Incidental Mutation 'R3888:Adss2'
ID |
312845 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adss2
|
Ensembl Gene |
ENSMUSG00000015961 |
Gene Name |
adenylosuccinate synthase 2 |
Synonyms |
Adss, AS |
MMRRC Submission |
040800-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3888 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
177590742-177624275 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 177595335 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 402
(Y402H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016105
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016105]
|
AlphaFold |
P46664 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000016105
AA Change: Y402H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000016105 Gene: ENSMUSG00000015961 AA Change: Y402H
Domain | Start | End | E-Value | Type |
Adenylsucc_synt
|
30 |
454 |
7e-252 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159184
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
Acbd6 |
A |
G |
1: 155,500,643 (GRCm39) |
D201G |
probably damaging |
Het |
Adam17 |
G |
A |
12: 21,375,588 (GRCm39) |
R744C |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,715,345 (GRCm39) |
K31I |
probably damaging |
Het |
B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
Cmya5 |
T |
G |
13: 93,230,164 (GRCm39) |
R1641S |
probably benign |
Het |
Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
Etl4 |
C |
T |
2: 20,534,772 (GRCm39) |
Q76* |
probably null |
Het |
Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
Frem1 |
T |
C |
4: 82,831,844 (GRCm39) |
R1991G |
probably benign |
Het |
Gimap7 |
G |
A |
6: 48,700,779 (GRCm39) |
E122K |
probably benign |
Het |
Hps3 |
A |
G |
3: 20,057,387 (GRCm39) |
|
probably null |
Het |
Kctd2 |
A |
T |
11: 115,318,345 (GRCm39) |
K209N |
probably damaging |
Het |
Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
Muc5ac |
T |
C |
7: 141,344,961 (GRCm39) |
V144A |
possibly damaging |
Het |
Mypn |
T |
C |
10: 63,028,289 (GRCm39) |
Y258C |
probably damaging |
Het |
Ntf3 |
T |
C |
6: 126,079,405 (GRCm39) |
M21V |
probably benign |
Het |
Or4a71 |
T |
A |
2: 89,358,076 (GRCm39) |
H226L |
possibly damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,497 (GRCm39) |
C216S |
probably benign |
Het |
Or6c1 |
A |
T |
10: 129,518,088 (GRCm39) |
D173E |
probably benign |
Het |
Or6c1 |
G |
A |
10: 129,518,087 (GRCm39) |
H174Y |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rbm45 |
A |
G |
2: 76,205,768 (GRCm39) |
S207G |
probably benign |
Het |
Robo3 |
G |
A |
9: 37,333,477 (GRCm39) |
Q723* |
probably null |
Het |
Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
Slc12a6 |
T |
A |
2: 112,097,375 (GRCm39) |
L70Q |
possibly damaging |
Het |
Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
Slitrk5 |
T |
A |
14: 111,917,229 (GRCm39) |
C284* |
probably null |
Het |
Smim17 |
G |
T |
7: 6,432,279 (GRCm39) |
G74C |
probably damaging |
Het |
Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
Suv39h2 |
G |
A |
2: 3,465,845 (GRCm39) |
T170I |
probably benign |
Het |
Thrb |
A |
G |
14: 18,033,551 (GRCm38) |
K424R |
probably damaging |
Het |
Tm4sf4 |
C |
T |
3: 57,345,166 (GRCm39) |
Q191* |
probably null |
Het |
Trak1 |
G |
T |
9: 121,271,863 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,540,618 (GRCm39) |
S25796P |
probably damaging |
Het |
Ugp2 |
T |
C |
11: 21,303,366 (GRCm39) |
R80G |
probably benign |
Het |
Utp15 |
C |
T |
13: 98,395,674 (GRCm39) |
V103I |
probably benign |
Het |
Wdr3 |
A |
T |
3: 100,061,222 (GRCm39) |
S249T |
probably benign |
Het |
Zeb1 |
T |
A |
18: 5,748,743 (GRCm39) |
D86E |
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 |
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'- GACAAGAGTCAACATCCCAGGG -3'
(R):5'- TTATGACACAAGTCTGGTTTTGAGG -3'
Sequencing Primer
(F):5'- GAGTCAACATCCCAGGGAAATC -3'
(R):5'- ATCCCAGGATTTGCATAGGC -3'
|
Posted On |
2015-04-30 |