Incidental Mutation 'R9407:Slc35a1'
ID 711580
Institutional Source Beutler Lab
Gene Symbol Slc35a1
Ensembl Gene ENSMUSG00000028293
Gene Name solute carrier family 35 (CMP-sialic acid transporter), member 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9407 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 34663257-34687438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34675181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 119 (V119E)
Ref Sequence ENSEMBL: ENSMUSP00000029970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029970]
AlphaFold Q61420
Predicted Effect probably damaging
Transcript: ENSMUST00000029970
AA Change: V119E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029970
Gene: ENSMUSG00000028293
AA Change: V119E

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 8 314 6.4e-125 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000119125
Gene: ENSMUSG00000028293
AA Change: V82E

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 1 250 1.2e-86 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik T C 14: 64,223,629 (GRCm39) Y49C probably damaging Het
Abca6 A T 11: 110,093,210 (GRCm39) L1021* probably null Het
Abcc9 A G 6: 142,574,229 (GRCm39) S1003P possibly damaging Het
Aldh4a1 A G 4: 139,372,345 (GRCm39) I505V probably benign Het
Brwd1 T C 16: 95,803,693 (GRCm39) D2159G possibly damaging Het
C1s2 T C 6: 124,602,454 (GRCm39) I586V probably benign Het
Cd300e C A 11: 114,946,171 (GRCm39) D97Y probably damaging Het
Celsr3 A G 9: 108,723,596 (GRCm39) D2877G probably damaging Het
Cep41 T C 6: 30,655,841 (GRCm39) N328D probably benign Het
Cldn15 G A 5: 137,003,765 (GRCm39) V227M probably damaging Het
Clec10a T G 11: 70,060,155 (GRCm39) I98S probably damaging Het
Cpne4 A G 9: 104,749,963 (GRCm39) Q89R probably damaging Het
Cryba2 C A 1: 74,932,037 (GRCm39) A4S probably benign Het
Csmd2 G A 4: 128,442,613 (GRCm39) A3222T Het
Dapk1 C A 13: 60,898,991 (GRCm39) Y820* probably null Het
Efcab5 G A 11: 77,022,934 (GRCm39) T593I probably damaging Het
Entrep3 C A 3: 89,094,645 (GRCm39) A416D possibly damaging Het
Gar1 A G 3: 129,620,608 (GRCm39) Y160H probably damaging Het
Gm21834 T A 17: 58,048,863 (GRCm39) I118L probably benign Het
Gtf2a1l G A 17: 89,001,531 (GRCm39) G129D probably damaging Het
Gzmb T A 14: 56,497,712 (GRCm39) Y176F probably benign Het
Helz2 T G 2: 180,881,975 (GRCm39) K273Q probably benign Het
Ifi207 T A 1: 173,555,234 (GRCm39) E816V probably damaging Het
Insr A C 8: 3,235,106 (GRCm39) D694E probably benign Het
Insyn2b G A 11: 34,352,072 (GRCm39) R38Q probably damaging Het
Ipcef1 A T 10: 6,870,036 (GRCm39) C172* probably null Het
Itgal T G 7: 126,921,796 (GRCm39) probably null Het
Laptm5 A T 4: 130,655,990 (GRCm39) M103L Het
Lypd4 A T 7: 24,566,160 (GRCm39) C55S probably null Het
Mccc1 A C 3: 36,030,865 (GRCm39) H400Q possibly damaging Het
Myl4 C T 11: 104,474,887 (GRCm39) R79W probably damaging Het
Myo18a A G 11: 77,709,596 (GRCm39) T569A probably benign Het
Or14a259 G C 7: 86,013,194 (GRCm39) S117* probably null Het
Or4c117 T A 2: 88,955,629 (GRCm39) T149S probably benign Het
Or5ak24 A G 2: 85,261,060 (GRCm39) S38P probably damaging Het
Otof T A 5: 30,538,265 (GRCm39) D1153V probably damaging Het
Pcdha12 A T 18: 37,153,614 (GRCm39) D111V probably damaging Het
Pomt2 G T 12: 87,157,146 (GRCm39) F724L probably damaging Het
Ros1 T A 10: 51,994,491 (GRCm39) Y1284F probably damaging Het
Skint6 T C 4: 113,034,224 (GRCm39) K301R possibly damaging Het
Slc30a5 T A 13: 100,951,214 (GRCm39) R223* probably null Het
Slc6a11 A T 6: 114,220,914 (GRCm39) I482F probably damaging Het
Tektl1 T C 10: 78,583,128 (GRCm39) T419A probably damaging Het
Tgm1 A T 14: 55,942,991 (GRCm39) C616* probably null Het
Tiam2 T A 17: 3,553,298 (GRCm39) I1125N probably damaging Het
Tln2 T C 9: 67,136,732 (GRCm39) D1251G probably damaging Het
Tnfaip2 C G 12: 111,412,161 (GRCm39) S187R probably benign Het
Ush2a A G 1: 188,644,045 (GRCm39) Y4469C probably damaging Het
Vmn1r229 G C 17: 21,035,259 (GRCm39) C168S probably damaging Het
Vmn2r53 A G 7: 12,335,124 (GRCm39) S179P probably damaging Het
Zfp474 A C 18: 52,771,502 (GRCm39) I52L probably benign Het
Other mutations in Slc35a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01575:Slc35a1 APN 4 34,668,932 (GRCm39) missense probably benign 0.09
IGL02185:Slc35a1 APN 4 34,675,584 (GRCm39) missense probably benign 0.08
BB004:Slc35a1 UTSW 4 34,669,021 (GRCm39) missense probably damaging 0.98
BB014:Slc35a1 UTSW 4 34,669,021 (GRCm39) missense probably damaging 0.98
PIT4581001:Slc35a1 UTSW 4 34,669,501 (GRCm39) missense possibly damaging 0.78
R0256:Slc35a1 UTSW 4 34,668,962 (GRCm39) missense probably benign 0.01
R0271:Slc35a1 UTSW 4 34,664,125 (GRCm39) missense probably benign 0.00
R1993:Slc35a1 UTSW 4 34,675,181 (GRCm39) missense probably damaging 0.99
R4583:Slc35a1 UTSW 4 34,664,146 (GRCm39) missense probably benign
R5259:Slc35a1 UTSW 4 34,683,322 (GRCm39) missense probably benign 0.14
R5759:Slc35a1 UTSW 4 34,675,032 (GRCm39) missense probably benign 0.04
R7410:Slc35a1 UTSW 4 34,675,034 (GRCm39) missense probably benign 0.00
R7663:Slc35a1 UTSW 4 34,675,493 (GRCm39) missense possibly damaging 0.92
R7671:Slc35a1 UTSW 4 34,673,875 (GRCm39) missense
R7785:Slc35a1 UTSW 4 34,675,148 (GRCm39) missense probably damaging 0.96
R7927:Slc35a1 UTSW 4 34,669,021 (GRCm39) missense probably damaging 0.98
R7971:Slc35a1 UTSW 4 34,664,161 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTTACGTTCATCCGAGTGACC -3'
(R):5'- GGTAGTGCATGCCACCATTC -3'

Sequencing Primer
(F):5'- CAGGACAGGTGCTGTGTGAG -3'
(R):5'- GCTACATAGCGAGATCCTGTC -3'
Posted On 2022-05-16