Mutagenetix > Incidental Mutation

Incidental Mutation 'R9667:Aspa'

727871

Institutional Source

Beutler Lab

Gene Symbol

Aspa

Ensembl Gene

ENSMUSG00000020774

Gene Name

aspartoacylase

Synonyms

Acy-2, aspartoacylase, Acy2, small lethargic, nur7

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R9667 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73195813-73217677 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 73199625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 217 (C217*)

Ref Sequence

ENSEMBL: ENSMUSP00000021119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021119] [ENSMUST00000155630] [ENSMUST00000184572]

AlphaFold

Q8R3P0

Predicted Effect

probably null
Transcript: ENSMUST00000021119
AA Change: C217*

SMART Domains

Protein: ENSMUSP00000021119
Gene: ENSMUSG00000020774
AA Change: C217*

Domain	Start	End	E-Value	Type
Pfam:AstE_AspA	9	300	8e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155630

SMART Domains

Protein: ENSMUSP00000139131
Gene: ENSMUSG00000020774

Domain	Start	End	E-Value	Type
Pfam:AstE_AspA	9	196	3e-50	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000184572
AA Change: C217*

SMART Domains

Protein: ENSMUSP00000139318
Gene: ENSMUSG00000020774
AA Change: C217*

Domain	Start	End	E-Value	Type
Pfam:AstE_AspA	9	300	4.5e-71	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes an enzyme that deacteylates N-acetyl-L-aspartic acid (NAA) in the brain to yield acetate and L-aspartate. In humans, alterations in neuronal NAA concentration are associated with many neurodegenerative diseases (decrease associated with epilepsy, multiple sclerosis, myotrophic lateral sclerosis, and Alzheimer's disease; increase associated with Canavan disease). In mouse, mutations in this gene, which cause accumulation of NAA, result in demyelination and spongy degeneration in the CNS and serve as a pathophysiological model for Canavan disease. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous null mutants have spongy degeneration of the brain, enlarged heads, and decreased life spans and display metal retardation and impaired coordination. Additionally, mice homozygous for an ENU-induced mutation also exhibit hearing impairment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,890,645 (GRCm39)	Q355*	probably null	Het
Aacs	A	T	5: 125,580,691 (GRCm39)	N255I	possibly damaging	Het
Abcf2	A	G	5: 24,779,185 (GRCm39)	L121P	probably damaging	Het
Amigo1	A	G	3: 108,095,034 (GRCm39)	I178V	probably benign	Het
Ankrd13a	T	A	5: 114,933,793 (GRCm39)	N262K	probably damaging	Het
Apba2	A	G	7: 64,345,062 (GRCm39)	E84G	possibly damaging	Het
Arhgap35	A	T	7: 16,296,914 (GRCm39)	L717*	probably null	Het
Atp5mc3	A	G	2: 73,739,567 (GRCm39)	I91T	probably damaging	Het
Birc6	T	C	17: 75,004,420 (GRCm39)	M4763T	possibly damaging	Het
Cc2d2b	A	G	19: 40,753,927 (GRCm39)	Y150C	unknown	Het
Ccdc180	C	T	4: 45,920,861 (GRCm39)	Q936*	probably null	Het
Cdc42bpg	A	G	19: 6,370,115 (GRCm39)	E1103G	probably benign	Het
Cdca2	T	C	14: 67,915,003 (GRCm39)	Q752R	probably benign	Het
Ces1b	A	T	8: 93,791,637 (GRCm39)	S321T	probably benign	Het
Cfap70	A	T	14: 20,490,690 (GRCm39)		probably null	Het
Cpox	C	T	16: 58,490,984 (GRCm39)	T65I	possibly damaging	Het
Crocc	C	T	4: 140,748,988 (GRCm39)	E1606K	probably damaging	Het
Cryzl2	T	G	1: 157,316,038 (GRCm39)	M337R	probably benign	Het
Cyp4a29	C	A	4: 115,111,630 (GRCm39)	A469D	probably damaging	Het
Dnaaf1	T	A	8: 120,306,043 (GRCm39)	Y107N	possibly damaging	Het
Dpp6	T	A	5: 27,930,604 (GRCm39)	I812N	probably damaging	Het
Elovl5	A	G	9: 77,889,947 (GRCm39)	T253A	possibly damaging	Het
Fancd2	T	A	6: 113,530,717 (GRCm39)	L450*	probably null	Het
Fbxo31	C	T	8: 122,305,208 (GRCm39)	R96H	probably damaging	Het
Gls	A	T	1: 52,230,036 (GRCm39)		probably null	Het
Gm3045	G	A	13: 56,577,253 (GRCm39)	E134K	possibly damaging	Het
Gpr158	A	G	2: 21,830,054 (GRCm39)	I700V	probably damaging	Het
H2-Aa	T	C	17: 34,502,295 (GRCm39)	I209V	probably benign	Het
Ifnar2	A	G	16: 91,184,984 (GRCm39)	D125G	probably benign	Het
Igsf8	C	A	1: 172,145,319 (GRCm39)	D278E	possibly damaging	Het
Inpp5d	T	C	1: 87,623,128 (GRCm39)	I407T	probably damaging	Het
Iqcd	A	G	5: 120,744,737 (GRCm39)	E355G	probably damaging	Het
Klra2	T	A	6: 131,219,836 (GRCm39)	D115V	probably benign	Het
Kmt2b	T	C	7: 30,287,784 (GRCm39)	E120G	unknown	Het
Lhx6	A	G	2: 35,980,979 (GRCm39)	I321T	possibly damaging	Het
Lmna	CAGCACGGTGCGTGAGC	CAGC	3: 88,389,857 (GRCm39)		probably null	Het
Lztr1	T	C	16: 17,327,000 (GRCm39)	Y37H	probably damaging	Het
Malrd1	A	T	2: 15,570,026 (GRCm39)		probably null	Het
Mtmr3	C	T	11: 4,470,890 (GRCm39)	V79I	probably damaging	Het
Nbr1	A	G	11: 101,451,261 (GRCm39)	I56M	possibly damaging	Het
Ncor2	C	T	5: 125,125,545 (GRCm39)	A580T	unknown	Het
Ndst3	A	G	3: 123,353,866 (GRCm39)	I601T	possibly damaging	Het
Nectin4	C	A	1: 171,210,165 (GRCm39)	P219Q	probably damaging	Het
Nfatc4	T	C	14: 56,066,964 (GRCm39)	V501A	probably benign	Het
Nisch	T	C	14: 30,895,646 (GRCm39)	T1015A	probably damaging	Het
Nr2c1	T	C	10: 94,017,479 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,165,430 (GRCm39)	E394G	probably benign	Het
Oas1e	A	G	5: 120,932,347 (GRCm39)	F99L	probably benign	Het
Oaz3	A	T	3: 94,341,835 (GRCm39)	Y178*	probably null	Het
Or1e35	A	G	11: 73,798,097 (GRCm39)	S74P	possibly damaging	Het
Or6c69b	A	C	10: 129,627,022 (GRCm39)	S145R	probably damaging	Het
Pcdhb20	C	T	18: 37,637,839 (GRCm39)	H122Y	probably benign	Het
Pdcd2	T	A	17: 15,747,535 (GRCm39)	M1L	probably damaging	Het
Phf11	T	C	14: 59,482,240 (GRCm39)	N171S	probably benign	Het
Plcd1	C	A	9: 118,901,698 (GRCm39)	G609W	probably damaging	Het
Plscr3	T	C	11: 69,738,631 (GRCm39)	F98L	probably benign	Het
Ppp1r8	T	C	4: 132,570,407 (GRCm39)	N6S	probably benign	Het
Prpf38b	G	A	3: 108,818,859 (GRCm39)		probably benign	Het
Rin2	T	A	2: 145,702,202 (GRCm39)	N299K	possibly damaging	Het
Serpina1d	T	G	12: 103,734,299 (GRCm39)	T2P	probably benign	Het
Slc22a16	A	G	10: 40,461,125 (GRCm39)	D330G	probably benign	Het
Slit1	G	A	19: 41,731,832 (GRCm39)	Q6*	probably null	Het
Spaca7b	T	A	8: 11,705,681 (GRCm39)	E142V	probably benign	Het
Spag9	T	C	11: 93,887,119 (GRCm39)	V8A	possibly damaging	Het
Spsb3	C	T	17: 25,105,784 (GRCm39)	T44I	unknown	Het
Srrt	T	C	5: 137,295,732 (GRCm39)	Y563C	probably damaging	Het
Syne2	A	G	12: 75,926,951 (GRCm39)	D69G	probably damaging	Het
Tcf12	A	G	9: 71,792,443 (GRCm39)	V80A	probably benign	Het
Tdpoz3	G	A	3: 93,733,336 (GRCm39)	D4N	possibly damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tmem132d	G	A	5: 128,061,375 (GRCm39)	T409I	possibly damaging	Het
Tmem245	G	T	4: 56,947,119 (GRCm39)	T98K	probably damaging	Het
Tmem70	A	C	1: 16,735,659 (GRCm39)	E43A	probably benign	Het
Trim25	A	T	11: 88,907,188 (GRCm39)	I516F	probably damaging	Het
Trim3	G	A	7: 105,267,455 (GRCm39)	S308L	possibly damaging	Het
Ttll9	C	T	2: 152,831,989 (GRCm39)	R189*	probably null	Het
Ttpal	T	C	2: 163,449,596 (GRCm39)		probably null	Het
Ubl4b	A	T	3: 107,461,911 (GRCm39)	H116Q	probably benign	Het
Unc80	C	A	1: 66,651,287 (GRCm39)	T1544K	possibly damaging	Het
Usp2	T	C	9: 44,003,487 (GRCm39)		probably null	Het
Usp25	T	C	16: 76,874,123 (GRCm39)		probably null	Het
Vmn1r167	C	T	7: 23,204,990 (GRCm39)	V9I	probably benign	Het
Vmn2r87	A	G	10: 130,314,776 (GRCm39)	I270T	probably damaging	Het
Vps35l	G	A	7: 118,348,915 (GRCm39)		probably null	Het
Wdr24	A	G	17: 26,046,301 (GRCm39)	D515G	possibly damaging	Het
Wdr81	T	C	11: 75,341,650 (GRCm39)	T87A		Het
Zcchc14	A	T	8: 122,331,863 (GRCm39)	L500Q	unknown	Het
Zzef1	A	G	11: 72,758,786 (GRCm39)	T1242A	probably benign	Het

