Mutagenetix > Incidental Mutation

Incidental Mutation 'R7980:Asah1'

651150

Institutional Source

Beutler Lab

Gene Symbol

Asah1

Ensembl Gene

ENSMUSG00000031591

Gene Name

N-acylsphingosine amidohydrolase 1

Synonyms

2310081N20Rik, acid ceramidase

MMRRC Submission

046021-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41793234-41827810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41807067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 119 (M119T)

Ref Sequence

ENSEMBL: ENSMUSP00000117362 (fasta)

Gene Model

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

AlphaFold

Q9WV54

Predicted Effect

probably benign
Transcript: ENSMUST00000034000
AA Change: M95T

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034000
Gene: ENSMUSG00000031591
AA Change: M95T

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

SMART Domains

Protein: ENSMUSP00000117362
Gene: ENSMUSG00000031591
AA Change: M119T

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:NAAA-beta	68	120	6.4e-18	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (87/87)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	A	G	4: 88,786,315 (GRCm39)	L101P	unknown	Het
Actn3	G	A	19: 4,917,950 (GRCm39)	P339L	probably damaging	Het
Adamts12	G	A	15: 11,263,423 (GRCm39)	C595Y	probably damaging	Het
Adrm1b	T	A	3: 92,336,406 (GRCm39)	K99*	probably null	Het
Agl	A	T	3: 116,585,830 (GRCm39)	N99K	probably benign	Het
Aplp1	A	T	7: 30,134,992 (GRCm39)	M592K	probably benign	Het
Arhgef11	C	T	3: 87,605,297 (GRCm39)	R251C	probably benign	Het
Arhgef12	A	T	9: 42,882,595 (GRCm39)	C1416*	probably null	Het
Asxl2	A	T	12: 3,546,630 (GRCm39)	Q471H	probably damaging	Het
Atp6v1c2	A	T	12: 17,371,613 (GRCm39)	D61E	probably damaging	Het
Btbd16	C	A	7: 130,426,097 (GRCm39)	P520Q	probably damaging	Het
Cacnb2	A	G	2: 14,609,326 (GRCm39)	E22G	probably benign	Het
Catspere2	G	T	1: 177,830,610 (GRCm39)		probably null	Het
Cdc25a	T	A	9: 109,708,949 (GRCm39)	D124E	probably damaging	Het
Cdc42se1	A	T	3: 95,139,166 (GRCm39)		probably benign	Het
Cdcp3	T	A	7: 130,836,506 (GRCm39)	V400E	probably damaging	Het
Cfap54	T	C	10: 92,817,922 (GRCm39)	K1265E	possibly damaging	Het
Chaf1b	A	G	16: 93,681,415 (GRCm39)	H11R	probably damaging	Het
Chil4	T	C	3: 106,110,060 (GRCm39)	K345E	probably damaging	Het
Cntnap1	A	G	11: 101,079,719 (GRCm39)	I1283V	probably benign	Het
Dagla	C	T	19: 10,229,406 (GRCm39)	C618Y	possibly damaging	Het
Ddx19b	C	T	8: 111,738,077 (GRCm39)	V224M	possibly damaging	Het
Dohh	C	T	10: 81,223,726 (GRCm39)	R260*	probably null	Het
Dsg3	A	T	18: 20,664,417 (GRCm39)	N472Y	probably benign	Het
Duox1	T	A	2: 122,177,801 (GRCm39)	N1528K	possibly damaging	Het
Eml6	A	G	11: 29,783,205 (GRCm39)	Y559H	probably damaging	Het
Esp4	A	G	17: 40,913,192 (GRCm39)	T20A	possibly damaging	Het
Fbxw21	T	C	9: 108,985,639 (GRCm39)		probably null	Het
Gcc2	T	A	10: 58,114,574 (GRCm39)		probably null	Het
Grin3b	C	T	10: 79,811,559 (GRCm39)	A715V	possibly damaging	Het
Gxylt2	A	T	6: 100,764,170 (GRCm39)		probably null	Het
Hspa4	A	T	11: 53,171,404 (GRCm39)	S267T	probably benign	Het
Hspd1	A	G	1: 55,117,785 (GRCm39)	V491A	possibly damaging	Het
Idua	A	G	5: 108,828,486 (GRCm39)	E280G	probably benign	Het
Ift172	T	A	5: 31,417,988 (GRCm39)	E1267V	probably benign	Het
Itsn1	T	A	16: 91,702,182 (GRCm39)	V1448E	unknown	Het
Kat6a	A	G	8: 23,416,432 (GRCm39)	M647V	possibly damaging	Het
Kcnq4	A	T	4: 120,568,494 (GRCm39)	D407E	probably benign	Het
