Mutagenetix > Incidental Mutation

Incidental Mutation 'R5086:Adsl'

387469

Institutional Source

Beutler Lab

Gene Symbol

Adsl

Ensembl Gene

ENSMUSG00000022407

Gene Name

adenylosuccinate lyase

Synonyms

MMRRC Submission

042675-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80832691-80855147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80847901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 278 (M278K)

Ref Sequence

ENSEMBL: ENSMUSP00000131998 (fasta)

Gene Model

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

AlphaFold

P54822

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023043
AA Change: M278K

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023043
Gene: ENSMUSG00000022407
AA Change: M278K

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 damaging
Transcript: ENSMUST00000164806
AA Change: M278K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131998
Gene: ENSMUSG00000022407
AA Change: M278K

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
AA Change: M263K

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000127593
Gene: ENSMUSG00000022407
AA Change: M263K

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

possibly damaging
Transcript: ENSMUST00000207170
AA Change: M98K

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

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

0.8219

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.3%

Validation Efficiency

99% (80/81)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	T	C	4: 126,347,397 (GRCm39)	I147V	probably benign	Het
Ank1	T	C	8: 23,578,634 (GRCm39)	L261P	probably damaging	Het
Ank2	T	C	3: 126,740,997 (GRCm39)		probably benign	Het
Ap1b1	T	C	11: 4,968,020 (GRCm39)	V177A	possibly damaging	Het
Arhgap21	A	G	2: 20,853,645 (GRCm39)	S1906P	probably benign	Het
Asb1	A	G	1: 91,482,533 (GRCm39)	Y214C	probably benign	Het
BC049715	C	T	6: 136,817,429 (GRCm39)	T223M	probably damaging	Het
C1ra	T	A	6: 124,496,688 (GRCm39)	C375S	probably damaging	Het
Cdh26	C	T	2: 178,083,210 (GRCm39)	R26*	probably null	Het
Chordc1	A	G	9: 18,224,131 (GRCm39)	M304V	probably benign	Het
Cpne8	T	C	15: 90,532,771 (GRCm39)		probably benign	Het
Cracd	A	G	5: 77,004,971 (GRCm39)	E444G	unknown	Het
Csf1	T	C	3: 107,656,026 (GRCm39)	E335G	possibly damaging	Het
Ctnnd2	C	T	15: 30,683,493 (GRCm39)	P498L	possibly damaging	Het
Cyp4f18	C	T	8: 72,756,276 (GRCm39)	R100H	probably benign	Het
Dnaaf2	G	A	12: 69,244,060 (GRCm39)	R334C	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dock10	A	G	1: 80,529,189 (GRCm39)	S1071P	possibly damaging	Het
Dtnb	T	C	12: 3,682,942 (GRCm39)	V7A	probably benign	Het
Eif1	T	C	11: 100,211,552 (GRCm39)	I62T	probably damaging	Het
Fbxo44	T	A	4: 148,240,669 (GRCm39)	T145S	probably benign	Het
G530012D18Rik	G	C	1: 85,504,941 (GRCm39)		probably benign	Het
Gabbr2	A	T	4: 46,724,342 (GRCm39)	M17K	probably damaging	Het
Gm5860	T	A	4: 81,984,173 (GRCm39)		noncoding transcript	Het
Gm7964	T	A	7: 83,406,560 (GRCm39)	F439Y	possibly damaging	Het
Gpbp1l1	C	A	4: 116,445,789 (GRCm39)	T297N	probably benign	Het
