Incidental Mutation 'IGL01094:Adss2'
| ID |
50244 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adss2
|
| Ensembl Gene |
ENSMUSG00000015961 |
| Gene Name |
adenylosuccinate synthase 2 |
| Synonyms |
Adss, AS |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01094
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
177590742-177624275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 177612508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 80
(H80Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016105]
|
| AlphaFold |
P46664 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016105
AA Change: H80Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000016105
Gene: ENSMUSG00000015961
AA Change: H80Q
| Domain | Start | End | E-Value | Type |
|---|
|
Adenylsucc_synt
|
30 |
454 |
7e-252 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161808
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
A |
G |
10: 20,847,959 (GRCm39) |
N456D |
probably damaging |
Het |
| Alpk2 |
T |
G |
18: 65,439,673 (GRCm39) |
E573D |
probably damaging |
Het |
| Axin2 |
G |
A |
11: 108,814,501 (GRCm39) |
V130M |
probably damaging |
Het |
| Cadm4 |
T |
C |
7: 24,202,184 (GRCm39) |
L341P |
possibly damaging |
Het |
| Col20a1 |
G |
A |
2: 180,641,559 (GRCm39) |
C625Y |
probably damaging |
Het |
| Col6a3 |
T |
G |
1: 90,731,655 (GRCm39) |
I1533L |
possibly damaging |
Het |
| Dusp10 |
A |
T |
1: 183,769,697 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
A |
6: 84,171,368 (GRCm39) |
I1837N |
probably damaging |
Het |
| Fbxw19 |
A |
G |
9: 109,322,614 (GRCm39) |
S119P |
probably benign |
Het |
| Il22ra1 |
C |
A |
4: 135,478,395 (GRCm39) |
P489T |
possibly damaging |
Het |
| Il7r |
A |
T |
15: 9,508,085 (GRCm39) |
N412K |
possibly damaging |
Het |
| Kdr |
A |
T |
5: 76,122,420 (GRCm39) |
Y502N |
probably benign |
Het |
| Med12l |
T |
A |
3: 59,001,076 (GRCm39) |
L713H |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,707,771 (GRCm39) |
|
probably benign |
Het |
| Or4a70 |
A |
G |
2: 89,324,182 (GRCm39) |
V158A |
probably benign |
Het |
| Piezo1 |
T |
A |
8: 123,208,877 (GRCm39) |
E2495D |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,325 (GRCm39) |
F2611L |
probably benign |
Het |
| Pld2 |
T |
C |
11: 70,432,132 (GRCm39) |
C84R |
probably damaging |
Het |
| Prss3l |
A |
G |
6: 41,420,357 (GRCm39) |
V123A |
possibly damaging |
Het |
| Scfd2 |
G |
T |
5: 74,691,707 (GRCm39) |
P192T |
possibly damaging |
Het |
| Tm4sf19 |
A |
G |
16: 32,224,772 (GRCm39) |
N40S |
possibly damaging |
Het |
| Tmc2 |
T |
C |
2: 130,102,086 (GRCm39) |
|
probably benign |
Het |
| Tmem217 |
T |
C |
17: 29,745,566 (GRCm39) |
R55G |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,734,592 (GRCm39) |
D3205G |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,793,566 (GRCm39) |
N440D |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,055,838 (GRCm39) |
|
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,583,723 (GRCm39) |
H790Q |
probably damaging |
Het |
|
| Other mutations in Adss2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation