Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01729:Acer3'

105398

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acer3

Ensembl Gene

ENSMUSG00000030760

Gene Name

alkaline ceramidase 3

Synonyms

1110057L18Rik, 5430429L08Rik, Phca

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL01729

Quality Score

Status

Chromosome

Chromosomal Location

97863015-97970415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97866072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 217 (V217A)

Ref Sequence

ENSEMBL: ENSMUSP00000112884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033020] [ENSMUST00000120520] [ENSMUST00000151258]

AlphaFold

Q9D099

Predicted Effect

probably benign
Transcript: ENSMUST00000033020
AA Change: V259A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000033020
Gene: ENSMUSG00000030760
AA Change: V259A

Domain	Start	End	E-Value	Type
Pfam:Ceramidase	9	264	4.9e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120520
AA Change: V217A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112884
Gene: ENSMUSG00000030760
AA Change: V217A

Domain	Start	End	E-Value	Type
Pfam:Ceramidase	1	219	1.9e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151258

SMART Domains

Protein: ENSMUSP00000116127
Gene: ENSMUSG00000030760

Domain	Start	End	E-Value	Type
Pfam:Ceramidase	8	172	5.5e-63	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	A	G	15: 83,112,526 (GRCm39)	F86L	probably damaging	Het
Adcy10	T	C	1: 165,340,737 (GRCm39)		probably null	Het
Adcy8	C	T	15: 64,678,511 (GRCm39)	V481I	probably damaging	Het
Ano3	C	T	2: 110,611,739 (GRCm39)		probably null	Het
Arhgap23	C	T	11: 97,344,787 (GRCm39)	T583I	probably damaging	Het
Atp2a1	A	G	7: 126,057,106 (GRCm39)	L173P	probably damaging	Het
Clgn	T	C	8: 84,124,279 (GRCm39)	W74R	probably damaging	Het
Clstn3	T	C	6: 124,426,753 (GRCm39)	S523G	probably benign	Het
Dnah10	A	C	5: 124,864,529 (GRCm39)	K2245Q	probably benign	Het
Dsg1b	G	T	18: 20,538,295 (GRCm39)	V634L	possibly damaging	Het
Dzip3	A	T	16: 48,748,726 (GRCm39)	V864E	possibly damaging	Het
Ear2	A	T	14: 44,340,701 (GRCm39)	R120*	probably null	Het
Fam171b	T	C	2: 83,685,881 (GRCm39)		probably benign	Het
Fam186b	G	A	15: 99,178,132 (GRCm39)	S398L	probably benign	Het
Gabrp	T	C	11: 33,502,689 (GRCm39)	K392E	probably damaging	Het
Gm10355	G	A	3: 101,213,999 (GRCm39)		noncoding transcript	Het
Gm3424	T	C	14: 17,337,188 (GRCm39)	Y90C	probably damaging	Het
Gm8165	A	G	14: 43,910,186 (GRCm39)	V212A	unknown	Het
Grm7	G	A	6: 111,223,145 (GRCm39)	R395Q	probably benign	Het
Il1r1	T	A	1: 40,333,986 (GRCm39)	N185K	probably damaging	Het
Jam3	A	G	9: 27,016,821 (GRCm39)	F80L	probably damaging	Het
Map1s	T	C	8: 71,365,712 (GRCm39)	Y206H	probably damaging	Het
Mroh7	A	G	4: 106,561,402 (GRCm39)	Y614H	possibly damaging	Het
Ntmt2	T	A	1: 163,552,572 (GRCm39)	D18V	probably damaging	Het
Pate2	T	C	9: 35,581,888 (GRCm39)	Y61H	probably damaging	Het
Prox1	T	A	1: 189,893,372 (GRCm39)	T358S	probably benign	Het
Prpf6	T	A	2: 181,296,710 (GRCm39)	D876E	probably damaging	Het
Rpf1	G	A	3: 146,212,904 (GRCm39)	R311C	probably damaging	Het
Rpusd2	T	A	2: 118,865,837 (GRCm39)	V178D	probably damaging	Het
Stx2	A	G	5: 129,068,042 (GRCm39)	F222L	probably benign	Het
Themis	T	A	10: 28,637,587 (GRCm39)	Y230*	probably null	Het
Tmem132e	T	C	11: 82,325,942 (GRCm39)	L314P	possibly damaging	Het
Tmtc3	T	C	10: 100,283,017 (GRCm39)	E846G	probably benign	Het
Trem1	T	C	17: 48,551,603 (GRCm39)	V88A	possibly damaging	Het
Trim21	G	A	7: 102,213,100 (GRCm39)	A66V	probably damaging	Het
Trip4	A	C	9: 65,782,174 (GRCm39)	V186G	probably benign	Het
Vps9d1	T	C	8: 123,973,739 (GRCm39)	E348G	probably damaging	Het
Xrn2	T	C	2: 146,878,717 (GRCm39)		probably null	Het
Zfp36	A	G	7: 28,077,888 (GRCm39)	S7P	probably damaging	Het

Other mutations in Acer3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01763:Acer3	APN	7	97,915,339 (GRCm39)	splice site	probably benign
IGL02550:Acer3	APN	7	97,873,185 (GRCm39)	missense	probably benign	0.00
IGL02694:Acer3	APN	7	97,866,084 (GRCm39)	missense	probably benign	0.11
R0278:Acer3	UTSW	7	97,910,804 (GRCm39)	missense	probably damaging	1.00
R0942:Acer3	UTSW	7	97,906,949 (GRCm39)	missense	probably damaging	1.00
R4777:Acer3	UTSW	7	97,910,804 (GRCm39)	missense	probably damaging	1.00
R4887:Acer3	UTSW	7	97,906,908 (GRCm39)	missense	possibly damaging	0.91
R5243:Acer3	UTSW	7	97,867,277 (GRCm39)	missense	possibly damaging	0.94
R6338:Acer3	UTSW	7	97,906,922 (GRCm39)	missense	probably damaging	0.98
R6534:Acer3	UTSW	7	97,875,655 (GRCm39)	missense	probably benign	0.02
R8845:Acer3	UTSW	7	97,910,832 (GRCm39)	missense	probably damaging	1.00
R9367:Acer3	UTSW	7	97,908,621 (GRCm39)	missense	probably damaging	0.98
X0017:Acer3	UTSW	7	97,873,191 (GRCm39)	missense	probably benign	0.12

Posted On

2014-01-21