Incidental Mutation 'IGL00421:Ampd3'
| ID |
6272 |
| 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 # |
IGL00421
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
110367413-110411612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110402354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 453
(R453C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005829]
[ENSMUST00000170374]
[ENSMUST00000213373]
|
| AlphaFold |
O08739 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005829
AA Change: R444C
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686
AA Change: R444C
| 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 benign
Transcript: ENSMUST00000170374
AA Change: R444C
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686
AA Change: R444C
| 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 benign
Transcript: ENSMUST00000213373
AA Change: R453C
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8 |
T |
C |
17: 32,536,254 (GRCm39) |
Y53C |
probably damaging |
Het |
| Apob |
A |
C |
12: 8,060,197 (GRCm39) |
D2860A |
probably damaging |
Het |
| Arhgef1 |
C |
A |
7: 24,607,784 (GRCm39) |
R52S |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Cacna1i |
A |
T |
15: 80,266,220 (GRCm39) |
D1569V |
probably damaging |
Het |
| Clic6 |
A |
T |
16: 92,296,196 (GRCm39) |
E285D |
probably damaging |
Het |
| Dok5 |
T |
G |
2: 170,671,876 (GRCm39) |
|
probably null |
Het |
| Gpr89 |
A |
G |
3: 96,805,839 (GRCm39) |
F24S |
probably damaging |
Het |
| Grsf1 |
T |
C |
5: 88,818,137 (GRCm39) |
D84G |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,491,703 (GRCm39) |
K479E |
probably damaging |
Het |
| Mx2 |
A |
T |
16: 97,345,678 (GRCm39) |
N32I |
probably damaging |
Het |
| Myo16 |
G |
T |
8: 10,488,889 (GRCm39) |
V687F |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,456,769 (GRCm39) |
D977G |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,123,374 (GRCm39) |
V97E |
possibly damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,021,177 (GRCm39) |
Y130* |
probably null |
Het |
| Pnpla7 |
T |
A |
2: 24,866,327 (GRCm39) |
|
probably null |
Het |
| Pramel51 |
A |
T |
12: 88,143,882 (GRCm39) |
D310E |
probably benign |
Het |
| Prcc |
A |
T |
3: 87,779,515 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
A |
C |
7: 109,975,039 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
A |
2: 125,585,776 (GRCm39) |
V859F |
probably damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,774,733 (GRCm39) |
Q129K |
possibly damaging |
Het |
| Srrm2 |
G |
A |
17: 24,031,452 (GRCm39) |
S295N |
probably benign |
Het |
| Tacr3 |
A |
C |
3: 134,560,582 (GRCm39) |
I174L |
probably benign |
Het |
| Tchp |
A |
C |
5: 114,846,794 (GRCm39) |
D27A |
probably benign |
Het |
| Usp31 |
A |
T |
7: 121,247,873 (GRCm39) |
V1190D |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,023,576 (GRCm39) |
T2122A |
probably benign |
Het |
|
| Other mutations in Ampd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL01551:Ampd3
|
APN |
7 |
110,404,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-04-20 |
Incidental Mutation