Mutagenetix > Incidental Mutation

Incidental Mutation 'R0103:Asah2'

17871

Institutional Source

Beutler Lab

Gene Symbol

Asah2

Ensembl Gene

ENSMUSG00000024887

Gene Name

N-acylsphingosine amidohydrolase 2

Synonyms

neutral/alkaline ceramidase

MMRRC Submission

038389-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

R0103 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

31984654-32061469 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32018977 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 374 (H374N)

Ref Sequence

ENSEMBL: ENSMUSP00000093830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096119]

AlphaFold

Q9JHE3

Predicted Effect

probably benign
Transcript: ENSMUST00000096119
AA Change: H374N

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: H374N

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
low complexity region	56	67	N/A	INTRINSIC
Pfam:Ceramidase_alk	78	584	1.4e-222	PFAM
Pfam:Ceramidse_alk_C	586	753	8e-50	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 89.4%
3x: 86.4%
10x: 77.8%
20x: 63.0%

Validation Efficiency

91% (89/98)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are defective in the intestinal digestion of dietary ceramide but exhibit a normal life span with no obvious abnormalities or significant alterations in total ceramide levels in major organ tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,273,951 (GRCm38)	R443S	probably damaging	Het
Adgrl3	A	G	5: 81,792,347 (GRCm38)		probably benign	Het
Anapc1	T	C	2: 128,680,452 (GRCm38)		probably benign	Het
Aqr	T	A	2: 114,149,016 (GRCm38)	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,322,721 (GRCm38)		probably benign	Het
Ccdc106	C	A	7: 5,057,545 (GRCm38)	Q35K	probably benign	Het
Ccm2l	G	T	2: 153,067,919 (GRCm38)	E64*	probably null	Het
Cep85l	A	T	10: 53,278,174 (GRCm38)	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,925,125 (GRCm38)	I611F	possibly damaging	Het
Cldn22	C	T	8: 47,824,554 (GRCm38)	T9M	probably benign	Het
Coa7	T	C	4: 108,338,141 (GRCm38)	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,514,272 (GRCm38)	Y2N	probably damaging	Het
Cyp27a1	A	C	1: 74,735,915 (GRCm38)	E301A	probably benign	Het
Dennd4c	A	G	4: 86,812,446 (GRCm38)	Y860C	probably benign	Het
Dhx58	T	C	11: 100,695,270 (GRCm38)	T642A	probably damaging	Het
Dlg4	A	G	11: 70,031,193 (GRCm38)	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,092,172 (GRCm38)	E2511K	probably damaging	Het
Entpd5	C	A	12: 84,396,943 (GRCm38)	E9*	probably null	Het
Fbln2	A	C	6: 91,271,550 (GRCm38)	I1066L	probably benign	Het
Fhl2	C	T	1: 43,153,221 (GRCm38)	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884 (GRCm38)	I17K	probably damaging	Het
Gbp7	T	A	3: 142,546,538 (GRCm38)	N627K	probably benign	Het
Gm16432	A	G	1: 178,116,205 (GRCm38)	N703D	unknown	Het
Gnptab	A	G	10: 88,429,519 (GRCm38)	Y331C	probably damaging	Het
Hibadh	T	A	6: 52,557,877 (GRCm38)	M173L	probably benign	Het
Itga1	T	C	13: 115,016,254 (GRCm38)	I211V	probably benign	Het
Keg1	A	T	19: 12,718,916 (GRCm38)	I155F	possibly damaging	Het
Ltb	A	G	17: 35,195,040 (GRCm38)		probably benign	Het
Manea	A	T	4: 26,329,080 (GRCm38)		probably null	Het
Ms4a4a	T	A	19: 11,392,684 (GRCm38)	M202K	possibly damaging	Het
Myo3a	T	G	2: 22,544,322 (GRCm38)		probably benign	Het
Myo9b	C	T	8: 71,323,849 (GRCm38)		probably benign	Het
Nanos3	C	T	8: 84,176,134 (GRCm38)	R133Q	probably damaging	Het
Ncor1	G	T	11: 62,343,045 (GRCm38)	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,544,242 (GRCm38)	C53*	probably null	Het
Obscn	G	T	11: 59,062,696 (GRCm38)	Y4044*	probably null	Het
Pcsk6	T	C	7: 65,929,097 (GRCm38)		probably benign	Het
Phax	T	A	18: 56,562,713 (GRCm38)	V7D	probably benign	Het
Phxr4	T	C	9: 13,431,791 (GRCm38)		probably benign	Het
Pkhd1	T	A	1: 20,523,359 (GRCm38)	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,597,141 (GRCm38)	C4249R	probably benign	Het
Prpf39	T	C	12: 65,055,283 (GRCm38)	V378A	possibly damaging	Het
Psd2	A	G	18: 36,004,717 (GRCm38)	N455S	probably damaging	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rab4b	A	G	7: 27,174,502 (GRCm38)	I117T	probably benign	Het
Rad9b	A	T	5: 122,331,527 (GRCm38)	V348E	probably damaging	Het
Rcor1	T	C	12: 111,109,778 (GRCm38)		probably benign	Het
Rhoc	A	T	3: 104,791,991 (GRCm38)	E32V	possibly damaging	Het
Rnf40	T	G	7: 127,600,571 (GRCm38)	V925G	probably damaging	Het
Slc25a32	A	T	15: 39,099,897 (GRCm38)	Y176*	probably null	Het
Slc7a1	T	A	5: 148,352,426 (GRCm38)	K4*	probably null	Het
Taar2	G	A	10: 23,941,495 (GRCm38)	R311H	probably benign	Het
Taar4	A	T	10: 23,961,406 (GRCm38)	N305Y	probably damaging	Het
Tcaf1	G	T	6: 42,686,390 (GRCm38)	D185E	probably benign	Het
Tmem138	T	C	19: 10,574,952 (GRCm38)	N62S	possibly damaging	Het
Tnfrsf25	C	T	4: 152,116,948 (GRCm38)	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,236,759 (GRCm38)	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,293,979 (GRCm38)	F597S	probably damaging	Het
Ugt2a3	A	G	5: 87,336,718 (GRCm38)	V149A	possibly damaging	Het
Ush2a	T	G	1: 188,319,070 (GRCm38)	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,589,539 (GRCm38)	C114R	possibly damaging	Het
Zc3h13	T	A	14: 75,330,468 (GRCm38)	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,810,113 (GRCm38)	W274*	probably null	Het

