Mutagenetix > Incidental Mutation

Incidental Mutation 'R6176:Asl'

487757

Institutional Source

Beutler Lab

Gene Symbol

Asl

Ensembl Gene

ENSMUSG00000025533

Gene Name

argininosuccinate lyase

Synonyms

2510006M18Rik

MMRRC Submission

044318-MU

Accession Numbers

Essential gene?

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

Stock #

R6176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130040099-130053222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130047720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 82 (H82L)

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 benign
Transcript: ENSMUST00000159619
AA Change: H82L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123799
Gene: ENSMUSG00000025533
AA Change: H82L

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: ENSMUST00000160129
AA Change: H82L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124579
Gene: ENSMUSG00000025533
AA Change: H82L

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 benign
Transcript: ENSMUST00000161094
AA Change: H82L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124274
Gene: ENSMUSG00000025533
AA Change: H82L

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
AA Change: H82L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124487
Gene: ENSMUSG00000025533
AA Change: H82L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (60/62)

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
Akna	T	C	4: 63,295,969 (GRCm39)	Q966R	probably benign	Het
Amn	A	G	12: 111,240,590 (GRCm39)	D74G	possibly damaging	Het
Ank2	T	A	3: 126,739,120 (GRCm39)	T2255S	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Apaf1	A	G	10: 90,895,433 (GRCm39)		probably null	Het
Atrn	A	G	2: 130,788,011 (GRCm39)	E271G	probably benign	Het
B4galnt3	A	G	6: 120,201,125 (GRCm39)	F184S	probably damaging	Het
C1s2	T	A	6: 124,602,768 (GRCm39)	H481L	probably damaging	Het
Cav2	A	G	6: 17,286,918 (GRCm39)	D58G	possibly damaging	Het
Cc2d2a	A	T	5: 43,866,455 (GRCm39)	H755L	probably benign	Het
Ccdc65	A	G	15: 98,606,433 (GRCm39)		probably null	Het
Celsr3	A	T	9: 108,705,554 (GRCm39)	Y679F	probably damaging	Het
Cep135	A	T	5: 76,772,490 (GRCm39)	Y625F	probably benign	Het
Cfhr1	A	G	1: 139,478,654 (GRCm39)	S58P	probably damaging	Het
Clip4	T	A	17: 72,113,628 (GRCm39)	C259*	probably null	Het
Cyp2j12	T	A	4: 96,029,074 (GRCm39)	Q69L	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Ecscr	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	18: 35,849,813 (GRCm39)		probably benign	Het
Efcab3	A	T	11: 104,683,383 (GRCm39)	I1604F	probably benign	Het
Fam43b	T	C	4: 138,122,522 (GRCm39)	D266G	probably damaging	Het
Fbxl13	T	A	5: 21,705,498 (GRCm39)	I618F	possibly damaging	Het
Gne	C	T	4: 44,053,019 (GRCm39)		probably benign	Het
Gnpat	T	A	8: 125,605,593 (GRCm39)	V321E	probably damaging	Het
Gpatch8	G	A	11: 102,378,350 (GRCm39)	A200V	unknown	Het
Grid1	C	A	14: 35,284,504 (GRCm39)	A749E	probably benign	Het
Grip2	C	T	6: 91,756,832 (GRCm39)	V540I	probably benign	Het
Ice2	C	T	9: 69,324,354 (GRCm39)	T759M	probably damaging	Het
Jrk	G	T	15: 74,578,189 (GRCm39)	N365K	possibly damaging	Het
Kank4	A	G	4: 98,653,791 (GRCm39)	I879T	probably damaging	Het
Krtap20-1	T	A	16: 88,812,288 (GRCm39)	Y24*	probably null	Het
Lao1	T	A	4: 118,819,197 (GRCm39)	M1K	probably null	Het
Mlf1	A	G	3: 67,291,927 (GRCm39)	R31G	probably damaging	Het
Nt5c3b	T	C	11: 100,330,974 (GRCm39)		probably benign	Het
Nusap1	A	G	2: 119,460,902 (GRCm39)	R132G	probably benign	Het
Or11g1	A	G	14: 50,651,847 (GRCm39)	Y282C	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5w20	G	A	2: 87,727,280 (GRCm39)	V254I	probably benign	Het
Or8d2b	A	C	9: 38,788,673 (GRCm39)	D67A	probably damaging	Het
Paqr9	G	T	9: 95,442,828 (GRCm39)	V273L	possibly damaging	Het
Pcdha9	A	T	18: 37,131,984 (GRCm39)	D351V	probably benign	Het
Pcdhga1	A	G	18: 37,797,282 (GRCm39)	D762G	probably benign	Het
Pde3a	T	A	6: 141,444,615 (GRCm39)	L1141Q	possibly damaging	Het
Pga5	T	A	19: 10,649,149 (GRCm39)		probably null	Het
Phldb3	C	A	7: 24,326,127 (GRCm39)	R570S	probably damaging	Het
Slc22a6	A	C	19: 8,599,161 (GRCm39)	E264A	probably damaging	Het
Slc49a4	C	T	16: 35,525,167 (GRCm39)	M426I	probably benign	Het
Slit1	T	C	19: 41,626,034 (GRCm39)	K576R	probably damaging	Het
Sox21	T	C	14: 118,473,040 (GRCm39)	K3R	possibly damaging	Het
Stk32c	A	T	7: 138,700,691 (GRCm39)	D297E	probably benign	Het
Suclg1	T	C	6: 73,252,326 (GRCm39)	V323A	probably damaging	Het
Tas1r2	T	G	4: 139,396,199 (GRCm39)	C513G	probably damaging	Het
Tbc1d23	A	G	16: 56,992,152 (GRCm39)	Y603H	probably damaging	Het
Tbc1d31	T	C	15: 57,816,192 (GRCm39)	V642A	probably damaging	Het
Tle2	A	T	10: 81,423,168 (GRCm39)	D486V	probably damaging	Het
Tmem232	A	G	17: 65,792,867 (GRCm39)	I110T	probably damaging	Het
Tmem39b	A	G	4: 129,586,894 (GRCm39)	Y106H	probably damaging	Het
Trpm4	T	G	7: 44,976,100 (GRCm39)	N229T	probably damaging	Het
Tspo	A	G	15: 83,458,007 (GRCm39)	T120A	probably benign	Het
Ttc28	G	A	5: 111,371,851 (GRCm39)	A767T	probably damaging	Het
Usp53	G	A	3: 122,727,652 (GRCm39)	Q977*	probably null	Het
Vmn1r215	T	A	13: 23,260,528 (GRCm39)	D189E	probably damaging	Het
Vmn2r12	T	C	5: 109,233,866 (GRCm39)	Y782C	probably benign	Het
Vmn2r54	A	G	7: 12,349,908 (GRCm39)	L558P	probably damaging	Het
Zfp268	T	A	4: 145,350,628 (GRCm39)	C688*	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
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'- GCTCACAGTTCAAGTGGTGAC -3'
(R):5'- TTCCTCAGGGATGGGGAAGTAG -3'

Sequencing Primer
(F):5'- TGACACTCCGTCCAGGTAG -3'
(R):5'- GTAGTCTATGGATCAGCTGCCATAC -3'

Posted On

2017-10-10