Mutagenetix > Incidental Mutation

Incidental Mutation 'R3081:Asl'

265418

Institutional Source

Beutler Lab

Gene Symbol

Asl

Ensembl Gene

ENSMUSG00000025533

Gene Name

argininosuccinate lyase

Synonyms

2510006M18Rik

MMRRC Submission

040571-MU

Accession Numbers

Essential gene?

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

Stock #

R3081 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130040099-130053222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130042245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 277 (Y277C)

Ref Sequence

ENSEMBL: ENSMUSP00000124274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159619] [ENSMUST00000160129] [ENSMUST00000161094] [ENSMUST00000161640]

AlphaFold

Q91YI0

Predicted Effect

unknown
Transcript: ENSMUST00000159096
AA Change: Y79C

SMART Domains

Protein: ENSMUSP00000125143
Gene: ENSMUSG00000025533
AA Change: Y79C

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: Y277C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123799
Gene: ENSMUSG00000025533
AA Change: Y277C

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: Y277C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124579
Gene: ENSMUSG00000025533
AA Change: Y277C

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

noncoding transcript
Transcript: ENSMUST00000160557

Predicted Effect

probably damaging
Transcript: ENSMUST00000161094
AA Change: Y277C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124274
Gene: ENSMUSG00000025533
AA Change: Y277C

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 benign
Transcript: ENSMUST00000161640

SMART Domains

Protein: ENSMUSP00000124487
Gene: ENSMUSG00000025533

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

Meta Mutation Damage Score

0.9017

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (58/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamdc	T	A	7: 97,214,432 (GRCm39)	T48S	probably benign	Het
Abcc3	T	A	11: 94,247,802 (GRCm39)	L1230F	probably damaging	Het
Abcf3	T	A	16: 20,378,114 (GRCm39)	I542N	probably benign	Het
Als2	A	G	1: 59,226,508 (GRCm39)	L932P	probably damaging	Het
Arhgap45	G	A	10: 79,862,281 (GRCm39)	R583H	probably damaging	Het
Bcl9	A	T	3: 97,112,989 (GRCm39)	N1155K	possibly damaging	Het
Carm1	C	A	9: 21,490,692 (GRCm39)		probably null	Het
Cdkn2aip	T	C	8: 48,164,532 (GRCm39)	K394E	probably damaging	Het
Cfap70	A	G	14: 20,470,830 (GRCm39)	Y472H	probably damaging	Het
Cfap77	T	A	2: 28,852,662 (GRCm39)	K203N	probably damaging	Het
Cldn14	T	C	16: 93,716,192 (GRCm39)	K218R	probably damaging	Het
Coro6	T	C	11: 77,359,738 (GRCm39)	F336S	probably damaging	Het
Derl1	C	A	15: 57,739,007 (GRCm39)		probably benign	Het
Dixdc1	G	A	9: 50,622,259 (GRCm39)	A25V	probably damaging	Het
Dock2	T	A	11: 34,181,610 (GRCm39)	H1651L	probably benign	Het
Dock6	A	G	9: 21,750,496 (GRCm39)	F473L	possibly damaging	Het
Dzip3	T	C	16: 48,747,921 (GRCm39)	H1163R	probably damaging	Het
Efcab9	T	C	11: 32,473,689 (GRCm39)	D35G	probably benign	Het
Evpl	T	C	11: 116,111,678 (GRCm39)	D2004G	probably damaging	Het
Faiml	A	G	9: 99,114,527 (GRCm39)	C121R	probably damaging	Het
Fastkd3	T	C	13: 68,732,987 (GRCm39)	V436A	probably benign	Het
Fbxl5	A	G	5: 43,908,222 (GRCm39)	Y660H	probably damaging	Het
Glt8d1	T	C	14: 30,728,617 (GRCm39)	V15A	probably benign	Het
Gpr25	A	C	1: 136,187,623 (GRCm39)	I330S	possibly damaging	Het
Hdac5	A	T	11: 102,096,436 (GRCm39)	V257E	probably damaging	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Lrriq1	T	A	10: 102,980,750 (GRCm39)	S1462C	probably damaging	Het
Mgat3	A	G	15: 80,096,055 (GRCm39)	D294G	probably benign	Het
Mylk2	A	G	2: 152,761,274 (GRCm39)	N459S	probably benign	Het
Myo3b	A	C	2: 70,086,927 (GRCm39)		probably benign	Het
Naip6	T	C	13: 100,436,961 (GRCm39)	T521A	probably benign	Het
Nfxl1	C	T	5: 72,686,378 (GRCm39)	A608T	possibly damaging	Het
Nmd3	A	G	3: 69,631,732 (GRCm39)		probably benign	Het
Nol8	C	T	13: 49,831,868 (GRCm39)		probably benign	Het
Or1e29	A	T	11: 73,668,051 (GRCm39)	M34K	probably damaging	Het
Or8b12i	C	A	9: 20,082,061 (GRCm39)	G269W	probably benign	Het
Or8b42	T	A	9: 38,342,352 (GRCm39)	M258K	possibly damaging	Het
Or8g34	G	A	9: 39,373,226 (GRCm39)	M166I	probably benign	Het
Pcdhgb2	T	C	18: 37,824,566 (GRCm39)	F519S	probably damaging	Het
Phf11c	A	G	14: 59,618,933 (GRCm39)	V284A	probably benign	Het
Rasl11a	G	T	5: 146,784,113 (GRCm39)	C186F	probably benign	Het
Rps18-ps3	T	C	8: 107,989,469 (GRCm39)		noncoding transcript	Het
Rusc1	A	G	3: 88,999,030 (GRCm39)	S251P	possibly damaging	Het
Rxfp3	T	C	15: 11,037,303 (GRCm39)	E23G	probably benign	Het
Senp6	G	A	9: 80,051,124 (GRCm39)	A1134T	probably benign	Het
Slc22a4	A	G	11: 53,898,615 (GRCm39)	V159A	probably benign	Het
Spata31d1a	T	C	13: 59,850,907 (GRCm39)	N407S	probably benign	Het
Ssc4d	T	C	5: 135,994,578 (GRCm39)	T51A	possibly damaging	Het
Stip1	C	T	19: 7,013,016 (GRCm39)	A23T	probably benign	Het
Tecta	A	T	9: 42,289,290 (GRCm39)	M425K	possibly damaging	Het
Tmed4	T	C	11: 6,224,151 (GRCm39)	H115R	probably benign	Het
Tmem255b	T	A	8: 13,501,048 (GRCm39)	L74H	probably damaging	Het
Trav6n-5	A	T	14: 53,342,741 (GRCm39)	H93L	possibly damaging	Het
Tsen54	T	A	11: 115,710,990 (GRCm39)	D187E	probably benign	Het
Ttc39d	A	G	17: 80,524,982 (GRCm39)	Y547C	probably damaging	Het
Vmn2r88	A	G	14: 51,656,089 (GRCm39)	N775S	probably damaging	Het
Vps13a	G	T	19: 16,642,101 (GRCm39)	N2175K	probably benign	Het
Wnk4	A	G	11: 101,167,717 (GRCm39)		probably benign	Het
Zfp180	A	T	7: 23,804,928 (GRCm39)	Q449L	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
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
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'- TTTCTTCTGGGGCATCAAGCTG -3'
(R):5'- GAGAGACTTTGTGGGTAAGACC -3'

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

Posted On

2015-02-05