Incidental Mutation 'R4288:Adss2'
ID |
322086 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adss2
|
Ensembl Gene |
ENSMUSG00000015961 |
Gene Name |
adenylosuccinate synthase 2 |
Synonyms |
Adss, AS |
MMRRC Submission |
041653-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4288 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
177590742-177624275 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 177604078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 176
(R176W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016105
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016105]
|
AlphaFold |
P46664 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000016105
AA Change: R176W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000016105 Gene: ENSMUSG00000015961 AA Change: R176W
Domain | Start | End | E-Value | Type |
Adenylsucc_synt
|
30 |
454 |
7e-252 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161808
|
Meta Mutation Damage Score |
0.9630 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
97% (34/35) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
G |
A |
1: 127,666,309 (GRCm39) |
V27M |
probably damaging |
Het |
Acsl6 |
A |
G |
11: 54,227,912 (GRCm39) |
T311A |
probably benign |
Het |
Akr7a5 |
T |
C |
4: 139,041,415 (GRCm39) |
V108A |
probably benign |
Het |
Atp13a1 |
A |
G |
8: 70,246,728 (GRCm39) |
D209G |
possibly damaging |
Het |
Bpnt2 |
A |
C |
4: 4,778,231 (GRCm39) |
V169G |
probably damaging |
Het |
Cdcp1 |
T |
A |
9: 123,012,693 (GRCm39) |
I285F |
probably damaging |
Het |
Ctnna2 |
C |
T |
6: 77,582,204 (GRCm39) |
R339Q |
probably damaging |
Het |
E130308A19Rik |
G |
A |
4: 59,690,308 (GRCm39) |
M47I |
probably benign |
Het |
Exosc9 |
C |
T |
3: 36,617,365 (GRCm39) |
T373I |
probably benign |
Het |
Fat4 |
T |
A |
3: 38,945,912 (GRCm39) |
S1602T |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,168,411 (GRCm39) |
I2309V |
probably damaging |
Het |
Fbxo42 |
T |
C |
4: 140,895,207 (GRCm39) |
Y57H |
probably damaging |
Het |
Fcrl5 |
A |
G |
3: 87,349,531 (GRCm39) |
D102G |
probably benign |
Het |
Garin5b |
T |
A |
7: 4,773,722 (GRCm39) |
N58Y |
possibly damaging |
Het |
Gpr37l1 |
A |
G |
1: 135,088,922 (GRCm39) |
V381A |
probably damaging |
Het |
Hc |
G |
T |
2: 34,920,414 (GRCm39) |
A644E |
probably damaging |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Lpar5 |
T |
C |
6: 125,058,827 (GRCm39) |
Y183H |
probably benign |
Het |
Ltn1 |
T |
A |
16: 87,194,876 (GRCm39) |
N1341I |
possibly damaging |
Het |
Mms19 |
A |
G |
19: 41,933,992 (GRCm39) |
L938P |
probably damaging |
Het |
Neb |
T |
G |
2: 52,149,312 (GRCm39) |
E2516D |
probably damaging |
Het |
Parp4 |
T |
C |
14: 56,844,951 (GRCm39) |
V614A |
probably damaging |
Het |
Pogk |
A |
G |
1: 166,231,075 (GRCm39) |
L84P |
probably damaging |
Het |
Stard13 |
G |
A |
5: 150,968,642 (GRCm39) |
T994M |
probably damaging |
Het |
Stk4 |
A |
G |
2: 163,941,632 (GRCm39) |
S283G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,640,742 (GRCm39) |
T13669A |
probably benign |
Het |
Vil1 |
A |
G |
1: 74,457,684 (GRCm39) |
T106A |
probably benign |
Het |
Vmn1r18 |
A |
G |
6: 57,367,392 (GRCm39) |
L54P |
probably damaging |
Het |
Vmn1r227 |
G |
T |
17: 20,956,092 (GRCm39) |
|
noncoding transcript |
Het |
Zfp267 |
A |
G |
3: 36,213,747 (GRCm39) |
N27S |
possibly damaging |
Het |
Zfp748 |
T |
A |
13: 67,689,202 (GRCm39) |
H686L |
probably damaging |
Het |
Zyg11a |
C |
T |
4: 108,041,666 (GRCm39) |
S658N |
probably damaging |
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 |
|
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 |
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'- AACCAGTTCATATGCCAGTCC -3'
(R):5'- CAAATAAGCTTACAGGAACTTGCAC -3'
Sequencing Primer
(F):5'- CAAACAGTATGGTTGGCTCTGTCC -3'
(R):5'- GCTTACAGGAACTTGCACAAATAG -3'
|
Posted On |
2015-06-20 |