Mutagenetix > Incidental Mutation

Incidental Mutation 'R7360:Slc33a1'

571247

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

045446-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.687) question?

Stock #

R7360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63849744-63872154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63855075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 395 (V395A)

Ref Sequence

ENSEMBL: ENSMUSP00000029402 (fasta)

Gene Model

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

AlphaFold

Q99J27

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029402
AA Change: V395A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029402
Gene: ENSMUSG00000027822
AA Change: V395A

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: V395A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125713
Gene: ENSMUSG00000027822
AA Change: V395A

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: V395A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123986
Gene: ENSMUSG00000027822
AA Change: V395A

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (54/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	G	C	4: 106,606,548 (GRCm39)	P534A	possibly damaging	Het
Arhgef26	T	A	3: 62,355,626 (GRCm39)	Y733N	possibly damaging	Het
Aste1	G	T	9: 105,274,835 (GRCm39)	M358I	probably damaging	Het
B4galnt3	C	T	6: 120,209,940 (GRCm39)	W61*	probably null	Het
Brd9	C	T	13: 74,092,942 (GRCm39)	R311W	probably benign	Het
Cdkn1c	T	C	7: 143,014,431 (GRCm39)	D5G	possibly damaging	Het
Cerk	A	G	15: 86,043,327 (GRCm39)	F158S	probably damaging	Het
Clec2m	C	T	6: 129,303,710 (GRCm39)	R85H	probably benign	Het
Cnot4	T	A	6: 35,041,941 (GRCm39)	E235V	probably damaging	Het
Crmp1	T	C	5: 37,433,624 (GRCm39)	V275A	possibly damaging	Het
Dcbld2	C	A	16: 58,285,683 (GRCm39)		probably null	Het
Dip2a	T	C	10: 76,114,394 (GRCm39)	R1029G	probably damaging	Het
Dnaaf1	A	G	8: 120,304,090 (GRCm39)	T43A	probably benign	Het
Eaf2	C	T	16: 36,648,514 (GRCm39)	S2N	probably benign	Het
Eif2b4	T	C	5: 31,348,719 (GRCm39)	D164G	probably benign	Het
Fpgs	T	C	2: 32,584,005 (GRCm39)	Y45C	possibly damaging	Het
Gm1527	C	T	3: 28,968,691 (GRCm39)	Q248*	probably null	Het
Gm29666	C	T	15: 84,798,469 (GRCm39)	A31T	unknown	Het
Gmip	C	A	8: 70,263,892 (GRCm39)	A112D	probably damaging	Het
Hibadh	C	T	6: 52,617,197 (GRCm39)	G13S	probably benign	Het
Hmcn1	A	T	1: 150,494,597 (GRCm39)	V4164D	probably damaging	Het
Kif15	A	T	9: 122,820,202 (GRCm39)	N580I	probably benign	Het
Krt25	G	A	11: 99,208,232 (GRCm39)	T332M	probably benign	Het
Krt88	G	T	15: 101,345,643 (GRCm39)		probably benign	Het
Lrrk2	T	C	15: 91,615,858 (GRCm39)		probably null	Het
Mapkapk5	A	G	5: 121,675,169 (GRCm39)		probably benign	Het
Myh7b	C	T	2: 155,474,460 (GRCm39)	S1725L	probably benign	Het
Nckap1l	T	G	15: 103,384,526 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,893,277 (GRCm39)		probably null	Het
Obscn	A	C	11: 58,973,185 (GRCm39)	V1996G	probably damaging	Het
Or14j8	T	A	17: 38,263,900 (GRCm39)	N5I	probably damaging	Het
Or4a66	A	T	2: 88,531,331 (GRCm39)	V114E	probably damaging	Het
Parp8	T	C	13: 117,032,307 (GRCm39)	T289A	probably benign	Het
Pcsk5	T	C	19: 17,492,577 (GRCm39)	K932R	probably benign	Het
Pde4dip	T	C	3: 97,625,632 (GRCm39)	D1322G	probably benign	Het
Peli3	A	T	19: 4,985,103 (GRCm39)	M136K	possibly damaging	Het
Pgm5	A	G	19: 24,812,181 (GRCm39)	I117T	probably damaging	Het
Ppm1g	T	C	5: 31,360,621 (GRCm39)	D478G	probably damaging	Het
Ppp2r5c	A	G	12: 110,541,272 (GRCm39)	T474A	probably benign	Het
Ptger3	T	C	3: 157,272,764 (GRCm39)	V37A	probably benign	Het
Ptprz1	T	C	6: 23,000,906 (GRCm39)	S999P	probably damaging	Het
Pygl	C	T	12: 70,274,306 (GRCm39)	G18S	probably benign	Het
Rest	T	C	5: 77,428,976 (GRCm39)	V465A	probably benign	Het
Sart1	T	C	19: 5,433,231 (GRCm39)	D422G	probably damaging	Het
Sgk1	A	G	10: 21,869,972 (GRCm39)	M4V	probably benign	Het
Slc38a11	A	T	2: 65,184,139 (GRCm39)	S171T	possibly damaging	Het
Slc4a2	T	A	5: 24,634,713 (GRCm39)	S76T	probably benign	Het
Spata31h1	T	C	10: 82,132,341 (GRCm39)	D223G	unknown	Het
Ssc4d	T	A	5: 135,994,965 (GRCm39)	S184C	probably damaging	Het
Tspoap1	A	G	11: 87,669,347 (GRCm39)	Y1540C	probably benign	Het
Ube3a	T	A	7: 58,926,383 (GRCm39)	L408Q	probably damaging	Het
Usp43	C	A	11: 67,767,155 (GRCm39)		probably null	Het
Zan	A	C	5: 137,385,232 (GRCm39)	V5067G	unknown	Het
Zfp180	C	A	7: 23,804,915 (GRCm39)	L445I	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
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
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'- CTAACTCATAGGGAAATCTTCAACTTC -3'
(R):5'- TGAACATCGTCAGTGTCATTTGG -3'

Sequencing Primer
(F):5'- TTCTTCAGGGACTAGAAGACAGCTC -3'
(R):5'- TAGACCAGGTTGGCCTCAGAG -3'

Posted On

2019-09-13