Incidental Mutation 'R6866:Slc33a1'
ID 535903
Institutional Source Beutler Lab
Gene Symbol Slc33a1
Ensembl Gene ENSMUSG00000027822
Gene Name solute carrier family 33 (acetyl-CoA transporter), member 1
Synonyms Acatn, D630022N01Rik
MMRRC Submission 044965-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.687) question?
Stock # R6866 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 63849744-63872154 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63850744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 527 (F527I)
Ref Sequence ENSEMBL: ENSMUSP00000125713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029402] [ENSMUST00000160883] [ENSMUST00000161659]
AlphaFold Q99J27
Predicted Effect probably benign
Transcript: ENSMUST00000029402
AA Change: F527I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000029402
Gene: ENSMUSG00000027822
AA Change: F527I

DomainStartEndE-ValueType
Pfam:Acatn 74 292 2.4e-77 PFAM
Pfam:Acatn 282 546 7.1e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160883
AA Change: F527I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000125713
Gene: ENSMUSG00000027822
AA Change: F527I

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 benign
Transcript: ENSMUST00000161659
AA Change: F527I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000123986
Gene: ENSMUSG00000027822
AA Change: F527I

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: 99.3%
  • 20x: 97.7%
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 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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,598,080 (GRCm39) T1438A possibly damaging Het
Als2 T A 1: 59,250,292 (GRCm39) Q484L probably damaging Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Bcl2l13 T A 6: 120,839,850 (GRCm39) N49K probably benign Het
Bptf T C 11: 106,964,406 (GRCm39) D1596G probably damaging Het
Brsk1 T C 7: 4,709,406 (GRCm39) M325T probably damaging Het
Caly T C 7: 139,650,532 (GRCm39) M137V probably benign Het
Cdca2 T C 14: 67,931,115 (GRCm39) E526G possibly damaging Het
Cnga4 A G 7: 105,056,952 (GRCm39) S352G possibly damaging Het
Cntnap5c A C 17: 58,399,289 (GRCm39) T381P probably benign Het
Cr2 T A 1: 194,833,999 (GRCm39) Y633F probably damaging Het
Cryba1 T C 11: 77,610,355 (GRCm39) N120S probably benign Het
Cyfip2 G A 11: 46,133,286 (GRCm39) R805* probably null Het
Dnah7c C A 1: 46,696,403 (GRCm39) P2095Q probably damaging Het
Eif3k T C 7: 28,676,651 (GRCm39) E110G possibly damaging Het
Extl2 T A 3: 115,821,002 (GRCm39) M283K probably damaging Het
Extl2 A G 3: 115,821,001 (GRCm39) M283V probably damaging Het
Focad T C 4: 88,321,623 (GRCm39) I1658T probably benign Het
Fstl5 A T 3: 76,229,532 (GRCm39) H111L probably damaging Het
Garnl3 A G 2: 32,892,785 (GRCm39) probably null Het
Gm3633 T A 14: 42,462,579 (GRCm39) probably benign Het
Il4i1 T A 7: 44,485,963 (GRCm39) probably null Het
Kcnj6 A T 16: 94,563,536 (GRCm39) C321S probably damaging Het
Kif20a A T 18: 34,761,546 (GRCm39) Y313F probably benign Het
Kmt2d T G 15: 98,755,274 (GRCm39) probably benign Het
Kynu T A 2: 43,453,122 (GRCm39) Y48* probably null Het
Ly9 T C 1: 171,432,847 (GRCm39) I55M probably damaging Het
Mgme1 T C 2: 144,118,439 (GRCm39) V237A probably damaging Het
Mmp16 T A 4: 17,853,800 (GRCm39) L27H probably benign Het
Mtres1 ACTGCACCACCT ACT 10: 43,408,721 (GRCm39) probably benign Het
Myh1 A C 11: 67,115,219 (GRCm39) D1918A probably damaging Het
Myo5a G A 9: 75,047,970 (GRCm39) C266Y probably damaging Het
Nckap5l A G 15: 99,324,349 (GRCm39) I718T probably benign Het
Nptx1 A G 11: 119,437,476 (GRCm39) probably null Het
Or56a42-ps1 T A 7: 104,775,825 (GRCm39) M228L probably benign Het
Or5k16 A G 16: 58,736,351 (GRCm39) Y218H probably damaging Het
Or5p76 A G 7: 108,122,377 (GRCm39) F260S probably damaging Het
Phc3 T A 3: 30,968,680 (GRCm39) K783* probably null Het
Pkdrej A T 15: 85,705,082 (GRCm39) C285S probably damaging Het
Pot1b T A 17: 55,960,474 (GRCm39) T619S possibly damaging Het
Pramel32 T A 4: 88,545,977 (GRCm39) D455V probably damaging Het
Psg21 A T 7: 18,386,209 (GRCm39) V259E probably damaging Het
Pvr A C 7: 19,652,555 (GRCm39) I120S probably benign Het
Rbm17 T G 2: 11,602,901 (GRCm39) I68L probably benign Het
Rnf138 C T 18: 21,135,199 (GRCm39) P28L probably damaging Het
Rnf207 C T 4: 152,396,989 (GRCm39) C385Y possibly damaging Het
Serping1 A C 2: 84,600,577 (GRCm39) V255G probably benign Het
Slc25a3 A T 10: 90,955,567 (GRCm39) V91E probably damaging Het
Slc26a8 T C 17: 28,857,455 (GRCm39) D896G probably benign Het
Slc27a5 T A 7: 12,731,443 (GRCm39) T183S probably benign Het
Sting1 T C 18: 35,872,482 (GRCm39) H50R probably damaging Het
Strn4 A T 7: 16,562,710 (GRCm39) D283V probably damaging Het
Sult1e1 G A 5: 87,734,625 (GRCm39) T107I probably damaging Het
Tango6 G A 8: 107,469,104 (GRCm39) probably null Het
Tecrl G T 5: 83,461,161 (GRCm39) P99T probably damaging Het
Ticrr T C 7: 79,343,705 (GRCm39) L1190P possibly damaging Het
Timm50 C T 7: 28,005,370 (GRCm39) R349H probably damaging Het
Tjp2 A G 19: 24,079,355 (GRCm39) I840T probably damaging Het
Tmem45a2 T A 16: 56,867,386 (GRCm39) N105I probably damaging Het
Tsbp1 T A 17: 34,678,935 (GRCm39) C216S possibly damaging Het
Zfp148 T A 16: 33,288,496 (GRCm39) C162S probably damaging Het
Zfp534 T C 4: 147,758,938 (GRCm39) K577R probably benign Het
Other mutations in Slc33a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Slc33a1 APN 3 63,871,433 (GRCm39) missense probably benign
IGL01361:Slc33a1 APN 3 63,850,833 (GRCm39) missense probably damaging 0.96
IGL01564:Slc33a1 APN 3 63,850,768 (GRCm39) missense probably benign 0.01
IGL02027:Slc33a1 APN 3 63,855,562 (GRCm39) missense probably damaging 1.00
IGL02598:Slc33a1 APN 3 63,850,753 (GRCm39) missense probably benign
IGL02877:Slc33a1 APN 3 63,850,806 (GRCm39) missense probably benign
IGL03196:Slc33a1 APN 3 63,871,151 (GRCm39) missense possibly damaging 0.46
IGL03269:Slc33a1 APN 3 63,871,178 (GRCm39) missense probably damaging 0.98
skeletor UTSW 3 63,852,122 (GRCm39) missense possibly damaging 0.89
R0973:Slc33a1 UTSW 3 63,850,725 (GRCm39) missense probably benign 0.02
R0973:Slc33a1 UTSW 3 63,850,725 (GRCm39) missense probably benign 0.02
R0974:Slc33a1 UTSW 3 63,850,725 (GRCm39) missense probably benign 0.02
R1171:Slc33a1 UTSW 3 63,861,315 (GRCm39) missense probably benign
R1513:Slc33a1 UTSW 3 63,871,376 (GRCm39) missense probably damaging 1.00
R1618:Slc33a1 UTSW 3 63,855,650 (GRCm39) missense possibly damaging 0.66
R2038:Slc33a1 UTSW 3 63,855,577 (GRCm39) missense probably damaging 1.00
R2095:Slc33a1 UTSW 3 63,871,376 (GRCm39) missense probably damaging 1.00
R3927:Slc33a1 UTSW 3 63,871,145 (GRCm39) missense probably benign 0.19
R5204:Slc33a1 UTSW 3 63,871,167 (GRCm39) missense probably damaging 1.00
R6371:Slc33a1 UTSW 3 63,850,709 (GRCm39) missense probably benign
R6425:Slc33a1 UTSW 3 63,871,484 (GRCm39) missense probably benign
R6641:Slc33a1 UTSW 3 63,861,327 (GRCm39) missense probably benign 0.09
R6709:Slc33a1 UTSW 3 63,852,122 (GRCm39) missense possibly damaging 0.89
R7360:Slc33a1 UTSW 3 63,855,075 (GRCm39) missense possibly damaging 0.87
R7768:Slc33a1 UTSW 3 63,855,039 (GRCm39) missense possibly damaging 0.69
R8560:Slc33a1 UTSW 3 63,850,773 (GRCm39) missense possibly damaging 0.82
R9195:Slc33a1 UTSW 3 63,871,188 (GRCm39) missense probably damaging 1.00
R9747:Slc33a1 UTSW 3 63,861,424 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGTTGTTTCCTAGCCTTAAGTAAAC -3'
(R):5'- TTAGGCCATCTGAGACCCTG -3'

Sequencing Primer
(F):5'- ACATCTGTACTTTTCAACTATTTGGC -3'
(R):5'- AAACTTGGAGGCTCGTGT -3'
Posted On 2018-10-18