Mutagenetix > Incidental Mutation

Incidental Mutation 'R5643:Asah1'

440864

Institutional Source

Beutler Lab

Gene Symbol

Asah1

Ensembl Gene

ENSMUSG00000031591

Gene Name

N-acylsphingosine amidohydrolase 1

Synonyms

acid ceramidase, 2310081N20Rik

MMRRC Submission

043291-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5643 (G1)

Quality Score

225

Status

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: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (110/117)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 9,010,657	K3102E	possibly damaging	Het
Akap13	T	C	7: 75,702,154		probably null	Het
Akp3	A	T	1: 87,127,763	T511S	unknown	Het
Alkal2	T	A	12: 30,884,890	L36Q	probably damaging	Het
Arhgef17	A	T	7: 100,880,011	V523E	probably damaging	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
Calcr	A	G	6: 3,708,538	I216T	probably damaging	Het
Cdk5rap2	T	A	4: 70,266,733	D1160V	probably damaging	Het
Cep128	A	T	12: 91,348,851	I87K	probably damaging	Het
Cep170b	C	G	12: 112,740,841	H1256Q	probably benign	Het
Chd2	A	T	7: 73,484,484	V705E	probably damaging	Het
Clec12b	T	A	6: 129,379,960	I172L	probably benign	Het
Cobl	A	T	11: 12,306,948		probably benign	Het
Col5a2	T	A	1: 45,390,042	D972V	probably damaging	Het
Csrp1	A	T	1: 135,751,059	N174I	probably damaging	Het
Dnah7a	T	A	1: 53,405,707	H3946L	probably benign	Het
Dnajc21	A	T	15: 10,461,915	D133E	probably benign	Het
Dvl3	T	A	16: 20,526,276	I353N	probably damaging	Het
Elavl3	A	T	9: 22,018,733	S292T	probably benign	Het
Ephb2	T	C	4: 136,771,612	N52S	probably damaging	Het
Gaa	T	A	11: 119,280,535	M671K	possibly damaging	Het
Gabrg3	T	C	7: 56,773,284	D222G	possibly damaging	Het
Gk5	C	T	9: 96,140,656	Q182*	probably null	Het
Gm14403	A	T	2: 177,507,261	H50L	possibly damaging	Het
Gzma	T	C	13: 113,098,260	T66A	probably damaging	Het
Hint2	T	C	4: 43,656,445		probably benign	Het
Hnmt	A	T	2: 24,014,239	W137R	probably damaging	Het
Hoga1	T	C	19: 42,059,963	V90A	probably benign	Het
Idua	A	T	5: 108,680,224		probably benign	Het
Kif1a	A	C	1: 93,055,767	S669R	probably damaging	Het
Klhdc7b	A	T	15: 89,387,659	M915L	possibly damaging	Het
Klhl41	A	G	2: 69,670,471	Y92C	probably damaging	Het
Klrc2	A	T	6: 129,656,457	C186S	probably damaging	Het
Lmo7	A	G	14: 101,929,336		probably benign	Het
Lrriq1	T	C	10: 103,215,440	M484V	probably benign	Het
Lzts1	A	G	8: 69,139,077	S140P	possibly damaging	Het
Mgat5b	T	A	11: 116,973,400	V464E	probably damaging	Het
Mms19	A	T	19: 41,955,866	D298E	possibly damaging	Het
Muc5ac	T	C	7: 141,793,715		probably null	Het
Mycbp2	T	A	14: 103,287,334	K597I	probably damaging	Het
Myo18a	C	A	11: 77,854,687	D1619E	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
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
Olfr648	T	C	7: 104,179,884	I175V	probably benign	Het
Olfr850	A	T	9: 19,477,557	M231K	probably benign	Het
