Mutagenetix > Incidental Mutation

Incidental Mutation 'R1171:Slc33a1'

99380

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

039244-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.640) question?

Stock #

R1171 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63849744-63872154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63861315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 296 (T296S)

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: T296S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029402
Gene: ENSMUSG00000027822
AA Change: T296S

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: T296S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125713
Gene: ENSMUSG00000027822
AA Change: T296S

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: T296S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123986
Gene: ENSMUSG00000027822
AA Change: T296S

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

Coding Region Coverage

1x: 99.6%
3x: 98.6%
10x: 96.2%
20x: 91.6%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	A	T	7: 119,140,075 (GRCm39)	E492V	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Atr	T	C	9: 95,789,376 (GRCm39)	F1511L	probably damaging	Het
Bdkrb2	G	T	12: 105,558,416 (GRCm39)	R219L	probably benign	Het
Bhmt2	A	T	13: 93,798,837 (GRCm39)	M328K	probably benign	Het
Btbd3	A	G	2: 138,125,881 (GRCm39)	D286G	probably benign	Het
Bub1b	T	G	2: 118,437,167 (GRCm39)	L122V	probably benign	Het
Caml	T	C	13: 55,772,820 (GRCm39)	S155P	probably damaging	Het
Cfap43	T	C	19: 47,824,150 (GRCm39)	K74E	probably benign	Het
Chst4	A	G	8: 110,757,255 (GRCm39)	S120P	probably damaging	Het
Col11a1	A	G	3: 113,860,213 (GRCm39)	D213G	unknown	Het
Cripto	C	A	9: 110,772,235 (GRCm39)	V54L	probably benign	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,495,941 (GRCm39)		probably null	Het
Cxcl10	CAC	CACTAAC	5: 92,495,945 (GRCm39)		probably null	Het
Cyp26b1	A	T	6: 84,553,653 (GRCm39)	I167N	possibly damaging	Het
Dchs1	A	G	7: 105,406,921 (GRCm39)	S2195P	probably benign	Het
Ddx25	T	A	9: 35,458,142 (GRCm39)	K326*	probably null	Het
Dip2c	A	T	13: 9,543,162 (GRCm39)	Y36F	possibly damaging	Het
Dock2	T	C	11: 34,586,068 (GRCm39)	D538G	probably damaging	Het
E4f1	C	T	17: 24,670,523 (GRCm39)	D55N	probably damaging	Het
Emp1	G	T	6: 135,358,077 (GRCm39)	W141L	probably damaging	Het
Faim2	T	A	15: 99,398,135 (GRCm39)	H271L	probably benign	Het
Fbxw9	T	C	8: 85,792,707 (GRCm39)	M352T	possibly damaging	Het
Fcrl2	A	T	3: 87,164,167 (GRCm39)	F321I	probably benign	Het
Frzb	C	T	2: 80,268,834 (GRCm39)		probably null	Het
Gal3st1	G	T	11: 3,948,931 (GRCm39)	K379N	probably damaging	Het
Gm5519	G	A	19: 33,800,372 (GRCm39)	C22Y	possibly damaging	Het
Gpn3	T	C	5: 122,516,583 (GRCm39)	F71L	probably benign	Het
H2-M9	A	G	17: 36,952,545 (GRCm39)	V167A	probably benign	Het
Hars1	A	G	18: 36,904,467 (GRCm39)	F182L	possibly damaging	Het
Hid1	T	C	11: 115,243,543 (GRCm39)	T502A	probably benign	Het
Hipk3	G	T	2: 104,302,021 (GRCm39)	T57K	probably benign	Het
Iqsec2	A	G	X: 150,927,727 (GRCm39)	S87G	probably benign	Het
Itpk1	G	A	12: 102,572,378 (GRCm39)	L112F	probably damaging	Het
Klk1b9	T	A	7: 43,443,817 (GRCm39)	D110E	possibly damaging	Het
Lemd3	A	T	10: 120,785,246 (GRCm39)	M535K	possibly damaging	Het
Lipg	A	T	18: 75,078,894 (GRCm39)	S453T	possibly damaging	Het
Lrrc75a	A	T	11: 62,500,069 (GRCm39)	W150R	probably damaging	Het
