Mutagenetix > Incidental Mutation

Incidental Mutation 'R9183:Asl'

697176

Institutional Source

Beutler Lab

Gene Symbol

Asl

Ensembl Gene

ENSMUSG00000025533

Gene Name

argininosuccinate lyase

Synonyms

2510006M18Rik

MMRRC Submission

068950-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.377) question?

Stock #

R9183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130040099-130053222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130042312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 255 (R255W)

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: R57W

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 damaging
Transcript: ENSMUST00000159619
AA Change: R255W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123799
Gene: ENSMUSG00000025533
AA Change: R255W

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 damaging
Transcript: ENSMUST00000160129
AA Change: R255W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124579
Gene: ENSMUSG00000025533
AA Change: R255W

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 damaging
Transcript: ENSMUST00000161094
AA Change: R255W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124274
Gene: ENSMUSG00000025533
AA Change: R255W

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 damaging
Transcript: ENSMUST00000161640
AA Change: R255W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124487
Gene: ENSMUSG00000025533
AA Change: R255W

Domain	Start	End	E-Value	Type
Pfam:Lyase_1	11	262	7.2e-87	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	G	14: 8,251,559 (GRCm38)	C313R	probably damaging	Het
Adap2	A	G	11: 80,045,882 (GRCm39)	N54S	probably damaging	Het
Adcy8	T	C	15: 64,694,116 (GRCm39)	D387G	probably damaging	Het
Adgra1	G	A	7: 139,455,716 (GRCm39)	R448Q	probably benign	Het
Antxr1	A	T	6: 87,264,025 (GRCm39)	D148E	probably damaging	Het
Ap3d1	A	T	10: 80,545,627 (GRCm39)	V1034E	probably null	Het
Arpp21	C	T	9: 111,895,066 (GRCm39)	A731T	probably benign	Het
Asxl1	T	A	2: 153,239,840 (GRCm39)	S544T	probably damaging	Het
Atp8a1	A	C	5: 67,924,378 (GRCm39)	Y329D		Het
Calcr	A	T	6: 3,711,463 (GRCm39)	I186N	probably damaging	Het
Cdh18	T	C	15: 23,227,065 (GRCm39)		probably null	Het
Celsr3	T	C	9: 108,706,595 (GRCm39)	L1026P	probably damaging	Het
Ces2a	T	A	8: 105,460,774 (GRCm39)	V24E	possibly damaging	Het
Clybl	T	C	14: 122,639,387 (GRCm39)	I317T	probably damaging	Het
Col13a1	T	A	10: 61,699,758 (GRCm39)	T476S	unknown	Het
Cyp4f15	T	C	17: 32,919,205 (GRCm39)	S343P	probably damaging	Het
D630003M21Rik	T	C	2: 158,059,112 (GRCm39)	T263A	probably benign	Het
Fbxo28	A	G	1: 182,157,526 (GRCm39)	V97A	possibly damaging	Het
Frem2	C	T	3: 53,427,486 (GRCm39)	V2889I	probably damaging	Het
Garnl3	T	C	2: 32,895,080 (GRCm39)	E663G	probably damaging	Het
Gen1	T	A	12: 11,299,186 (GRCm39)	K338M	probably damaging	Het
Gfi1	A	G	5: 107,873,819 (GRCm39)		probably null	Het
