 |
A |
C |
4: 41,195,862 (GRCm39) |
|
probably benign |
Het |
| Zfat |
T |
C |
15: 68,052,579 (GRCm39) |
D398G |
probably damaging |
Het |
|
| Other mutations in Spns2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01804:Spns2
|
APN |
11 |
72,348,130 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
2014-01-21 |
Incidental Mutation