Incidental Mutation 'R5041:Spns3'
| ID |
393223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spns3
|
| Ensembl Gene |
ENSMUSG00000020798 |
| Gene Name |
SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative) |
| Synonyms |
9830002I17Rik |
| MMRRC Submission |
042631-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5041 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72388979-72441334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 72427373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 306
(Q306K)
|
| 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: Q284K
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000021154
Gene: ENSMUSG00000020798
AA Change: Q284K
| 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: Q306K
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000090617
Gene: ENSMUSG00000020798
AA Change: Q306K
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
G |
16: 56,550,711 (GRCm39) |
F667S |
probably benign |
Het |
| Akna |
A |
G |
4: 63,305,381 (GRCm39) |
Y462H |
possibly damaging |
Het |
| Anxa11 |
G |
T |
14: 25,875,188 (GRCm39) |
E278* |
probably null |
Het |
| Ap3s2 |
T |
C |
7: 79,570,267 (GRCm39) |
Y20C |
probably benign |
Het |
| Atxn7 |
T |
C |
14: 14,096,317 (GRCm38) |
|
probably null |
Het |
| AW551984 |
T |
C |
9: 39,511,894 (GRCm39) |
Y39C |
probably damaging |
Het |
| Becn1 |
A |
T |
11: 101,179,662 (GRCm39) |
S442T |
probably benign |
Het |
| Bhlhe40 |
C |
T |
6: 108,639,546 (GRCm39) |
T108I |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,432,593 (GRCm39) |
D252G |
probably damaging |
Het |
| Cpxm1 |
A |
G |
2: 130,235,990 (GRCm39) |
S391P |
probably damaging |
Het |
| Ctnna2 |
T |
A |
6: 76,892,746 (GRCm39) |
N814Y |
probably damaging |
Het |
| Ddx3y |
T |
A |
Y: 1,266,611 (GRCm39) |
Y282F |
probably benign |
Het |
| Ddx56 |
A |
G |
11: 6,214,178 (GRCm39) |
V357A |
probably damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,278,878 (GRCm39) |
C534W |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,636,097 (GRCm39) |
N621D |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,336,327 (GRCm39) |
I1624N |
possibly damaging |
Het |
| Htr7 |
A |
C |
19: 36,034,467 (GRCm39) |
W63G |
probably benign |
Het |
| Ly6g6c |
T |
A |
17: 35,284,428 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,290,839 (GRCm39) |
|
probably null |
Het |
| Mfrp |
A |
G |
9: 44,013,575 (GRCm39) |
D62G |
probably damaging |
Het |
| Ncam1 |
T |
C |
9: 49,478,085 (GRCm39) |
Y173C |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,431,683 (GRCm39) |
V1185A |
possibly damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,265 (GRCm39) |
C168* |
probably null |
Het |
| Or51h7 |
T |
C |
7: 102,591,785 (GRCm39) |
|
probably null |
Het |
| Pcf11 |
G |
A |
7: 92,307,613 (GRCm39) |
P852S |
probably benign |
Het |
| Pramel25 |
T |
C |
4: 143,520,260 (GRCm39) |
V4A |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,327,071 (GRCm39) |
I63V |
probably benign |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
T |
C |
14: 75,287,572 (GRCm39) |
F619L |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,087,880 (GRCm39) |
Q247L |
probably damaging |
Het |
| Spmap2l |
A |
G |
5: 77,203,928 (GRCm39) |
T319A |
probably benign |
Het |
| Sstr1 |
T |
C |
12: 58,259,941 (GRCm39) |
V188A |
possibly damaging |
Het |
| Supt5 |
A |
T |
7: 28,014,805 (GRCm39) |
L1024Q |
probably damaging |
Het |
| Tent4b |
CCCAACAACGCCAACAA |
CCCAACAA |
8: 88,981,878 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,237,836 (GRCm39) |
H3452Q |
probably benign |
Het |
| Usp28 |
A |
G |
9: 48,949,073 (GRCm39) |
Q864R |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,247,806 (GRCm39) |
T786A |
probably damaging |
Het |
| Yy1 |
TCACCACCACCACCACCACCACCACCACC |
TCACCACCACCACCACCACCACCACCACCACC |
12: 108,759,557 (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 |
|
|
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 |
|
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 |
|
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'- CCAGGCTCATTCAAAGCTGG -3'
(R):5'- ATCGTTAGGAAGGCTGCATCC -3'
Sequencing Primer
(F):5'- GGAAACTTAAGCCCGCTCTTG -3'
(R):5'- GTGGTCAGGCACTTGTAGC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation