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

2310081N20Rik, acid ceramidase

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

41793234-41827810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41813332 bp (GRCm39)

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: 14,308,678 (GRCm39)	D805E	probably damaging	Het
Adrb2	A	T	18: 62,311,753 (GRCm39)	N357K	probably benign	Het
Ahnak	A	G	19: 8,988,021 (GRCm39)	K3102E	possibly damaging	Het
Alkal2	T	A	12: 30,934,889 (GRCm39)	L36Q	probably damaging	Het
Alkbh8	G	T	9: 3,385,384 (GRCm39)	V559F	probably damaging	Het
Apba2	A	G	7: 64,365,259 (GRCm39)	T346A	probably benign	Het
Arhgap10	C	T	8: 78,137,684 (GRCm39)	M302I	probably benign	Het
Bag2	A	G	1: 33,786,034 (GRCm39)	V96A	probably damaging	Het
Bicd1	C	T	6: 149,421,901 (GRCm39)	A874V	probably damaging	Het
C4b	T	C	17: 34,961,391 (GRCm39)	I189M	probably benign	Het
Cacna1a	A	G	8: 85,189,406 (GRCm39)	Y119C	probably damaging	Het
Calcr	A	G	6: 3,708,538 (GRCm39)	I216T	probably damaging	Het
Ccar1	T	C	10: 62,607,757 (GRCm39)	N302S	probably benign	Het
Ccdc93	A	G	1: 121,411,065 (GRCm39)	H446R	probably benign	Het
Cct6b	A	T	11: 82,613,281 (GRCm39)	L420Q	probably benign	Het
Cemip	T	C	7: 83,638,392 (GRCm39)	T273A	probably benign	Het
Cep128	A	T	12: 91,315,625 (GRCm39)	I87K	probably damaging	Het
Cfap221	A	G	1: 119,860,532 (GRCm39)	L698P	probably damaging	Het
Cfap43	T	A	19: 47,784,114 (GRCm39)	N473I	possibly damaging	Het
Clec12b	T	A	6: 129,356,923 (GRCm39)	I172L	probably benign	Het
Cntnap5b	A	C	1: 100,311,326 (GRCm39)	E606D	probably benign	Het
Cyp2c67	A	C	19: 39,604,138 (GRCm39)	V406G	possibly damaging	Het
Dhx57	T	C	17: 80,546,302 (GRCm39)	I1308V	possibly damaging	Het
Dnah7a	A	T	1: 53,580,138 (GRCm39)	M1599K	probably benign	Het
Dnajc21	A	T	15: 10,462,001 (GRCm39)	D133E	probably benign	Het
Dpp8	G	A	9: 64,953,017 (GRCm39)	W231*	probably null	Het
Dvl3	T	A	16: 20,345,026 (GRCm39)	I353N	probably damaging	Het
Fgd6	T	A	10: 93,969,912 (GRCm39)	I1187N	possibly damaging	Het
Fn1	A	T	1: 71,666,409 (GRCm39)	Y875N	probably damaging	Het
Gaa	T	A	11: 119,171,361 (GRCm39)	M671K	possibly damaging	Het
Gm11939	T	C	11: 99,450,138 (GRCm39)	D52G	probably damaging	Het
Gm14403	A	T	2: 177,199,054 (GRCm39)	H50L	possibly damaging	Het
Gpam	A	T	19: 55,077,331 (GRCm39)	D153E	probably benign	Het
Gzma	T	C	13: 113,234,794 (GRCm39)	T66A	probably damaging	Het
Hnmt	A	T	2: 23,904,251 (GRCm39)	W137R	probably damaging	Het
Hsd17b7	A	T	1: 169,783,517 (GRCm39)	V297D	probably damaging	Het
Ighv1-85	A	T	12: 115,963,680 (GRCm39)	S107T	possibly damaging	Het
Kif12	T	A	4: 63,084,130 (GRCm39)	Q624L	possibly damaging	Het
Kif1b	T	C	4: 149,322,939 (GRCm39)	D660G	probably damaging	Het
Klf13	T	C	7: 63,541,308 (GRCm39)		probably benign	Het
Klhl41	A	G	2: 69,500,815 (GRCm39)	Y92C	probably damaging	Het
Klrc2	A	T	6: 129,633,420 (GRCm39)	C186S	probably damaging	Het
Lao1	T	A	4: 118,822,433 (GRCm39)		probably null	Het
Lmo7	A	G	14: 102,166,772 (GRCm39)		probably benign	Het
Lyst	A	T	13: 13,812,081 (GRCm39)	Q831L	possibly damaging	Het
Lzts1	A	G	8: 69,591,729 (GRCm39)	S140P	possibly damaging	Het
Man2b1	T	A	8: 85,820,839 (GRCm39)	I679N	possibly damaging	Het
Mgat5b	T	A	11: 116,864,226 (GRCm39)	V464E	probably damaging	Het
Mrgprb5	G	A	7: 47,817,955 (GRCm39)	T260I	probably benign	Het
Mybpc2	T	C	7: 44,156,477 (GRCm39)	T825A	probably benign	Het
Mycbp2	T	A	14: 103,524,770 (GRCm39)	K597I	probably damaging	Het
Naalad2	G	T	9: 18,246,227 (GRCm39)	N568K	possibly damaging	Het
Neurl1a	A	G	19: 47,167,916 (GRCm39)	N4S	probably benign	Het
Nfx1	T	C	4: 40,984,973 (GRCm39)	W366R	probably null	Het
Nipbl	C	T	15: 8,388,391 (GRCm39)	V410I	probably benign	Het
Nlrp9a	A	T	7: 26,257,993 (GRCm39)	H537L	possibly damaging	Het
Nxpe4	A	G	9: 48,304,050 (GRCm39)	N46D	probably benign	Het
Or14j10	T	A	17: 37,935,323 (GRCm39)	I68F	probably benign	Het
Or4c101	T	A	2: 88,389,849 (GRCm39)	M1K	probably null	Het
Or4f60	A	T	2: 111,902,013 (GRCm39)	M305K	probably benign	Het
Or5ae1	C	A	7: 84,565,327 (GRCm39)	F113L	probably benign	Het
Or5b95	A	T	19: 12,658,336 (GRCm39)	Y288F	probably damaging	Het
Or5p58	A	T	7: 107,694,011 (GRCm39)	Y255*	probably null	Het
Or5p60	A	G	7: 107,723,858 (GRCm39)	F204S	probably benign	Het
Or6c2	A	T	10: 129,362,972 (GRCm39)	N292I	probably damaging	Het
Or6c76b	T	A	10: 129,693,296 (GRCm39)	V303E	probably benign	Het
Or8u10	T	C	2: 85,915,503 (GRCm39)	N206S	probably damaging	Het
P2ry12	A	T	3: 59,125,516 (GRCm39)	M53K	possibly damaging	Het
Pcca	G	A	14: 123,124,481 (GRCm39)	C684Y	probably damaging	Het
Pdzd7	A	G	19: 45,028,619 (GRCm39)	S175P	probably benign	Het
Pgbd1	A	G	13: 21,607,322 (GRCm39)	C291R	probably damaging	Het
Plekhg5	T	C	4: 152,188,797 (GRCm39)	V200A	probably benign	Het
Pola2	A	G	19: 6,011,198 (GRCm39)	V42A	probably benign	Het
Pramel16	C	T	4: 143,675,374 (GRCm39)	G484D	probably benign	Het
Prkcd	C	A	14: 30,329,370 (GRCm39)	K23N	probably benign	Het
Ptdss1	T	C	13: 67,120,604 (GRCm39)	F267L	probably damaging	Het
Rad54l	C	T	4: 115,956,144 (GRCm39)	S561N	probably benign	Het
Rai14	T	A	15: 10,593,137 (GRCm39)	H169L	probably benign	Het
Rfc3	C	T	5: 151,573,444 (GRCm39)	V40I	probably benign	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Rtl1	C	T	12: 109,558,013 (GRCm39)	M1275I	probably benign	Het
Ryr2	C	A	13: 11,610,468 (GRCm39)	E4119D	probably damaging	Het
Senp7	T	C	16: 56,004,512 (GRCm39)		silent	Het
Sfmbt2	A	T	2: 10,573,184 (GRCm39)	I571F	probably damaging	Het
Sit1	T	A	4: 43,483,562 (GRCm39)	T8S	probably benign	Het
Slc22a30	T	C	19: 8,381,980 (GRCm39)	H97R	possibly damaging	Het
Slco1a5	A	C	6: 142,183,320 (GRCm39)		probably null	Het
Smc6	T	A	12: 11,339,995 (GRCm39)	N434K	probably benign	Het
Snap91	G	T	9: 86,672,206 (GRCm39)		probably null	Het
Srsf10	T	C	4: 135,591,131 (GRCm39)	S194P	possibly damaging	Het
St14	T	C	9: 31,017,806 (GRCm39)	M205V	probably benign	Het
Syndig1	A	T	2: 149,741,428 (GRCm39)	I5F	possibly damaging	Het
Tbrg1	T	C	9: 37,560,709 (GRCm39)	D389G	probably benign	Het
Tcaf2	G	A	6: 42,619,707 (GRCm39)	R107C	possibly damaging	Het
Tpmt	T	A	13: 47,182,435 (GRCm39)	D163V	probably benign	Het
Trim15	T	C	17: 37,177,713 (GRCm39)	E94G	probably damaging	Het
Trit1	T	C	4: 122,942,965 (GRCm39)	I279T	probably damaging	Het
Trpm8	T	A	1: 88,287,461 (GRCm39)	F815I	possibly damaging	Het
Ttn	T	A	2: 76,768,867 (GRCm39)	T2856S	probably damaging	Het
Ugdh	A	T	5: 65,574,204 (GRCm39)	D446E	probably benign	Het
Unc5c	C	T	3: 141,383,886 (GRCm39)	A88V	probably damaging	Het
Vmn1r43	T	C	6: 89,847,354 (GRCm39)	N44S	probably damaging	Het
Vmn2r120	T	A	17: 57,831,977 (GRCm39)	M271L	probably benign	Het
Wdr74	T	A	19: 8,715,240 (GRCm39)	V133E	probably damaging	Het
Zfp607b	T	C	7: 27,403,194 (GRCm39)	L550P	probably damaging	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
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
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'- GGAAACCAAGCCTCTCTCC -3'
(R):5'- GTGAAATGGTTTTAAAAGATGGTTCT -3'

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

Posted On

2016-11-08