Lyg1	T	C	1: 37,986,305 (GRCm39)	E143G	probably damaging	Het
Map3k1	A	G	13: 111,892,177 (GRCm39)	V1026A	probably benign	Het
Mgat3	T	A	15: 80,095,838 (GRCm39)	F222I	probably benign	Het
Mindy4	A	T	6: 55,232,601 (GRCm39)	N348I	possibly damaging	Het
Ms4a20	T	C	19: 11,089,741 (GRCm39)	Y48C	probably damaging	Het
Myo1b	A	C	1: 51,817,684 (GRCm39)	F532C	probably damaging	Het
Naif1	T	A	2: 32,342,558 (GRCm39)	N36K	probably damaging	Het
Nkpd1	C	A	7: 19,258,012 (GRCm39)	A597E	possibly damaging	Het
Npr2	A	G	4: 43,647,260 (GRCm39)	D772G	possibly damaging	Het
Or52n4	T	G	7: 104,294,204 (GRCm39)	D123A	probably damaging	Het
Or6a2	T	C	7: 106,600,791 (GRCm39)	N92S	probably benign	Het
Pcolce2	A	T	9: 95,576,793 (GRCm39)	M355L	probably benign	Het
Pdgfra	A	T	5: 75,334,108 (GRCm39)	I394F	probably damaging	Het
Pdzrn3	G	A	6: 101,127,838 (GRCm39)	R943C	probably damaging	Het
Pml	A	G	9: 58,141,821 (GRCm39)	V337A	probably damaging	Het
Pnpla2	T	A	7: 141,038,794 (GRCm39)	M321K	probably benign	Het
Poln	A	T	5: 34,261,284 (GRCm39)	N546K	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prss28	T	A	17: 25,529,029 (GRCm39)	F123L	possibly damaging	Het
Psg18	A	G	7: 18,080,004 (GRCm39)	V399A	probably benign	Het
Rab5a	T	C	17: 53,813,443 (GRCm39)	C212R	probably damaging	Het
Ranbp6	A	T	19: 29,789,679 (GRCm39)	D224E	probably benign	Het
Recql4	T	C	15: 76,588,239 (GRCm39)	I1104M	possibly damaging	Het
Rev1	A	T	1: 38,127,581 (GRCm39)	N226K	possibly damaging	Het
Rhbdl3	T	A	11: 80,244,418 (GRCm39)	V375E	possibly damaging	Het
Senp6	T	A	9: 80,024,007 (GRCm39)	N423K	possibly damaging	Het
Sertad2	C	G	11: 20,598,091 (GRCm39)	L96V	probably benign	Het
Smurf2	G	A	11: 106,743,444 (GRCm39)	P188S	possibly damaging	Het
Spta1	T	A	1: 174,039,180 (GRCm39)	Y1174*	probably null	Het
Stra6l	A	T	4: 45,864,982 (GRCm39)	T103S	probably benign	Het
Swt1	C	T	1: 151,281,272 (GRCm39)	A352T	probably damaging	Het
Thoc2l	T	C	5: 104,668,769 (GRCm39)	V1097A	possibly damaging	Het
Tigd2	T	A	6: 59,188,361 (GRCm39)	N409K	possibly damaging	Het
Tlr6	G	T	5: 65,112,593 (GRCm39)	H105N	probably benign	Het
Tmprss9	A	C	10: 80,715,692 (GRCm39)	T15P	possibly damaging	Het
Tnik	C	T	3: 28,587,089 (GRCm39)	T120M	probably damaging	Het
Tnr	T	A	1: 159,685,780 (GRCm39)	I337N	probably damaging	Het
Top3a	A	G	11: 60,641,419 (GRCm39)	Y422H	probably benign	Het
Trim67	A	G	8: 125,555,820 (GRCm39)	N768S	probably damaging	Het
Ttn	A	G	2: 76,536,310 (GRCm39)	V35016A	probably benign	Het
Utrn	A	C	10: 12,357,052 (GRCm39)	S312R	probably damaging	Het
Vdac2	A	G	14: 21,887,879 (GRCm39)	Y62C	probably damaging	Het
Vwa5b2	A	G	16: 20,423,734 (GRCm39)	T1216A	probably benign	Het
Wfdc16	T	C	2: 164,480,403 (GRCm39)	K31E	possibly damaging	Het
Wtip	C	T	7: 33,824,921 (GRCm39)	C221Y	probably damaging	Het
Xrn1	A	G	9: 95,873,064 (GRCm39)	D640G	possibly damaging	Het
Zdhhc5	T	C	2: 84,522,685 (GRCm39)	R293G	probably benign	Het
Zfp536	T	C	7: 37,269,059 (GRCm39)	D119G	probably damaging	Het
Zfp81	T	C	17: 33,554,254 (GRCm39)	T187A	probably benign	Het
Zfp810	C	T	9: 22,190,122 (GRCm39)	G262D	possibly damaging	Het
Zfp963	A	C	8: 70,195,669 (GRCm39)	I203M	possibly damaging	Het
Zfpm2	T	C	15: 40,965,075 (GRCm39)	M520T	probably damaging	Het
Zswim8	G	A	14: 20,763,181 (GRCm39)	R360Q	possibly damaging	Het
Zwilch	T	A	9: 64,065,999 (GRCm39)	H254L	possibly 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
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

Posted On

2014-01-15