Incidental Mutation 'R9195:Slc33a1'
ID 697894
Institutional Source Beutler Lab
Gene Symbol Slc33a1
Ensembl Gene ENSMUSG00000027822
Gene Name solute carrier family 33 (acetyl-CoA transporter), member 1
Synonyms D630022N01Rik, Acatn
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.632) question?
Stock # R9195 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 63933507-63964768 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63963767 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 142 (S142P)
Ref Sequence ENSEMBL: ENSMUSP00000029402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029402] [ENSMUST00000160883] [ENSMUST00000161659]
AlphaFold Q99J27
Predicted Effect probably damaging
Transcript: ENSMUST00000029402
AA Change: S142P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029402
Gene: ENSMUSG00000027822
AA Change: S142P

DomainStartEndE-ValueType
Pfam:Acatn 74 292 2.4e-77 PFAM
Pfam:Acatn 282 546 7.1e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160883
AA Change: S142P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125713
Gene: ENSMUSG00000027822
AA Change: S142P

DomainStartEndE-ValueType
Pfam:Acatn 74 290 6e-61 PFAM
transmembrane domain 299 321 N/A INTRINSIC
transmembrane domain 345 367 N/A INTRINSIC
Pfam:Acatn 374 547 3.7e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161659
AA Change: S142P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123986
Gene: ENSMUSG00000027822
AA Change: S142P

DomainStartEndE-ValueType
Pfam:Acatn 74 290 6e-61 PFAM
transmembrane domain 299 321 N/A INTRINSIC
transmembrane domain 345 367 N/A INTRINSIC
Pfam:Acatn 374 547 3.7e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (39/39)
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 required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a serine to arginine substitution at amino acid 113 show early embryonic growth arrest. Adult heterozygotes display aberrant inflammatory response, increased propensity to infections and malignancies, degenerative features of the PNS and CNS, and abnormal induction of autophagy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik A G 19: 29,786,303 I124T Het
Acot10 G C 15: 20,665,431 T408R probably damaging Het
Ak9 A G 10: 41,407,483 Y1310C Het
Atp6v1c1 T A 15: 38,673,954 F64I probably damaging Het
Bahcc1 A G 11: 120,276,511 E1246G probably benign Het
Brca2 T A 5: 150,539,953 S1061T possibly damaging Het
Cep83 A G 10: 94,768,939 R505G possibly damaging Het
Clasp2 A G 9: 113,841,977 E382G probably benign Het
Cnksr3 A T 10: 7,138,379 H235Q probably damaging Het
Ctsh A T 9: 90,062,762 H90L probably benign Het
Cybrd1 G A 2: 71,138,398 G205D probably damaging Het
Cyfip2 A T 11: 46,270,628 I345N probably damaging Het
Ech1 T C 7: 28,826,021 L67P probably damaging Het
Ect2l T C 10: 18,143,088 N612S probably benign Het
Gm8186 T A 17: 26,099,118 D35V probably damaging Het
Ighv1-15 T C 12: 114,657,519 H62R probably benign Het
Kcns1 A T 2: 164,167,858 L327Q probably damaging Het
Lbr T C 1: 181,836,272 K61R probably benign Het
Mrpl36 G A 13: 73,331,379 A3T unknown Het
Nectin3 G A 16: 46,458,896 R240* probably null Het
Nek10 T C 14: 14,821,139 L35P probably benign Het
Nr1d1 A G 11: 98,769,057 V547A possibly damaging Het
Obscn A T 11: 59,051,214 I4445N probably damaging Het
Olfr641 T C 7: 104,040,138 I114T probably damaging Het
Pcdhgb1 T G 18: 37,681,104 V216G probably damaging Het
Pklr T C 3: 89,141,329 S100P probably damaging Het
R3hdm1 T A 1: 128,162,238 S70T probably benign Het
Rec114 T G 9: 58,660,251 T151P probably benign Het
Riok3 TTTCATT TTT 18: 12,149,585 probably null Het
Slc4a4 T A 5: 89,133,196 N407K possibly damaging Het
Slc5a4b A G 10: 76,062,315 C522R probably damaging Het
Tcim A T 8: 24,438,862 M12K probably damaging Het
Tenm4 T A 7: 96,892,919 Y1917N probably damaging Het
Ttll1 A G 15: 83,489,578 Y345H probably benign Het
Urb1 A G 16: 90,792,750 V381A probably benign Het
Wnt16 T C 6: 22,297,933 M266T probably benign Het
Zfyve26 T C 12: 79,264,394 I1562V probably benign Het
Other mutations in Slc33a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Slc33a1 APN 3 63964012 missense probably benign
IGL01361:Slc33a1 APN 3 63943412 missense probably damaging 0.96
IGL01564:Slc33a1 APN 3 63943347 missense probably benign 0.01
IGL02027:Slc33a1 APN 3 63948141 missense probably damaging 1.00
IGL02598:Slc33a1 APN 3 63943332 missense probably benign
IGL02877:Slc33a1 APN 3 63943385 missense probably benign
IGL03196:Slc33a1 APN 3 63963730 missense possibly damaging 0.46
IGL03269:Slc33a1 APN 3 63963757 missense probably damaging 0.98
skeletor UTSW 3 63944701 missense possibly damaging 0.89
R0973:Slc33a1 UTSW 3 63943304 missense probably benign 0.02
R0973:Slc33a1 UTSW 3 63943304 missense probably benign 0.02
R0974:Slc33a1 UTSW 3 63943304 missense probably benign 0.02
R1171:Slc33a1 UTSW 3 63953894 missense probably benign
R1513:Slc33a1 UTSW 3 63963955 missense probably damaging 1.00
R1618:Slc33a1 UTSW 3 63948229 missense possibly damaging 0.66
R2038:Slc33a1 UTSW 3 63948156 missense probably damaging 1.00
R2095:Slc33a1 UTSW 3 63963955 missense probably damaging 1.00
R3927:Slc33a1 UTSW 3 63963724 missense probably benign 0.19
R5204:Slc33a1 UTSW 3 63963746 missense probably damaging 1.00
R6371:Slc33a1 UTSW 3 63943288 missense probably benign
R6425:Slc33a1 UTSW 3 63964063 missense probably benign
R6641:Slc33a1 UTSW 3 63953906 missense probably benign 0.09
R6709:Slc33a1 UTSW 3 63944701 missense possibly damaging 0.89
R6866:Slc33a1 UTSW 3 63943323 missense probably benign 0.02
R7360:Slc33a1 UTSW 3 63947654 missense possibly damaging 0.87
R7768:Slc33a1 UTSW 3 63947618 missense possibly damaging 0.69
R8560:Slc33a1 UTSW 3 63943352 missense possibly damaging 0.82
R9747:Slc33a1 UTSW 3 63954003 missense probably benign
Predicted Primers PCR Primer
(F):5'- GAAGCATAGCCCACGTTTTC -3'
(R):5'- CTTTACGTGCTTCAGGGCATTC -3'

Sequencing Primer
(F):5'- CACGTTTTCCCGGGATAACATAG -3'
(R):5'- ATTCCCTTAGGCCTGGCG -3'
Posted On 2022-02-07