Other mutations in Asah2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Asah2	APN	19	32,008,681 (GRCm38)	splice site	probably benign
IGL02001:Asah2	APN	19	32,043,539 (GRCm38)	nonsense	probably null
IGL02228:Asah2	APN	19	32,016,714 (GRCm38)	missense	probably benign	0.09
IGL02377:Asah2	APN	19	32,009,414 (GRCm38)	missense	probably benign	0.30
IGL03070:Asah2	APN	19	32,006,344 (GRCm38)	missense	probably damaging	1.00
IGL03233:Asah2	APN	19	32,054,631 (GRCm38)	missense	probably benign	0.18
IGL03244:Asah2	APN	19	31,986,942 (GRCm38)	missense	probably damaging	1.00
R0008:Asah2	UTSW	19	32,003,731 (GRCm38)	nonsense	probably null
R0103:Asah2	UTSW	19	32,018,977 (GRCm38)	missense	probably benign	0.01
R0302:Asah2	UTSW	19	32,052,956 (GRCm38)	missense	probably benign	0.01
R0497:Asah2	UTSW	19	32,054,631 (GRCm38)	missense	probably benign	0.18
R0614:Asah2	UTSW	19	32,016,728 (GRCm38)	missense	probably damaging	1.00
R0639:Asah2	UTSW	19	32,008,639 (GRCm38)	missense	probably damaging	0.99
R0715:Asah2	UTSW	19	32,016,776 (GRCm38)	missense	probably damaging	0.97
R1332:Asah2	UTSW	19	32,044,941 (GRCm38)	missense	probably damaging	1.00
R1336:Asah2	UTSW	19	32,044,941 (GRCm38)	missense	probably damaging	1.00
R2045:Asah2	UTSW	19	32,052,956 (GRCm38)	missense	probably benign	0.01
R2062:Asah2	UTSW	19	32,024,874 (GRCm38)	missense	probably damaging	0.99
R4083:Asah2	UTSW	19	31,986,784 (GRCm38)	missense	probably benign	0.01
R4698:Asah2	UTSW	19	32,054,471 (GRCm38)	splice site	probably null
R4731:Asah2	UTSW	19	31,995,358 (GRCm38)	missense	probably benign	0.41
R4732:Asah2	UTSW	19	31,995,358 (GRCm38)	missense	probably benign	0.41
R4733:Asah2	UTSW	19	31,995,358 (GRCm38)	missense	probably benign	0.41
R4773:Asah2	UTSW	19	32,052,858 (GRCm38)	missense	probably damaging	1.00
R4930:Asah2	UTSW	19	32,052,906 (GRCm38)	missense	probably benign	0.35
R5081:Asah2	UTSW	19	32,014,308 (GRCm38)	missense	probably benign	0.07
R5741:Asah2	UTSW	19	32,008,615 (GRCm38)	missense	probably damaging	1.00
R5873:Asah2	UTSW	19	32,003,682 (GRCm38)	critical splice donor site	probably null
R5905:Asah2	UTSW	19	32,016,514 (GRCm38)	missense	probably damaging	1.00
R6027:Asah2	UTSW	19	32,044,951 (GRCm38)	missense	probably benign	0.01
R6028:Asah2	UTSW	19	32,016,514 (GRCm38)	missense	probably damaging	1.00
R6187:Asah2	UTSW	19	32,024,867 (GRCm38)	missense	probably damaging	0.99
R6667:Asah2	UTSW	19	31,995,358 (GRCm38)	missense	probably benign	0.41
R6968:Asah2	UTSW	19	32,012,513 (GRCm38)	missense	probably benign
R7010:Asah2	UTSW	19	32,054,554 (GRCm38)	missense	probably benign	0.00
R7404:Asah2	UTSW	19	32,057,854 (GRCm38)	missense	probably benign	0.13
R7575:Asah2	UTSW	19	32,016,703 (GRCm38)	missense	probably benign	0.11
R7797:Asah2	UTSW	19	32,022,361 (GRCm38)	missense	probably damaging	1.00
R8492:Asah2	UTSW	19	32,006,259 (GRCm38)	missense	probably benign	0.25
R8682:Asah2	UTSW	19	32,052,877 (GRCm38)	missense	probably damaging	1.00
R8766:Asah2	UTSW	19	32,057,880 (GRCm38)	missense	possibly damaging	0.46
R8873:Asah2	UTSW	19	32,044,888 (GRCm38)	critical splice donor site	probably null
R8974:Asah2	UTSW	19	32,052,905 (GRCm38)	missense	probably benign
R9088:Asah2	UTSW	19	32,052,960 (GRCm38)	missense	probably damaging	1.00
R9405:Asah2	UTSW	19	32,008,645 (GRCm38)	missense	possibly damaging	0.82

Posted On

2013-03-25