Mutagenetix > Incidental Mutation

Incidental Mutation 'R5644:Asah1'

440968

Institutional Source

Beutler Lab

Gene Symbol

Asah1

Ensembl Gene

ENSMUSG00000031591

Gene Name

N-acylsphingosine amidohydrolase 1

Synonyms

acid ceramidase, 2310081N20Rik

MMRRC Submission

043292-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5644 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41340197-41374773 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41360295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 27 (T27K)

Ref Sequence

ENSEMBL: ENSMUSP00000034000 (fasta)

Gene Model

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

AlphaFold

Q9WV54

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034000
AA Change: T27K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034000
Gene: ENSMUSG00000031591
AA Change: T27K

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

unknown
Transcript: ENSMUST00000110417
AA Change: D28E

SMART Domains

Protein: ENSMUSP00000106047
Gene: ENSMUSG00000031591
AA Change: D28E

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

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

0.1527

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	T	10: 14,432,934	D805E	probably damaging	Het
Adrb2	A	T	18: 62,178,682	N357K	probably benign	Het
Ahnak	A	G	19: 9,010,657	K3102E	possibly damaging	Het
Alkal2	T	A	12: 30,884,890	L36Q	probably damaging	Het
Alkbh8	G	T	9: 3,385,384	V559F	probably damaging	Het
Apba2	A	G	7: 64,715,511	T346A	probably benign	Het
Arhgap10	C	T	8: 77,411,055	M302I	probably benign	Het
Bag2	A	G	1: 33,746,953	V96A	probably damaging	Het
Bicd1	C	T	6: 149,520,403	A874V	probably damaging	Het
C4b	T	C	17: 34,742,417	I189M	probably benign	Het
Cacna1a	A	G	8: 84,462,777	Y119C	probably damaging	Het
Calcr	A	G	6: 3,708,538	I216T	probably damaging	Het
Ccar1	T	C	10: 62,771,978	N302S	probably benign	Het
Ccdc93	A	G	1: 121,483,336	H446R	probably benign	Het
Cct6b	A	T	11: 82,722,455	L420Q	probably benign	Het
Cemip	T	C	7: 83,989,184	T273A	probably benign	Het
Cep128	A	T	12: 91,348,851	I87K	probably damaging	Het
Cfap221	A	G	1: 119,932,802	L698P	probably damaging	Het
Cfap43	T	A	19: 47,795,675	N473I	possibly damaging	Het
Clec12b	T	A	6: 129,379,960	I172L	probably benign	Het
Cntnap5b	A	C	1: 100,383,601	E606D	probably benign	Het
Cyp2c67	A	C	19: 39,615,694	V406G	possibly damaging	Het
Dhx57	T	C	17: 80,238,873	I1308V	possibly damaging	Het
Dnah7a	A	T	1: 53,540,979	M1599K	probably benign	Het
Dnajc21	A	T	15: 10,461,915	D133E	probably benign	Het
Dpp8	G	A	9: 65,045,735	W231*	probably null	Het
Dvl3	T	A	16: 20,526,276	I353N	probably damaging	Het
Fgd6	T	A	10: 94,134,050	I1187N	possibly damaging	Het
Fn1	A	T	1: 71,627,250	Y875N	probably damaging	Het
Gaa	T	A	11: 119,280,535	M671K	possibly damaging	Het
Gm11939	T	C	11: 99,559,312	D52G	probably damaging	Het
Gm14403	A	T	2: 177,507,261	H50L	possibly damaging	Het
Gpam	A	T	19: 55,088,899	D153E	probably benign	Het
Gzma	T	C	13: 113,098,260	T66A	probably damaging	Het
Hnmt	A	T	2: 24,014,239	W137R	probably damaging	Het
Hsd17b7	A	T	1: 169,955,948	V297D	probably damaging	Het
Ighv1-85	A	T	12: 116,000,060	S107T	possibly damaging	Het
Kif12	T	A	4: 63,165,893	Q624L	possibly damaging	Het
Kif1b	T	C	4: 149,238,482	D660G	probably damaging	Het
Klf13	T	C	7: 63,891,560		probably benign	Het
Klhl41	A	G	2: 69,670,471	Y92C	probably damaging	Het
Klrc2	A	T	6: 129,656,457	C186S	probably damaging	Het
Lao1	T	A	4: 118,965,236		probably null	Het
