Incidental Mutation 'R1554:Slc35d3'
ID 170161
Institutional Source Beutler Lab
Gene Symbol Slc35d3
Ensembl Gene ENSMUSG00000050473
Gene Name solute carrier family 35, member D3
Synonyms Frcl1, 6230421J19Rik
MMRRC Submission 039593-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R1554 (G1)
Quality Score 113
Status Not validated
Chromosome 10
Chromosomal Location 19723662-19727205 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 19726483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 96 (L96M)
Ref Sequence ENSEMBL: ENSMUSP00000060589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020182] [ENSMUST00000059805]
AlphaFold Q8BGF8
Predicted Effect probably benign
Transcript: ENSMUST00000020182
SMART Domains Protein: ENSMUSP00000020182
Gene: ENSMUSG00000020003

DomainStartEndE-ValueType
WD40 52 91 9.24e-4 SMART
WD40 95 136 6.14e-9 SMART
WD40 139 179 8.55e-8 SMART
WD40 182 222 3.5e-4 SMART
WD40 226 266 1.3e-7 SMART
WD40 270 310 6.66e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000059805
AA Change: L96M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060589
Gene: ENSMUSG00000050473
AA Change: L96M

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 47 64 N/A INTRINSIC
low complexity region 84 96 N/A INTRINSIC
transmembrane domain 101 123 N/A INTRINSIC
transmembrane domain 130 152 N/A INTRINSIC
transmembrane domain 156 175 N/A INTRINSIC
transmembrane domain 187 209 N/A INTRINSIC
transmembrane domain 224 246 N/A INTRINSIC
transmembrane domain 253 275 N/A INTRINSIC
transmembrane domain 280 302 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit decreased platelet serotonin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,886,302 (GRCm39) D70E possibly damaging Het
Adamts7 A T 9: 90,055,703 (GRCm39) D152V probably damaging Het
Api5 T C 2: 94,255,988 (GRCm39) D233G probably benign Het
Btaf1 A G 19: 36,973,998 (GRCm39) D1390G probably benign Het
Cep135 G A 5: 76,782,060 (GRCm39) W893* probably null Het
Cgas A T 9: 78,342,838 (GRCm39) S321R probably damaging Het
Cmtm6 T A 9: 114,575,550 (GRCm39) V153D possibly damaging Het
Dnah11 C T 12: 118,046,234 (GRCm39) V1735I possibly damaging Het
Dnm1l T C 16: 16,159,290 (GRCm39) N104S probably benign Het
Dpyd A T 3: 118,858,695 (GRCm39) probably null Het
Dtx1 T C 5: 120,821,386 (GRCm39) K387R probably damaging Het
Ercc4 A G 16: 12,965,486 (GRCm39) D706G probably damaging Het
Fat2 T C 11: 55,144,490 (GRCm39) N4128S probably benign Het
Gm42669 T A 5: 107,655,653 (GRCm39) C639S possibly damaging Het
Grk3 T A 5: 113,117,135 (GRCm39) I89L possibly damaging Het
Grm8 A T 6: 28,125,852 (GRCm39) D91E probably benign Het
Havcr1 C A 11: 46,643,334 (GRCm39) H85N probably benign Het
Il12rb1 G A 8: 71,266,016 (GRCm39) probably null Het
Kif3a A G 11: 53,489,154 (GRCm39) K117E probably damaging Het
Kitl T A 10: 99,923,300 (GRCm39) F15L probably benign Het
Ktn1 T G 14: 47,932,964 (GRCm39) L706R probably damaging Het
Lipg T C 18: 75,081,118 (GRCm39) Y321C probably damaging Het
Mapk8ip3 T C 17: 25,122,033 (GRCm39) D710G probably benign Het
Mchr1 A G 15: 81,120,021 (GRCm39) N16S probably benign Het
Myadml2 A T 11: 120,538,553 (GRCm39) L94* probably null Het
Npr3 C A 15: 11,848,649 (GRCm39) M439I probably benign Het
Obscn A G 11: 58,894,474 (GRCm39) I6677T unknown Het
Ogn A C 13: 49,774,520 (GRCm39) D221A probably benign Het
Or8b40 T C 9: 38,027,230 (GRCm39) I46T probably benign Het
Pard3b C A 1: 62,677,053 (GRCm39) Q1195K probably damaging Het
Pcsk4 T C 10: 80,157,785 (GRCm39) E608G probably benign Het
Pdlim1 T C 19: 40,211,516 (GRCm39) D259G probably benign Het
Per1 T C 11: 68,994,453 (GRCm39) S526P probably damaging Het
Pfkfb2 A G 1: 130,634,209 (GRCm39) V156A probably damaging Het
Ppp4r3a A T 12: 101,022,081 (GRCm39) D307E probably damaging Het
Rims4 T C 2: 163,721,042 (GRCm39) S70G probably damaging Het
Rnf213 T C 11: 119,332,665 (GRCm39) F2625L probably benign Het
Sap130 T C 18: 31,799,525 (GRCm39) L334P probably damaging Het
Slc16a10 T C 10: 39,952,796 (GRCm39) I233V probably benign Het
Slc16a7 A C 10: 125,066,791 (GRCm39) F283V possibly damaging Het
Slc25a24 T C 3: 109,043,586 (GRCm39) M81T probably benign Het
Slc30a9 A G 5: 67,484,264 (GRCm39) R134G probably damaging Het
Slc7a11 C T 3: 50,336,345 (GRCm39) G333D probably damaging Het
Stam T C 2: 14,146,639 (GRCm39) S446P probably benign Het
Stk38 T A 17: 29,198,206 (GRCm39) N248I possibly damaging Het
Tasor2 A G 13: 3,626,374 (GRCm39) V1192A possibly damaging Het
Tle6 A C 10: 81,431,219 (GRCm39) S221A probably benign Het
Tmprss11b G A 5: 86,809,490 (GRCm39) T334I probably benign Het
Tmprss11c T A 5: 86,437,119 (GRCm39) M1L possibly damaging Het
Tpm1 T C 9: 66,930,711 (GRCm39) H262R probably benign Het
Tspan33 T C 6: 29,711,081 (GRCm39) S118P possibly damaging Het
Tyk2 A G 9: 21,019,218 (GRCm39) V1068A probably damaging Het
Ubr2 T C 17: 47,283,877 (GRCm39) I591V probably benign Het
Utp20 A T 10: 88,600,599 (GRCm39) Y38* probably null Het
Vmn1r217 A T 13: 23,298,464 (GRCm39) I146N possibly damaging Het
Zfp608 T C 18: 55,031,126 (GRCm39) Y938C probably damaging Het
Other mutations in Slc35d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0080:Slc35d3 UTSW 10 19,724,944 (GRCm39) missense probably damaging 1.00
R1618:Slc35d3 UTSW 10 19,724,909 (GRCm39) missense probably benign 0.42
R2867:Slc35d3 UTSW 10 19,725,209 (GRCm39) missense probably benign
R2867:Slc35d3 UTSW 10 19,725,209 (GRCm39) missense probably benign
R3930:Slc35d3 UTSW 10 19,724,605 (GRCm39) missense probably damaging 1.00
R4393:Slc35d3 UTSW 10 19,725,352 (GRCm39) splice site probably null
R4627:Slc35d3 UTSW 10 19,725,077 (GRCm39) missense probably damaging 1.00
R6540:Slc35d3 UTSW 10 19,725,086 (GRCm39) missense possibly damaging 0.94
R7804:Slc35d3 UTSW 10 19,725,116 (GRCm39) missense probably damaging 1.00
R9534:Slc35d3 UTSW 10 19,725,116 (GRCm39) missense probably damaging 1.00
Z1176:Slc35d3 UTSW 10 19,726,329 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACTCAAAGCTCCCTGCCTCAGTATC -3'
(R):5'- TGCTCAAGTTCCTCATCAGCCG -3'

Sequencing Primer
(F):5'- TATCCCCATCTGGCAGTGAG -3'
(R):5'- ATCAGCCGCTACCAGTTC -3'
Posted On 2014-04-13