Incidental Mutation 'IGL03009:Adsl'
ID |
407704 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adsl
|
Ensembl Gene |
ENSMUSG00000022407 |
Gene Name |
adenylosuccinate lyase |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03009
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
80832691-80855147 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 80836444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 67
(S67*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143188
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023043]
[ENSMUST00000164806]
[ENSMUST00000166711]
[ENSMUST00000168756]
[ENSMUST00000169238]
[ENSMUST00000200201]
[ENSMUST00000170354]
[ENSMUST00000207170]
|
AlphaFold |
P54822 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023043
AA Change: S67*
|
SMART Domains |
Protein: ENSMUSP00000023043 Gene: ENSMUSG00000022407 AA Change: S67*
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 null
Transcript: ENSMUST00000164806
AA Change: S67*
|
SMART Domains |
Protein: ENSMUSP00000131998 Gene: ENSMUSG00000022407 AA Change: S67*
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: ENSMUST00000166711
AA Change: S67*
|
SMART Domains |
Protein: ENSMUSP00000129601 Gene: ENSMUSG00000022407 AA Change: S67*
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
AA Change: S67*
|
SMART Domains |
Protein: ENSMUSP00000127593 Gene: ENSMUSG00000022407 AA Change: S67*
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: ENSMUST00000169238
AA Change: S67*
|
SMART Domains |
Protein: ENSMUSP00000132423 Gene: ENSMUSG00000022407 AA Change: S67*
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: ENSMUST00000200201
AA Change: S67*
|
SMART Domains |
Protein: ENSMUSP00000143188 Gene: ENSMUSG00000022407 AA Change: S67*
Domain | Start | End | E-Value | Type |
PDB:2VD6|D
|
1 |
119 |
6e-77 |
PDB |
SCOP:d1c3ca_
|
20 |
119 |
4e-21 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000170354
AA Change: S17*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207170
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170777
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198302
|
Coding Region Coverage |
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arrdc4 |
A |
G |
7: 68,389,241 (GRCm39) |
V411A |
probably damaging |
Het |
Cnnm2 |
A |
G |
19: 46,865,794 (GRCm39) |
Y794C |
probably damaging |
Het |
Flt4 |
G |
T |
11: 49,517,951 (GRCm39) |
K330N |
probably benign |
Het |
Foxs1 |
T |
C |
2: 152,774,849 (GRCm39) |
H68R |
probably damaging |
Het |
Gm21969 |
C |
T |
4: 139,334,965 (GRCm39) |
S333L |
probably damaging |
Het |
Gm7008 |
T |
A |
12: 40,273,546 (GRCm39) |
|
probably benign |
Het |
Gmppa |
A |
G |
1: 75,416,014 (GRCm39) |
Y137C |
probably damaging |
Het |
Grwd1 |
A |
G |
7: 45,476,561 (GRCm39) |
|
probably benign |
Het |
Kdm5a |
C |
T |
6: 120,407,047 (GRCm39) |
R1421W |
probably damaging |
Het |
Myo5b |
A |
G |
18: 74,894,039 (GRCm39) |
T1749A |
possibly damaging |
Het |
Neb |
A |
G |
2: 52,069,468 (GRCm39) |
|
probably benign |
Het |
Ntng1 |
T |
C |
3: 109,842,018 (GRCm39) |
K252E |
possibly damaging |
Het |
Nup133 |
A |
G |
8: 124,660,239 (GRCm39) |
I353T |
possibly damaging |
Het |
Or51ab3 |
C |
A |
7: 103,201,734 (GRCm39) |
C247* |
probably null |
Het |
Osbpl11 |
T |
C |
16: 33,062,100 (GRCm39) |
|
probably benign |
Het |
Pcsk9 |
C |
T |
4: 106,311,542 (GRCm39) |
G230S |
probably damaging |
Het |
Polr1b |
A |
G |
2: 128,967,988 (GRCm39) |
N1127S |
probably damaging |
Het |
Rasgrf1 |
A |
T |
9: 89,873,756 (GRCm39) |
K688N |
possibly damaging |
Het |
Rhot1 |
A |
G |
11: 80,111,080 (GRCm39) |
|
probably null |
Het |
Rims2 |
A |
T |
15: 39,430,393 (GRCm39) |
Q1159L |
possibly damaging |
Het |
Ros1 |
T |
C |
10: 52,022,003 (GRCm39) |
I594V |
probably benign |
Het |
Slc43a2 |
G |
A |
11: 75,463,202 (GRCm39) |
C536Y |
probably benign |
Het |
Stip1 |
A |
T |
19: 6,998,489 (GRCm39) |
V537E |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Vav1 |
A |
T |
17: 57,603,582 (GRCm39) |
T94S |
probably benign |
Het |
Zfr |
A |
T |
15: 12,162,321 (GRCm39) |
I824F |
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 |
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 |
|
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 |
|
Posted On |
2016-08-02 |