Kif1b	A	T	4: 149,354,378 (GRCm39)	F221I	probably damaging	Het
Lama2	G	T	10: 27,239,609 (GRCm39)	D315E	probably damaging	Het
Lrrn4	G	A	2: 132,720,096 (GRCm39)	L235F	probably damaging	Het
Map2k6	T	A	11: 110,390,210 (GRCm39)	I248N		Het
Mgat5	A	G	1: 127,407,248 (GRCm39)	Q638R	probably benign	Het
Mia2	A	G	12: 59,155,651 (GRCm39)	K455E	probably damaging	Het
Mrs2	A	G	13: 25,204,221 (GRCm39)	C3R	possibly damaging	Het
Nprl3	A	G	11: 32,187,357 (GRCm39)	I325T	probably damaging	Het
Nr1h3	T	A	2: 91,021,229 (GRCm39)	Q186L	probably benign	Het
Oas1f	A	G	5: 120,989,538 (GRCm39)	E159G	probably benign	Het
Or2g7	A	T	17: 38,378,412 (GRCm39)	M117L	possibly damaging	Het
Or4k15b	T	A	14: 50,272,252 (GRCm39)	S203C	probably damaging	Het
Or52ae7	T	A	7: 103,119,504 (GRCm39)	F86Y	probably damaging	Het
Or52e19b	T	A	7: 103,032,970 (GRCm39)	I80F	probably damaging	Het
Or52s1b	T	A	7: 102,822,242 (GRCm39)	S201C	probably damaging	Het
Or5m12	A	G	2: 85,734,942 (GRCm39)	F152S	probably benign	Het
Or8g4	T	C	9: 39,662,417 (GRCm39)	I245T	probably damaging	Het
Or9a4	T	A	6: 40,549,154 (GRCm39)	I278N	probably benign	Het
Pbxip1	G	C	3: 89,353,648 (GRCm39)	S267T	probably benign	Het
Pcdhga10	A	T	18: 37,881,645 (GRCm39)	I469F	possibly damaging	Het
Pkd1l1	A	G	11: 8,804,375 (GRCm39)	S1739P	probably damaging	Het
Plcd4	A	C	1: 74,604,464 (GRCm39)	N788T	probably benign	Het
Pms2	T	A	5: 143,867,909 (GRCm39)	W838R	probably damaging	Het
Pnpla6	T	A	8: 3,586,562 (GRCm39)	V926D	probably damaging	Het
Pros1	A	T	16: 62,748,516 (GRCm39)	H663L	possibly damaging	Het
Prss55	T	C	14: 64,316,138 (GRCm39)		probably null	Het
Pum2	T	C	12: 8,763,904 (GRCm39)	Y283H	probably damaging	Het
Rad21	A	G	15: 51,828,422 (GRCm39)	S549P	probably benign	Het
Sap130	T	A	18: 31,781,182 (GRCm39)		probably null	Het
Sertad4	C	T	1: 192,529,189 (GRCm39)	S209N	probably benign	Het
Sez6	A	G	11: 77,844,668 (GRCm39)	T164A	probably benign	Het
Slc22a28	C	T	19: 8,078,837 (GRCm39)	R284Q	probably damaging	Het
Slco4c1	T	C	1: 96,764,650 (GRCm39)	K474R	probably benign	Het
Stx5a	T	C	19: 8,719,802 (GRCm39)	S56P	probably damaging	Het
Svopl	T	C	6: 37,991,744 (GRCm39)	T379A	probably damaging	Het
Sypl2	A	G	3: 108,125,008 (GRCm39)	F118L	probably damaging	Het
Tfrc	G	A	16: 32,435,967 (GRCm39)	V215M	probably benign	Het
Thnsl2	T	C	6: 71,115,652 (GRCm39)	N185S	probably damaging	Het
Tmem104	T	C	11: 115,134,580 (GRCm39)	I372T	probably damaging	Het
Tnfaip6	G	A	2: 51,941,070 (GRCm39)	G204S	probably damaging	Het
Trim12a	C	T	7: 103,953,335 (GRCm39)	E259K	probably benign	Het
Tubgcp6	G	A	15: 88,986,232 (GRCm39)	R1436C	probably benign	Het
Tyrp1	C	T	4: 80,758,864 (GRCm39)	L246F	probably damaging	Het
Ubr4	G	T	4: 139,145,717 (GRCm39)	V216F		Het
Unc5a	A	G	13: 55,147,319 (GRCm39)	I409V	possibly damaging	Het
Vmn1r15	T	C	6: 57,235,399 (GRCm39)	L89P	probably damaging	Het
Vmn1r32	A	T	6: 66,530,305 (GRCm39)	L157*	probably null	Het
Zcchc24	A	G	14: 25,720,185 (GRCm39)	Y160H	probably damaging	Het
Zfp184	A	T	13: 22,144,376 (GRCm39)	H694L	probably damaging	Het
Zfp345	A	C	2: 150,314,723 (GRCm39)	Y271*	probably null	Het
Zranb3	T	C	1: 128,030,671 (GRCm39)		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
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
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
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'- TGTATTTTCCCATTGCTGTGAGAAC -3'
(R):5'- TCCTTCATCTGAATGATTGAGAAGC -3'

Sequencing Primer
(F):5'- CCCATTGCTGTGAGAACTAGGG -3'
(R):5'- CATCTGAATGATTGAGAAGCAATGC -3'

Posted On

2020-09-15