Incidental Mutation 'R0025:Ampd3'
ID |
15134 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ampd3
|
Ensembl Gene |
ENSMUSG00000005686 |
Gene Name |
adenosine monophosphate deaminase 3 |
Synonyms |
|
MMRRC Submission |
038320-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0025 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
110367413-110411612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 110392876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 215
(D215N)
|
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
AA Change: D206N
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000005829 Gene: ENSMUSG00000005686 AA Change: D206N
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
AA Change: D206N
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000130495 Gene: ENSMUSG00000005686 AA Change: D206N
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
AA Change: D215N
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
Meta Mutation Damage Score |
0.0700 |
Coding Region Coverage |
- 1x: 75.6%
- 3x: 62.5%
- 10x: 33.3%
- 20x: 15.9%
|
Validation Efficiency |
95% (69/73) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm1 |
A |
T |
7: 119,257,538 (GRCm39) |
T435S |
probably damaging |
Het |
Agtpbp1 |
G |
A |
13: 59,648,014 (GRCm39) |
T602I |
probably benign |
Het |
Ahnak2 |
T |
A |
12: 112,749,154 (GRCm39) |
D231V |
probably damaging |
Het |
Ate1 |
A |
G |
7: 130,105,523 (GRCm39) |
S332P |
probably damaging |
Het |
Ces1f |
T |
C |
8: 93,998,513 (GRCm39) |
E161G |
probably benign |
Het |
Ces2g |
A |
G |
8: 105,692,628 (GRCm39) |
|
probably benign |
Het |
Cntnap4 |
T |
G |
8: 113,529,796 (GRCm39) |
L668R |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Csf1 |
A |
G |
3: 107,655,960 (GRCm39) |
V245A |
probably benign |
Het |
Ctss |
A |
G |
3: 95,457,448 (GRCm39) |
Y302C |
probably damaging |
Het |
Dbt |
C |
T |
3: 116,328,432 (GRCm39) |
H158Y |
probably benign |
Het |
Dennd6b |
T |
C |
15: 89,070,386 (GRCm39) |
I428V |
probably benign |
Het |
Dnah9 |
G |
A |
11: 65,860,781 (GRCm39) |
|
probably benign |
Het |
Dock3 |
G |
T |
9: 106,790,467 (GRCm39) |
Q1419K |
possibly damaging |
Het |
Enpp6 |
A |
G |
8: 47,519,035 (GRCm39) |
K268E |
probably damaging |
Het |
Eps15l1 |
T |
G |
8: 73,135,341 (GRCm39) |
|
probably benign |
Het |
Gm10800 |
C |
A |
2: 98,496,925 (GRCm39) |
M209I |
probably benign |
Het |
Herc3 |
C |
T |
6: 58,851,293 (GRCm39) |
P514L |
probably damaging |
Het |
Mark2 |
T |
C |
19: 7,263,287 (GRCm39) |
D160G |
probably damaging |
Het |
Mbd4 |
A |
G |
6: 115,821,529 (GRCm39) |
|
probably null |
Het |
Mink1 |
T |
C |
11: 70,503,868 (GRCm39) |
W1263R |
probably damaging |
Het |
Nlrp14 |
A |
T |
7: 106,780,465 (GRCm39) |
|
probably benign |
Het |
Osbp |
T |
C |
19: 11,961,322 (GRCm39) |
Y454H |
probably damaging |
Het |
Pak5 |
T |
C |
2: 135,942,704 (GRCm39) |
K479E |
possibly damaging |
Het |
Pard3 |
C |
A |
8: 127,888,058 (GRCm39) |
D73E |
probably damaging |
Het |
Pmp22 |
A |
T |
11: 63,049,076 (GRCm39) |
|
probably null |
Het |
Scn4a |
C |
T |
11: 106,215,386 (GRCm39) |
V1197I |
probably benign |
Het |
Slc36a2 |
A |
G |
11: 55,053,621 (GRCm39) |
L339P |
probably damaging |
Het |
Smg1 |
G |
A |
7: 117,811,666 (GRCm39) |
T104I |
possibly damaging |
Het |
Stx18 |
T |
A |
5: 38,249,908 (GRCm39) |
Y74N |
probably damaging |
Het |
Stxbp5 |
A |
T |
10: 9,638,492 (GRCm39) |
H1102Q |
probably damaging |
Het |
Tom1l2 |
T |
C |
11: 60,120,960 (GRCm39) |
K450E |
probably damaging |
Het |
Tpo |
T |
C |
12: 30,150,389 (GRCm39) |
Q497R |
probably benign |
Het |
Tsc2 |
A |
G |
17: 24,849,978 (GRCm39) |
|
probably benign |
Het |
Tut7 |
A |
T |
13: 59,953,142 (GRCm39) |
D99E |
probably benign |
Het |
Vit |
G |
A |
17: 78,907,264 (GRCm39) |
G229R |
probably benign |
Het |
Vwf |
T |
A |
6: 125,659,775 (GRCm39) |
I2658N |
probably benign |
Het |
Wdr36 |
T |
A |
18: 32,992,360 (GRCm39) |
D632E |
probably damaging |
Het |
Zfp654 |
A |
G |
16: 64,605,181 (GRCm39) |
V466A |
probably benign |
Het |
Zfp941 |
T |
C |
7: 140,393,185 (GRCm39) |
D58G |
probably benign |
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 |
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 |
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 |
2012-12-12 |