Mutagenetix > Incidental Mutation

Incidental Mutation 'R6709:Slc33a1'

529040

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

044827-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.640) question?

Stock #

R6709 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63849744-63872154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63852122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 450 (M450I)

Ref Sequence

ENSEMBL: ENSMUSP00000123986 (fasta)

Gene Model

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

AlphaFold

Q99J27

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029402
AA Change: M450I

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029402
Gene: ENSMUSG00000027822
AA Change: M450I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160883
AA Change: M450I

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125713
Gene: ENSMUSG00000027822
AA Change: M450I

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

possibly damaging
Transcript: ENSMUST00000161659
AA Change: M450I

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123986
Gene: ENSMUSG00000027822
AA Change: M450I

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

0.7256

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (58/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	G	5: 137,552,779 (GRCm39)	D36G	possibly damaging	Het
Actn1	T	A	12: 80,240,418 (GRCm39)	D223V	probably damaging	Het
Adgre1	A	T	17: 57,713,917 (GRCm39)	N201Y	probably benign	Het
Agbl4	T	A	4: 111,423,979 (GRCm39)		probably benign	Het
Atg4d	T	C	9: 21,179,944 (GRCm39)	Y272H	probably damaging	Het
Ccdc39	T	C	3: 33,884,242 (GRCm39)	T367A	possibly damaging	Het
Ceacam2	T	C	7: 25,229,262 (GRCm39)	T293A	possibly damaging	Het
Col19a1	C	T	1: 24,321,577 (GRCm39)	G977E	probably damaging	Het
Csnka2ip	A	T	16: 64,298,932 (GRCm39)	H33Q	possibly damaging	Het
Cyp3a44	A	T	5: 145,714,902 (GRCm39)		probably null	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,594,706 (GRCm39)	D3492G	probably damaging	Het
Eepd1	A	T	9: 25,394,164 (GRCm39)	T143S	probably benign	Het
Eml2	A	G	7: 18,940,136 (GRCm39)	*650W	probably null	Het
Etv1	C	T	12: 38,833,796 (GRCm39)	T19I	possibly damaging	Het
Fam133b	T	C	5: 3,619,059 (GRCm39)		probably benign	Het
Fgd4	T	C	16: 16,302,345 (GRCm39)	H70R	probably benign	Het
Galnt11	C	T	5: 25,453,851 (GRCm39)	R26C	probably damaging	Het
Gm136	T	A	4: 34,755,884 (GRCm39)	Y43F	probably damaging	Het
Gm17409	A	T	2: 58,361,088 (GRCm39)		probably null	Het
Gm5591	A	G	7: 38,221,499 (GRCm39)	I190T	probably benign	Het
H1f9	T	A	11: 94,858,772 (GRCm39)	S22R	possibly damaging	Het
Htra1	C	T	7: 130,537,948 (GRCm39)		probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ints8	A	T	4: 11,221,117 (GRCm39)	Y753N	possibly damaging	Het
Itprid2	A	G	2: 79,475,276 (GRCm39)	T412A	probably benign	Het
L3mbtl3	G	A	10: 26,158,695 (GRCm39)	T651I	unknown	Het
Ltb4r2	A	C	14: 55,999,990 (GRCm39)	T204P	possibly damaging	Het
Ltbp3	G	A	19: 5,797,885 (GRCm39)		probably null	Het
Mlxip	A	T	5: 123,585,339 (GRCm39)	I616F	possibly damaging	Het
Mpz	A	T	1: 170,978,301 (GRCm39)		probably benign	Het
Myh11	A	G	16: 14,041,358 (GRCm39)		probably null	Het
Myo7a	A	G	7: 97,703,906 (GRCm39)	L1949P	probably damaging	Het
Olfm2	A	G	9: 20,584,009 (GRCm39)	Y116H	probably damaging	Het
Or2t47	T	C	11: 58,442,862 (GRCm39)	M68V	probably benign	Het
Or6s1	A	T	14: 51,308,286 (GRCm39)	L188H	probably damaging	Het
Pde4d	T	G	13: 110,084,813 (GRCm39)	L470R	probably damaging	Het
Plxna2	T	A	1: 194,472,074 (GRCm39)	N1013K	probably benign	Het
Ptpn13	A	C	5: 103,734,622 (GRCm39)	Q2118P	probably benign	Het
Pwwp2a	C	G	11: 43,595,554 (GRCm39)	L240V	probably damaging	Het
Reep2	T	C	18: 34,979,263 (GRCm39)	L196P	probably benign	Het
Shank1	A	T	7: 44,003,600 (GRCm39)	N1765I	probably benign	Het
Slc25a13	A	G	6: 6,073,440 (GRCm39)	S473P	possibly damaging	Het
Slc45a2	A	G	15: 11,001,216 (GRCm39)	Y105C	possibly damaging	Het
Slc4a11	A	T	2: 130,526,616 (GRCm39)	L812Q	probably damaging	Het
Sox6	T	C	7: 115,301,024 (GRCm39)		probably null	Het
Sv2b	A	T	7: 74,773,887 (GRCm39)	M528K	probably benign	Het
Syngr4	A	G	7: 45,538,122 (GRCm39)	V82A	probably benign	Het
Tmem185b	G	A	1: 119,454,604 (GRCm39)	V122I	probably benign	Het
Trdn	A	G	10: 33,340,587 (GRCm39)	D607G	probably benign	Het
Trim10	T	A	17: 37,183,262 (GRCm39)	I186N	probably damaging	Het
Trp53i11	A	T	2: 93,030,163 (GRCm39)	M157L	probably benign	Het
Ubr3	C	A	2: 69,843,436 (GRCm39)	H1559N	probably damaging	Het
Usp25	A	C	16: 76,880,820 (GRCm39)	E727A	probably benign	Het
Vmn2r42	T	A	7: 8,195,618 (GRCm39)	R509S	probably benign	Het
Vmn2r69	T	C	7: 85,061,069 (GRCm39)	N172D	probably benign	Het
Zfp14	T	C	7: 29,737,557 (GRCm39)	Y476C	probably damaging	Het

Other mutations in Slc33a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R6866:Slc33a1	UTSW	3	63,850,744 (GRCm39)	missense	probably benign	0.02
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'- ACTCGTGGTATGGGAGAATGTC -3'
(R):5'- CACCCCTGTGCTTAATTCTGAATAC -3'

Sequencing Primer
(F):5'- GGAGAATGTCTTCCTTTGCTAAGAAG -3'
(R):5'- TGTGCTTAATTCTGAATACTCTTCC -3'

Posted On

2018-07-24