Incidental Mutation 'R5278:Asl'
| ID |
404042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asl
|
| Ensembl Gene |
ENSMUSG00000025533 |
| Gene Name |
argininosuccinate lyase |
| Synonyms |
2510006M18Rik |
| MMRRC Submission |
042865-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.396)
|
| Stock # |
R5278 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
130040099-130053222 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 130047672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159619]
[ENSMUST00000159619]
[ENSMUST00000160129]
[ENSMUST00000160129]
[ENSMUST00000161094]
[ENSMUST00000161640]
[ENSMUST00000161640]
[ENSMUST00000161884]
|
| AlphaFold |
Q91YI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159096
|
| SMART Domains |
Protein: ENSMUSP00000125143
Gene: ENSMUSG00000025533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
1 |
108 |
3.7e-32 |
PFAM |
|
Pfam:ASL_C2
|
171 |
238 |
1.4e-21 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159619
|
| SMART Domains |
Protein: ENSMUSP00000123799
Gene: ENSMUSG00000025533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
11 |
305 |
2e-107 |
PFAM |
|
Pfam:ASL_C2
|
367 |
436 |
1.6e-26 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159619
|
| SMART Domains |
Protein: ENSMUSP00000123799
Gene: ENSMUSG00000025533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
11 |
305 |
2e-107 |
PFAM |
|
Pfam:ASL_C2
|
367 |
436 |
1.6e-26 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160129
|
| SMART Domains |
Protein: ENSMUSP00000124579
Gene: ENSMUSG00000025533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
11 |
305 |
1.8e-107 |
PFAM |
|
Pfam:ASL_C2
|
368 |
435 |
1.1e-22 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160129
|
| SMART Domains |
Protein: ENSMUSP00000124579
Gene: ENSMUSG00000025533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
11 |
305 |
1.8e-107 |
PFAM |
|
Pfam:ASL_C2
|
368 |
435 |
1.1e-22 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160208
|
| SMART Domains |
Protein: ENSMUSP00000125194
Gene: ENSMUSG00000025533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
11 |
175 |
4.6e-54 |
PFAM |
|
Pfam:Lyase_1
|
173 |
279 |
2.1e-40 |
PFAM |
|
Pfam:ASL_C2
|
341 |
410 |
9e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160557
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161094
|
| SMART Domains |
Protein: ENSMUSP00000124274
Gene: ENSMUSG00000025533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
11 |
305 |
2e-107 |
PFAM |
|
Pfam:ASL_C2
|
367 |
436 |
1.6e-26 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161640
|
| SMART Domains |
Protein: ENSMUSP00000124487
Gene: ENSMUSG00000025533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
11 |
262 |
7.2e-87 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161640
|
| SMART Domains |
Protein: ENSMUSP00000124487
Gene: ENSMUSG00000025533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
11 |
262 |
7.2e-87 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162230
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161884
|
| SMART Domains |
Protein: ENSMUSP00000123861
Gene: ENSMUSG00000025533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
32 |
74 |
1.6e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.9494 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene fed well initially but then stopped feeding and became inactive before dying within 48 hours of birth. Arginine metabolism is disrupted leading to abnormal circulating amino acid levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
C |
T |
5: 35,745,500 (GRCm39) |
|
probably benign |
Het |
| Acvr2b |
G |
A |
9: 119,261,555 (GRCm39) |
V383I |
probably damaging |
Het |
| Akap12 |
T |
C |
10: 4,304,792 (GRCm39) |
M534T |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,052,888 (GRCm39) |
E26K |
probably benign |
Het |
| Alcam |
A |
G |
16: 52,094,638 (GRCm39) |
I371T |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,552,203 (GRCm39) |
T794A |
probably benign |
Het |
| Apeh |
G |
A |
9: 107,968,457 (GRCm39) |
P349S |
probably benign |
Het |
| Asb7 |
G |
T |
7: 66,328,933 (GRCm39) |
Q36K |
possibly damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,728,129 (GRCm39) |
I574N |
probably damaging |
Het |
| Bcl2l2 |
T |
A |
14: 55,122,251 (GRCm39) |
I138N |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 30,074,881 (GRCm39) |
|
probably null |
Het |
| Ccdc9 |
C |
T |
7: 16,012,306 (GRCm39) |
W1* |
probably null |
Het |
| Cdh18 |
T |
A |
15: 23,474,244 (GRCm39) |
S705T |
probably benign |
Het |
| Ces5a |
A |
T |
8: 94,252,266 (GRCm39) |
W209R |
probably damaging |
Het |
| Chpf2 |
T |
A |
5: 24,793,088 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
T |
A |
17: 46,821,799 (GRCm39) |
H1892L |
probably damaging |
Het |
| Cxcl13 |
A |
G |
5: 96,106,586 (GRCm39) |
T53A |
probably benign |
Het |
| Cyp2s1 |
T |
A |
7: 25,505,309 (GRCm39) |
Y385F |
possibly damaging |
Het |
| Ddx46 |
A |
G |
13: 55,823,851 (GRCm39) |
E915G |
probably damaging |
Het |
| Elovl3 |
G |
A |
19: 46,122,540 (GRCm39) |
V113I |
probably benign |
Het |
| Fam53c |
A |
T |
18: 34,895,671 (GRCm39) |
|
probably benign |
Het |
| Fbxw15 |
A |
T |
9: 109,384,752 (GRCm39) |
F349L |
probably benign |
Het |
| Fuz |
C |
T |
7: 44,545,701 (GRCm39) |
P9L |
probably benign |
Het |
| Igf1r |
C |
T |
7: 67,843,166 (GRCm39) |
T759M |
possibly damaging |
Het |
| Impg2 |
G |
A |
16: 56,041,880 (GRCm39) |
D175N |
probably benign |
Het |
| Jade1 |
G |
T |
3: 41,543,444 (GRCm39) |
R43L |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,919,077 (GRCm39) |
E816G |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,803,641 (GRCm39) |
D262E |
probably damaging |
Het |
| Mrpl48 |
A |
G |
7: 100,201,790 (GRCm39) |
V156A |
probably damaging |
Het |
| Mst1 |
A |
C |
9: 107,959,414 (GRCm39) |
K233N |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,225,390 (GRCm39) |
I252V |
probably benign |
Het |
| Nox4 |
T |
C |
7: 87,021,134 (GRCm39) |
W449R |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,655 (GRCm39) |
L221P |
probably damaging |
Het |
| Or2l5 |
A |
T |
16: 19,334,128 (GRCm39) |
L86* |
probably null |
Het |
| Pank4 |
T |
C |
4: 155,056,622 (GRCm39) |
L351P |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,609,973 (GRCm39) |
|
probably null |
Het |
| Peg10 |
CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC |
CCATCAGGATGCACATCAGGATCC |
6: 4,756,442 (GRCm39) |
|
probably benign |
Het |
| Polr3e |
T |
A |
7: 120,522,184 (GRCm39) |
I10K |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,532,838 (GRCm39) |
I1489T |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2b |
A |
G |
11: 32,331,447 (GRCm39) |
D57G |
probably damaging |
Het |
| Shank2 |
G |
A |
7: 143,622,612 (GRCm39) |
|
probably null |
Het |
| Slc15a4 |
A |
T |
5: 127,694,033 (GRCm39) |
V134E |
probably damaging |
Het |
| Slc49a4 |
A |
G |
16: 35,518,358 (GRCm39) |
S452P |
probably damaging |
Het |
| Stxbp5l |
G |
T |
16: 37,007,016 (GRCm39) |
Q726K |
probably benign |
Het |
| Tesk2 |
T |
G |
4: 116,663,133 (GRCm39) |
|
probably benign |
Het |
| Tex2 |
A |
G |
11: 106,458,639 (GRCm39) |
S264P |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,704,209 (GRCm39) |
Q1003R |
probably damaging |
Het |
| Trip12 |
C |
T |
1: 84,739,868 (GRCm39) |
R628H |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,991 (GRCm39) |
H198Y |
probably benign |
Het |
|
| Other mutations in Asl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Asl
|
APN |
5 |
130,048,645 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01881:Asl
|
APN |
5 |
130,047,379 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02055:Asl
|
APN |
5 |
130,041,891 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02087:Asl
|
APN |
5 |
130,040,442 (GRCm39) |
nonsense |
probably null |
|
|
IGL02309:Asl
|
APN |
5 |
130,048,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03343:Asl
|
APN |
5 |
130,040,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2939:Asl
|
UTSW |
5 |
130,042,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3081:Asl
|
UTSW |
5 |
130,042,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4005:Asl
|
UTSW |
5 |
130,047,673 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4611:Asl
|
UTSW |
5 |
130,047,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Asl
|
UTSW |
5 |
130,042,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6176:Asl
|
UTSW |
5 |
130,047,720 (GRCm39) |
missense |
probably benign |
|
|
R6198:Asl
|
UTSW |
5 |
130,047,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6878:Asl
|
UTSW |
5 |
130,053,133 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7132:Asl
|
UTSW |
5 |
130,043,543 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7146:Asl
|
UTSW |
5 |
130,053,290 (GRCm39) |
unclassified |
probably benign |
|
|
R7654:Asl
|
UTSW |
5 |
130,047,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8104:Asl
|
UTSW |
5 |
130,040,791 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8410:Asl
|
UTSW |
5 |
130,042,351 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9183:Asl
|
UTSW |
5 |
130,042,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9625:Asl
|
UTSW |
5 |
130,047,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0065:Asl
|
UTSW |
5 |
130,042,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTGCTCACAGTTCAAGTG -3'
(R):5'- GGATCAGCTGCCATACAAGG -3'
Sequencing Primer
(F):5'- CTGCTCACAGTTCAAGTGGTGAC -3'
(R):5'- GCATTTAACCATGGTGGAACC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation