Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Slc33a1'

82927

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

039102-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.650) question?

Stock #

R0973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63933507-63964768 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63943304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 533 (F533S)

Ref Sequence

ENSEMBL: ENSMUSP00000123986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029402] [ENSMUST00000160883] [ENSMUST00000161659]

AlphaFold

Q99J27

Predicted Effect

probably benign
Transcript: ENSMUST00000029402
AA Change: F533S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000029402
Gene: ENSMUSG00000027822
AA Change: F533S

Domain	Start	End	E-Value	Type
Pfam:Acatn	74	292	2.4e-77	PFAM
Pfam:Acatn	282	546	7.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160883
AA Change: F533S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125713
Gene: ENSMUSG00000027822
AA Change: F533S

Domain	Start	End	E-Value	Type
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: F533S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000123986
Gene: ENSMUSG00000027822
AA Change: F533S

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.5983

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (70/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,467,926		probably null	Het
5430419D17Rik	T	C	7: 131,238,182	L611P	probably damaging	Het
Adam18	T	C	8: 24,647,853	T324A	probably benign	Het
AI429214	A	G	8: 36,994,319	Q207R	probably benign	Het
Asic5	C	T	3: 82,008,448		probably benign	Het
Atp13a1	T	C	8: 69,802,144		probably null	Het
Atp6v0a1	T	A	11: 101,055,491	L770*	probably null	Het
B3gnt5	T	A	16: 19,770,010	D326E	probably damaging	Het
Btbd9	T	A	17: 30,299,633	D451V	probably damaging	Het
Cd46	T	C	1: 195,041,992	*366W	probably null	Het
Cenpc1	A	T	5: 86,037,908	V248E	probably damaging	Het
Cep152	A	G	2: 125,594,899	S574P	probably benign	Het
Cep250	A	G	2: 155,964,289		probably benign	Het
Chd2	A	G	7: 73,478,664	S858P	probably damaging	Het
Cxcl1	A	T	5: 90,891,767	K85*	probably null	Het
Daam1	A	C	12: 71,915,784	K90T	unknown	Het
Diexf	A	T	1: 193,114,703	N573K	probably damaging	Het
Dip2c	G	A	13: 9,576,908	A632T	probably damaging	Het
Dmtf1	T	A	5: 9,127,987	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,752,145	V3081A	probably damaging	Het
Dnah9	A	T	11: 66,005,837		probably null	Het
Efemp1	A	G	11: 28,854,538	E22G	probably damaging	Het
Ephb6	A	G	6: 41,614,104	D65G	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Fsip2	A	T	2: 82,977,092	T1252S	probably benign	Het
Gm12500	T	C	3: 108,086,476		probably null	Het
Gm6327	T	C	16: 12,761,113		noncoding transcript	Het
Golga4	T	C	9: 118,537,273	I365T	probably damaging	Het
Gp2	A	T	7: 119,454,543	L65Q	probably damaging	Het
Ice1	C	A	13: 70,602,427	V1847L	probably benign	Het
Ift172	T	C	5: 31,257,918		probably benign	Het
Kbtbd7	A	G	14: 79,427,430	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,025,576	T235A	probably benign	Het
Klk13	T	C	7: 43,721,158		probably null	Het
Lgals8	A	T	13: 12,451,395		probably benign	Het
Lrfn5	G	A	12: 61,843,437	G504D	probably damaging	Het
Map6	G	A	7: 99,336,743	G821D	possibly damaging	Het
Mcpt8	T	C	14: 56,083,800		probably benign	Het
Myh13	T	A	11: 67,332,520	I222N	probably damaging	Het
Myh7b	G	A	2: 155,620,427	C350Y	probably benign	Het
Naa25	T	C	5: 121,438,716		probably benign	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Olfm3	C	A	3: 115,101,986	S172R	probably benign	Het
Olfr1168	A	T	2: 88,184,978	T34S	probably benign	Het
Olfr1231	A	T	2: 89,303,184	I136N	probably damaging	Het
Olfr342	A	G	2: 36,528,008	I199V	probably benign	Het
Olfr70	A	G	4: 43,696,706	S156P	probably damaging	Het
Pacs1	A	T	19: 5,143,829	D557E	probably damaging	Het
Phactr2	T	C	10: 13,247,139	D343G	possibly damaging	Het
Pkd2l2	A	G	18: 34,428,252	T438A	probably damaging	Het
Pld2	T	C	11: 70,557,081	W857R	probably damaging	Het
Pm20d2	T	A	4: 33,174,734		probably benign	Het
Rilpl1	A	G	5: 124,501,871	S156P	probably benign	Het
Rilpl1	A	G	5: 124,501,888	I122T	possibly damaging	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Saxo2	A	G	7: 82,634,870	V260A	probably benign	Het
Skint1	T	G	4: 112,028,215		probably benign	Het
Slc38a4	C	T	15: 97,005,858	V421M	probably benign	Het
Snx14	A	G	9: 88,400,721		probably null	Het
Spag7	A	G	11: 70,669,182		probably benign	Het
Sri	A	T	5: 8,059,381	Q55L	probably damaging	Het
Tm9sf1	T	C	14: 55,642,935	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,883,218	T122A	probably benign	Het
Tmem59l	G	A	8: 70,486,060	P124S	possibly damaging	Het
Trpv6	T	A	6: 41,625,188	T396S	probably benign	Het
Usp24	T	A	4: 106,371,079	Y780*	probably null	Het
Usp24	A	G	4: 106,413,678		probably null	Het
Vmn2r53	A	G	7: 12,601,392	F114L	probably damaging	Het
Zfp626	G	A	7: 27,818,482	R296H	probably damaging	Het

Other mutations in Slc33a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9195:Slc33a1	UTSW	3	63963767	missense	probably damaging	1.00
R9747:Slc33a1	UTSW	3	63954003	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ttgctcCACTTGATACATTGTACCAACA -3'
(R):5'- gccatctgagaccctgtctcTATAAAGC -3'

Sequencing Primer
(F):5'- CCAAAAGGGTTGTTTCCTAGC -3'
(R):5'- TCGTGTGTTACAGCTCTGGA -3'

Posted On

2013-11-08