Mutagenetix > Incidental Mutation

Incidental Mutation 'R0974:Slc33a1'

82995

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

039103-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.687) question?

Stock #

R0974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63849744-63872154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63850725 bp (GRCm39)

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: 99.6%
3x: 98.8%
10x: 96.5%
20x: 91.9%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,997 (GRCm39)		probably null	Het
Adam18	T	C	8: 25,137,869 (GRCm39)	T324A	probably benign	Het
AI429214	A	G	8: 37,461,473 (GRCm39)	Q207R	probably benign	Het
Atp13a1	T	C	8: 70,254,794 (GRCm39)		probably null	Het
Atp6v0a1	T	A	11: 100,946,317 (GRCm39)	L770*	probably null	Het
B3gnt5	T	A	16: 19,588,760 (GRCm39)	D326E	probably damaging	Het
Btbd9	T	A	17: 30,518,607 (GRCm39)	D451V	probably damaging	Het
Cd46	T	C	1: 194,724,300 (GRCm39)	*366W	probably null	Het
Cdcp3	T	C	7: 130,839,911 (GRCm39)	L611P	probably damaging	Het
Cenpc1	A	T	5: 86,185,767 (GRCm39)	V248E	probably damaging	Het
Chd2	A	G	7: 73,128,412 (GRCm39)	S858P	probably damaging	Het
Cxcl1	A	T	5: 91,039,626 (GRCm39)	K85*	probably null	Het
Daam1	A	C	12: 71,962,558 (GRCm39)	K90T	unknown	Het
Dip2c	G	A	13: 9,626,944 (GRCm39)	A632T	probably damaging	Het
Dmtf1	T	A	5: 9,177,987 (GRCm39)	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,579,710 (GRCm39)	V3081A	probably damaging	Het
Dnah9	A	T	11: 65,896,663 (GRCm39)		probably null	Het
Efemp1	A	G	11: 28,804,538 (GRCm39)	E22G	probably damaging	Het
Ephb6	A	G	6: 41,591,038 (GRCm39)	D65G	probably damaging	Het
Fsip2	A	T	2: 82,807,436 (GRCm39)	T1252S	probably benign	Het
Golga4	T	C	9: 118,366,341 (GRCm39)	I365T	probably damaging	Het
Gp2	A	T	7: 119,053,766 (GRCm39)	L65Q	probably damaging	Het
Ice1	C	A	13: 70,750,546 (GRCm39)	V1847L	probably benign	Het
Kbtbd7	A	G	14: 79,664,870 (GRCm39)	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,332,576 (GRCm39)	T235A	probably benign	Het
Klk13	T	C	7: 43,370,582 (GRCm39)		probably null	Het
Lrfn5	G	A	12: 61,890,223 (GRCm39)	G504D	probably damaging	Het
Map6	G	A	7: 98,985,950 (GRCm39)	G821D	possibly damaging	Het
Myh13	T	A	11: 67,223,346 (GRCm39)	I222N	probably damaging	Het
Myh7b	G	A	2: 155,462,347 (GRCm39)	C350Y	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm3	C	A	3: 114,895,635 (GRCm39)	S172R	probably benign	Het
Or13e8	A	G	4: 43,696,706 (GRCm39)	S156P	probably damaging	Het
Or1j14	A	G	2: 36,418,020 (GRCm39)	I199V	probably benign	Het
Or4c1	A	T	2: 89,133,528 (GRCm39)	I136N	probably damaging	Het
Or5d40	A	T	2: 88,015,322 (GRCm39)	T34S	probably benign	Het
Pacs1	A	T	19: 5,193,857 (GRCm39)	D557E	probably damaging	Het
Phactr2	T	C	10: 13,122,883 (GRCm39)	D343G	possibly damaging	Het
Pkd2l2	A	G	18: 34,561,305 (GRCm39)	T438A	probably damaging	Het
Pld2	T	C	11: 70,447,907 (GRCm39)	W857R	probably damaging	Het
Rilpl1	A	G	5: 124,639,951 (GRCm39)	I122T	possibly damaging	Het
Rilpl1	A	G	5: 124,639,934 (GRCm39)	S156P	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Saxo2	A	G	7: 82,284,078 (GRCm39)	V260A	probably benign	Het
Slc38a4	C	T	15: 96,903,739 (GRCm39)	V421M	probably benign	Het
Snx14	A	G	9: 88,282,774 (GRCm39)		probably null	Het
Sri	A	T	5: 8,109,381 (GRCm39)	Q55L	probably damaging	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tm9sf1	T	C	14: 55,880,392 (GRCm39)	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,713,699 (GRCm39)	T122A	probably benign	Het
Tmem59l	G	A	8: 70,938,710 (GRCm39)	P124S	possibly damaging	Het
Trpv6	T	A	6: 41,602,122 (GRCm39)	T396S	probably benign	Het
Usp24	T	A	4: 106,228,276 (GRCm39)	Y780*	probably null	Het
Usp24	A	G	4: 106,270,875 (GRCm39)		probably null	Het
Utp25	A	T	1: 192,797,011 (GRCm39)	N573K	probably damaging	Het
Vmn2r53	A	G	7: 12,335,319 (GRCm39)	F114L	probably damaging	Het
Zfp626	G	A	7: 27,517,907 (GRCm39)	R296H	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
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
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'- ttgctcCACTTGATACATTGTACCAACA -3'
(R):5'- gccatctgagaccctgtctcTATAAAGC -3'

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

Posted On

2013-11-08