Incidental Mutation 'IGL01551:Ampd3'
| ID |
93267 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ampd3
|
| Ensembl Gene |
ENSMUSG00000005686 |
| Gene Name |
adenosine monophosphate deaminase 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01551
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
110367413-110411612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110404183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 569
(N569S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005829]
[ENSMUST00000170374]
[ENSMUST00000213373]
|
| AlphaFold |
O08739 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005829
AA Change: N569S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686
AA Change: N569S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
Pfam:A_deaminase
|
309 |
716 |
1.5e-139 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148367
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170374
AA Change: N569S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686
AA Change: N569S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
Pfam:A_deaminase
|
309 |
716 |
7.6e-129 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195971
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213373
AA Change: N578S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the adenosine and AMP deaminases family. The encoded protein is an AMP deaminase involved in nucleotide and energy metabolism in erythrocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased mean corpuscular volume, abnormal erythrocyte physiology including increased erythrocyte ATP levels and osmotic fragility after fasting, and increased lung inflammation after hind-limb ischemia andreperfusion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
G |
A |
10: 78,924,147 (GRCm39) |
S103L |
possibly damaging |
Het |
| Acvr2a |
G |
A |
2: 48,787,071 (GRCm39) |
A389T |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,784,001 (GRCm39) |
S1037P |
probably damaging |
Het |
| Adcyap1 |
A |
G |
17: 93,511,446 (GRCm39) |
Y140C |
probably damaging |
Het |
| Bin1 |
G |
T |
18: 32,510,511 (GRCm39) |
V18L |
probably benign |
Het |
| Ccdc158 |
A |
G |
5: 92,814,620 (GRCm39) |
Y69H |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,611 (GRCm39) |
R134G |
possibly damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,019,286 (GRCm39) |
V101A |
probably damaging |
Het |
| Edar |
T |
C |
10: 58,441,860 (GRCm39) |
|
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,134,691 (GRCm39) |
|
probably benign |
Het |
| Gm10961 |
A |
G |
3: 107,540,281 (GRCm39) |
|
probably benign |
Het |
| Hsd3b3 |
T |
C |
3: 98,649,216 (GRCm39) |
D369G |
probably benign |
Het |
| Ifi202b |
T |
A |
1: 173,798,928 (GRCm39) |
K373N |
probably benign |
Het |
| Khk |
C |
A |
5: 31,082,189 (GRCm39) |
H67N |
probably benign |
Het |
| Kif7 |
T |
A |
7: 79,360,314 (GRCm39) |
|
probably null |
Het |
| Mbd1 |
C |
T |
18: 74,402,614 (GRCm39) |
|
probably benign |
Het |
| Mtor |
A |
G |
4: 148,556,494 (GRCm39) |
H968R |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,673,157 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,618 (GRCm39) |
T250A |
probably benign |
Het |
| Or2f1b |
A |
G |
6: 42,739,046 (GRCm39) |
D20G |
probably damaging |
Het |
| Or5d40 |
A |
T |
2: 88,015,629 (GRCm39) |
H136L |
probably benign |
Het |
| Otol1 |
T |
C |
3: 69,935,057 (GRCm39) |
F350L |
probably damaging |
Het |
| Pramel22 |
T |
C |
4: 143,383,042 (GRCm39) |
N59S |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,352,342 (GRCm39) |
|
probably benign |
Het |
| Rps6kc1 |
A |
T |
1: 190,505,837 (GRCm39) |
S1042T |
possibly damaging |
Het |
| Rtn1 |
C |
T |
12: 72,263,709 (GRCm39) |
V741I |
possibly damaging |
Het |
| Tor2a |
T |
A |
2: 32,650,595 (GRCm39) |
|
probably benign |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,688 (GRCm39) |
I63V |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,703 (GRCm39) |
I89F |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,343,849 (GRCm39) |
D2030G |
probably benign |
Het |
| Zfp326 |
T |
C |
5: 106,036,451 (GRCm39) |
S121P |
probably damaging |
Het |
|
| Other mutations in Ampd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Ampd3
|
APN |
7 |
110,402,354 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00576:Ampd3
|
APN |
7 |
110,388,028 (GRCm39) |
splice site |
probably benign |
|
|
IGL00805:Ampd3
|
APN |
7 |
110,409,072 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01486:Ampd3
|
APN |
7 |
110,409,123 (GRCm39) |
splice site |
probably benign |
|
|
IGL02088:Ampd3
|
APN |
7 |
110,392,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02123:Ampd3
|
APN |
7 |
110,401,766 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02605:Ampd3
|
APN |
7 |
110,394,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02990:Ampd3
|
APN |
7 |
110,407,170 (GRCm39) |
splice site |
probably benign |
|
|
carson
|
UTSW |
7 |
110,399,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
commanche
|
UTSW |
7 |
110,407,078 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
guangdong
|
UTSW |
7 |
110,402,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
macao
|
UTSW |
7 |
110,402,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
penasco
|
UTSW |
7 |
110,402,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
taos
|
UTSW |
7 |
110,404,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0025:Ampd3
|
UTSW |
7 |
110,392,876 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0025:Ampd3
|
UTSW |
7 |
110,392,876 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0608:Ampd3
|
UTSW |
7 |
110,394,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Ampd3
|
UTSW |
7 |
110,394,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0718:Ampd3
|
UTSW |
7 |
110,377,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0799:Ampd3
|
UTSW |
7 |
110,399,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1053:Ampd3
|
UTSW |
7 |
110,387,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Ampd3
|
UTSW |
7 |
110,404,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1676:Ampd3
|
UTSW |
7 |
110,394,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1977:Ampd3
|
UTSW |
7 |
110,402,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2380:Ampd3
|
UTSW |
7 |
110,399,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2419:Ampd3
|
UTSW |
7 |
110,367,576 (GRCm39) |
unclassified |
probably benign |
|
|
R3438:Ampd3
|
UTSW |
7 |
110,402,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907:Ampd3
|
UTSW |
7 |
110,392,877 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5367:Ampd3
|
UTSW |
7 |
110,407,078 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5625:Ampd3
|
UTSW |
7 |
110,401,730 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6066:Ampd3
|
UTSW |
7 |
110,392,974 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6267:Ampd3
|
UTSW |
7 |
110,390,387 (GRCm39) |
splice site |
probably null |
|
|
R6493:Ampd3
|
UTSW |
7 |
110,395,018 (GRCm39) |
splice site |
probably null |
|
|
R6852:Ampd3
|
UTSW |
7 |
110,401,753 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7147:Ampd3
|
UTSW |
7 |
110,404,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Ampd3
|
UTSW |
7 |
110,405,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7649:Ampd3
|
UTSW |
7 |
110,377,049 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7843:Ampd3
|
UTSW |
7 |
110,390,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7946:Ampd3
|
UTSW |
7 |
110,377,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8319:Ampd3
|
UTSW |
7 |
110,394,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8377:Ampd3
|
UTSW |
7 |
110,399,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9202:Ampd3
|
UTSW |
7 |
110,402,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9498:Ampd3
|
UTSW |
7 |
110,409,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9623:Ampd3
|
UTSW |
7 |
110,402,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9720:Ampd3
|
UTSW |
7 |
110,377,056 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Ampd3
|
UTSW |
7 |
110,377,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ampd3
|
UTSW |
7 |
110,387,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation