Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01824:Asah1'

154635

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Asah1

Ensembl Gene

ENSMUSG00000031591

Gene Name

N-acylsphingosine amidohydrolase 1

Synonyms

acid ceramidase, 2310081N20Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01824

Quality Score

Status

Chromosome

Chromosomal Location

41340197-41374773 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 41349543 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034000] [ENSMUST00000110417] [ENSMUST00000143057]

Predicted Effect

probably benign
Transcript: ENSMUST00000034000

SMART Domains

Protein: ENSMUSP00000034000
Gene: ENSMUSG00000031591

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:NAAA-beta	44	138	4.2e-35	PFAM
Pfam:CBAH	142	389	1e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110417

SMART Domains

Protein: ENSMUSP00000106047
Gene: ENSMUSG00000031591

Domain	Start	End	E-Value	Type
Pfam:NAAA-beta	24	118	8.8e-39	PFAM
Pfam:CBAH	122	216	7.9e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126561

Predicted Effect

probably benign
Transcript: ENSMUST00000143057

SMART Domains

Protein: ENSMUSP00000117362
Gene: ENSMUSG00000031591

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:NAAA-beta	68	120	6.4e-18	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes acid ceramidase, an enzyme that plays a central role in ceramide metabolism. The encoded protein undergoes proteolytic processing to generate a heterodimeric enzyme comprised of alpha and beta subunits that catalyzes the hydrolysis of sphingolipid ceramide into sphingosine and free fatty acid. The homozygous disruption of this gene leads to embryonic lethality in mice whereas the heterozygous animals exhibit a progressive lipid storage disease phenotype. [provided by RefSeq, Oct 2015]
PHENOTYPE: Nullizygous mutation of this gene causes embryonic lethality. Homozygotes for the P361R mutation die prematurely with growth defects, low acid ceramidase activity, high ceramide levels, histiocyte infiltrates into various organs, Farber bodies, short femur growth plates and altered ovary morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17c	G	A	7: 84,151,289	R186C	probably benign	Het
Ankar	A	G	1: 72,651,727	V1196A	probably benign	Het
Chrm1	T	C	19: 8,679,130	W400R	probably damaging	Het
Cyp27a1	G	T	1: 74,735,881	E290*	probably null	Het
Dnah7a	T	C	1: 53,504,270	D2247G	probably benign	Het
Gins4	G	A	8: 23,234,768	Q57*	probably null	Het
Gli1	T	C	10: 127,336,527	D219G	probably benign	Het
Greb1	A	T	12: 16,711,716	C554*	probably null	Het
Gtf2ird2	T	C	5: 134,197,282		probably benign	Het
Ifna15	T	C	4: 88,557,783	R155G	probably benign	Het
Lck	T	A	4: 129,558,146	M14L	probably benign	Het
Megf6	A	G	4: 154,252,234	D322G	probably damaging	Het
Olfr1272	T	A	2: 90,281,919	I219F	probably damaging	Het
Pcdh18	A	T	3: 49,754,774	D697E	probably damaging	Het
Pnp	C	T	14: 50,951,413	T221I	probably damaging	Het
Ppl	A	G	16: 5,087,889	I1514T	probably damaging	Het
Scnn1g	A	G	7: 121,766,293	M523V	probably benign	Het
Sema4c	A	G	1: 36,553,029	Y246H	possibly damaging	Het
Slco1a5	T	A	6: 142,253,037	I301F	probably benign	Het
Srebf1	A	G	11: 60,204,131	S446P	probably benign	Het
Sys1	T	G	2: 164,463,305	L56R	probably damaging	Het
Trpc7	G	T	13: 56,789,722	Y585*	probably null	Het
Vmn2r110	T	A	17: 20,574,667	Y580F	probably benign	Het
Zmym6	G	T	4: 127,108,706	V485F	probably damaging	Het

Other mutations in Asah1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02512:Asah1	APN	8	41360307	intron	probably benign
IGL02523:Asah1	APN	8	41351947	missense	probably benign
IGL03115:Asah1	APN	8	41360299	missense	possibly damaging	0.94
IGL03357:Asah1	APN	8	41346196	splice site	probably benign
PIT4366001:Asah1	UTSW	8	41343746	missense	possibly damaging	0.94
R0593:Asah1	UTSW	8	41349582	missense	probably benign	0.02
R1451:Asah1	UTSW	8	41354012	critical splice donor site	probably null
R1977:Asah1	UTSW	8	41343517	critical splice donor site	probably null
R2200:Asah1	UTSW	8	41343728	critical splice donor site	probably null
R3429:Asah1	UTSW	8	41351888	unclassified	probably benign
R4002:Asah1	UTSW	8	41348139	splice site	probably benign
R4078:Asah1	UTSW	8	41354082	missense	probably damaging	0.99
R4470:Asah1	UTSW	8	41343724	splice site	probably null
R4471:Asah1	UTSW	8	41343724	splice site	probably null
R4968:Asah1	UTSW	8	41354030	missense
R4970:Asah1	UTSW	8	41360277	nonsense	probably null
R5643:Asah1	UTSW	8	41360295	missense	possibly damaging	0.94
R5644:Asah1	UTSW	8	41360295	missense	possibly damaging	0.94
R6128:Asah1	UTSW	8	41354055	missense	probably damaging	1.00
R6419:Asah1	UTSW	8	41343766	missense	probably damaging	1.00
R7059:Asah1	UTSW	8	41347069	missense	probably damaging	0.96
R7442:Asah1	UTSW	8	41343565	missense	possibly damaging	0.60
R7587:Asah1	UTSW	8	41374541	missense	probably benign	0.43
R7663:Asah1	UTSW	8	41341627	missense	probably damaging	0.98
R7980:Asah1	UTSW	8	41354030	missense
R8122:Asah1	UTSW	8	41343730	missense	probably benign	0.01
R8275:Asah1	UTSW	8	41348122	missense	probably damaging	1.00
R8700:Asah1	UTSW	8	41360275	missense	probably benign	0.03
R8752:Asah1	UTSW	8	41360277	missense	possibly damaging	0.47
R8960:Asah1	UTSW	8	41347024	missense	probably damaging	1.00

Posted On

2014-02-04