Incidental Mutation 'R6179:Spns3'
| ID |
487943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spns3
|
| Ensembl Gene |
ENSMUSG00000020798 |
| Gene Name |
SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative) |
| Synonyms |
9830002I17Rik |
| MMRRC Submission |
044321-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6179 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72388979-72441334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72390349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 432
(S432P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021154]
[ENSMUST00000092940]
|
| AlphaFold |
Q9D232 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021154
AA Change: S410P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021154
Gene: ENSMUSG00000020798
AA Change: S410P
| 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: S432P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090617
Gene: ENSMUSG00000020798
AA Change: S432P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155774
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930426L09Rik |
T |
C |
2: 19,003,653 (GRCm39) |
|
probably benign |
Het |
| 4930590J08Rik |
T |
C |
6: 91,919,311 (GRCm39) |
S657P |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 110,025,080 (GRCm39) |
I988V |
probably benign |
Het |
| Acte1 |
A |
G |
7: 143,425,524 (GRCm39) |
T58A |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,270,662 (GRCm39) |
D280E |
probably benign |
Het |
| Apob |
T |
A |
12: 8,055,060 (GRCm39) |
L1353* |
probably null |
Het |
| Atp2b1 |
C |
T |
10: 98,858,691 (GRCm39) |
R222C |
probably damaging |
Het |
| AW209491 |
T |
G |
13: 14,811,668 (GRCm39) |
S174A |
possibly damaging |
Het |
| B930094E09Rik |
G |
C |
18: 31,742,911 (GRCm39) |
|
probably benign |
Het |
| Cbln3 |
G |
T |
14: 56,121,517 (GRCm39) |
P43Q |
possibly damaging |
Het |
| Ccdc181 |
A |
T |
1: 164,107,487 (GRCm39) |
T57S |
probably benign |
Het |
| Ccr2 |
A |
C |
9: 123,906,008 (GRCm39) |
N96T |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,956,837 (GRCm39) |
I868V |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,094,071 (GRCm39) |
I1535T |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,660,204 (GRCm39) |
T377S |
probably benign |
Het |
| Cpeb3 |
A |
G |
19: 37,065,853 (GRCm39) |
F439L |
probably damaging |
Het |
| Crb2 |
T |
C |
2: 37,680,269 (GRCm39) |
V399A |
probably damaging |
Het |
| Cry2 |
C |
T |
2: 92,244,187 (GRCm39) |
G329R |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,781,868 (GRCm39) |
E691G |
probably benign |
Het |
| Edil3 |
A |
T |
13: 88,970,108 (GRCm39) |
H3L |
probably benign |
Het |
| Endod1 |
T |
C |
9: 14,268,757 (GRCm39) |
I243V |
probably benign |
Het |
| Fpr3 |
G |
A |
17: 18,190,919 (GRCm39) |
W63* |
probably null |
Het |
| Gtse1 |
T |
G |
15: 85,753,158 (GRCm39) |
N424K |
possibly damaging |
Het |
| Kcnt1 |
G |
A |
2: 25,783,192 (GRCm39) |
V252M |
probably damaging |
Het |
| Kifbp |
G |
A |
10: 62,399,029 (GRCm39) |
Q130* |
probably null |
Het |
| Lmbrd2 |
T |
G |
15: 9,149,262 (GRCm39) |
I48M |
probably damaging |
Het |
| Lrrc7 |
T |
G |
3: 158,059,069 (GRCm39) |
I13L |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,822,386 (GRCm39) |
S408P |
probably benign |
Het |
| Mphosph10 |
A |
G |
7: 64,028,529 (GRCm39) |
V542A |
possibly damaging |
Het |
| Msto1 |
C |
A |
3: 88,818,254 (GRCm39) |
R331L |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,692,979 (GRCm39) |
E1425K |
probably damaging |
Het |
| Nup43 |
T |
C |
10: 7,554,437 (GRCm39) |
I340T |
probably benign |
Het |
| Or1j4 |
T |
C |
2: 36,740,846 (GRCm39) |
S263P |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,736,669 (GRCm39) |
M884K |
probably damaging |
Het |
| Phf20 |
T |
A |
2: 156,140,573 (GRCm39) |
L749H |
probably damaging |
Het |
| Pigp |
T |
C |
16: 94,171,226 (GRCm39) |
R22G |
probably null |
Het |
| Polr2b |
T |
C |
5: 77,468,824 (GRCm39) |
M200T |
probably damaging |
Het |
| Ppig |
T |
A |
2: 69,580,471 (GRCm39) |
D668E |
unknown |
Het |
| Prss3 |
G |
A |
6: 41,352,060 (GRCm39) |
R68C |
probably benign |
Het |
| Retreg3 |
G |
A |
11: 100,994,721 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
T |
C |
7: 44,006,630 (GRCm39) |
F2116L |
possibly damaging |
Het |
| Spg21 |
T |
C |
9: 65,376,090 (GRCm39) |
S33P |
possibly damaging |
Het |
| Stra6 |
A |
G |
9: 58,042,452 (GRCm39) |
E27G |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,673,320 (GRCm39) |
Q1468R |
probably benign |
Het |
| Tbce |
T |
G |
13: 14,194,362 (GRCm39) |
E99A |
probably benign |
Het |
| Tmem106b |
T |
C |
6: 13,084,252 (GRCm39) |
V252A |
probably damaging |
Het |
| Trim10 |
A |
G |
17: 37,187,923 (GRCm39) |
T380A |
probably damaging |
Het |
| Trim31 |
T |
A |
17: 37,220,501 (GRCm39) |
D472E |
probably damaging |
Het |
| Vmn2r28 |
G |
A |
7: 5,491,003 (GRCm39) |
Q415* |
probably null |
Het |
| Vwf |
G |
A |
6: 125,626,252 (GRCm39) |
C7Y |
unknown |
Het |
| Yeats2 |
C |
T |
16: 20,033,225 (GRCm39) |
P1088L |
probably benign |
Het |
| Zfp40 |
C |
A |
17: 23,397,354 (GRCm39) |
V48L |
possibly damaging |
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 |
|
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 |
|
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'- GGTGGAAGTACCTTTGCCAG -3'
(R):5'- CCAGGGCTTCTGTATTTTGCAG -3'
Sequencing Primer
(F):5'- CACAACACAGGAAGCTGT -3'
(R):5'- CTTCTGTATTTTGCAGTCCGTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation