Incidental Mutation 'R2867:Adss2'
ID |
266377 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adss2
|
Ensembl Gene |
ENSMUSG00000015961 |
Gene Name |
adenylosuccinate synthase 2 |
Synonyms |
Adss, AS |
MMRRC Submission |
040456-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2867 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
177590742-177624275 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 177595378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016105
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016105]
|
AlphaFold |
P46664 |
Predicted Effect |
probably null
Transcript: ENSMUST00000016105
|
SMART Domains |
Protein: ENSMUSP00000016105 Gene: ENSMUSG00000015961
Domain | Start | End | E-Value | Type |
Adenylsucc_synt
|
30 |
454 |
7e-252 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159184
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (30/31) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid3c |
T |
C |
4: 41,725,958 (GRCm39) |
D215G |
probably damaging |
Het |
Birc2 |
A |
C |
9: 7,834,478 (GRCm39) |
M1R |
probably null |
Het |
Caprin2 |
G |
A |
6: 148,747,738 (GRCm39) |
|
silent |
Het |
Cog4 |
C |
A |
8: 111,593,291 (GRCm39) |
|
probably benign |
Het |
Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
Ctnna2 |
T |
C |
6: 77,091,905 (GRCm39) |
|
probably benign |
Het |
Cyp7a1 |
T |
C |
4: 6,272,493 (GRCm39) |
E240G |
probably damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,310,257 (GRCm39) |
L337* |
probably null |
Het |
Efhc2 |
A |
T |
X: 17,027,484 (GRCm39) |
|
probably benign |
Homo |
Epha6 |
T |
C |
16: 59,780,659 (GRCm39) |
|
probably null |
Het |
Evc |
T |
A |
5: 37,473,619 (GRCm39) |
|
probably benign |
Het |
Fbf1 |
A |
G |
11: 116,052,274 (GRCm39) |
|
probably benign |
Het |
Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
Gtf3c4 |
A |
G |
2: 28,729,916 (GRCm39) |
|
probably benign |
Het |
Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
Kif20b |
A |
G |
19: 34,917,528 (GRCm39) |
E631G |
probably damaging |
Het |
Lctl |
T |
C |
9: 64,045,150 (GRCm39) |
S550P |
probably benign |
Het |
Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
Mgst2 |
A |
G |
3: 51,571,954 (GRCm39) |
|
silent |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
N4bp1 |
T |
C |
8: 87,588,033 (GRCm39) |
N302D |
probably benign |
Het |
Pcdh7 |
A |
T |
5: 57,879,236 (GRCm39) |
K930N |
probably damaging |
Het |
Pramel16 |
T |
A |
4: 143,675,456 (GRCm39) |
I457L |
probably benign |
Het |
Proca1 |
A |
T |
11: 78,095,806 (GRCm39) |
N146I |
probably damaging |
Het |
RP23-211L5.9 |
T |
C |
6: 68,872,634 (GRCm39) |
|
probably null |
Het |
Ryr2 |
A |
T |
13: 11,776,235 (GRCm39) |
W1101R |
probably damaging |
Het |
Slc35d3 |
T |
C |
10: 19,725,209 (GRCm39) |
T216A |
probably benign |
Het |
Terb1 |
C |
T |
8: 105,174,485 (GRCm39) |
|
probably benign |
Het |
Thnsl2 |
C |
A |
6: 71,108,945 (GRCm39) |
D289Y |
probably damaging |
Het |
Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
Tradd |
G |
T |
8: 105,986,145 (GRCm39) |
F182L |
probably benign |
Het |
Trav17 |
A |
T |
14: 54,044,383 (GRCm39) |
Y50F |
probably benign |
Het |
Usp37 |
A |
T |
1: 74,489,691 (GRCm39) |
D808E |
probably damaging |
Het |
Usp42 |
G |
A |
5: 143,701,219 (GRCm39) |
P935S |
possibly damaging |
Het |
Vmn2r23 |
A |
G |
6: 123,690,123 (GRCm39) |
D333G |
possibly damaging |
Het |
Zfpm2 |
C |
T |
15: 40,962,785 (GRCm39) |
A149V |
probably benign |
Het |
|
Other mutations in Adss2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01094:Adss2
|
APN |
1 |
177,612,508 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01770:Adss2
|
APN |
1 |
177,604,075 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02511:Adss2
|
APN |
1 |
177,598,700 (GRCm39) |
splice site |
probably benign |
|
kahl
|
UTSW |
1 |
177,623,954 (GRCm39) |
missense |
probably benign |
|
maiden
|
UTSW |
1 |
177,597,526 (GRCm39) |
missense |
probably damaging |
1.00 |
Targarian
|
UTSW |
1 |
177,604,395 (GRCm39) |
missense |
probably benign |
0.00 |
R0087:Adss2
|
UTSW |
1 |
177,598,788 (GRCm39) |
missense |
probably benign |
0.05 |
R0607:Adss2
|
UTSW |
1 |
177,595,253 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1496:Adss2
|
UTSW |
1 |
177,599,760 (GRCm39) |
missense |
probably benign |
0.13 |
R1888:Adss2
|
UTSW |
1 |
177,612,517 (GRCm39) |
nonsense |
probably null |
|
R1888:Adss2
|
UTSW |
1 |
177,612,517 (GRCm39) |
nonsense |
probably null |
|
R1958:Adss2
|
UTSW |
1 |
177,597,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R2867:Adss2
|
UTSW |
1 |
177,595,378 (GRCm39) |
splice site |
probably null |
|
R3886:Adss2
|
UTSW |
1 |
177,595,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R3888:Adss2
|
UTSW |
1 |
177,595,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R4288:Adss2
|
UTSW |
1 |
177,604,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R5373:Adss2
|
UTSW |
1 |
177,623,954 (GRCm39) |
missense |
probably benign |
|
R5374:Adss2
|
UTSW |
1 |
177,623,954 (GRCm39) |
missense |
probably benign |
|
R5729:Adss2
|
UTSW |
1 |
177,623,824 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6244:Adss2
|
UTSW |
1 |
177,604,395 (GRCm39) |
missense |
probably benign |
0.00 |
R6314:Adss2
|
UTSW |
1 |
177,595,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R6777:Adss2
|
UTSW |
1 |
177,603,902 (GRCm39) |
splice site |
probably null |
|
R7314:Adss2
|
UTSW |
1 |
177,595,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R7577:Adss2
|
UTSW |
1 |
177,595,263 (GRCm39) |
nonsense |
probably null |
|
R7748:Adss2
|
UTSW |
1 |
177,599,768 (GRCm39) |
nonsense |
probably null |
|
R7764:Adss2
|
UTSW |
1 |
177,591,827 (GRCm39) |
missense |
probably damaging |
0.98 |
R8171:Adss2
|
UTSW |
1 |
177,623,917 (GRCm39) |
missense |
probably benign |
0.00 |
R8885:Adss2
|
UTSW |
1 |
177,597,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R8984:Adss2
|
UTSW |
1 |
177,601,280 (GRCm39) |
splice site |
probably benign |
|
R9344:Adss2
|
UTSW |
1 |
177,597,527 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Adss2
|
UTSW |
1 |
177,624,064 (GRCm39) |
start gained |
probably benign |
|
Z1176:Adss2
|
UTSW |
1 |
177,604,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGCTCATAAAGTGTTTACCTGG -3'
(R):5'- TATGACACAAGTCTGGTTTTGAGG -3'
Sequencing Primer
(F):5'- GTTTACCTGGTATTTGAAGCTCATC -3'
(R):5'- GAACTGGCCATAATGGTTCATG -3'
|
Posted On |
2015-02-18 |