Lmo7	A	G	14: 101,929,336		probably benign	Het
Lyst	A	T	13: 13,637,496	Q831L	possibly damaging	Het
Lzts1	A	G	8: 69,139,077	S140P	possibly damaging	Het
Man2b1	T	A	8: 85,094,210	I679N	possibly damaging	Het
Mgat5b	T	A	11: 116,973,400	V464E	probably damaging	Het
Mrgprb5	G	A	7: 48,168,207	T260I	probably benign	Het
Mybpc2	T	C	7: 44,507,053	T825A	probably benign	Het
Mycbp2	T	A	14: 103,287,334	K597I	probably damaging	Het
Naalad2	G	T	9: 18,334,931	N568K	possibly damaging	Het
Neurl1a	A	G	19: 47,179,477	N4S	probably benign	Het
Nfx1	T	C	4: 40,984,973	W366R	probably null	Het
Nipbl	C	T	15: 8,358,907	V410I	probably benign	Het
Nlrp9a	A	T	7: 26,558,568	H537L	possibly damaging	Het
Nxpe4	A	G	9: 48,392,750	N46D	probably benign	Het
Olfr1037	T	C	2: 86,085,159	N206S	probably damaging	Het
Olfr116	T	A	17: 37,624,432	I68F	probably benign	Het
Olfr1188	T	A	2: 88,559,505	M1K	probably null	Het
Olfr1313	A	T	2: 112,071,668	M305K	probably benign	Het
Olfr1443	A	T	19: 12,680,972	Y288F	probably damaging	Het
Olfr290	C	A	7: 84,916,119	F113L	probably benign	Het
Olfr482	A	T	7: 108,094,804	Y255*	probably null	Het
Olfr484	A	G	7: 108,124,651	F204S	probably benign	Het
Olfr791	A	T	10: 129,527,103	N292I	probably damaging	Het
Olfr813	T	A	10: 129,857,427	V303E	probably benign	Het
P2ry12	A	T	3: 59,218,095	M53K	possibly damaging	Het
Pcca	G	A	14: 122,887,069	C684Y	probably damaging	Het
Pdzd7	A	G	19: 45,040,180	S175P	probably benign	Het
Pgbd1	A	G	13: 21,423,152	C291R	probably damaging	Het
Plekhg5	T	C	4: 152,104,340	V200A	probably benign	Het
Pola2	A	G	19: 5,961,170	V42A	probably benign	Het
Pramef25	C	T	4: 143,948,804	G484D	probably benign	Het
Prkcd	C	A	14: 30,607,413	K23N	probably benign	Het
Ptdss1	T	C	13: 66,972,540	F267L	probably damaging	Het
Rad54l	C	T	4: 116,098,947	S561N	probably benign	Het
Rai14	T	A	15: 10,593,051	H169L	probably benign	Het
Rfc3	C	T	5: 151,649,979	V40I	probably benign	Het
Rpl31	C	T	1: 39,370,027	R41C	probably benign	Het
Rtl1	C	T	12: 109,591,579	M1275I	probably benign	Het
Ryr2	C	A	13: 11,595,582	E4119D	probably damaging	Het
Senp7	T	C	16: 56,184,149		silent	Het
Sfmbt2	A	T	2: 10,568,373	I571F	probably damaging	Het
Sit1	T	A	4: 43,483,562	T8S	probably benign	Het
Slc22a30	T	C	19: 8,404,616	H97R	possibly damaging	Het
Slco1a5	A	C	6: 142,237,594		probably null	Het
Smc6	T	A	12: 11,289,994	N434K	probably benign	Het
Snap91	G	T	9: 86,790,153		probably null	Het
Srsf10	T	C	4: 135,863,820	S194P	possibly damaging	Het
St14	T	C	9: 31,106,510	M205V	probably benign	Het
Syndig1	A	T	2: 149,899,508	I5F	possibly damaging	Het
Tbrg1	T	C	9: 37,649,413	D389G	probably benign	Het
Tcaf2	G	A	6: 42,642,773	R107C	possibly damaging	Het
Tpmt	T	A	13: 47,028,959	D163V	probably benign	Het
Trim15	T	C	17: 36,866,821	E94G	probably damaging	Het
Trit1	T	C	4: 123,049,172	I279T	probably damaging	Het
Trpm8	T	A	1: 88,359,739	F815I	possibly damaging	Het
Ttn	T	A	2: 76,938,523	T2856S	probably damaging	Het
Ugdh	A	T	5: 65,416,861	D446E	probably benign	Het
Unc5c	C	T	3: 141,678,125	A88V	probably damaging	Het
Vmn1r43	T	C	6: 89,870,372	N44S	probably damaging	Het
Vmn2r120	T	A	17: 57,524,977	M271L	probably benign	Het
Wdr74	T	A	19: 8,737,876	V133E	probably damaging	Het
Zfp607b	T	C	7: 27,703,769	L550P	probably damaging	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
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'- GGAAACCAAGCCTCTCTCC -3'
(R):5'- GTGAAATGGTTTTAAAAGATGGTTCT -3'

Sequencing Primer
(F):5'- CTCTCTCCAGATGGAAGACATGG -3'
(R):5'- GACTGCTCTTCCAAAGGTCCTGAG -3'

Posted On

2016-11-08