Mutagenetix > Incidental Mutation

Incidental Mutation 'R4611:Asl'

344706

Institutional Source

Beutler Lab

Gene Symbol

Asl

Ensembl Gene

ENSMUSG00000025533

Gene Name

argininosuccinate lyase

Synonyms

2510006M18Rik

MMRRC Submission

041822-MU

Accession Numbers

Essential gene?

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

Stock #

R4611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130040099-130053222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 130047157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 147 (A147E)

Ref Sequence

ENSEMBL: ENSMUSP00000124487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159619] [ENSMUST00000160129] [ENSMUST00000161094] [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 damaging
Transcript: ENSMUST00000159619
AA Change: A147E

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

SMART Domains

Protein: ENSMUSP00000123799
Gene: ENSMUSG00000025533
AA Change: A147E

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: A147E

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

SMART Domains

Protein: ENSMUSP00000124579
Gene: ENSMUSG00000025533
AA Change: A147E

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: A147E

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

SMART Domains

Protein: ENSMUSP00000124274
Gene: ENSMUSG00000025533
AA Change: A147E

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: A147E

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

SMART Domains

Protein: ENSMUSP00000124487
Gene: ENSMUSG00000025533
AA Change: A147E

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162230

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,885,259 (GRCm39)	R200C	probably benign	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Aoc1l1	A	T	6: 48,952,090 (GRCm39)	Q5L	probably benign	Het
Apc	T	C	18: 34,451,618 (GRCm39)	L2804P	probably damaging	Het
Apob	C	A	12: 8,061,331 (GRCm39)	A3271E	probably damaging	Het
Atp1a1	A	G	3: 101,494,259 (GRCm39)	V447A	probably benign	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Bcl11b	T	C	12: 107,882,789 (GRCm39)	K509E	probably damaging	Het
Btnl1	T	C	17: 34,598,699 (GRCm39)	I105T	probably damaging	Het
Btnl10	A	G	11: 58,811,183 (GRCm39)	T169A	probably damaging	Het
C8b	T	C	4: 104,647,841 (GRCm39)	I278T	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd8b1	T	C	6: 71,309,459 (GRCm39)	V181A	probably benign	Het
Cdan1	A	T	2: 120,561,201 (GRCm39)	V189D	probably damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cfap52	T	C	11: 67,817,247 (GRCm39)	N549D	probably damaging	Het
Cmklr1	C	T	5: 113,752,930 (GRCm39)	V24M	probably benign	Het
Cntnap4	G	T	8: 113,500,371 (GRCm39)		probably null	Het
Col27a1	G	A	4: 63,211,743 (GRCm39)	G91R	probably damaging	Het
Col5a3	A	G	9: 20,726,192 (GRCm39)		probably benign	Het
Dcc	C	T	18: 71,682,069 (GRCm39)		probably null	Het
Deaf1	T	A	7: 140,890,884 (GRCm39)	T433S	possibly damaging	Het
Dnah8	T	A	17: 30,903,211 (GRCm39)	L950H	probably damaging	Het
Dnajc7	A	T	11: 100,481,803 (GRCm39)	Y228*	probably null	Het
Eno1b	T	C	18: 48,180,770 (GRCm39)	V316A	probably damaging	Het
Exoc4	T	C	6: 33,415,340 (GRCm39)	M404T	possibly damaging	Het
Fignl1	A	T	11: 11,751,268 (GRCm39)	C596S	probably benign	Het
Fn1	A	C	1: 71,663,337 (GRCm39)	Y1050*	probably null	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gba2	T	A	4: 43,568,092 (GRCm39)	S732C	probably damaging	Het
Gcnt4	C	A	13: 97,082,990 (GRCm39)	S95R	probably benign	Het
Gpr37	A	G	6: 25,669,623 (GRCm39)	V407A	probably benign	Het
Gria2	A	T	3: 80,599,799 (GRCm39)	M695K	probably damaging	Het
Hoxa9	T	C	6: 52,202,690 (GRCm39)	K132R	probably damaging	Het
Ifi213	T	A	1: 173,417,480 (GRCm39)	T311S	possibly damaging	Het
Itgb2	T	A	10: 77,385,884 (GRCm39)	N282K	probably damaging	Het