Gfod2	A	G	8: 106,449,653 (GRCm39)	S95P	probably benign	Het
H2-T13	T	A	17: 36,392,382 (GRCm39)	H31L	unknown	Het
Heatr1	A	G	13: 12,436,266 (GRCm39)	Q1224R	probably damaging	Het
Hectd4	A	G	5: 121,437,551 (GRCm39)	K1059E	possibly damaging	Het
Hmgcs2	C	T	3: 98,198,232 (GRCm39)	A45V	possibly damaging	Het
Hnmt	C	A	2: 23,893,655 (GRCm39)	V280L	probably benign	Het
Ifi35	G	T	11: 101,348,091 (GRCm39)	V66L	probably benign	Het
Kcnn2	T	C	18: 45,694,379 (GRCm39)	I188T	probably damaging	Het
Klhl8	C	A	5: 104,012,111 (GRCm39)	A575S	probably benign	Het
Krt6a	T	C	15: 101,601,446 (GRCm39)	D225G	probably benign	Het
Lrtm2	T	C	6: 119,294,384 (GRCm39)	Y249C	probably damaging	Het
Med12l	C	T	3: 58,984,498 (GRCm39)	R479C	probably damaging	Het
Muc5ac	A	T	7: 141,352,637 (GRCm39)	Y709F	possibly damaging	Het
Nsd2	G	A	5: 34,028,796 (GRCm39)	A162T	probably damaging	Het
Or6c38	A	G	10: 128,929,201 (GRCm39)	M214T	probably benign	Het
Phaf1	C	A	8: 105,957,840 (GRCm39)	Q49K	probably benign	Het
Polr2h	T	C	16: 20,539,285 (GRCm39)	Y90H	possibly damaging	Het
Prkaa1	A	T	15: 5,205,969 (GRCm39)	E275V	probably damaging	Het
Prss22	C	T	17: 24,213,592 (GRCm39)	G233E	probably damaging	Het
Rhcg	A	T	7: 79,244,564 (GRCm39)	L496*	probably null	Het
Rnf213	A	G	11: 119,318,448 (GRCm39)	E1084G		Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,878,292 (GRCm39)		probably benign	Het
Slc14a1	T	A	18: 78,154,598 (GRCm39)	I263F	probably benign	Het
Slc40a1	C	T	1: 45,948,671 (GRCm39)	M536I	possibly damaging	Het
Slco6c1	T	A	1: 96,996,775 (GRCm39)		probably null	Het
Stk32a	T	C	18: 43,394,405 (GRCm39)	F118S	probably damaging	Het
Sytl1	G	T	4: 132,980,934 (GRCm39)	R467S	possibly damaging	Het
Thbs2	T	C	17: 14,896,526 (GRCm39)	I788V	probably benign	Het
Tmed6	T	A	8: 107,788,390 (GRCm39)	R186*	probably null	Het
Trnau1ap	G	A	4: 132,052,565 (GRCm39)	R78C	probably damaging	Het
Trpv1	A	T	11: 73,135,039 (GRCm39)	D412V	possibly damaging	Het
Ttc16	C	T	2: 32,647,329 (GRCm39)	V688M	probably benign	Het
Ubr5	C	A	15: 37,997,420 (GRCm39)	L1738F		Het
Vmn2r89	A	G	14: 51,692,501 (GRCm39)	I101M	probably benign	Het
Wdr27	C	T	17: 15,148,651 (GRCm39)	R114Q	possibly damaging	Het
Wdr48	A	G	9: 119,749,730 (GRCm39)	H563R	possibly damaging	Het
Wdr49	A	C	3: 75,205,419 (GRCm39)	S666A	probably benign	Het
Wwox	T	C	8: 115,433,110 (GRCm39)	S259P	probably damaging	Het
Zfp160	T	A	17: 21,240,354 (GRCm39)	D12E	possibly damaging	Het
Zfp800	A	G	6: 28,243,172 (GRCm39)	Y598H	probably benign	Het
Zfp970	T	C	2: 177,167,536 (GRCm39)	L370P	probably damaging	Het
Zmat5	A	T	11: 4,672,431 (GRCm39)	D16V	probably damaging	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
R8410:Asl	UTSW	5	130,042,351 (GRCm39)	missense	possibly damaging	0.95
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'- TCTTCTGGGGCATCAAGCTG -3'
(R):5'- ATGGATGCCACCAGTGAGAG -3'

Sequencing Primer
(F):5'- ATCAAGCTGCTTCCGGTG -3'
(R):5'- AATTTGTGACCAGCCTGAGC -3'

Posted On

2022-02-07