Incidental Mutation 'R8410:Asl'
| ID |
652617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asl
|
| Ensembl Gene |
ENSMUSG00000025533 |
| Gene Name |
argininosuccinate lyase |
| Synonyms |
2510006M18Rik |
| MMRRC Submission |
067880-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.396)
|
| Stock # |
R8410 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
130040099-130053222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130042351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 242
(F242L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159619]
[ENSMUST00000160129]
[ENSMUST00000161094]
[ENSMUST00000161640]
|
| AlphaFold |
Q91YI0 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000125143
Gene: ENSMUSG00000025533
AA Change: F44L
| 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 |
possibly damaging
Transcript: ENSMUST00000159619
AA Change: F242L
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123799
Gene: ENSMUSG00000025533
AA Change: F242L
| 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 |
possibly damaging
Transcript: ENSMUST00000160129
AA Change: F242L
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124579
Gene: ENSMUSG00000025533
AA Change: F242L
| 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 |
possibly damaging
Transcript: ENSMUST00000161094
AA Change: F242L
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124274
Gene: ENSMUSG00000025533
AA Change: F242L
| 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 |
possibly damaging
Transcript: ENSMUST00000161640
AA Change: F242L
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124487
Gene: ENSMUSG00000025533
AA Change: F242L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lyase_1
|
11 |
262 |
7.2e-87 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
95% (40/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
A |
T |
12: 110,635,145 (GRCm39) |
M131K |
probably benign |
Het |
| Alox15 |
T |
C |
11: 70,235,753 (GRCm39) |
T569A |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,229,867 (GRCm39) |
V1278A |
possibly damaging |
Het |
| Armc5 |
C |
T |
7: 127,839,323 (GRCm39) |
R214C |
probably damaging |
Het |
| Atoh1 |
G |
A |
6: 64,706,634 (GRCm39) |
G110S |
probably benign |
Het |
| Caskin1 |
T |
C |
17: 24,721,123 (GRCm39) |
F488L |
possibly damaging |
Het |
| Chsy1 |
T |
A |
7: 65,775,211 (GRCm39) |
L180Q |
probably damaging |
Het |
| D1Pas1 |
A |
T |
1: 186,700,512 (GRCm39) |
Q147L |
probably benign |
Het |
| D930020B18Rik |
A |
G |
10: 121,521,435 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,395,819 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
G |
13: 38,380,791 (GRCm39) |
E2512G |
possibly damaging |
Het |
| Eci2 |
T |
C |
13: 35,162,018 (GRCm39) |
K351R |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,446,598 (GRCm39) |
V2390A |
possibly damaging |
Het |
| Frmpd2 |
G |
A |
14: 33,217,624 (GRCm39) |
A40T |
probably damaging |
Het |
| Gapdhs |
G |
A |
7: 30,437,335 (GRCm39) |
P77S |
unknown |
Het |
| Heatr5a |
T |
A |
12: 51,984,903 (GRCm39) |
I637F |
probably benign |
Het |
| Jakmip1 |
G |
A |
5: 37,274,828 (GRCm39) |
V449M |
possibly damaging |
Het |
| Myh14 |
G |
T |
7: 44,282,907 (GRCm39) |
F737L |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,944,684 (GRCm39) |
V560A |
probably damaging |
Het |
| Or13n4 |
T |
A |
7: 106,423,745 (GRCm39) |
|
probably benign |
Het |
| Or2v2 |
A |
T |
11: 49,004,511 (GRCm39) |
I14N |
possibly damaging |
Het |
| Or4f4-ps1 |
T |
A |
2: 111,330,047 (GRCm39) |
M150K |
probably damaging |
Het |
| Or6x1 |
C |
T |
9: 40,098,732 (GRCm39) |
T107I |
possibly damaging |
Het |
| Prex2 |
G |
T |
1: 11,223,881 (GRCm39) |
R735L |
possibly damaging |
Het |
| Rrm2 |
T |
C |
12: 24,758,622 (GRCm39) |
S55P |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Ruvbl2 |
T |
C |
7: 45,080,756 (GRCm39) |
I19V |
probably benign |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Slc15a5 |
A |
T |
6: 137,989,153 (GRCm39) |
M147K |
|
Het |
| St3gal5 |
A |
G |
6: 72,119,281 (GRCm39) |
D158G |
probably benign |
Het |
| Stac3 |
G |
A |
10: 127,339,199 (GRCm39) |
D103N |
probably damaging |
Het |
| Syt2 |
G |
A |
1: 134,674,602 (GRCm39) |
E347K |
possibly damaging |
Het |
| Tent5b |
A |
G |
4: 133,214,362 (GRCm39) |
Q411R |
possibly damaging |
Het |
| Ticrr |
A |
G |
7: 79,317,423 (GRCm39) |
E319G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,539,985 (GRCm39) |
S34334P |
probably damaging |
Het |
| Uqcrb |
C |
A |
13: 67,048,850 (GRCm39) |
R100L |
unknown |
Het |
| Usp43 |
T |
G |
11: 67,747,146 (GRCm39) |
T854P |
probably damaging |
Het |
| Vmn2r102 |
T |
C |
17: 19,898,196 (GRCm39) |
Y404H |
possibly damaging |
Het |
| Wrn |
C |
T |
8: 33,759,048 (GRCm39) |
G970D |
probably damaging |
Het |
| Zfp456 |
A |
G |
13: 67,520,915 (GRCm39) |
Y27H |
probably damaging |
Het |
| Zfp516 |
G |
T |
18: 82,974,458 (GRCm39) |
G219C |
probably damaging |
Het |
| Zyx |
A |
T |
6: 42,333,384 (GRCm39) |
N437Y |
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 |
|
|
R5278:Asl
|
UTSW |
5 |
130,047,672 (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 |
|
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'- TTTCTTCTGGGGCATCAAGC -3'
(R):5'- ATGGATGCCACCAGTGAGAG -3'
Sequencing Primer
(F):5'- ATCAAGCTGCTTCCGGTG -3'
(R):5'- AATTTGTGACCAGCCTGAGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation