Incidental Mutation 'R9763:Aspa'
| ID |
735824 |
| 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)
|
| Stock # |
R9763 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
73195813-73217677 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 73213094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 83
(E83*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021119]
[ENSMUST00000134079]
[ENSMUST00000141898]
[ENSMUST00000155630]
[ENSMUST00000184572]
|
| AlphaFold |
Q8R3P0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021119
AA Change: E83*
|
| SMART Domains |
Protein: ENSMUSP00000021119
Gene: ENSMUSG00000020774
AA Change: E83*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AstE_AspA
|
9 |
300 |
8e-72 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000134079
AA Change: E83*
|
| SMART Domains |
Protein: ENSMUSP00000121135
Gene: ENSMUSG00000020774
AA Change: E83*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AstE_AspA
|
9 |
163 |
4.7e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141898
|
| SMART Domains |
Protein: ENSMUSP00000118109
Gene: ENSMUSG00000020774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AstE_AspA
|
9 |
93 |
2.3e-22 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155630
AA Change: E83*
|
| SMART Domains |
Protein: ENSMUSP00000139131
Gene: ENSMUSG00000020774
AA Change: E83*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AstE_AspA
|
9 |
196 |
3e-50 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000184572
AA Change: E83*
|
| SMART Domains |
Protein: ENSMUSP00000139318
Gene: ENSMUSG00000020774
AA Change: E83*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AstE_AspA
|
9 |
300 |
4.5e-71 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,302,717 (GRCm39) |
D2167E |
possibly damaging |
Het |
| Acadsb |
T |
A |
7: 131,045,327 (GRCm39) |
Y420N |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,014,126 (GRCm39) |
L176Q |
probably damaging |
Het |
| Amdhd1 |
T |
A |
10: 93,367,398 (GRCm39) |
K252M |
possibly damaging |
Het |
| Atat1 |
A |
G |
17: 36,220,899 (GRCm39) |
L10P |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,869,919 (GRCm39) |
N862I |
probably damaging |
Het |
| Cdkal1 |
A |
T |
13: 29,809,692 (GRCm39) |
C217* |
probably null |
Het |
| Cttnbp2 |
C |
T |
6: 18,435,240 (GRCm39) |
S206N |
probably benign |
Het |
| Dner |
A |
T |
1: 84,361,656 (GRCm39) |
I651N |
possibly damaging |
Het |
| Efcab3 |
G |
A |
11: 104,890,485 (GRCm39) |
G4189E |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 63,982,438 (GRCm39) |
V91A |
probably damaging |
Het |
| Gask1a |
A |
G |
9: 121,805,421 (GRCm39) |
D404G |
probably damaging |
Het |
| Gm13941 |
A |
G |
2: 110,931,518 (GRCm39) |
L38S |
unknown |
Het |
| Golph3l |
G |
A |
3: 95,517,085 (GRCm39) |
E198K |
possibly damaging |
Het |
| Hecw2 |
A |
C |
1: 53,963,074 (GRCm39) |
D812E |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,587,835 (GRCm39) |
E212V |
possibly damaging |
Het |
| Il6st |
C |
T |
13: 112,627,051 (GRCm39) |
S281F |
probably damaging |
Het |
| Kmt2d |
CTGTTG |
CTG |
15: 98,743,057 (GRCm39) |
|
probably benign |
Het |
| Krt71 |
T |
G |
15: 101,646,757 (GRCm39) |
K317T |
probably damaging |
Het |
| Lgi4 |
T |
C |
7: 30,760,020 (GRCm39) |
F72S |
probably damaging |
Het |
| Map3k1 |
C |
T |
13: 111,912,499 (GRCm39) |
R174H |
probably damaging |
Het |
| Marveld3 |
T |
A |
8: 110,688,375 (GRCm39) |
H122L |
probably benign |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,174 (GRCm39) |
S184P |
probably benign |
Het |
| Mylk |
G |
T |
16: 34,699,482 (GRCm39) |
G282* |
probably null |
Het |
| Myo16 |
T |
A |
8: 10,450,528 (GRCm39) |
M510K |
unknown |
Het |
| Naip5 |
C |
G |
13: 100,367,269 (GRCm39) |
A276P |
probably damaging |
Het |
| Or10a3 |
T |
A |
7: 108,480,874 (GRCm39) |
|
probably benign |
Het |
| Or10a3n |
T |
G |
7: 108,493,210 (GRCm39) |
I140L |
probably benign |
Het |
| Or3a1d |
T |
C |
11: 74,238,041 (GRCm39) |
Y3C |
probably damaging |
Het |
| Or4e5 |
T |
G |
14: 52,728,307 (GRCm39) |
Y38S |
probably damaging |
Het |
| Or8j3 |
A |
T |
2: 86,028,181 (GRCm39) |
M305K |
probably benign |
Het |
| Or9g20 |
T |
G |
2: 85,630,060 (GRCm39) |
N185H |
possibly damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,668,376 (GRCm39) |
Y843H |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,903,867 (GRCm39) |
V242A |
possibly damaging |
Het |
| Rbbp8 |
A |
T |
18: 11,865,261 (GRCm39) |
M717L |
probably benign |
Het |
| Rnf150 |
T |
C |
8: 83,732,968 (GRCm39) |
S272P |
probably benign |
Het |
| Rtraf |
A |
G |
14: 19,866,314 (GRCm39) |
V134A |
probably damaging |
Het |
| Rubcnl |
T |
A |
14: 75,287,108 (GRCm39) |
L592* |
probably null |
Het |
| Slc23a1 |
A |
G |
18: 35,755,364 (GRCm39) |
S484P |
probably damaging |
Het |
| Slmap |
A |
G |
14: 26,204,118 (GRCm39) |
Y68H |
probably damaging |
Het |
| Speer4b |
C |
A |
5: 27,705,206 (GRCm39) |
V56L |
probably damaging |
Het |
| Sycp2l |
T |
A |
13: 41,306,232 (GRCm39) |
S84T |
|
Het |
| Syne1 |
T |
C |
10: 5,007,858 (GRCm39) |
D122G |
probably benign |
Het |
| Timd2 |
G |
T |
11: 46,573,540 (GRCm39) |
P155T |
probably benign |
Het |
| Topbp1 |
G |
A |
9: 103,223,923 (GRCm39) |
R1401Q |
probably benign |
Het |
| Trim36 |
C |
A |
18: 46,309,125 (GRCm39) |
D312Y |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,818,860 (GRCm39) |
T1094A |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,186,988 (GRCm39) |
Y465N |
probably damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,062,531 (GRCm39) |
L530P |
probably damaging |
Het |
| Zmynd10 |
A |
T |
9: 107,425,965 (GRCm39) |
T100S |
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 |
|
R9667:Aspa
|
UTSW |
11 |
73,199,625 (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'- AGCCTCCCATTTTGCTATGG -3'
(R):5'- ACTGTGTGTAACTGCTGTCCTAG -3'
Sequencing Primer
(F):5'- CCCATTTTGCTATGGAATATAACCC -3'
(R):5'- AGATCTACTTCAGAGACTCACTTGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation