Incidental Mutation 'R3886:Adss2'
| ID |
309630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adss2
|
| Ensembl Gene |
ENSMUSG00000015961 |
| Gene Name |
adenylosuccinate synthase 2 |
| Synonyms |
Adss, AS |
| MMRRC Submission |
040798-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3886 (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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
| Adam17 |
G |
A |
12: 21,375,588 (GRCm39) |
R744C |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,821,688 (GRCm39) |
T546S |
possibly damaging |
Het |
| Cd22 |
T |
C |
7: 30,569,532 (GRCm39) |
D354G |
possibly damaging |
Het |
| Chchd6 |
T |
C |
6: 89,444,433 (GRCm39) |
E183G |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,808,129 (GRCm39) |
L973P |
unknown |
Het |
| Cp |
T |
C |
3: 20,043,275 (GRCm39) |
L1021P |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,201,289 (GRCm39) |
V22E |
probably damaging |
Het |
| Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,119,633 (GRCm39) |
V1703A |
possibly damaging |
Het |
| Dennd1a |
T |
C |
2: 37,748,089 (GRCm39) |
N376S |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
| Ect2l |
C |
T |
10: 18,044,206 (GRCm39) |
V310M |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
| Gm8674 |
T |
C |
13: 50,056,199 (GRCm39) |
|
noncoding transcript |
Het |
| Ice1 |
T |
C |
13: 70,753,489 (GRCm39) |
T866A |
probably benign |
Het |
| Jade2 |
C |
T |
11: 51,721,326 (GRCm39) |
V201I |
possibly damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,780,639 (GRCm39) |
S504P |
probably damaging |
Het |
| Kcng4 |
T |
C |
8: 120,359,986 (GRCm39) |
K130R |
probably benign |
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 |
| Lrch2 |
C |
G |
X: 146,256,003 (GRCm39) |
A437P |
probably damaging |
Het |
| Lrrk1 |
C |
T |
7: 65,942,112 (GRCm39) |
V709I |
probably damaging |
Het |
| Mdh1 |
A |
G |
11: 21,509,832 (GRCm39) |
V181A |
probably damaging |
Het |
| Or10g7 |
A |
G |
9: 39,905,835 (GRCm39) |
H243R |
probably damaging |
Het |
| Or4a71 |
T |
A |
2: 89,358,076 (GRCm39) |
H226L |
possibly damaging |
Het |
| Ppp1r3a |
A |
C |
6: 14,719,911 (GRCm39) |
D334E |
possibly damaging |
Het |
| Pramel17 |
T |
C |
4: 101,692,920 (GRCm39) |
K360R |
probably benign |
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 |
| Relch |
A |
G |
1: 105,619,938 (GRCm39) |
N331S |
probably benign |
Het |
| Robo3 |
G |
A |
9: 37,333,477 (GRCm39) |
Q723* |
probably null |
Het |
| Rreb1 |
G |
A |
13: 38,082,482 (GRCm39) |
|
probably null |
Het |
| Slc35f2 |
T |
A |
9: 53,724,241 (GRCm39) |
S372T |
probably benign |
Het |
| Slitrk5 |
T |
A |
14: 111,917,229 (GRCm39) |
C284* |
probably null |
Het |
| Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
| Tent4b |
C |
A |
8: 88,927,043 (GRCm39) |
A151E |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,937,885 (GRCm39) |
D3896G |
probably damaging |
Het |
| Tti1 |
A |
G |
2: 157,850,870 (GRCm39) |
V123A |
possibly damaging |
Het |
| Usp1 |
T |
C |
4: 98,817,973 (GRCm39) |
C147R |
probably damaging |
Het |
| Vill |
A |
G |
9: 118,895,782 (GRCm39) |
N106S |
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 |
|
|
R2867:Adss2
|
UTSW |
1 |
177,595,378 (GRCm39) |
splice site |
probably null |
|
|
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'- CAAGAGTCAACATCCCAGGG -3'
(R):5'- GACACAAGTCTGGTTTTGAGG -3'
Sequencing Primer
(F):5'- GAGTCAACATCCCAGGGAAATC -3'
(R):5'- ATCCCAGGATTTGCATAGGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation