Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Adsl'

43736

Institutional Source

Beutler Lab

Gene Symbol

Adsl

Ensembl Gene

ENSMUSG00000022407

Gene Name

adenylosuccinate lyase

Synonyms

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0046 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

80832691-80855147 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 80846989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146546 (fasta)

Gene Model

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

AlphaFold

P54822

Predicted Effect

probably null
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: ENSMUST00000163575

Predicted Effect

probably null
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 null
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 null
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 null
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: ENSMUST00000199284

Predicted Effect

probably null
Transcript: ENSMUST00000207170

Predicted Effect

probably null
Transcript: ENSMUST00000207170

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

Meta Mutation Damage Score

0.9505

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (83/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877 (GRCm39)	K135*	probably null	Het
Adamts16	A	G	13: 70,911,579 (GRCm39)	S871P	probably benign	Het
Adcy10	A	T	1: 165,367,403 (GRCm39)	I558F	probably damaging	Het
Aldob	T	C	4: 49,543,842 (GRCm39)	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247 (GRCm39)	E46G	probably damaging	Het
Ankrd33b	G	A	15: 31,367,483 (GRCm39)	P19L	probably damaging	Het
Apoa5	T	C	9: 46,181,296 (GRCm39)	L124S	probably damaging	Het
Atp1a4	A	T	1: 172,067,664 (GRCm39)	L533Q	probably benign	Het
Atp7b	T	C	8: 22,550,011 (GRCm39)	T9A	probably benign	Het
Auh	G	A	13: 53,083,421 (GRCm39)		probably benign	Het
B3gnt3	T	C	8: 72,145,567 (GRCm39)	Y267C	probably damaging	Het
Card11	T	C	5: 140,894,279 (GRCm39)	T117A	possibly damaging	Het
Ccdc39	A	G	3: 33,898,301 (GRCm39)	F15L	possibly damaging	Het
Chtf18	C	T	17: 25,942,434 (GRCm39)	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,666,295 (GRCm39)	D1108E	probably benign	Het
Col14a1	G	A	15: 55,272,359 (GRCm39)		probably benign	Het
Col6a6	C	T	9: 105,626,047 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,251,280 (GRCm39)	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,609,256 (GRCm39)		probably benign	Het
Cpt2	A	G	4: 107,761,559 (GRCm39)		probably null	Het
Crebrf	T	A	17: 26,982,308 (GRCm39)	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,666,236 (GRCm39)		noncoding transcript	Het
Dhx9	C	T	1: 153,348,453 (GRCm39)	V291M	probably benign	Het
Dmxl1	T	A	18: 50,011,149 (GRCm39)	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,496,033 (GRCm39)		probably null	Het
Dock4	G	A	12: 40,787,359 (GRCm39)		probably benign	Het
Dpp3	G	T	19: 4,964,671 (GRCm39)	N545K	probably damaging	Het
Elmo2	T	A	2: 165,140,646 (GRCm39)	N275I	probably damaging	Het
Farp1	A	G	14: 121,492,925 (GRCm39)	K509R	probably benign	Het
Fat3	T	C	9: 15,877,275 (GRCm39)	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,593,964 (GRCm39)		probably benign	Het
Flg	T	A	3: 93,185,028 (GRCm39)		probably benign	Het
Gas2l2	A	T	11: 83,312,736 (GRCm39)	W859R	probably damaging	Het
Gatm	T	C	2: 122,431,225 (GRCm39)	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998 (GRCm39)	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,699,604 (GRCm39)		probably benign	Het
Haus5	C	T	7: 30,353,605 (GRCm39)	V591I	probably benign	Het
Kcnab3	G	A	11: 69,221,053 (GRCm39)		probably null	Het
Khdrbs2	A	G	1: 32,658,283 (GRCm39)	D281G	possibly damaging	Het
Krt86	A	T	15: 101,375,283 (GRCm39)	M393L	probably benign	Het
Limk1	T	C	5: 134,701,615 (GRCm39)	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,466,192 (GRCm39)	Y100*	probably null	Het
Mamstr	T	G	7: 45,291,194 (GRCm39)		probably benign	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Marf1	G	A	16: 13,929,591 (GRCm39)	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,686,817 (GRCm39)	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,401,417 (GRCm39)	N881I	probably damaging	Het
Nox3	T	C	17: 3,733,236 (GRCm39)	Y225C	probably benign	Het
Nrp1	C	T	8: 129,227,089 (GRCm39)		probably benign	Het
Or11g26	T	A	14: 50,753,596 (GRCm39)	*312K	probably null	Het
Or4c109	C	T	2: 88,817,693 (GRCm39)	M284I	probably benign	Het
Or4c35	C	T	2: 89,808,851 (GRCm39)	T243I	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or8k33	A	G	2: 86,383,976 (GRCm39)	F164S	probably damaging	Het
Pcdhb13	A	T	18: 37,577,310 (GRCm39)	M563L	probably benign	Het
Pclo	C	T	5: 14,590,493 (GRCm39)	T931M	unknown	Het
Peli2	C	T	14: 48,358,659 (GRCm39)	P16S	possibly damaging	Het
Pfas	G	T	11: 68,881,293 (GRCm39)	R1025S	probably benign	Het
Pik3c2a	A	T	7: 115,953,307 (GRCm39)	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 110,262,617 (GRCm39)		probably benign	Het
Prg4	T	C	1: 150,331,837 (GRCm39)	T279A	possibly damaging	Het
Psma1	A	T	7: 113,866,440 (GRCm39)		probably benign	Het
Rab11fip1	A	G	8: 27,643,149 (GRCm39)	L550P	probably damaging	Het
Rgs12	T	A	5: 35,122,664 (GRCm39)	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,376,215 (GRCm39)	H195R	probably damaging	Het
Rnf17	T	C	14: 56,708,830 (GRCm39)	L750P	probably damaging	Het
Rtcb	T	C	10: 85,793,520 (GRCm39)	N18D	probably benign	Het
Seh1l	T	C	18: 67,925,086 (GRCm39)		probably null	Het
Sis	T	G	3: 72,839,427 (GRCm39)	N813T	probably benign	Het
Sptbn2	T	C	19: 4,795,405 (GRCm39)		probably benign	Het
Stag3	C	T	5: 138,281,285 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Taok3	C	T	5: 117,410,294 (GRCm39)	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tsbp1	T	C	17: 34,679,095 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,781,886 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,091,940 (GRCm39)	E1756G	probably damaging	Het
Usp35	A	T	7: 96,962,804 (GRCm39)		probably null	Het
Vmn2r111	A	G	17: 22,766,990 (GRCm39)	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,451,146 (GRCm39)	D344G	possibly damaging	Het
Zbtb40	A	G	4: 136,714,589 (GRCm39)	C1067R	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
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
R5187:Adsl	UTSW	15	80,833,106 (GRCm39)	intron	probably benign
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

PCR Primer
(F):5'- GACCAGAGCAGCTTGGGAAACA -3'
(R):5'- GGCTAAGATTCTGACTTGAGGGGAGTG -3'

Sequencing Primer
(F):5'- gccttagacagagaactgcttac -3'
(R):5'- tgggaggcagaggcagg -3'

Posted On

2013-05-29