Greb1	C	T	12: 16,758,023 (GRCm39)		probably benign	Het
Gvin3	A	T	7: 106,197,234 (GRCm39)		noncoding transcript	Het
Hkdc1	T	C	10: 62,231,053 (GRCm39)		probably benign	Het
Ighv16-1	T	A	12: 114,032,510 (GRCm39)	L97F	probably benign	Het
Il21r	A	G	7: 125,232,027 (GRCm39)	D485G	probably damaging	Het
Inpp5d	A	G	1: 87,633,686 (GRCm39)	H441R	probably damaging	Het
Iqgap2	G	T	13: 95,772,088 (GRCm39)	R1364S	probably benign	Het
Krtap20-2	G	T	16: 89,002,806 (GRCm39)	C2F	unknown	Het
Man2c1	T	A	9: 57,038,924 (GRCm39)	D111E	probably damaging	Het
Map1a	G	A	2: 121,134,985 (GRCm39)	E1696K	probably damaging	Het
Mdc1	T	A	17: 36,159,522 (GRCm39)	V634E	probably benign	Het
Mgam2-ps	A	G	6: 40,800,547 (GRCm39)		noncoding transcript	Het
Mllt3	T	A	4: 87,707,535 (GRCm39)	N68Y	probably damaging	Het
Mrps18a	T	A	17: 46,436,621 (GRCm39)	D143E	probably benign	Het
Myl12a	T	C	17: 71,301,611 (GRCm39)	D172G	possibly damaging	Het
Notch3	T	C	17: 32,362,308 (GRCm39)	N1439S	probably benign	Het
Npepps	T	C	11: 97,108,625 (GRCm39)	M764V	probably benign	Het
Or8d2b	T	C	9: 38,789,087 (GRCm39)	L205P	probably damaging	Het
Paxbp1	A	T	16: 90,812,104 (GRCm39)		probably benign	Het
Pcdhb7	A	T	18: 37,476,162 (GRCm39)	T433S	possibly damaging	Het
Pcdhb8	A	T	18: 37,489,159 (GRCm39)	Y279F	probably damaging	Het
Pim3	T	C	15: 88,748,606 (GRCm39)	L235P	probably damaging	Het
Plekha4	C	T	7: 45,203,082 (GRCm39)	S685F	possibly damaging	Het
Plekhg1	C	A	10: 3,853,649 (GRCm39)	H167Q	probably damaging	Het
Plekhn1	G	C	4: 156,306,881 (GRCm39)	P503A	probably benign	Het
Sar1a	T	C	10: 61,527,125 (GRCm39)	L181P	probably damaging	Het
Sec22a	G	T	16: 35,168,112 (GRCm39)	S133*	probably null	Het
Sipa1l3	G	A	7: 29,048,000 (GRCm39)	S247F	probably damaging	Het
Slc31a1	T	C	4: 62,306,190 (GRCm39)	S103P	probably damaging	Het
Spag6	A	C	2: 18,747,688 (GRCm39)		probably benign	Het
Stab1	T	A	14: 30,865,581 (GRCm39)	D1769V	probably damaging	Het
Stab1	G	A	14: 30,881,261 (GRCm39)	L590F	probably damaging	Het
Syde2	CAGTT	CAGTTAGTT	3: 145,707,163 (GRCm39)		probably null	Het
Tbc1d2b	A	G	9: 90,109,510 (GRCm39)	L322P	probably benign	Het
Tdrp	T	C	8: 14,024,590 (GRCm39)	E18G	possibly damaging	Het
Tlr3	T	A	8: 45,855,862 (GRCm39)	N106I	probably damaging	Het
Tmem104	T	A	11: 115,092,227 (GRCm39)	I112N	probably damaging	Het
Tmem14c	C	T	13: 41,174,598 (GRCm39)	T69I	probably benign	Het
Tmprss11g	G	A	5: 86,644,377 (GRCm39)	P156S	possibly damaging	Het
Ttn	A	T	2: 76,700,947 (GRCm39)		probably benign	Het
Vmn1r45	A	T	6: 89,910,082 (GRCm39)	I296N	probably benign	Het
Vmn2r1	T	A	3: 63,997,418 (GRCm39)	V358D	probably benign	Het
Zc3h7b	T	C	15: 81,677,375 (GRCm39)	L892P	probably damaging	Het
Zfp366	A	G	13: 99,365,451 (GRCm39)	Q204R	probably benign	Het
Zfp598	C	A	17: 24,899,872 (GRCm39)		probably benign	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
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'- AGAAACTCCAGGAACTCCTAGG -3'
(R):5'- ATGGTAAGGGCCATCAGGTG -3'

Sequencing Primer
(F):5'- TCCAGGAACTCCTAGGTGGGAAG -3'
(R):5'- TTGTACGGCATCGCACTG -3'

Posted On

2016-06-06