Mutagenetix > Incidental Mutation

Incidental Mutation 'R9278:Aspa'

703448

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?

Possibly non essential (E-score: 0.267) question?

Stock #

R9278 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73195813-73217677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73215280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 12 (K12E)

Ref Sequence

ENSEMBL: ENSMUSP00000021119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021119] [ENSMUST00000134079] [ENSMUST00000141898] [ENSMUST00000155630] [ENSMUST00000184572]

AlphaFold

Q8R3P0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021119
AA Change: K12E

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021119
Gene: ENSMUSG00000020774
AA Change: K12E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134079
AA Change: K12E

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121135
Gene: ENSMUSG00000020774
AA Change: K12E

Domain	Start	End	E-Value	Type
Pfam:AstE_AspA	9	163	4.7e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000141898
AA Change: K12E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118109
Gene: ENSMUSG00000020774
AA Change: K12E

Domain	Start	End	E-Value	Type
Pfam:AstE_AspA	9	93	2.3e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155630
AA Change: K12E

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139131
Gene: ENSMUSG00000020774
AA Change: K12E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184572
AA Change: K12E

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139318
Gene: ENSMUSG00000020774
AA Change: K12E

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

Coding Region Coverage

1x: 93.4%
3x: 93.4%
10x: 93.2%
20x: 92.9%

Validation Efficiency

97% (77/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Aicda	C	T	6: 122,538,854 (GRCm39)	A161V	possibly damaging	Het
Ankrd12	C	T	17: 66,344,599 (GRCm39)	E91K	possibly damaging	Het
Arpc2	C	A	1: 74,276,041 (GRCm39)	F19L	probably benign	Het
Chd8	G	A	14: 52,472,627 (GRCm39)	P392L	probably benign	Het
Cldn10	C	T	14: 119,111,647 (GRCm39)	R206W	probably damaging	Het
Clec4b2	T	A	6: 123,181,224 (GRCm39)	M203K	probably damaging	Het
Clec4d	G	T	6: 123,251,651 (GRCm39)	E178*	probably null	Het
Clec4d	T	C	6: 123,251,649 (GRCm39)	M177T	probably benign	Het
Cmpk2	A	T	12: 26,519,568 (GRCm39)	Y73F	probably benign	Het
Col1a1	T	A	11: 94,838,103 (GRCm39)	V845D	unknown	Het
Cyp2c67	C	T	19: 39,597,699 (GRCm39)	R433Q	probably damaging	Het
Dda1	A	T	8: 71,927,130 (GRCm39)		probably null	Het
Ddx60	A	T	8: 62,431,012 (GRCm39)	Y849F	possibly damaging	Het
Dnm2	C	T	9: 21,416,977 (GRCm39)	R837W	possibly damaging	Het
Dtwd1	C	T	2: 126,006,728 (GRCm39)	T250I	probably damaging	Het
Efcab6	A	G	15: 83,777,094 (GRCm39)	V1114A	probably damaging	Het
Fat4	A	G	3: 38,945,171 (GRCm39)	T1355A	probably benign	Het
Fbxo40	T	G	16: 36,789,940 (GRCm39)	D390A	possibly damaging	Het
Gnaz	T	A	10: 74,827,437 (GRCm39)	L63Q	probably benign	Het
H6pd	T	A	4: 150,080,307 (GRCm39)	K179N	probably damaging	Het
Hmgb2	A	G	8: 57,965,786 (GRCm39)		probably benign	Het
Hps5	A	G	7: 46,440,397 (GRCm39)	F18L	probably benign	Het
Hyal5	A	G	6: 24,876,694 (GRCm39)	E189G	probably benign	Het
Ifnar1	T	A	16: 91,302,013 (GRCm39)	I496N	probably damaging	Het
Ift70a2	T	C	2: 75,807,375 (GRCm39)	D379G	probably damaging	Het
Igf2r	C	A	17: 12,914,240 (GRCm39)	C1743F	probably damaging	Het
Igfn1	C	A	1: 135,901,185 (GRCm39)	R431L	probably damaging	Het
Itch	A	G	2: 155,045,217 (GRCm39)	Q507R	probably benign	Het
Kbtbd2	C	A	6: 56,757,331 (GRCm39)	R135L	probably damaging	Het
Kcnn2	T	C	18: 45,725,446 (GRCm39)	I314T	probably damaging	Het
Lix1	A	G	17: 17,623,211 (GRCm39)	D2G	probably damaging	Het
Lrp1b	T	C	2: 40,487,076 (GRCm39)	Y4557C		Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mcam	G	T	9: 44,046,473 (GRCm39)		probably benign	Het
Med19	G	T	2: 84,508,975 (GRCm39)	G63C	probably damaging	Het
Mfsd4b1	C	T	10: 39,883,330 (GRCm39)	R40H	probably damaging	Het
Neb	C	T	2: 52,146,190 (GRCm39)	R2929H	probably damaging	Het
Nlrc5	A	G	8: 95,237,908 (GRCm39)	D1434G	probably benign	Het
Nlrp14	A	T	7: 106,797,049 (GRCm39)	N972I	probably damaging	Het
Or13a18	T	C	7: 140,190,936 (GRCm39)	Y278H	probably damaging	Het
Or14j7	A	T	17: 38,235,275 (GRCm39)	M273L	probably benign	Het
Or2h15	A	T	17: 38,441,693 (GRCm39)	L130Q	probably damaging	Het
Or4a74	A	C	2: 89,439,948 (GRCm39)	F166C	probably damaging	Het
Or8g29-ps1	A	G	9: 39,200,781 (GRCm39)	V135A	probably benign	Het
Otop1	T	C	5: 38,460,158 (GRCm39)	V575A	probably damaging	Het
Pcdhb4	A	G	18: 37,441,925 (GRCm39)	S412G	possibly damaging	Het
Pcsk4	T	C	10: 80,161,224 (GRCm39)	D230G	probably damaging	Het
Phldb2	C	A	16: 45,646,308 (GRCm39)	S46I	probably damaging	Het
Pik3ca	A	T	3: 32,508,587 (GRCm39)	N785I	probably damaging	Het
Polr2b	A	G	5: 77,471,485 (GRCm39)	R274G	probably damaging	Het
Prkdc	G	A	16: 15,634,523 (GRCm39)		probably null	Het
Prune2	C	T	19: 17,101,144 (GRCm39)	T2216I	probably benign	Het
Psma3	A	T	12: 71,041,156 (GRCm39)	D252V	probably benign	Het
Rnf213	T	C	11: 119,326,768 (GRCm39)	V1586A		Het
Ryr2	T	C	13: 11,897,976 (GRCm39)	T140A	probably benign	Het
Slc25a48	A	G	13: 56,611,552 (GRCm39)	I220V	probably benign	Het
Slc2a1	A	T	4: 118,990,607 (GRCm39)	E246D	probably benign	Het
Slc45a4	A	G	15: 73,458,206 (GRCm39)	Y448H	probably benign	Het
Sorl1	C	T	9: 41,957,857 (GRCm39)	V596I	probably benign	Het
Spag6	A	C	2: 18,703,985 (GRCm39)	E11A	probably benign	Het
Spef2	A	G	15: 9,727,495 (GRCm39)		probably null	Het
Spon1	T	C	7: 113,628,188 (GRCm39)	S315P	probably damaging	Het
Stard3	G	A	11: 98,262,931 (GRCm39)		probably benign	Het
Sv2c	A	G	13: 96,112,589 (GRCm39)	M636T	probably damaging	Het
Syt17	T	A	7: 118,033,480 (GRCm39)	D172V	probably damaging	Het
Tcf4	A	G	18: 69,766,652 (GRCm39)	Y206C	probably damaging	Het
Tead2	G	T	7: 44,880,776 (GRCm39)	S318I	probably benign	Het
Tom1	A	T	8: 75,783,883 (GRCm39)	D289V	probably damaging	Het
Tonsl	A	G	15: 76,520,971 (GRCm39)		probably benign	Het
Tsen15	T	C	1: 152,259,098 (GRCm39)	I87V	probably damaging	Het
Usp15	A	G	10: 123,007,112 (GRCm39)	F123S	probably damaging	Het
Vmn1r220	A	T	13: 23,368,258 (GRCm39)	I146N	possibly damaging	Het
Vmn2r108	A	T	17: 20,692,561 (GRCm39)	N98K	probably benign	Het
Vmn2r71	T	A	7: 85,269,788 (GRCm39)	M433K	probably benign	Het
Vmn2r97	A	T	17: 19,134,762 (GRCm39)	H60L	probably benign	Het
Wbp4	A	G	14: 79,699,486 (GRCm39)	V336A	probably benign	Het
Zfp663	T	C	2: 165,202,010 (GRCm39)		probably null	Het
Zpld2	A	G	4: 133,922,770 (GRCm39)	L521P	probably damaging	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
R9667:Aspa	UTSW	11	73,199,625 (GRCm39)	nonsense	probably null
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'- CACGATTCAGGTCACAGTCAATG -3'
(R):5'- AGTGTCCATAGAATAAACAGGCTG -3'

Sequencing Primer
(F):5'- GTCACAGTCAATGTATCTGGTGCAC -3'
(R):5'- CAGTTGTGAAGTCAGTTCTCAAGAG -3'

Posted On

2022-03-25