Incidental Mutation 'IGL00576:Ampd3'
| ID |
12457 |
| 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 # |
IGL00576
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
110367413-110411612 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 110388028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005829]
[ENSMUST00000143786]
[ENSMUST00000147587]
[ENSMUST00000148292]
[ENSMUST00000170374]
[ENSMUST00000213373]
|
| AlphaFold |
O08739 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005829
|
| SMART Domains |
Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686
| 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: ENSMUST00000106686
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143786
|
| SMART Domains |
Protein: ENSMUSP00000120983
Gene: ENSMUSG00000005686
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
119 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147587
|
| SMART Domains |
Protein: ENSMUSP00000121238
Gene: ENSMUSG00000005686
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148292
|
| SMART Domains |
Protein: ENSMUSP00000122657
Gene: ENSMUSG00000005686
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170374
|
| SMART Domains |
Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686
| 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 |
noncoding transcript
Transcript: ENSMUST00000176487
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213373
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak8 |
T |
C |
2: 28,632,729 (GRCm39) |
L316P |
probably damaging |
Het |
| Arhgap42 |
C |
A |
9: 8,997,621 (GRCm39) |
E835* |
probably null |
Het |
| Arid2 |
G |
A |
15: 96,254,639 (GRCm39) |
V162M |
probably damaging |
Het |
| Atp2a2 |
C |
T |
5: 122,596,146 (GRCm39) |
|
probably null |
Het |
| Bmper |
A |
G |
9: 23,317,899 (GRCm39) |
D506G |
probably damaging |
Het |
| Clca4b |
A |
G |
3: 144,631,108 (GRCm39) |
F251L |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,554,934 (GRCm39) |
D2048G |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,341,882 (GRCm39) |
S1227N |
probably damaging |
Het |
| Dpp8 |
T |
A |
9: 64,951,111 (GRCm39) |
H182Q |
probably benign |
Het |
| Drosha |
A |
G |
15: 12,883,280 (GRCm39) |
K798E |
probably damaging |
Het |
| Gbp8 |
A |
G |
5: 105,165,754 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,806,092 (GRCm39) |
I1843T |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,763,733 (GRCm39) |
N772S |
possibly damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,508,212 (GRCm39) |
|
probably benign |
Het |
| Ndst2 |
T |
C |
14: 20,774,552 (GRCm39) |
R835G |
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,773,145 (GRCm39) |
V836A |
possibly damaging |
Het |
| Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,359,948 (GRCm39) |
H192R |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,740,276 (GRCm39) |
F392L |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,794,885 (GRCm39) |
F1024L |
probably damaging |
Het |
| Vezf1 |
T |
A |
11: 87,964,470 (GRCm39) |
C19* |
probably null |
Het |
| Wdr47 |
A |
G |
3: 108,526,050 (GRCm39) |
N191S |
probably benign |
Het |
| Zfp7 |
T |
G |
15: 76,775,101 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
A |
T |
4: 147,910,778 (GRCm39) |
C273S |
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 |
|
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 |
2012-12-06 |
Incidental Mutation