Mutagenetix > Incidental Mutation

Incidental Mutation 'R5053:Adsl'

394773

Institutional Source

Beutler Lab

Gene Symbol

Adsl

Ensembl Gene

ENSMUSG00000022407

Gene Name

adenylosuccinate lyase

Synonyms

MMRRC Submission

042643-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5053 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

80832691-80855147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80844651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 180 (C180R)

Ref Sequence

ENSEMBL: ENSMUSP00000131998 (fasta)

Gene Model

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

AlphaFold

P54822

Predicted Effect

probably damaging
Transcript: ENSMUST00000023043
AA Change: C180R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023043
Gene: ENSMUSG00000022407
AA Change: C180R

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

noncoding transcript
Transcript: ENSMUST00000164371

Predicted Effect

probably damaging
Transcript: ENSMUST00000164806
AA Change: C180R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131998
Gene: ENSMUSG00000022407
AA Change: C180R

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

unknown
Transcript: ENSMUST00000166711
AA Change: L153P

SMART Domains

Protein: ENSMUSP00000129601
Gene: ENSMUSG00000022407
AA Change: L153P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168756
AA Change: C165R

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127593
Gene: ENSMUSG00000022407
AA Change: C165R

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

unknown
Transcript: ENSMUST00000169238
AA Change: L153P

SMART Domains

Protein: ENSMUSP00000132423
Gene: ENSMUSG00000022407
AA Change: L153P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000200201
AA Change: L138P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143188
Gene: ENSMUSG00000022407
AA Change: L138P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207170

