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: 0.433) question?

Stock #

R0103 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

31962046-32080540 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31996377 bp (GRCm39)

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: 9,223,951 (GRCm39)	R443S	probably damaging	Het
Adgrl3	A	G	5: 81,940,194 (GRCm39)		probably benign	Het
Anapc1	T	C	2: 128,522,372 (GRCm39)		probably benign	Het
Aqr	T	A	2: 113,979,497 (GRCm39)	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,206,922 (GRCm39)		probably benign	Het
Catspere2	A	G	1: 177,943,771 (GRCm39)	N703D	unknown	Het
Ccdc106	C	A	7: 5,060,544 (GRCm39)	Q35K	probably benign	Het
Ccm2l	G	T	2: 152,909,839 (GRCm39)	E64*	probably null	Het
Cep85l	A	T	10: 53,154,270 (GRCm39)	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,815,951 (GRCm39)	I611F	possibly damaging	Het
Cldn22	C	T	8: 48,277,589 (GRCm39)	T9M	probably benign	Het
Coa7	T	C	4: 108,195,338 (GRCm39)	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,821,701 (GRCm39)	Y2N	probably damaging	Het
Cyp27a1	A	C	1: 74,775,074 (GRCm39)	E301A	probably benign	Het
Dennd4c	A	G	4: 86,730,683 (GRCm39)	Y860C	probably benign	Het
Dhx58	T	C	11: 100,586,096 (GRCm39)	T642A	probably damaging	Het
Dlg4	A	G	11: 69,922,019 (GRCm39)	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,069,155 (GRCm39)	E2511K	probably damaging	Het
Entpd5	C	A	12: 84,443,717 (GRCm39)	E9*	probably null	Het
Fbln2	A	C	6: 91,248,532 (GRCm39)	I1066L	probably benign	Het
Fhl2	C	T	1: 43,192,381 (GRCm39)	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884 (GRCm39)	I17K	probably damaging	Het
Gbp7	T	A	3: 142,252,299 (GRCm39)	N627K	probably benign	Het
Gnptab	A	G	10: 88,265,381 (GRCm39)	Y331C	probably damaging	Het
Hibadh	T	A	6: 52,534,862 (GRCm39)	M173L	probably benign	Het
Itga1	T	C	13: 115,152,790 (GRCm39)	I211V	probably benign	Het
Keg1	A	T	19: 12,696,280 (GRCm39)	I155F	possibly damaging	Het
Ltb	A	G	17: 35,414,016 (GRCm39)		probably benign	Het
Manea	A	T	4: 26,329,080 (GRCm39)		probably null	Het
Ms4a4a	T	A	19: 11,370,048 (GRCm39)	M202K	possibly damaging	Het
Myo3a	T	G	2: 22,436,360 (GRCm39)		probably benign	Het
Myo9b	C	T	8: 71,776,493 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ncor1	G	T	11: 62,233,871 (GRCm39)	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,471,980 (GRCm39)	C53*	probably null	Het
Obscn	G	T	11: 58,953,522 (GRCm39)	Y4044*	probably null	Het
Pcsk6	T	C	7: 65,578,845 (GRCm39)		probably benign	Het
Phax	T	A	18: 56,695,785 (GRCm39)	V7D	probably benign	Het
Phxr4	T	C	9: 13,343,087 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,593,583 (GRCm39)	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,460,537 (GRCm39)	C4249R	probably benign	Het
Prpf39	T	C	12: 65,102,057 (GRCm39)	V378A	possibly damaging	Het
Psd2	A	G	18: 36,137,770 (GRCm39)	N455S	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab4b	A	G	7: 26,873,927 (GRCm39)	I117T	probably benign	Het
Rad9b	A	T	5: 122,469,590 (GRCm39)	V348E	probably damaging	Het
Rcor1	T	C	12: 111,076,212 (GRCm39)		probably benign	Het
Rhoc	A	T	3: 104,699,307 (GRCm39)	E32V	possibly damaging	Het
Rnf40	T	G	7: 127,199,743 (GRCm39)	V925G	probably damaging	Het
Slc25a32	A	T	15: 38,963,292 (GRCm39)	Y176*	probably null	Het
Slc7a1	T	A	5: 148,289,236 (GRCm39)	K4*	probably null	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Taar4	A	T	10: 23,837,304 (GRCm39)	N305Y	probably damaging	Het
Tcaf1	G	T	6: 42,663,324 (GRCm39)	D185E	probably benign	Het
Tmem138	T	C	19: 10,552,316 (GRCm39)	N62S	possibly damaging	Het
Tnfrsf25	C	T	4: 152,201,405 (GRCm39)	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,067,240 (GRCm39)	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,184,805 (GRCm39)	F597S	probably damaging	Het
Ugt2a3	A	G	5: 87,484,577 (GRCm39)	V149A	possibly damaging	Het
Ush2a	T	G	1: 188,051,267 (GRCm39)	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,417,108 (GRCm39)	C114R	possibly damaging	Het
Zc3h13	T	A	14: 75,567,908 (GRCm39)	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,808,375 (GRCm39)	W274*	probably null	Het

