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

2310081N20Rik, acid ceramidase

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

41793234-41827810 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 41804925 bp (GRCm39)

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: 121,613,249 (GRCm39)	M1K	probably null	Het
Afap1l2	C	A	19: 56,904,238 (GRCm39)	R683L	probably damaging	Het
Ankfy1	C	T	11: 72,602,980 (GRCm39)		probably benign	Het
Aoc1	A	T	6: 48,883,010 (GRCm39)	E295D	probably benign	Het
B4galnt4	T	C	7: 140,650,752 (GRCm39)	L842P	probably damaging	Het
Bhmt	T	C	13: 93,763,855 (GRCm39)	E62G	probably damaging	Het
Btbd10	T	A	7: 112,951,016 (GRCm39)	R25*	probably null	Het
Cdh5	T	A	8: 104,857,600 (GRCm39)	I342N	possibly damaging	Het
Clca3a2	T	A	3: 144,512,088 (GRCm39)	E109D	probably benign	Het
Cntrl	T	C	2: 35,035,112 (GRCm39)	L913S	probably damaging	Het
Col12a1	T	A	9: 79,587,593 (GRCm39)	T1183S	probably benign	Het
Col6a6	A	T	9: 105,655,166 (GRCm39)	Y852N	probably damaging	Het
Cpeb2	T	C	5: 43,438,573 (GRCm39)		probably null	Het
Cyp2c66	T	A	19: 39,151,892 (GRCm39)	N202K	probably damaging	Het
Dchs1	A	G	7: 105,405,711 (GRCm39)	V2391A	possibly damaging	Het
Dgat2	A	G	7: 98,806,300 (GRCm39)	V299A	probably benign	Het
Dnah6	G	A	6: 73,098,797 (GRCm39)	S2034L	possibly damaging	Het
Eps8l2	G	A	7: 140,937,832 (GRCm39)		probably null	Het
Fgg	T	A	3: 82,920,090 (GRCm39)	F290I	probably damaging	Het
Filip1	A	T	9: 79,760,952 (GRCm39)	M194K	probably damaging	Het
Foxl2	T	C	9: 98,838,035 (GRCm39)	F108L	probably damaging	Het
Fut1	T	C	7: 45,268,798 (GRCm39)	F196L	probably damaging	Het
Gm10323	A	C	13: 67,002,888 (GRCm39)	W17G	probably damaging	Het
Gstz1	T	A	12: 87,210,470 (GRCm39)		probably null	Het
Hacd1	T	C	2: 14,049,586 (GRCm39)		probably benign	Het
Hmcn2	T	A	2: 31,299,156 (GRCm39)	L2834Q	possibly damaging	Het
Hs3st3a1	C	T	11: 64,327,148 (GRCm39)	R86W	probably benign	Het
Krtap1-4	G	C	11: 99,474,020 (GRCm39)		probably benign	Het
Lmntd2	A	G	7: 140,793,910 (GRCm39)	V21A	probably benign	Het
Lonp1	T	A	17: 56,925,337 (GRCm39)	D485V	probably damaging	Het
Mia2	A	G	12: 59,236,427 (GRCm39)	T1346A	possibly damaging	Het
Mpp2	T	C	11: 101,976,141 (GRCm39)	T6A	probably benign	Het
Mycbp2	A	T	14: 103,466,866 (GRCm39)	V1299E	probably damaging	Het
Myo1d	C	T	11: 80,573,236 (GRCm39)	G197E	probably damaging	Het
Nfib	T	C	4: 82,416,532 (GRCm39)	I168V	possibly damaging	Het
Or2ak5	T	A	11: 58,611,097 (GRCm39)	Y259F	probably damaging	Het
Or2b7	A	T	13: 21,739,975 (GRCm39)	C72*	probably null	Het
Or2y1e	C	T	11: 49,218,868 (GRCm39)	A210V	probably benign	Het
Or4c121	T	A	2: 89,023,617 (GRCm39)	I254L	probably benign	Het
Or4c29	C	T	2: 88,739,810 (GRCm39)	R309Q	probably benign	Het
Parp3	A	T	9: 106,351,922 (GRCm39)	I150K	probably damaging	Het
Pnp	A	G	14: 51,185,443 (GRCm39)	D49G	probably benign	Het
Prkcq	T	C	2: 11,251,781 (GRCm39)	I206T	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rlf	A	G	4: 121,007,729 (GRCm39)	L417P	probably benign	Het
Scn7a	AT	ATT	2: 66,531,239 (GRCm39)		probably null	Het
Sgce	T	A	6: 4,730,008 (GRCm39)	D72V	probably benign	Het
Sh3d21	A	G	4: 126,056,625 (GRCm39)	S66P	probably benign	Het
Sost	C	G	11: 101,854,865 (GRCm39)	G148A	probably damaging	Het
Sybu	T	C	15: 44,609,854 (GRCm39)	E138G	probably damaging	Het
Tas1r2	A	G	4: 139,396,886 (GRCm39)	T742A	probably damaging	Het
Tet3	A	G	6: 83,380,401 (GRCm39)	V589A	probably damaging	Het
Tnxb	C	A	17: 34,891,605 (GRCm39)	C649*	probably null	Het
Tnxb	A	G	17: 34,922,561 (GRCm39)	Y2458C	probably damaging	Het
Tsku	T	C	7: 98,001,746 (GRCm39)	N195S	probably damaging	Het
Vmn1r215	T	A	13: 23,260,378 (GRCm39)	N139K	probably damaging	Het
Zfp106	T	C	2: 120,357,544 (GRCm39)	H1117R	probably benign	Het
Zfp26	A	G	9: 20,352,756 (GRCm39)		probably benign	Het
Zfp764l1	T	C	7: 126,990,914 (GRCm39)	T358A	possibly damaging	Het
Zfp804b	T	A	5: 7,230,625 (GRCm39)		probably benign	Het
Zfr	T	C	15: 12,153,006 (GRCm39)	S546P	probably benign	Het

