Mutagenetix > Incidental Mutation

Incidental Mutation 'R3429:Asah1'

268007

Institutional Source

Beutler Lab

Gene Symbol

Asah1

Ensembl Gene

ENSMUSG00000031591

Gene Name

N-acylsphingosine amidohydrolase 1

Synonyms

acid ceramidase, 2310081N20Rik

MMRRC Submission

040647-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3429 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41340197-41374773 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 41351888 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117362 (fasta)

Gene Model

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

AlphaFold

Q9WV54

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

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

98% (65/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,636,290	M1K	probably null	Het
Afap1l2	C	A	19: 56,915,806	R683L	probably damaging	Het
Ankfy1	C	T	11: 72,712,154		probably benign	Het
Aoc1	A	T	6: 48,906,076	E295D	probably benign	Het
B4galnt4	T	C	7: 141,070,839	L842P	probably damaging	Het
Bhmt	T	C	13: 93,627,347	E62G	probably damaging	Het
Btbd10	T	A	7: 113,351,809	R25*	probably null	Het
Cdh5	T	A	8: 104,130,968	I342N	possibly damaging	Het
Clca3a2	T	A	3: 144,806,327	E109D	probably benign	Het
Cntrl	T	C	2: 35,145,100	L913S	probably damaging	Het
Col12a1	T	A	9: 79,680,311	T1183S	probably benign	Het
Col6a6	A	T	9: 105,777,967	Y852N	probably damaging	Het
Cpeb2	T	C	5: 43,281,230		probably null	Het
Cyp2c66	T	A	19: 39,163,448	N202K	probably damaging	Het
Dchs1	A	G	7: 105,756,504	V2391A	possibly damaging	Het
Dgat2	A	G	7: 99,157,093	V299A	probably benign	Het
Dnah6	G	A	6: 73,121,814	S2034L	possibly damaging	Het
E430018J23Rik	T	C	7: 127,391,742	T358A	possibly damaging	Het
Eps8l2	G	A	7: 141,357,919		probably null	Het
Fgg	T	A	3: 83,012,783	F290I	probably damaging	Het
Filip1	A	T	9: 79,853,670	M194K	probably damaging	Het
Foxl2	T	C	9: 98,955,982	F108L	probably damaging	Het
Fut1	T	C	7: 45,619,374	F196L	probably damaging	Het
Gm10323	A	C	13: 66,854,824	W17G	probably damaging	Het
Gstz1	T	A	12: 87,163,696		probably null	Het
Hacd1	T	C	2: 14,044,775		probably benign	Het
Hmcn2	T	A	2: 31,409,144	L2834Q	possibly damaging	Het
Hs3st3a1	C	T	11: 64,436,322	R86W	probably benign	Het
Krtap1-4	G	C	11: 99,583,194		probably benign	Het
Lmntd2	A	G	7: 141,213,997	V21A	probably benign	Het
Lonp1	T	A	17: 56,618,337	D485V	probably damaging	Het
Mia2	A	G	12: 59,189,641	T1346A	possibly damaging	Het
Mpp2	T	C	11: 102,085,315	T6A	probably benign	Het
Mycbp2	A	T	14: 103,229,430	V1299E	probably damaging	Het
Myo1d	C	T	11: 80,682,410	G197E	probably damaging	Het
Nfib	T	C	4: 82,498,295	I168V	possibly damaging	Het
Olfr1209	C	T	2: 88,909,466	R309Q	probably benign	Het
Olfr1226	T	A	2: 89,193,273	I254L	probably benign	Het
Olfr1391	C	T	11: 49,328,041	A210V	probably benign	Het
Olfr1535	A	T	13: 21,555,805	C72*	probably null	Het
Olfr318	T	A	11: 58,720,271	Y259F	probably damaging	Het
Parp3	A	T	9: 106,474,723	I150K	probably damaging	Het
Pnp	A	G	14: 50,947,986	D49G	probably benign	Het
Prkcq	T	C	2: 11,246,970	I206T	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rlf	A	G	4: 121,150,532	L417P	probably benign	Het
Scn7a	AT	ATT	2: 66,700,895		probably null	Het
Sgce	T	A	6: 4,730,008	D72V	probably benign	Het
Sh3d21	A	G	4: 126,162,832	S66P	probably benign	Het
Sost	C	G	11: 101,964,039	G148A	probably damaging	Het
Sybu	T	C	15: 44,746,458	E138G	probably damaging	Het
Tas1r2	A	G	4: 139,669,575	T742A	probably damaging	Het
Tet3	A	G	6: 83,403,419	V589A	probably damaging	Het
Tnxb	C	A	17: 34,672,631	C649*	probably null	Het
Tnxb	A	G	17: 34,703,587	Y2458C	probably damaging	Het
Tsku	T	C	7: 98,352,539	N195S	probably damaging	Het
Vmn1r215	T	A	13: 23,076,208	N139K	probably damaging	Het
Zfp106	T	C	2: 120,527,063	H1117R	probably benign	Het
Zfp26	A	G	9: 20,441,460		probably benign	Het
Zfp804b	T	A	5: 7,180,625		probably benign	Het
Zfr	T	C	15: 12,152,920	S546P	probably benign	Het

Other mutations in Asah1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01824:Asah1	APN	8	41349543	unclassified	probably benign
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
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
R9131:Asah1	UTSW	8	41354012	critical splice donor site	probably null
R9539:Asah1	UTSW	8	41374547	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCCTTGTTCTTAGCGTGG -3'
(R):5'- TTTTGTAGGAGTCCAACACCAAAC -3'

Sequencing Primer
(F):5'- TCTTAGCGTGGTGAAGGCAGAC -3'
(R):5'- GGAGTCCAACACCAAACATTATATAG -3'

Posted On

2015-02-18