Incidental Mutation 'R6066:Ampd3'
ID |
484042 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ampd3
|
Ensembl Gene |
ENSMUSG00000005686 |
Gene Name |
adenosine monophosphate deaminase 3 |
Synonyms |
|
MMRRC Submission |
044230-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6066 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
110367413-110411612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 110392974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 247
(E247D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149655
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005829]
[ENSMUST00000143786]
[ENSMUST00000148292]
[ENSMUST00000170374]
[ENSMUST00000213373]
|
AlphaFold |
O08739 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005829
AA Change: E238D
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000005829 Gene: ENSMUSG00000005686 AA Change: E238D
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: 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: E238D
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000130495 Gene: ENSMUSG00000005686 AA Change: E238D
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: E247D
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adgrb1 |
T |
C |
15: 74,412,308 (GRCm39) |
F429S |
probably damaging |
Het |
Ahi1 |
A |
T |
10: 20,835,825 (GRCm39) |
M53L |
possibly damaging |
Het |
Ahr |
A |
T |
12: 35,554,920 (GRCm39) |
F400I |
probably damaging |
Het |
Ak7 |
G |
T |
12: 105,699,750 (GRCm39) |
G223V |
possibly damaging |
Het |
Alpk3 |
A |
G |
7: 80,726,698 (GRCm39) |
I128V |
possibly damaging |
Het |
Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
Arhgef10l |
A |
G |
4: 140,304,391 (GRCm39) |
F243L |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,269,537 (GRCm39) |
V661E |
probably damaging |
Het |
Cox8c |
A |
G |
12: 102,866,534 (GRCm39) |
T53A |
probably benign |
Het |
Creld2 |
C |
A |
15: 88,707,969 (GRCm39) |
T236K |
possibly damaging |
Het |
Cul3 |
A |
T |
1: 80,261,476 (GRCm39) |
C250S |
probably benign |
Het |
Dhx37 |
A |
C |
5: 125,501,730 (GRCm39) |
F510V |
probably benign |
Het |
Fblim1 |
T |
C |
4: 141,305,220 (GRCm39) |
D350G |
probably damaging |
Het |
Lipm |
A |
G |
19: 34,090,374 (GRCm39) |
Y185C |
probably damaging |
Het |
Mfsd4b4 |
A |
G |
10: 39,768,049 (GRCm39) |
F348S |
probably benign |
Het |
Misp |
A |
G |
10: 79,662,146 (GRCm39) |
R188G |
possibly damaging |
Het |
Nbeal1 |
T |
G |
1: 60,287,564 (GRCm39) |
I936S |
probably benign |
Het |
Ngly1 |
G |
A |
14: 16,294,634 (GRCm38) |
M521I |
probably benign |
Het |
Nlrp9a |
A |
T |
7: 26,257,510 (GRCm39) |
Y376F |
probably benign |
Het |
Oas3 |
T |
C |
5: 120,910,989 (GRCm39) |
K197R |
probably damaging |
Het |
Pars2 |
T |
C |
4: 106,511,276 (GRCm39) |
Y353H |
probably damaging |
Het |
Pik3r1 |
T |
C |
13: 101,822,828 (GRCm39) |
N625D |
possibly damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,391,525 (GRCm39) |
S1530R |
probably damaging |
Het |
Rsph6a |
C |
T |
7: 18,799,740 (GRCm39) |
P457L |
probably damaging |
Het |
Secisbp2 |
T |
C |
13: 51,831,258 (GRCm39) |
S565P |
probably benign |
Het |
Slc28a3 |
T |
C |
13: 58,726,301 (GRCm39) |
M163V |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
Szt2 |
T |
C |
4: 118,229,171 (GRCm39) |
T2890A |
unknown |
Het |
Tatdn3 |
A |
T |
1: 190,778,465 (GRCm39) |
V242E |
probably benign |
Het |
Vmn1r22 |
T |
G |
6: 57,877,864 (GRCm39) |
M38L |
probably benign |
Het |
Vmn2r104 |
A |
G |
17: 20,258,573 (GRCm39) |
F524L |
possibly damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,477,695 (GRCm39) |
S239P |
probably damaging |
Het |
Xpo7 |
T |
C |
14: 70,919,778 (GRCm39) |
D679G |
probably null |
Het |
Zbtb42 |
C |
A |
12: 112,646,041 (GRCm39) |
T72K |
probably damaging |
Het |
Zfp493 |
G |
A |
13: 67,935,069 (GRCm39) |
A341T |
possibly damaging |
Het |
Zfp811 |
A |
G |
17: 33,017,801 (GRCm39) |
C80R |
possibly 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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTGTCAAAGTGTTCAACATTGG -3'
(R):5'- TTCCACGTGCCCATGTACAG -3'
Sequencing Primer
(F):5'- GTTCAACATTGGTCATTTGGCC -3'
(R):5'- GCAGTAACAGCTCTAAGTCTGTGC -3'
|
Posted On |
2017-07-14 |