Mutagenetix > Incidental Mutation

Incidental Mutation 'R7132:Asl'

552739

Institutional Source

Beutler Lab

Gene Symbol

Asl

Ensembl Gene

ENSMUSG00000025533

Gene Name

argininosuccinate lyase

Synonyms

2510006M18Rik

MMRRC Submission

045217-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.396) question?

Stock #

R7132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130040099-130053222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130043543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 211 (V211A)

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: V7A

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: V211A

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123799
Gene: ENSMUSG00000025533
AA Change: V211A

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: V211A

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124579
Gene: ENSMUSG00000025533
AA Change: V211A

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: V211A

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124274
Gene: ENSMUSG00000025533
AA Change: V211A

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: V211A

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124487
Gene: ENSMUSG00000025533
AA Change: V211A

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: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	T	10: 69,825,744 (GRCm39)	A1471V		Het
Ankrd12	C	A	17: 66,290,242 (GRCm39)	M1730I	probably benign	Het
Ap2a2	T	C	7: 141,199,478 (GRCm39)	Y462H	probably benign	Het
Ap5b1	T	A	19: 5,619,412 (GRCm39)	Y277*	probably null	Het
App	T	C	16: 84,853,370 (GRCm39)	D236G	unknown	Het
Arid2	A	T	15: 96,247,894 (GRCm39)	K102I	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cbx2	A	G	11: 118,913,947 (GRCm39)	S5G	probably benign	Het
Ccdc183	A	G	2: 25,506,542 (GRCm39)		probably null	Het
Cd72	T	C	4: 43,452,444 (GRCm39)	Q183R	possibly damaging	Het
Cdh26	T	A	2: 178,128,555 (GRCm39)	D702E	possibly damaging	Het
Cfap61	A	T	2: 145,951,870 (GRCm39)	N784I	probably damaging	Het
Cgrrf1	G	A	14: 47,091,321 (GRCm39)	V282M	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cobll1	T	G	2: 64,964,112 (GRCm39)	K170Q	probably damaging	Het
Copg2	A	T	6: 30,792,931 (GRCm39)	V468D	probably benign	Het
Cracr2b	C	T	7: 141,043,651 (GRCm39)	A84V	probably benign	Het
Cyp2f2	A	T	7: 26,831,993 (GRCm39)	D416V	probably benign	Het
Dcaf10	T	C	4: 45,342,391 (GRCm39)	F75S	probably benign	Het
Eml3	G	T	19: 8,918,392 (GRCm39)	A829S	probably benign	Het
Entpd3	A	G	9: 120,390,086 (GRCm39)	T402A	probably benign	Het
Fer1l4	A	T	2: 155,887,546 (GRCm39)	V550E	probably damaging	Het
Fgb	G	A	3: 82,954,053 (GRCm39)	R62*	probably null	Het
Fubp1	T	A	3: 151,937,661 (GRCm39)		probably null	Het
Gdf3	A	C	6: 122,583,283 (GRCm39)	D361E	probably damaging	Het
Gm6685	A	T	11: 28,289,330 (GRCm39)	I162N	probably damaging	Het
Hmx2	A	G	7: 131,157,645 (GRCm39)	Y253C	probably damaging	Het
Ints2	G	T	11: 86,108,580 (GRCm39)	N922K	probably benign	Het
Ipo7	C	T	7: 109,653,254 (GRCm39)	L984F	probably benign	Het
Itgae	A	T	11: 73,002,184 (GRCm39)	Y96F	possibly damaging	Het
Kalrn	A	G	16: 34,076,597 (GRCm39)	V697A	unknown	Het
Kctd18	G	A	1: 58,006,737 (GRCm39)	R38*	probably null	Het
Kdm5b	A	G	1: 134,526,844 (GRCm39)	D322G	probably damaging	Het
Ldb3	A	G	14: 34,298,992 (GRCm39)	Y211H	probably benign	Het
Limch1	T	C	5: 67,111,028 (GRCm39)	F85S	probably damaging	Het
Lrrn4	A	T	2: 132,721,613 (GRCm39)	L68*	probably null	Het
Lrwd1	A	G	5: 136,152,129 (GRCm39)	V616A	possibly damaging	Het
Nars1	A	G	18: 64,640,841 (GRCm39)		probably null	Het
Nradd	T	C	9: 110,451,329 (GRCm39)	D13G	probably benign	Het
Oacyl	A	T	18: 65,831,480 (GRCm39)	N39I	probably damaging	Het
Onecut2	A	T	18: 64,473,983 (GRCm39)	H178L	possibly damaging	Het
Or9i14	T	A	19: 13,792,786 (GRCm39)	Q56L	probably benign	Het
Pcdhga4	A	C	18: 37,820,430 (GRCm39)	T660P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,942,102 (GRCm39)	I902F	possibly damaging	Het
Plod3	T	C	5: 137,023,971 (GRCm39)	L180S		Het
Prrc2c	A	T	1: 162,508,850 (GRCm39)	H2354Q	possibly damaging	Het
Pth2r	A	G	1: 65,361,225 (GRCm39)	E58G	probably benign	Het
Rev1	G	T	1: 38,110,530 (GRCm39)	D573E	possibly damaging	Het
Sec24a	A	T	11: 51,605,963 (GRCm39)	L696*	probably null	Het
Serpinb3c	A	G	1: 107,204,681 (GRCm39)	S22P	probably damaging	Het
St18	A	T	1: 6,929,351 (GRCm39)	H81L		Het
Stard9	A	T	2: 120,509,859 (GRCm39)	K266*	probably null	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Tcp10a	C	T	17: 7,612,351 (GRCm39)	T381I	probably benign	Het
Tecpr2	T	A	12: 110,881,806 (GRCm39)	V125D	probably damaging	Het
Tmc2	T	C	2: 130,074,329 (GRCm39)	S341P	possibly damaging	Het
Tmem190	G	A	7: 4,787,224 (GRCm39)	V143I	probably benign	Het
Trap1	A	G	16: 3,873,693 (GRCm39)	Y288H	probably benign	Het
Trim39	T	C	17: 36,571,547 (GRCm39)	T404A	probably benign	Het
Ttn	T	A	2: 76,576,043 (GRCm39)	K24950I	probably damaging	Het
Ttn	G	T	2: 76,774,696 (GRCm39)	N2161K	unknown	Het
Unc13b	T	C	4: 43,215,757 (GRCm39)	S19P	probably benign	Het
Uqcrc1	T	A	9: 108,778,536 (GRCm39)	I471N	probably damaging	Het
Wbp11	T	C	6: 136,798,540 (GRCm39)	T170A	probably benign	Het
Wnk4	A	G	11: 101,152,026 (GRCm39)	I177V	probably benign	Het
Zfp455	C	A	13: 67,347,230 (GRCm39)	P51T	probably damaging	Het
Zfp946	T	C	17: 22,673,644 (GRCm39)	Y133H	probably benign	Het
Zfp955a	A	T	17: 33,460,589 (GRCm39)	Y514*	probably null	Het
Zzef1	T	C	11: 72,808,697 (GRCm39)		probably null	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
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'- TAGTCTCAATACCCATAGGCAAG -3'
(R):5'- TGTTCCCTGCATGGTGAAAC -3'

Sequencing Primer
(F):5'- TTGCACTGTGTAGCTGAGACCAC -3'
(R):5'- TGCATGTGATTGGTACCC -3'

Posted On

2019-05-15