Mutagenetix > Incidental Mutation

Incidental Mutation 'R4078:Asah1'

316694

Institutional Source

Beutler Lab

Gene Symbol

Asah1

Ensembl Gene

ENSMUSG00000031591

Gene Name

N-acylsphingosine amidohydrolase 1

Synonyms

2310081N20Rik, acid ceramidase

MMRRC Submission

041623-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41793234-41827810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41807119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 102 (S102P)

Ref Sequence

ENSEMBL: ENSMUSP00000117362 (fasta)

Gene Model

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

AlphaFold

Q9WV54

Predicted Effect

probably damaging
Transcript: ENSMUST00000034000
AA Change: S78P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034000
Gene: ENSMUSG00000031591
AA Change: S78P

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 damaging
Transcript: ENSMUST00000143057
AA Change: S102P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117362
Gene: ENSMUSG00000031591
AA Change: S102P

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

0.2293

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (70/73)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,215,359 (GRCm39)	L367*	probably null	Het
Agfg1	T	A	1: 82,860,008 (GRCm39)	S312T	possibly damaging	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Ambp	T	A	4: 63,068,680 (GRCm39)	K112N	probably damaging	Het
Arl5c	A	T	11: 97,884,327 (GRCm39)	I88N	probably damaging	Het
Atp10b	T	C	11: 43,044,110 (GRCm39)	V112A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cabs1	G	A	5: 88,128,161 (GRCm39)	E271K	probably damaging	Het
Car8	T	C	4: 8,169,731 (GRCm39)	K259R	possibly damaging	Het
Ccdc18	C	T	5: 108,306,394 (GRCm39)	Q270*	probably null	Het
Cdh4	A	G	2: 179,530,966 (GRCm39)	E616G	possibly damaging	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cfap74	A	G	4: 155,540,128 (GRCm39)	D975G	probably damaging	Het
Col27a1	G	T	4: 63,142,669 (GRCm39)	R119L	probably damaging	Het
Col7a1	A	G	9: 108,790,059 (GRCm39)	N918S	unknown	Het
Colec11	T	C	12: 28,645,246 (GRCm39)	N142D	possibly damaging	Het
Cox7a2	G	A	9: 79,665,852 (GRCm39)	Q10*	probably null	Het
Cyp2b23	C	A	7: 26,372,517 (GRCm39)	G366V	probably damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Emsy	G	A	7: 98,239,932 (GRCm39)	P1108S	probably damaging	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
Fam151a	G	A	4: 106,604,954 (GRCm39)	G439S	probably benign	Het
Fat1	C	T	8: 45,442,159 (GRCm39)	P1154S	probably damaging	Het
Fat4	G	A	3: 39,034,169 (GRCm39)	S2607N	probably damaging	Het
Fzd7	T	A	1: 59,522,948 (GRCm39)	M277K	possibly damaging	Het
Fzd9	A	G	5: 135,278,490 (GRCm39)	V465A	probably benign	Het
Gm38706	G	T	6: 130,460,700 (GRCm39)		noncoding transcript	Het
Gm9758	T	A	5: 14,961,536 (GRCm39)		probably null	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Heatr9	C	A	11: 83,403,254 (GRCm39)	K428N	probably benign	Het
Hgs	T	A	11: 120,373,874 (GRCm39)	S723T	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Kcnn3	A	G	3: 89,568,495 (GRCm39)	K591R	possibly damaging	Het
Khdrbs2	T	C	1: 32,558,895 (GRCm39)		probably benign	Het
Lpp	G	A	16: 24,500,611 (GRCm39)	R141H	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mipep	T	A	14: 61,083,926 (GRCm39)	Y606N	probably damaging	Het
Mroh5	C	A	15: 73,657,889 (GRCm39)	C547F	possibly damaging	Het
Nek3	A	T	8: 22,622,153 (GRCm39)	W363R	probably damaging	Het
Nphs1	T	A	7: 30,166,945 (GRCm39)	Y717*	probably null	Het
Obscn	A	G	11: 58,929,189 (GRCm39)	V6145A	probably benign	Het
Optc	T	C	1: 133,826,087 (GRCm39)	H270R	probably damaging	Het
Or1l4	T	A	2: 37,092,024 (GRCm39)	I257N	possibly damaging	Het
Or2l5	T	A	16: 19,333,982 (GRCm39)	M135L	possibly damaging	Het
Or5p80	T	A	7: 108,230,114 (GRCm39)	M305K	probably benign	Het
Or9r7	G	A	10: 129,962,587 (GRCm39)	T113I	probably damaging	Het
Pik3c2g	A	G	6: 139,612,608 (GRCm39)		probably benign	Het
Pms1	A	T	1: 53,306,948 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,142,683 (GRCm39)	I312F	probably benign	Het
Prkg1	T	C	19: 31,562,978 (GRCm39)	Y156C	probably damaging	Het
Prol1	A	G	5: 88,476,075 (GRCm39)	N155S	unknown	Het
Rapgefl1	A	G	11: 98,740,803 (GRCm39)	T552A	probably benign	Het
Slc22a28	T	A	19: 8,078,777 (GRCm39)	H304L	probably benign	Het
Stox1	C	T	10: 62,501,810 (GRCm39)	C250Y	probably benign	Het
Sult2a3	A	G	7: 13,855,662 (GRCm39)	W65R	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Syne2	C	A	12: 76,082,398 (GRCm39)	T4857K	probably damaging	Het
Tcp1	T	C	17: 13,136,970 (GRCm39)	L64S	probably benign	Het
Thap11	G	T	8: 106,582,548 (GRCm39)	E186*	probably null	Het
Tmem67	A	G	4: 12,040,633 (GRCm39)		probably null	Het
Trappc10	T	C	10: 78,046,216 (GRCm39)	Y458C	probably damaging	Het
Ufd1	A	G	16: 18,644,528 (GRCm39)	Y197C	possibly damaging	Het
Ung	G	T	5: 114,268,684 (GRCm39)		probably null	Het
Usp49	A	G	17: 47,985,674 (GRCm39)	T245A	probably damaging	Het
Washc1	A	T	17: 66,424,156 (GRCm39)	E289D	probably benign	Het
Zc3h7a	A	T	16: 10,969,011 (GRCm39)	V450E	probably benign	Het
Zcchc17	T	G	4: 130,223,418 (GRCm39)	I123L	possibly damaging	Het
Zfp955a	A	G	17: 33,460,675 (GRCm39)	Y486H	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
R3429:Asah1	UTSW	8	41,804,925 (GRCm39)	unclassified	probably benign
R4002:Asah1	UTSW	8	41,801,176 (GRCm39)	splice site	probably benign
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'- TCCCATTGCTGTGAGAACTAGG -3'
(R):5'- CTGAATGATTGAGAAGCAATGCTAC -3'

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

Posted On

2015-05-15