Other mutations in Aspa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Aspa	APN	11	73,204,447 (GRCm39)	splice site	probably benign
IGL02644:Aspa	APN	11	73,212,992 (GRCm39)	missense	probably damaging	1.00
boneloss	UTSW	11	73,196,420 (GRCm39)	missense	probably damaging	1.00
metrecal	UTSW	11	73,210,716 (GRCm39)	critical splice acceptor site	probably null
R1348:Aspa	UTSW	11	73,215,309 (GRCm39)	missense	probably damaging	0.99
R4034:Aspa	UTSW	11	73,199,597 (GRCm39)	missense	possibly damaging	0.89
R5441:Aspa	UTSW	11	73,196,420 (GRCm39)	missense	probably damaging	1.00
R6056:Aspa	UTSW	11	73,199,578 (GRCm39)	missense	probably damaging	0.97
R7366:Aspa	UTSW	11	73,210,716 (GRCm39)	critical splice acceptor site	probably null
R7531:Aspa	UTSW	11	73,204,351 (GRCm39)	nonsense	probably null
R7869:Aspa	UTSW	11	73,204,378 (GRCm39)	missense	probably benign	0.00
R8022:Aspa	UTSW	11	73,213,032 (GRCm39)	missense	probably benign	0.09
R8066:Aspa	UTSW	11	73,204,372 (GRCm39)	missense	possibly damaging	0.51
R9278:Aspa	UTSW	11	73,215,280 (GRCm39)	missense	possibly damaging	0.88
R9763:Aspa	UTSW	11	73,213,094 (GRCm39)	nonsense	probably null
X0018:Aspa	UTSW	11	73,215,133 (GRCm39)	missense	probably benign	0.13
Z1186:Aspa	UTSW	11	73,213,013 (GRCm39)	missense	probably benign
Z1187:Aspa	UTSW	11	73,213,013 (GRCm39)	missense	probably benign
Z1188:Aspa	UTSW	11	73,213,013 (GRCm39)	missense	probably benign
Z1189:Aspa	UTSW	11	73,213,013 (GRCm39)	missense	probably benign
Z1190:Aspa	UTSW	11	73,213,013 (GRCm39)	missense	probably benign
Z1191:Aspa	UTSW	11	73,213,013 (GRCm39)	missense	probably benign
Z1192:Aspa	UTSW	11	73,213,013 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTCTAGCAATGGAAAGTGGGC -3'
(R):5'- ATCACAGTGTTTGGCCTCTCTG -3'

Sequencing Primer
(F):5'- CAATGGAAAGTGGGCTGATATGATTC -3'
(R):5'- TCTGTGTAGGAGCCCCATACTG -3'

Posted On

2022-10-06