Incidental Mutation 'R5259:Slc35a1'
Institutional Source Beutler Lab
Gene Symbol Slc35a1
Ensembl Gene ENSMUSG00000028293
Gene Namesolute carrier family 35 (CMP-sialic acid transporter), member 1
MMRRC Submission 042856-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5259 (G1)
Quality Score225
Status Validated
Chromosomal Location34663257-34687438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 34683322 bp
Amino Acid Change Valine to Methionine at position 53 (V53M)
Ref Sequence ENSEMBL: ENSMUSP00000029970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029970]
Predicted Effect probably benign
Transcript: ENSMUST00000029970
AA Change: V53M

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029970
Gene: ENSMUSG00000028293
AA Change: V53M

Pfam:Nuc_sug_transp 8 314 6.4e-125 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124456
Predicted Effect unknown
Transcript: ENSMUST00000126033
AA Change: V16M
SMART Domains Protein: ENSMUSP00000119125
Gene: ENSMUSG00000028293
AA Change: V16M

Pfam:Nuc_sug_transp 1 250 1.2e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157713
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (68/68)
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 found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029J07Rik T C 8: 45,962,336 E211G probably benign Het
2310035C23Rik A G 1: 105,721,376 S747G probably benign Het
Abhd18 A C 3: 40,916,890 T50P probably damaging Het
Adam5 T A 8: 24,810,834 L226F possibly damaging Het
Adi1 T C 12: 28,675,545 probably benign Het
Apc T C 18: 34,314,290 V1379A probably benign Het
Atp13a4 G A 16: 29,456,610 T352M probably damaging Het
Baat T A 4: 49,490,070 N338I probably benign Het
Bdnf A G 2: 109,723,982 T234A probably benign Het
Catsperd A C 17: 56,660,235 T539P possibly damaging Het
Cd109 A T 9: 78,710,152 T1311S probably benign Het
Ceacam18 T C 7: 43,637,112 probably null Het
Chsy3 T A 18: 59,410,246 S819T probably damaging Het
Col4a4 G T 1: 82,453,893 R1557S unknown Het
Ddx18 A G 1: 121,567,789 probably null Het
Depdc5 C T 5: 32,938,291 P824L probably damaging Het
Fam13c C G 10: 70,441,063 A17G probably benign Het
Fermt1 T C 2: 132,906,765 Y646C probably damaging Het
Fra10ac1 A G 19: 38,199,662 S229P probably benign Het
Gbp8 A T 5: 105,050,979 H23Q probably benign Het
Gdf2 T C 14: 33,944,831 V170A probably benign Het
Gm15723 T C 10: 114,816,817 noncoding transcript Het
Gm4788 C T 1: 139,740,495 C300Y probably damaging Het
Gm5415 A T 1: 32,545,517 C437* probably null Het
Gm815 G A 19: 26,886,406 V16I unknown Het
Ighv1-75 T A 12: 115,834,177 K42* probably null Het
Isx A G 8: 74,892,845 T222A probably benign Het
Itgax G A 7: 128,148,278 D1018N probably damaging Het
Kcnc4 A G 3: 107,448,085 F349S probably damaging Het
Lama3 A C 18: 12,465,508 S991R probably damaging Het
Larp4b C T 13: 9,158,184 A398V probably damaging Het
Ltbp1 A G 17: 75,363,362 N1466S probably benign Het
Metrn A T 17: 25,796,540 L67Q probably damaging Het
Morc1 G A 16: 48,630,769 R937Q probably benign Het
Mta3 A G 17: 83,804,574 Y577C probably damaging Het
Nalcn A G 14: 123,515,651 F308L possibly damaging Het
Nat8 A T 6: 85,830,891 S87T probably benign Het
Olfr319 A G 11: 58,701,952 N84D probably benign Het
Olfr319 A C 11: 58,701,953 N84T possibly damaging Het
Olfr857 A G 9: 19,712,813 probably null Het
Oplah A T 15: 76,301,210 probably null Het
Pcdh15 A T 10: 74,396,372 I668L possibly damaging Het
Pecr A G 1: 72,277,285 probably null Het
Plxna4 T C 6: 32,517,021 E220G possibly damaging Het
Pnmal2 A G 7: 16,945,274 K61R unknown Het
Prl8a6 C T 13: 27,436,196 W81* probably null Het
Rab33b C T 3: 51,484,612 probably benign Het
Rbm33 T A 5: 28,352,774 probably null Het
Reln C T 5: 22,103,397 V325M possibly damaging Het
Rheb A C 5: 24,803,745 D158E probably benign Het
Rhebl1 T A 15: 98,880,583 probably benign Het
Rmdn2 T A 17: 79,668,017 Y312N probably damaging Het
Scamp1 T G 13: 94,232,086 N58T probably benign Het
Slc35f3 A T 8: 126,389,133 L266F probably damaging Het
Slc45a2 C T 15: 11,027,785 T480I probably damaging Het
Ticrr T A 7: 79,694,723 S1445R probably benign Het
Ttc23l T C 15: 10,515,150 N381D probably damaging Het
Usp17ld T A 7: 103,250,574 K384* probably null Het
Vmn1r20 T A 6: 57,432,065 Y125* probably null Het
Zfp738 G T 13: 67,669,686 Q729K probably benign Het
Zfp770 T A 2: 114,197,193 M132L probably benign Het
Other mutations in Slc35a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01575:Slc35a1 APN 4 34668932 missense probably benign 0.09
IGL02185:Slc35a1 APN 4 34675584 missense probably benign 0.08
PIT4581001:Slc35a1 UTSW 4 34669501 missense possibly damaging 0.78
R0256:Slc35a1 UTSW 4 34668962 missense probably benign 0.01
R0271:Slc35a1 UTSW 4 34664125 missense probably benign 0.00
R1993:Slc35a1 UTSW 4 34675181 missense probably damaging 0.99
R4583:Slc35a1 UTSW 4 34664146 missense probably benign
R5759:Slc35a1 UTSW 4 34675032 missense probably benign 0.04
R7410:Slc35a1 UTSW 4 34675034 missense probably benign 0.00
R7663:Slc35a1 UTSW 4 34675493 missense possibly damaging 0.92
R7671:Slc35a1 UTSW 4 34673875 missense
R7785:Slc35a1 UTSW 4 34675148 missense probably damaging 0.96
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-07-06