Other mutations in Asah1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01824:Asah1	APN	8	41,802,580 (GRCm39)	unclassified	probably benign
IGL02512:Asah1	APN	8	41,813,344 (GRCm39)	intron	probably benign
IGL02523:Asah1	APN	8	41,804,984 (GRCm39)	missense	probably benign
IGL03115:Asah1	APN	8	41,813,336 (GRCm39)	missense	possibly damaging	0.94
IGL03357:Asah1	APN	8	41,799,233 (GRCm39)	splice site	probably benign
PIT4366001:Asah1	UTSW	8	41,796,783 (GRCm39)	missense	possibly damaging	0.94
R0593:Asah1	UTSW	8	41,802,619 (GRCm39)	missense	probably benign	0.02
R1451:Asah1	UTSW	8	41,807,049 (GRCm39)	critical splice donor site	probably null
R1977:Asah1	UTSW	8	41,796,554 (GRCm39)	critical splice donor site	probably null
R2200:Asah1	UTSW	8	41,796,765 (GRCm39)	critical splice donor site	probably null
R4002:Asah1	UTSW	8	41,801,176 (GRCm39)	splice site	probably benign
R4078:Asah1	UTSW	8	41,807,119 (GRCm39)	missense	probably damaging	0.99
R4470:Asah1	UTSW	8	41,796,761 (GRCm39)	splice site	probably null
R4471:Asah1	UTSW	8	41,796,761 (GRCm39)	splice site	probably null
R4968:Asah1	UTSW	8	41,807,067 (GRCm39)	missense
R4970:Asah1	UTSW	8	41,813,314 (GRCm39)	nonsense	probably null
R5643:Asah1	UTSW	8	41,813,332 (GRCm39)	missense	possibly damaging	0.94
R5644:Asah1	UTSW	8	41,813,332 (GRCm39)	missense	possibly damaging	0.94
R6128:Asah1	UTSW	8	41,807,092 (GRCm39)	missense	probably damaging	1.00
R6419:Asah1	UTSW	8	41,796,803 (GRCm39)	missense	probably damaging	1.00
R7059:Asah1	UTSW	8	41,800,106 (GRCm39)	missense	probably damaging	0.96
R7442:Asah1	UTSW	8	41,796,602 (GRCm39)	missense	possibly damaging	0.60
R7587:Asah1	UTSW	8	41,827,578 (GRCm39)	missense	probably benign	0.43
R7663:Asah1	UTSW	8	41,794,664 (GRCm39)	missense	probably damaging	0.98
R7980:Asah1	UTSW	8	41,807,067 (GRCm39)	missense
R8122:Asah1	UTSW	8	41,796,767 (GRCm39)	missense	probably benign	0.01
R8275:Asah1	UTSW	8	41,801,159 (GRCm39)	missense	probably damaging	1.00
R8700:Asah1	UTSW	8	41,813,312 (GRCm39)	missense	probably benign	0.03
R8752:Asah1	UTSW	8	41,813,314 (GRCm39)	missense	possibly damaging	0.47
R8960:Asah1	UTSW	8	41,800,061 (GRCm39)	missense	probably damaging	1.00
R9131:Asah1	UTSW	8	41,807,049 (GRCm39)	critical splice donor site	probably null
R9539:Asah1	UTSW	8	41,827,584 (GRCm39)	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