Predicted Effect

probably benign
Transcript: ENSMUST00000199284

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.9%
20x: 90.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	T	15: 101,035,250 (GRCm39)	I259F	probably damaging	Het
Adgrf2	A	G	17: 43,021,334 (GRCm39)	S497P	probably damaging	Het
Ahctf1	A	G	1: 179,614,349 (GRCm39)	I448T	possibly damaging	Het
Alg9	G	T	9: 50,699,472 (GRCm39)	G200W	probably damaging	Het
Amhr2	G	A	15: 102,355,693 (GRCm39)	V213I	probably damaging	Het
Ankrd44	A	T	1: 54,774,248 (GRCm39)	L200*	probably null	Het
As3mt	A	G	19: 46,697,493 (GRCm39)	Y87C	probably damaging	Het
Bcl11a	C	A	11: 24,114,068 (GRCm39)	F470L	probably benign	Het
Cacna2d2	A	T	9: 107,392,063 (GRCm39)	Y468F	probably damaging	Het
Cep250	A	G	2: 155,804,848 (GRCm39)	D71G	possibly damaging	Het
Clca4b	T	C	3: 144,616,882 (GRCm39)	T923A	probably benign	Het
Clec16a	T	C	16: 10,394,461 (GRCm39)	L273P	probably damaging	Het
Comtd1	T	C	14: 21,897,764 (GRCm39)	D123G	probably damaging	Het
Cpa5	A	T	6: 30,623,271 (GRCm39)	E144V	probably damaging	Het
Cyp2c37	G	A	19: 39,990,331 (GRCm39)	S343N	probably benign	Het
Dennd6a	C	A	14: 26,329,738 (GRCm39)	T103K	probably damaging	Het
Ect2l	A	G	10: 18,016,093 (GRCm39)	L733P	probably damaging	Het
Erg	T	A	16: 95,325,393 (GRCm39)	H11L	probably benign	Het
Ero1b	T	C	13: 12,614,795 (GRCm39)	L253P	probably damaging	Het
Etfbkmt	T	A	6: 149,048,766 (GRCm39)	L135*	probably null	Het
Frmd4a	A	T	2: 4,608,732 (GRCm39)	T867S	probably damaging	Het
Gm815	C	T	19: 26,863,813 (GRCm39)	A18V	unknown	Het
Gna12	C	A	5: 140,746,482 (GRCm39)	R321L	probably benign	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Irs1	A	G	1: 82,264,643 (GRCm39)	L1191P	probably benign	Het
Kcp	G	T	6: 29,496,957 (GRCm39)	Q551K	probably benign	Het
Klhl11	C	T	11: 100,363,026 (GRCm39)	V177M	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Llcfc1	A	G	6: 41,662,269 (GRCm39)	H91R	possibly damaging	Het
Lmnb2	A	T	10: 80,740,489 (GRCm39)	M223K	probably damaging	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Mme	T	A	3: 63,272,270 (GRCm39)	V623E	probably damaging	Het
Ndc1	T	C	4: 107,231,415 (GRCm39)	S119P	probably damaging	Het
Nfs1	A	C	2: 155,968,318 (GRCm39)	C383G	probably damaging	Het
Nphp4	A	G	4: 152,628,919 (GRCm39)		probably null	Het
Oca2	C	A	7: 55,973,328 (GRCm39)	Q411K	probably benign	Het
Or10ab4	A	G	7: 107,654,741 (GRCm39)	H184R	probably benign	Het
Or11h23	T	A	14: 50,947,968 (GRCm39)	Y60*	probably null	Het
Or1ad1	G	A	11: 50,876,137 (GRCm39)	G203D	probably damaging	Het
Or4c15	C	A	2: 88,760,597 (GRCm39)	V21F	probably benign	Het
Or8k25	A	G	2: 86,243,682 (GRCm39)	F238S	probably damaging	Het
Pcdh7	A	T	5: 57,878,943 (GRCm39)	T493S	probably damaging	Het
Phf20	T	C	2: 156,115,782 (GRCm39)	S368P	probably benign	Het
Pla2g2e	T	G	4: 138,607,686 (GRCm39)	V22G	possibly damaging	Het
Plxna1	A	T	6: 89,299,442 (GRCm39)	H1736Q	probably damaging	Het
Prlr	C	A	15: 10,325,471 (GRCm39)	Q215K	probably benign	Het
Prpf6	T	C	2: 181,291,246 (GRCm39)	V687A	probably benign	Het
Ptprq	T	A	10: 107,399,063 (GRCm39)	T1951S	probably damaging	Het
Sec31a	G	T	5: 100,541,073 (GRCm39)	Q345K	possibly damaging	Het
Serpina3k	T	C	12: 104,309,473 (GRCm39)		probably null	Het
Sertad3	T	A	7: 27,175,947 (GRCm39)	V127E	probably benign	Het
Sf3b1	A	T	1: 55,036,336 (GRCm39)	N912K	probably benign	Het
Shq1	A	G	6: 100,632,220 (GRCm39)	L202P	probably damaging	Het
Sp8	C	T	12: 118,813,339 (GRCm39)	T398M	probably damaging	Het
Tmem150c	A	T	5: 100,231,599 (GRCm39)	D125E	probably benign	Het
Trim3	G	T	7: 105,266,968 (GRCm39)	D470E	probably damaging	Het
Ubap1	T	A	4: 41,387,315 (GRCm39)	C88*	probably null	Het
Unc79	T	A	12: 103,071,007 (GRCm39)	D1124E	probably damaging	Het
Usf3	T	C	16: 44,037,550 (GRCm39)	S677P	probably benign	Het
Vmn1r76	T	C	7: 11,664,241 (GRCm39)		probably null	Het
Zfp819	C	T	7: 43,266,570 (GRCm39)	T275I	probably damaging	Het
Zranb2	T	A	3: 157,246,796 (GRCm39)	D161E	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
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'- ACAGCAGTGATGCCTTTACC -3'
(R):5'- GCTAGAACACAACTCACGAGTG -3'

Sequencing Primer
(F):5'- AGTGATGCCTTTACCCTTCTTGG -3'
(R):5'- ACAGGAGAGTTTACAGGATGGTTTG -3'

Posted On

2016-06-15