Kcnh8	A	T	17: 52,909,864 (GRCm39)	Q11L	probably benign	Het
Klk14	T	C	7: 43,343,781 (GRCm39)	C163R	probably damaging	Het
Klk1b3	T	A	7: 43,850,689 (GRCm39)	W74R	possibly damaging	Het
Krtap13-1	G	T	16: 88,526,142 (GRCm39)	C122F	possibly damaging	Het
Luzp2	T	C	7: 54,713,104 (GRCm39)		probably null	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,570,576 (GRCm39)	V1211E	probably benign	Het
Myb	T	A	10: 21,021,223 (GRCm39)	D402V	probably damaging	Het
Ncor2	G	A	5: 125,107,923 (GRCm39)	T1593I	probably damaging	Het
Ndst3	A	G	3: 123,465,198 (GRCm39)	I258T	probably benign	Het
Npy6r	C	A	18: 44,409,468 (GRCm39)	H296Q	probably damaging	Het
Olfml2b	T	A	1: 170,472,516 (GRCm39)	L9H	probably damaging	Het
Or10a3n	A	G	7: 108,493,324 (GRCm39)	C97R	probably damaging	Het
Or1a1b	A	T	11: 74,097,361 (GRCm39)	V227D	possibly damaging	Het
Or2w2	A	T	13: 21,757,744 (GRCm39)	V294D	probably damaging	Het
Or4k15	C	A	14: 50,364,530 (GRCm39)	N165K	probably benign	Het
Or5b119	C	T	19: 13,457,376 (GRCm39)	C62Y	probably damaging	Het
Or5b94	T	A	19: 12,652,318 (GRCm39)	Y250N	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Or8b8	T	A	9: 37,809,622 (GRCm39)	S307R	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Parg	G	A	14: 31,996,821 (GRCm39)	R304Q	probably damaging	Het
Pdf	T	G	8: 107,775,167 (GRCm39)	S22R	probably benign	Het
Phlpp2	A	T	8: 110,603,515 (GRCm39)	R60S	possibly damaging	Het
Piwil2	C	T	14: 70,639,646 (GRCm39)	E401K	probably benign	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Polr3a	T	C	14: 24,502,576 (GRCm39)		probably null	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Ptch2	G	A	4: 116,967,575 (GRCm39)	D748N	probably benign	Het
Rai14	A	C	15: 10,592,224 (GRCm39)	Y224D	probably damaging	Het
Rft1	A	G	14: 30,411,747 (GRCm39)	I432V	probably damaging	Het
Rictor	C	T	15: 6,816,625 (GRCm39)	A1299V	possibly damaging	Het
Sall2	A	G	14: 52,551,210 (GRCm39)	C662R	probably damaging	Het
Scn4b	A	G	9: 45,061,737 (GRCm39)	N208D	probably damaging	Het
Sdhb	G	A	4: 140,700,226 (GRCm39)	G109R	probably damaging	Het
Sec16a	A	G	2: 26,331,817 (GRCm39)	V66A	probably benign	Het
Sema4g	A	G	19: 44,990,051 (GRCm39)	Y710C	probably damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Shc4	T	A	2: 125,497,602 (GRCm39)	D369V	probably benign	Het
Siglech	T	C	7: 55,421,441 (GRCm39)	L285P	probably damaging	Het
Skint6	A	G	4: 112,931,273 (GRCm39)	M506T	probably benign	Het
Slco1a6	C	A	6: 142,047,378 (GRCm39)	C404F	probably benign	Het
Slfn14	T	A	11: 83,174,140 (GRCm39)	K284*	probably null	Het
Sox14	A	G	9: 99,757,715 (GRCm39)	I8T	probably damaging	Het
Srpk3	A	G	X: 72,818,547 (GRCm39)	H79R	possibly damaging	Het
Tdpoz3	A	T	3: 93,734,330 (GRCm39)	H335L	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tnik	T	C	3: 28,596,249 (GRCm39)		probably null	Het
Tnpo2	T	C	8: 85,780,432 (GRCm39)	S720P	probably benign	Het
Tpst1	A	G	5: 130,130,547 (GRCm39)	K6E	probably damaging	Het
Trank1	T	A	9: 111,191,329 (GRCm39)	I446N	probably damaging	Het
Trmt44	A	T	5: 35,732,351 (GRCm39)	D13E	probably benign	Het
Ubr4	T	A	4: 139,126,890 (GRCm39)	V471E	possibly damaging	Het
Ubtd1	A	G	19: 42,022,030 (GRCm39)	T101A	probably benign	Het
Ugt3a1	A	T	15: 9,306,486 (GRCm39)	K212*	probably null	Het
Zbtb7c	C	T	18: 76,269,918 (GRCm39)	A2V	possibly damaging	Het
Zfp423	C	T	8: 88,414,709 (GRCm39)	G1182D	possibly damaging	Het
Zfp618	G	A	4: 63,051,216 (GRCm39)	V666M	probably damaging	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo
Zscan20	T	C	4: 128,481,899 (GRCm39)	T588A	probably benign	Het
Zscan25	G	A	5: 145,227,926 (GRCm39)	R530H	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
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'- GATATAGACTCACCTCTGGCCC -3'
(R):5'- CTCTTAAGGCTCAGCTGCTG -3'

Sequencing Primer
(F):5'- CCCCAGAAGGAGCTAGAGTATAC -3'
(R):5'- TAAGGCTCAGCTGCTGTCCTG -3'

Posted On

2015-09-25