Otog	A	T	7: 46,287,447	T1527S	probably damaging	Het
P2ry12	A	T	3: 59,218,095	M53K	possibly damaging	Het
Pask	A	G	1: 93,337,343		probably null	Het
Pcca	G	A	14: 122,887,069	C684Y	probably damaging	Het
Pcdhb10	A	G	18: 37,413,166	T432A	possibly damaging	Het
Peak1	T	C	9: 56,258,755	N630D	probably damaging	Het
Plbd2	A	T	5: 120,493,166		probably null	Het
Plekhg5	T	C	4: 152,104,340	V200A	probably benign	Het
Pola2	A	G	19: 5,961,170	V42A	probably benign	Het
Ppfibp2	T	A	7: 107,737,890	W572R	probably damaging	Het
Ppp6r1	C	T	7: 4,633,772	E679K	probably benign	Het
Pramef6	A	T	4: 143,895,767	H339Q	probably damaging	Het
Prdx3	G	A	19: 60,871,525	A70V	probably damaging	Het
Prkd2	T	C	7: 16,843,792	F57L	probably benign	Het
Prodh2	A	G	7: 30,506,746	T324A	possibly damaging	Het
Ptdss1	T	C	13: 66,972,540	F267L	probably damaging	Het
Rai14	T	A	15: 10,593,051	H169L	probably benign	Het
Rere	A	G	4: 150,617,243	H1360R	probably damaging	Het
Rfc3	C	T	5: 151,649,979	V40I	probably benign	Het
Rims1	T	A	1: 22,538,509	T219S	probably damaging	Het
Rnf169	T	C	7: 99,927,131	R289G	possibly damaging	Het
Senp7	T	C	16: 56,184,149		silent	Het
Sfmbt2	A	T	2: 10,568,373	I571F	probably damaging	Het
Slc11a2	C	A	15: 100,403,187	K328N	probably benign	Het
Slc25a10	A	G	11: 120,496,376		probably benign	Het
Slc38a8	T	C	8: 119,480,749	*433W	probably null	Het
Slco1a5	A	C	6: 142,237,594		probably null	Het
Smc6	T	A	12: 11,289,994	N434K	probably benign	Het
Syndig1	A	T	2: 149,899,508	I5F	possibly damaging	Het
Syt5	T	C	7: 4,543,019	Q124R	probably benign	Het
Taok3	A	C	5: 117,206,720	M171L	probably benign	Het
Tbrg1	T	C	9: 37,649,413	D389G	probably benign	Het
Tcaf2	G	A	6: 42,642,773	R107C	possibly damaging	Het
Tex14	C	A	11: 87,535,626	H1159Q	probably damaging	Het
Tmprss11d	T	A	5: 86,326,529	M190L	probably benign	Het
Ttn	T	A	2: 76,938,523	T2856S	probably damaging	Het
Ubr4	T	A	4: 139,444,687	M2997K	probably damaging	Het
Unc5c	C	T	3: 141,678,125	A88V	probably damaging	Het
Use1	T	C	8: 71,367,754		probably benign	Het
Vmn1r43	T	C	6: 89,870,372	N44S	probably damaging	Het
Vmn1r89	T	A	7: 13,220,219	V294D	possibly damaging	Het
Vmn2r11	A	T	5: 109,047,003	V819E	probably damaging	Het
Vmn2r120	T	A	17: 57,524,977	M271L	probably benign	Het
Vmn2r52	T	C	7: 10,171,132	Y260C	probably damaging	Het
Vmn2r67	T	A	7: 85,149,943	R519*	probably null	Het
Vmn2r69	T	A	7: 85,407,196	D578V	probably damaging	Het
Vmn2r85	T	C	10: 130,426,474	Y132C	probably damaging	Het
Wdr74	T	A	19: 8,737,876	V133E	probably damaging	Het
Zfp318	T	A	17: 46,409,244		probably benign	Het
Zfp810	A	T	9: 22,283,171	S74T	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
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'- ACATAAGGAAACCAAGCCTCTCT -3'
(R):5'- AGTGAAATGGTTTTAAAAGATGGTTC -3'

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

Posted On

2016-11-08