Mutagenetix > Incidental Mutation

Incidental Mutation 'R5187:Adsl'

397985

Institutional Source

Beutler Lab

Gene Symbol

Adsl

Ensembl Gene

ENSMUSG00000022407

Gene Name

adenylosuccinate lyase

Synonyms

MMRRC Submission

042766-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80832691-80855147 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 80833106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023043] [ENSMUST00000164806] [ENSMUST00000166711] [ENSMUST00000168756] [ENSMUST00000169238] [ENSMUST00000170354] [ENSMUST00000207170] [ENSMUST00000200201]

AlphaFold

P54822

Predicted Effect

probably benign
Transcript: ENSMUST00000023043

SMART Domains

Protein: ENSMUSP00000023043
Gene: ENSMUSG00000022407

Domain	Start	End	E-Value	Type
Pfam:Lyase_1	49	313	4.4e-29	PFAM
ADSL_C	377	461	5.65e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164371

Predicted Effect

probably benign
Transcript: ENSMUST00000164806

SMART Domains

Protein: ENSMUSP00000131998
Gene: ENSMUSG00000022407

Domain	Start	End	E-Value	Type
Pfam:Lyase_1	47	313	8.4e-29	PFAM
Blast:ADSL_C	377	416	2e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000166711

SMART Domains

Protein: ENSMUSP00000129601
Gene: ENSMUSG00000022407

Domain	Start	End	E-Value	Type
PDB:2VD6\|D	1	134	3e-87	PDB
SCOP:d1c3ca_	20	134	9e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168756

SMART Domains

Protein: ENSMUSP00000127593
Gene: ENSMUSG00000022407

Domain	Start	End	E-Value	Type
Pfam:Lyase_1	115	298	3.9e-25	PFAM
ADSL_C	362	446	5.65e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169238

SMART Domains

Protein: ENSMUSP00000132423
Gene: ENSMUSG00000022407

Domain	Start	End	E-Value	Type
PDB:2VD6\|D	1	134	3e-87	PDB
SCOP:d1c3ca_	20	134	9e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170354

Predicted Effect

probably benign
Transcript: ENSMUST00000207170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170777

Predicted Effect

probably benign
Transcript: ENSMUST00000200201

SMART Domains

Protein: ENSMUSP00000143188
Gene: ENSMUSG00000022407

Domain	Start	End	E-Value	Type
PDB:2VD6\|D	1	119	6e-77	PDB
SCOP:d1c3ca_	20	119	4e-21	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that is involved in adenosine monophosphate (AMP) biosynthesis and maintaining AMP levels in the muscle. The encoded enzyme catalyzes the release of fumarate during AMP biosynthesis by cleaving the substrates succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide (AICA) ribotide, and adenylosuccinate to give adenylate. In humans, this gene is associated with adenylosuccinate deficiency, a rare autosomal disorder resulting in a spectrum of neurological symptoms. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcg5	A	G	17: 84,965,992 (GRCm39)	L628S	probably damaging	Het
Acbd3	C	T	1: 180,564,297 (GRCm39)	R201*	probably null	Het
Asic1	GCACC	GCACCACC	15: 99,596,684 (GRCm39)		probably benign	Het
Cachd1	T	C	4: 100,823,397 (GRCm39)	V483A	possibly damaging	Het
Calm1	T	C	12: 100,166,472 (GRCm39)	S19P	probably benign	Het
Casq1	T	C	1: 172,040,641 (GRCm39)	N313S	possibly damaging	Het
Cav2	G	T	6: 17,286,935 (GRCm39)	A64S	possibly damaging	Het
Ccdc167	C	A	17: 29,924,485 (GRCm39)	A39S	possibly damaging	Het
Cd274	T	C	19: 29,359,936 (GRCm39)	L247P	probably benign	Het
Cdhr5	T	C	7: 140,854,361 (GRCm39)	E138G	probably damaging	Het
Cltb	C	T	13: 54,741,693 (GRCm39)	C81Y	probably benign	Het
Clvs1	T	C	4: 9,281,865 (GRCm39)	L103P	possibly damaging	Het
Cntrob	G	T	11: 69,212,717 (GRCm39)	Q106K	possibly damaging	Het
Ctsh	T	C	9: 89,936,643 (GRCm39)	L14P	probably damaging	Het
Cubn	T	C	2: 13,292,379 (GRCm39)	N3268S	probably damaging	Het
Cyb5r4	T	C	9: 86,909,001 (GRCm39)	V26A	possibly damaging	Het
Ddx18	A	G	1: 121,489,857 (GRCm39)	I184T	probably damaging	Het
Ddx60	T	A	8: 62,427,222 (GRCm39)	W766R	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnah5	G	A	15: 28,272,318 (GRCm39)	V1041I	probably benign	Het
Dnajc21	A	T	15: 10,464,050 (GRCm39)	N38K	probably benign	Het
Ermap	T	C	4: 119,043,015 (GRCm39)		probably null	Het
Fryl	A	G	5: 73,243,943 (GRCm39)	L1209P	possibly damaging	Het
Gm5093	T	C	17: 46,750,799 (GRCm39)	E76G	possibly damaging	Het
Grk6	T	C	13: 55,599,519 (GRCm39)	C169R	probably damaging	Het
Hmgn1	A	T	16: 95,923,627 (GRCm39)		probably null	Het
Lpcat2b	T	A	5: 107,582,001 (GRCm39)	Y443*	probably null	Het
Macf1	T	A	4: 123,365,882 (GRCm39)	M1395L	probably benign	Het
Mllt10	C	T	2: 18,213,585 (GRCm39)	Q997*	probably null	Het
Mocos	T	A	18: 24,825,611 (GRCm39)	V722E	probably damaging	Het
Moxd2	A	T	6: 40,856,271 (GRCm39)	L534M	probably benign	Het
Mphosph10	T	C	7: 64,035,568 (GRCm39)	M368V	possibly damaging	Het
Myo15a	G	A	11: 60,394,440 (GRCm39)	G2383D	probably damaging	Het
Myo5b	T	C	18: 74,834,745 (GRCm39)	I935T	possibly damaging	Het
Ndst4	T	A	3: 125,231,560 (GRCm39)	L43H	probably damaging	Het
Niban1	T	A	1: 151,579,580 (GRCm39)	L433Q	possibly damaging	Het
Nsl1	A	G	1: 190,807,387 (GRCm39)	N189D	probably benign	Het
Odad1	A	G	7: 45,578,540 (GRCm39)	I77V	probably damaging	Het
Or51e1	A	T	7: 102,358,868 (GRCm39)	H134L	probably damaging	Het
Pcdh8	T	C	14: 80,007,594 (GRCm39)	D323G	probably damaging	Het
Pkhd1	A	G	1: 20,279,448 (GRCm39)	S2957P	possibly damaging	Het
Prdm9	T	G	17: 15,783,155 (GRCm39)	E42D	probably damaging	Het
Rasal1	C	A	5: 120,813,460 (GRCm39)	H611Q	probably benign	Het
Relch	T	A	1: 105,646,534 (GRCm39)	L620*	probably null	Het
Rif1	T	A	2: 51,971,301 (GRCm39)	W260R	probably damaging	Het
Rpain	A	G	11: 70,864,658 (GRCm39)	D115G	probably benign	Het
Rpl3l	T	C	17: 24,951,429 (GRCm39)	V110A	possibly damaging	Het
Ryr2	T	A	13: 11,787,338 (GRCm39)	I1012F	probably damaging	Het
Sema4f	A	G	6: 82,894,631 (GRCm39)	V480A	probably benign	Het
Slc35a3	T	A	3: 116,474,794 (GRCm39)	K199N	probably damaging	Het
Slc5a6	T	C	5: 31,200,322 (GRCm39)	Y121C	probably damaging	Het
Slc7a14	T	C	3: 31,291,514 (GRCm39)		probably null	Het
Sort1	T	A	3: 108,231,992 (GRCm39)	I172N	probably damaging	Het
Spink5	C	A	18: 44,122,518 (GRCm39)	H328N	probably damaging	Het
Tbl1xr1	A	G	3: 22,263,770 (GRCm39)	D504G	probably damaging	Het
Tcaf3	C	T	6: 42,573,954 (GRCm39)	C86Y	possibly damaging	Het
Tfap2e	T	C	4: 126,628,434 (GRCm39)	D174G	probably benign	Het
Tmem42	T	C	9: 122,851,232 (GRCm39)	V65A	probably damaging	Het
Vmn1r225	C	G	17: 20,723,177 (GRCm39)	T206R	probably damaging	Het
Vmn2r38	A	G	7: 9,100,571 (GRCm39)	F65S	probably benign	Het
Vmn2r87	A	T	10: 130,333,208 (GRCm39)	L14Q	probably null	Het
Xirp2	T	C	2: 67,345,711 (GRCm39)	S2651P	probably benign	Het
Zfp429	G	A	13: 67,538,959 (GRCm39)	L162F	probably damaging	Het
Zhx1	A	T	15: 57,915,819 (GRCm39)	M809K	probably damaging	Het

Other mutations in Adsl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Adsl	APN	15	80,832,901 (GRCm39)	missense	probably null	0.24
IGL02249:Adsl	APN	15	80,844,676 (GRCm39)	missense	probably benign	0.26
IGL03009:Adsl	APN	15	80,836,444 (GRCm39)	nonsense	probably null
R0046:Adsl	UTSW	15	80,846,989 (GRCm39)	critical splice donor site	probably null
R0046:Adsl	UTSW	15	80,846,989 (GRCm39)	critical splice donor site	probably null
R0194:Adsl	UTSW	15	80,845,561 (GRCm39)	missense	possibly damaging	0.91
R0575:Adsl	UTSW	15	80,847,886 (GRCm39)	missense	probably damaging	1.00
R1111:Adsl	UTSW	15	80,851,861 (GRCm39)	missense	probably damaging	1.00
R1606:Adsl	UTSW	15	80,836,425 (GRCm39)	nonsense	probably null
R1822:Adsl	UTSW	15	80,846,943 (GRCm39)	nonsense	probably null
R2152:Adsl	UTSW	15	80,851,863 (GRCm39)	missense	probably damaging	1.00
R2284:Adsl	UTSW	15	80,848,096 (GRCm39)	missense	probably damaging	0.99
R4008:Adsl	UTSW	15	80,850,357 (GRCm39)	missense	probably benign	0.05
R4010:Adsl	UTSW	15	80,850,357 (GRCm39)	missense	probably benign	0.05
R4011:Adsl	UTSW	15	80,850,357 (GRCm39)	missense	probably benign	0.05
R4202:Adsl	UTSW	15	80,836,417 (GRCm39)	missense	probably damaging	0.98
R4587:Adsl	UTSW	15	80,851,968 (GRCm39)	critical splice donor site	probably null
R5053:Adsl	UTSW	15	80,844,651 (GRCm39)	missense	probably damaging	1.00
R5086:Adsl	UTSW	15	80,847,901 (GRCm39)	missense	probably damaging	0.96
R5123:Adsl	UTSW	15	80,836,495 (GRCm39)	splice site	probably null
R5416:Adsl	UTSW	15	80,836,384 (GRCm39)	splice site	probably null
R5532:Adsl	UTSW	15	80,848,110 (GRCm39)	missense	probably damaging	1.00
R5898:Adsl	UTSW	15	80,845,554 (GRCm39)	splice site	probably null
R7401:Adsl	UTSW	15	80,846,983 (GRCm39)	missense	probably damaging	1.00
R8544:Adsl	UTSW	15	80,832,734 (GRCm39)	start gained	probably benign
R9712:Adsl	UTSW	15	80,839,840 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2016-07-06