Mutagenetix > Incidental Mutation

Incidental Mutation 'R9131:Asah1'

693637

Institutional Source

Beutler Lab

Gene Symbol

Asah1

Ensembl Gene

ENSMUSG00000031591

Gene Name

N-acylsphingosine amidohydrolase 1

Synonyms

acid ceramidase, 2310081N20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41340197-41374773 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 41354012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034000 (fasta)

Gene Model

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

AlphaFold

Q9WV54

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9593

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,332,508	Y148F	possibly damaging	Het
Adamtsl3	A	G	7: 82,595,514	T1393A	probably benign	Het
Adgrf4	G	T	17: 42,667,367	Q362K	probably benign	Het
Akr1d1	A	G	6: 37,554,516	K163R	probably benign	Het
Arhgap42	A	G	9: 9,011,363	L474P	probably damaging	Het
Arhgef18	G	A	8: 3,437,007	R242Q	possibly damaging	Het
Atm	A	T	9: 53,533,744	I34N	probably benign	Het
Brms1l	A	G	12: 55,860,128	E160G	possibly damaging	Het
Camk2a	C	T	18: 60,943,255	H102Y	unknown	Het
Cd300lb	A	G	11: 114,928,308	V165A	probably damaging	Het
Cela1	G	A	15: 100,681,157	R207C	probably benign	Het
Chd7	T	C	4: 8,785,642	S649P		Het
Clic3	A	G	2: 25,458,313	Q130R	probably benign	Het
Clns1a	G	A	7: 97,713,918	G166R	probably damaging	Het
Cngb1	A	T	8: 95,253,265	H1002Q	probably benign	Het
Cnnm1	C	A	19: 43,441,400	A319E	probably benign	Het
Cntnap5b	C	T	1: 100,050,643	T128I	probably benign	Het
Csf3r	G	A	4: 126,030,020	D108N	probably benign	Het
Ctsc	G	A	7: 88,309,808	W432*	probably null	Het
Dapk1	G	A	13: 60,761,394	G1274R	probably damaging	Het
Dennd2c	C	A	3: 103,157,715	P718Q	probably damaging	Het
Dmxl1	C	G	18: 49,939,572	N2744K	probably damaging	Het
Dnah7b	C	T	1: 46,227,020	R2250C	probably damaging	Het
Dnmt3a	A	T	12: 3,866,136	Q107L	probably benign	Het
Eml2	A	G	7: 19,184,826	D67G		Het
Eml5	A	T	12: 98,858,840	V706E	probably damaging	Het
Eps8l1	A	G	7: 4,477,574	D509G		Het
Farsb	T	C	1: 78,483,314	K43E	probably benign	Het
Fbxw20	A	G	9: 109,223,446	F273S	probably damaging	Het
Fig4	A	T	10: 41,265,411	F284Y	possibly damaging	Het
Fsd1l	C	A	4: 53,694,756	N403K	probably damaging	Het
Fsip2	A	T	2: 82,982,826	H3163L	probably benign	Het
Gm38119	C	A	3: 92,738,096	G64*	probably null	Het
Gpr18	A	G	14: 121,911,761	V284A	probably benign	Het
Hacd3	A	G	9: 65,001,004	V170A	probably damaging	Het
Hps3	T	C	3: 20,029,186	E281G	probably damaging	Het
Ick	A	T	9: 78,166,948	S551C	possibly damaging	Het
Ighv12-3	A	C	12: 114,366,926	V10G	probably benign	Het
Lrp1b	G	A	2: 40,699,578	R3862*	probably null	Het
Ltbp4	A	G	7: 27,337,551	L6P	unknown	Het
Ly6h	T	A	15: 75,565,673	T53S	probably damaging	Het
Ly6i	A	G	15: 74,983,157		probably benign	Het
Mat2a	G	A	6: 72,436,244	R168C	probably damaging	Het
