Incidental Mutation 'IGL02990:Ampd3'
ID |
406911 |
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 # |
IGL02990
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
110367413-110411612 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 110407170 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149655
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005829]
[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 |
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 |
probably benign
Transcript: ENSMUST00000176210
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12b |
G |
T |
11: 69,054,032 (GRCm39) |
V205F |
probably benign |
Het |
Arhgef18 |
G |
A |
8: 3,494,904 (GRCm39) |
V388I |
probably benign |
Het |
Atp6v1c2 |
C |
T |
12: 17,344,741 (GRCm39) |
V169I |
probably damaging |
Het |
Ccdc88b |
G |
T |
19: 6,824,777 (GRCm39) |
L1328I |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Cluh |
G |
A |
11: 74,558,591 (GRCm39) |
|
probably null |
Het |
Cpsf7 |
C |
A |
19: 10,509,159 (GRCm39) |
N23K |
probably benign |
Het |
Cyp4x1 |
A |
T |
4: 114,978,946 (GRCm39) |
F191L |
probably benign |
Het |
Dcn |
A |
G |
10: 97,345,835 (GRCm39) |
T216A |
probably benign |
Het |
Drosha |
C |
T |
15: 12,827,353 (GRCm39) |
|
probably benign |
Het |
Foxn4 |
A |
G |
5: 114,411,050 (GRCm39) |
S24P |
probably damaging |
Het |
Gm11733 |
A |
T |
11: 117,377,809 (GRCm39) |
|
probably null |
Het |
Hapln1 |
A |
C |
13: 89,749,725 (GRCm39) |
Y90S |
probably benign |
Het |
Igf2r |
C |
A |
17: 12,929,633 (GRCm39) |
|
probably benign |
Het |
Jade2 |
A |
G |
11: 51,722,074 (GRCm39) |
|
probably benign |
Het |
Kcnh7 |
A |
T |
2: 62,536,330 (GRCm39) |
L1084H |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,966,985 (GRCm39) |
D1155G |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,745,159 (GRCm39) |
M958V |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,271,740 (GRCm39) |
V4064A |
possibly damaging |
Het |
Mau2 |
A |
G |
8: 70,474,905 (GRCm39) |
|
probably benign |
Het |
Mllt10 |
T |
C |
2: 18,128,522 (GRCm39) |
|
probably benign |
Het |
Myo15a |
A |
G |
11: 60,370,266 (GRCm39) |
T1009A |
probably benign |
Het |
Myo6 |
T |
C |
9: 80,183,685 (GRCm39) |
|
probably null |
Het |
Neil2 |
G |
T |
14: 63,429,258 (GRCm39) |
H12N |
possibly damaging |
Het |
Nrde2 |
T |
C |
12: 100,108,355 (GRCm39) |
E412G |
probably damaging |
Het |
Or14j3 |
C |
T |
17: 37,900,559 (GRCm39) |
M228I |
probably benign |
Het |
Or4c115 |
T |
C |
2: 88,927,473 (GRCm39) |
Y266C |
possibly damaging |
Het |
Patl2 |
T |
G |
2: 121,954,978 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
T |
C |
1: 20,593,187 (GRCm39) |
H1642R |
possibly damaging |
Het |
Ppp6r1 |
A |
G |
7: 4,646,022 (GRCm39) |
I199T |
possibly damaging |
Het |
Prom2 |
T |
A |
2: 127,370,734 (GRCm39) |
T817S |
probably benign |
Het |
Slc49a4 |
C |
A |
16: 35,555,861 (GRCm39) |
V200F |
possibly damaging |
Het |
Slc9b1 |
A |
G |
3: 135,100,744 (GRCm39) |
|
probably null |
Het |
Sv2c |
A |
T |
13: 96,224,886 (GRCm39) |
I141K |
probably damaging |
Het |
Tas2r139 |
A |
T |
6: 42,118,038 (GRCm39) |
I57F |
probably damaging |
Het |
Tep1 |
A |
G |
14: 51,105,703 (GRCm39) |
S106P |
possibly damaging |
Het |
Tnni3k |
T |
C |
3: 154,663,395 (GRCm39) |
D319G |
probably benign |
Het |
Tom1l2 |
C |
T |
11: 60,121,062 (GRCm39) |
D461N |
probably damaging |
Het |
Ugt1a10 |
T |
C |
1: 87,983,601 (GRCm39) |
L133S |
probably damaging |
Het |
Usf2 |
T |
G |
7: 30,654,732 (GRCm39) |
Q161P |
probably benign |
Het |
Vmn1r15 |
A |
G |
6: 57,235,593 (GRCm39) |
T154A |
probably benign |
Het |
Vmn2r95 |
C |
A |
17: 18,672,298 (GRCm39) |
Y678* |
probably null |
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 |
|
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 |
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 |
2016-08-02 |