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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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