Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Adsl'

574197

Institutional Source

Beutler Lab

Gene Symbol

Adsl

Ensembl Gene

ENSMUSG00000022407

Gene Name

adenylosuccinate lyase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80948490-80970946 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80962782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 263 (H263R)

Ref Sequence

ENSEMBL: ENSMUSP00000023043 (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: H263R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023043
Gene: ENSMUSG00000022407
AA Change: H263R

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

probably damaging
Transcript: ENSMUST00000164806
AA Change: H263R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131998
Gene: ENSMUSG00000022407
AA Change: H263R

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 damaging
Transcript: ENSMUST00000168756
AA Change: H248R

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

SMART Domains

Protein: ENSMUSP00000127593
Gene: ENSMUSG00000022407
AA Change: H248R

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 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

Predicted Effect

probably damaging
Transcript: ENSMUST00000207170
AA Change: H83R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,404	L152Q	probably benign	Het
Abcg3	A	T	5: 104,966,774	N292K	probably damaging	Het
Adamts3	T	A	5: 89,707,450		probably null	Het
Adgrg7	T	C	16: 56,742,418	N519D	probably benign	Het
Ak9	A	T	10: 41,423,004	D1567V	unknown	Het
Bscl2	T	C	19: 8,846,550	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,679,294	T873S	probably benign	Het
Cacna1c	T	C	6: 119,052,708		probably null	Het
Cast	G	T	13: 74,808,458	A18E	unknown	Het
Ccdc114	A	C	7: 45,942,765	Q323P	probably damaging	Het
Cd207	A	C	6: 83,677,848		probably benign	Het
Cd79b	A	G	11: 106,312,852	S130P	probably benign	Het
Cfap52	A	T	11: 67,949,633	N157K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chaf1b	G	T	16: 93,884,380		probably benign	Het
Cntn1	A	G	15: 92,317,989	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,461	V362I	probably benign	Het
Crem	A	G	18: 3,295,329	S80P	probably damaging	Het
Csnk1g3	C	T	18: 53,930,318	T267I	probably damaging	Het
Cyth1	A	T	11: 118,182,251	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,712,278	G594S	probably benign	Het
Enpp1	C	T	10: 24,645,282	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,465,635	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,917,559	V426L	probably benign	Het
Fes	A	G	7: 80,378,776		probably null	Het
Gm16486	T	C	8: 70,717,272	I1337T	probably benign	Het
Gmeb1	C	A	4: 132,225,774	L560F	probably damaging	Het
Hace1	T	C	10: 45,670,626	L452P	probably damaging	Het
Hecw2	T	A	1: 53,904,343	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il1r2	T	A	1: 40,123,210	C338S	probably damaging	Het
Kcnb1	T	C	2: 167,188,284	S114G	probably damaging	Het
Lce1c	A	T	3: 92,680,316	T17S	unknown	Het
Lhfpl4	C	A	6: 113,176,666	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,302,230	E988G	possibly damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Neurod1	T	A	2: 79,454,946	D31V	probably benign	Het
Neurod4	A	G	10: 130,271,058	C116R	probably damaging	Het
Nisch	A	G	14: 31,206,580	V28A	probably benign	Het
Olfr1174-ps	T	G	2: 88,311,428	M123L	probably benign	Het
Olfr1245	A	G	2: 89,575,105	V207A	probably benign	Het
Pabpc4l	A	T	3: 46,446,252	I319N	probably damaging	Het
Pabpc4l	T	A	3: 46,446,589	R207W	probably damaging	Het
Pcm1	G	A	8: 41,309,531	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452		probably benign	Het
Plxnc1	C	T	10: 94,871,005	A557T	probably benign	Het
Prkdc	T	A	16: 15,648,738	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,156,947	V259A	probably benign	Het
Psmd3	A	T	11: 98,685,640	T123S	probably benign	Het
Ptgr2	G	T	12: 84,292,329		probably benign	Het
Ptprr	A	G	10: 116,048,236	H66R	probably benign	Het
Rftn2	A	G	1: 55,194,242		probably null	Het
Rsph14	T	A	10: 75,029,796	E70V	possibly damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spag9	A	T	11: 94,097,689	T862S	probably benign	Het
Ssbp2	T	A	13: 91,690,883	D291E	probably benign	Het
Supt5	T	C	7: 28,323,772	K329E	probably damaging	Het
Syne2	G	T	12: 75,967,381	K3115N	probably damaging	Het
Tars	A	T	15: 11,392,009	L239*	probably null	Het
Tbxa2r	T	C	10: 81,332,791	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743	D265E	probably damaging	Het
Tril	T	C	6: 53,818,281	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,834,187	R204G	probably null	Het
Twnk	A	G	19: 45,011,780	D645G	probably benign	Het
Umodl1	A	T	17: 30,998,148	D1118V	probably damaging	Het
Unc119	T	C	11: 78,347,245	I83T	probably benign	Het
Unc80	T	C	1: 66,646,415	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,933,434	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,571,086	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,509,832	L123S	probably damaging	Het
Zfpm2	A	G	15: 41,102,990	E957G	possibly damaging	Het

Other mutations in Adsl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Adsl	APN	15	80948700	missense	probably null	0.24
IGL02249:Adsl	APN	15	80960475	missense	probably benign	0.26
IGL03009:Adsl	APN	15	80952243	nonsense	probably null
R0046:Adsl	UTSW	15	80962788	critical splice donor site	probably null
R0046:Adsl	UTSW	15	80962788	critical splice donor site	probably null
R0194:Adsl	UTSW	15	80961360	missense	possibly damaging	0.91
R0575:Adsl	UTSW	15	80963685	missense	probably damaging	1.00
R1111:Adsl	UTSW	15	80967660	missense	probably damaging	1.00
R1606:Adsl	UTSW	15	80952224	nonsense	probably null
R1822:Adsl	UTSW	15	80962742	nonsense	probably null
R2152:Adsl	UTSW	15	80967662	missense	probably damaging	1.00
R2284:Adsl	UTSW	15	80963895	missense	probably damaging	0.99
R4008:Adsl	UTSW	15	80966156	missense	probably benign	0.05
R4010:Adsl	UTSW	15	80966156	missense	probably benign	0.05
R4011:Adsl	UTSW	15	80966156	missense	probably benign	0.05
R4202:Adsl	UTSW	15	80952216	missense	probably damaging	0.98
R4587:Adsl	UTSW	15	80967767	critical splice donor site	probably null
R5053:Adsl	UTSW	15	80960450	missense	probably damaging	1.00
R5086:Adsl	UTSW	15	80963700	missense	probably damaging	0.96
R5123:Adsl	UTSW	15	80952294	splice site	probably null
R5187:Adsl	UTSW	15	80948905	intron	probably benign
R5416:Adsl	UTSW	15	80952183	splice site	probably null
R5532:Adsl	UTSW	15	80963909	missense	probably damaging	1.00
R5898:Adsl	UTSW	15	80961353	splice site	probably null
R8544:Adsl	UTSW	15	80948533	start gained	probably benign
R9712:Adsl	UTSW	15	80955639	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCAAGCCATTGTTTAGGATC -3'
(R):5'- GACCTACTGTGTACAGATATATGTGTG -3'

Sequencing Primer
(F):5'- AGAGAACTGCTTACCTGTGC -3'
(R):5'- CTCACTGGTTAAGAGCACTGACTG -3'

Posted On

2019-09-13