Other mutations in Asah2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Asah2	APN	19	31,986,081 (GRCm39)	splice site	probably benign
IGL02001:Asah2	APN	19	32,020,939 (GRCm39)	nonsense	probably null
IGL02228:Asah2	APN	19	31,994,114 (GRCm39)	missense	probably benign	0.09
IGL02377:Asah2	APN	19	31,986,814 (GRCm39)	missense	probably benign	0.30
IGL03070:Asah2	APN	19	31,983,744 (GRCm39)	missense	probably damaging	1.00
IGL03233:Asah2	APN	19	32,032,031 (GRCm39)	missense	probably benign	0.18
IGL03244:Asah2	APN	19	31,964,342 (GRCm39)	missense	probably damaging	1.00
R0008:Asah2	UTSW	19	31,981,131 (GRCm39)	nonsense	probably null
R0103:Asah2	UTSW	19	31,996,377 (GRCm39)	missense	probably benign	0.01
R0302:Asah2	UTSW	19	32,030,356 (GRCm39)	missense	probably benign	0.01
R0497:Asah2	UTSW	19	32,032,031 (GRCm39)	missense	probably benign	0.18
R0614:Asah2	UTSW	19	31,994,128 (GRCm39)	missense	probably damaging	1.00
R0639:Asah2	UTSW	19	31,986,039 (GRCm39)	missense	probably damaging	0.99
R0715:Asah2	UTSW	19	31,994,176 (GRCm39)	missense	probably damaging	0.97
R1332:Asah2	UTSW	19	32,022,341 (GRCm39)	missense	probably damaging	1.00
R1336:Asah2	UTSW	19	32,022,341 (GRCm39)	missense	probably damaging	1.00
R2045:Asah2	UTSW	19	32,030,356 (GRCm39)	missense	probably benign	0.01
R2062:Asah2	UTSW	19	32,002,274 (GRCm39)	missense	probably damaging	0.99
R4083:Asah2	UTSW	19	31,964,184 (GRCm39)	missense	probably benign	0.01
R4698:Asah2	UTSW	19	32,031,871 (GRCm39)	splice site	probably null
R4731:Asah2	UTSW	19	31,972,758 (GRCm39)	missense	probably benign	0.41
R4732:Asah2	UTSW	19	31,972,758 (GRCm39)	missense	probably benign	0.41
R4733:Asah2	UTSW	19	31,972,758 (GRCm39)	missense	probably benign	0.41
R4773:Asah2	UTSW	19	32,030,258 (GRCm39)	missense	probably damaging	1.00
R4930:Asah2	UTSW	19	32,030,306 (GRCm39)	missense	probably benign	0.35
R5081:Asah2	UTSW	19	31,991,708 (GRCm39)	missense	probably benign	0.07
R5741:Asah2	UTSW	19	31,986,015 (GRCm39)	missense	probably damaging	1.00
R5873:Asah2	UTSW	19	31,981,082 (GRCm39)	critical splice donor site	probably null
R5905:Asah2	UTSW	19	31,993,914 (GRCm39)	missense	probably damaging	1.00
R6027:Asah2	UTSW	19	32,022,351 (GRCm39)	missense	probably benign	0.01
R6028:Asah2	UTSW	19	31,993,914 (GRCm39)	missense	probably damaging	1.00
R6187:Asah2	UTSW	19	32,002,267 (GRCm39)	missense	probably damaging	0.99
R6667:Asah2	UTSW	19	31,972,758 (GRCm39)	missense	probably benign	0.41
R6968:Asah2	UTSW	19	31,989,913 (GRCm39)	missense	probably benign
R7010:Asah2	UTSW	19	32,031,954 (GRCm39)	missense	probably benign	0.00
R7404:Asah2	UTSW	19	32,035,254 (GRCm39)	missense	probably benign	0.13
R7575:Asah2	UTSW	19	31,994,103 (GRCm39)	missense	probably benign	0.11
R7797:Asah2	UTSW	19	31,999,761 (GRCm39)	missense	probably damaging	1.00
R8492:Asah2	UTSW	19	31,983,659 (GRCm39)	missense	probably benign	0.25
R8682:Asah2	UTSW	19	32,030,277 (GRCm39)	missense	probably damaging	1.00
R8766:Asah2	UTSW	19	32,035,280 (GRCm39)	missense	possibly damaging	0.46
R8873:Asah2	UTSW	19	32,022,288 (GRCm39)	critical splice donor site	probably null
R8974:Asah2	UTSW	19	32,030,305 (GRCm39)	missense	probably benign
R9088:Asah2	UTSW	19	32,030,360 (GRCm39)	missense	probably damaging	1.00
R9405:Asah2	UTSW	19	31,986,045 (GRCm39)	missense	possibly damaging	0.82

Posted On

2013-03-25