Mdn1	T	A	4: 32,762,275	D5066E	possibly damaging	Het
Med23	T	A	10: 24,904,381	F976I		Het
Muc5ac	T	C	7: 141,809,792	I2280T	unknown	Het
Mylk	G	T	16: 34,956,465	C1336F	probably benign	Het
Myo9a	G	C	9: 59,861,489	R918P	probably damaging	Het
Naglu	T	A	11: 101,076,905	D560E	probably damaging	Het
Nrg2	C	T	18: 36,024,343	V430M	probably damaging	Het
Oit3	T	C	10: 59,435,929	N202S	probably benign	Het
Olfr1453	T	A	19: 13,027,996	Y111F	probably benign	Het
Olfr211	A	G	6: 116,493,920	T104A	probably benign	Het
Olfr389	A	T	11: 73,777,324	M1K	probably null	Het
Olfr569	T	C	7: 102,887,979	H58R	probably benign	Het
Olfr766-ps1	C	A	10: 129,063,228	V260F	probably damaging	Het
Otog	T	A	7: 46,303,173	C423*	probably null	Het
Pcolce	T	A	5: 137,605,508	T401S	probably benign	Het
Pcsk2	T	C	2: 143,813,663	M589T	possibly damaging	Het
Pik3r5	T	C	11: 68,492,273	L306P	possibly damaging	Het
Pikfyve	T	A	1: 65,246,080	M826K	probably damaging	Het
Ppp1r9a	A	G	6: 5,134,106	R898G	possibly damaging	Het
Prl7b1	A	G	13: 27,606,985	V39A	probably benign	Het
Pros1	T	A	16: 62,928,034	D623E	probably damaging	Het
Psg16	A	G	7: 17,098,099	D320G	probably benign	Het
Ptpre	T	A	7: 135,679,146	H612Q	probably damaging	Het
Rbm34	A	G	8: 126,953,178	S283P	probably damaging	Het
Rc3h2	A	T	2: 37,414,690	N19K	possibly damaging	Het
Sacm1l	T	A	9: 123,552,762	L143*	probably null	Het
Sept9	T	A	11: 117,290,634	S105T	probably damaging	Het
Shprh	T	C	10: 11,162,845	M448T	possibly damaging	Het
Slc6a20a	A	C	9: 123,636,998	*593E	probably null	Het
Smarcc1	A	G	9: 110,135,642	D89G	possibly damaging	Het
Svep1	T	A	4: 58,087,778	Y1767F	possibly damaging	Het
Tanc2	T	C	11: 105,798,777	V255A	probably benign	Het
Tiam1	A	G	16: 89,860,267	S694P	probably damaging	Het
Tmem130	T	C	5: 144,743,719	T292A		Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	11: 94,214,377		probably benign	Het
Tpcn2	A	G	7: 145,260,925	Y480H	probably damaging	Het
Trf	G	T	9: 103,211,888	A600D	probably damaging	Het
Ttc16	A	T	2: 32,769,220	L346Q	probably damaging	Het
Vars	A	C	17: 35,004,797	K229N	possibly damaging	Het
Vmn1r113	G	T	7: 20,787,417	G45C	probably damaging	Het
Vmn1r32	A	G	6: 66,553,036	V252A	probably benign	Het
Vmn2r93	A	G	17: 18,325,881	T672A	probably damaging	Het
Wdfy4	T	A	14: 33,097,850	T1466S		Het
Zcwpw1	T	C	5: 137,810,920	Y317H	probably damaging	Het
Zfp169	T	C	13: 48,491,081	E190G	unknown	Het
Zfp273	A	T	13: 67,825,566	H271L	probably damaging	Het
Zfp764	C	A	7: 127,406,547	E20*	probably null	Het
Znfx1	A	T	2: 167,050,378	N639K	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
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
R9539:Asah1	UTSW	8	41374547	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAGCTCAAAATTTCATGCTCCTG -3'
(R):5'- CTGAATGATTGAGAAGCAATGCTAC -3'

Sequencing Primer
(F):5'- TCATGCTCCTGATGAAATTTGTG -3'
(R):5'- GATTGAGAAGCAATGCTACTTTAAAG -3'

Posted On

2022-01-20