Incidental Mutation 'R2380:Ampd3'
ID |
248426 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ampd3
|
Ensembl Gene |
ENSMUSG00000005686 |
Gene Name |
adenosine monophosphate deaminase 3 |
Synonyms |
|
MMRRC Submission |
040356-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2380 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
110367413-110411612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 110399917 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 344
(T344M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149655
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005829]
[ENSMUST00000170374]
[ENSMUST00000213373]
|
AlphaFold |
O08739 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005829
AA Change: T335M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005829 Gene: ENSMUSG00000005686 AA Change: T335M
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 damaging
Transcript: ENSMUST00000170374
AA Change: T335M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130495 Gene: ENSMUSG00000005686 AA Change: T335M
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 damaging
Transcript: ENSMUST00000213373
AA Change: T344M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
100% (44/44) |
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 |
4930407I10Rik |
T |
C |
15: 81,949,036 (GRCm39) |
S978P |
possibly damaging |
Het |
Ago3 |
G |
A |
4: 126,262,315 (GRCm39) |
R412C |
probably damaging |
Het |
Arl10 |
G |
T |
13: 54,722,962 (GRCm39) |
V19L |
probably benign |
Het |
Aspm |
C |
T |
1: 139,407,086 (GRCm39) |
A1991V |
probably damaging |
Het |
Axdnd1 |
A |
T |
1: 156,193,221 (GRCm39) |
D655E |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,196,878 (GRCm39) |
H1169R |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,023,586 (GRCm39) |
F942L |
probably damaging |
Het |
Camk2g |
A |
G |
14: 20,789,455 (GRCm39) |
I205T |
probably damaging |
Het |
Cdh5 |
C |
A |
8: 104,852,304 (GRCm39) |
H140N |
possibly damaging |
Het |
Cog8 |
C |
A |
8: 107,782,993 (GRCm39) |
G99W |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 16,240,101 (GRCm39) |
C1104R |
probably damaging |
Het |
Dhrs7c |
G |
A |
11: 67,706,690 (GRCm39) |
V283M |
probably benign |
Het |
Emilin2 |
T |
A |
17: 71,617,219 (GRCm39) |
Q64L |
probably benign |
Het |
Enpp3 |
T |
C |
10: 24,652,770 (GRCm39) |
E729G |
probably benign |
Het |
Fam169a |
T |
A |
13: 97,255,043 (GRCm39) |
|
probably benign |
Het |
Gvin-ps3 |
T |
C |
7: 105,681,374 (GRCm39) |
E627G |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,441,135 (GRCm39) |
M5374L |
probably benign |
Het |
Hsd17b1 |
A |
T |
11: 100,969,289 (GRCm39) |
I8F |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,036,395 (GRCm39) |
E1111G |
probably benign |
Het |
Kcmf1 |
A |
G |
6: 72,835,755 (GRCm39) |
|
probably null |
Het |
Kdm1b |
T |
A |
13: 47,227,231 (GRCm39) |
F574L |
probably damaging |
Het |
Lgr4 |
T |
C |
2: 109,842,738 (GRCm39) |
Y908H |
probably damaging |
Het |
Lig1 |
T |
C |
7: 13,037,722 (GRCm39) |
|
probably benign |
Het |
Ltbp3 |
C |
A |
19: 5,801,551 (GRCm39) |
C698* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,113,144 (GRCm39) |
V1216A |
possibly damaging |
Het |
Or52e3 |
A |
T |
7: 102,869,815 (GRCm39) |
T297S |
possibly damaging |
Het |
Or5b109 |
T |
C |
19: 13,212,085 (GRCm39) |
V157A |
probably benign |
Het |
Or5l13 |
T |
C |
2: 87,779,741 (GRCm39) |
T279A |
probably damaging |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Ppp5c |
A |
G |
7: 16,740,040 (GRCm39) |
Y434H |
probably damaging |
Het |
Pwwp2b |
A |
G |
7: 138,835,366 (GRCm39) |
E269G |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,544,124 (GRCm39) |
T299S |
probably benign |
Het |
Skint5 |
G |
A |
4: 113,403,733 (GRCm39) |
T1163I |
unknown |
Het |
Slc35f4 |
A |
G |
14: 49,543,660 (GRCm39) |
|
probably null |
Het |
Smr2l |
T |
G |
5: 88,430,413 (GRCm39) |
M103R |
probably benign |
Het |
Trmt5 |
A |
G |
12: 73,331,888 (GRCm39) |
I4T |
probably benign |
Het |
Ttc7b |
A |
G |
12: 100,321,260 (GRCm39) |
|
probably null |
Het |
Utp6 |
A |
G |
11: 79,826,831 (GRCm39) |
S582P |
possibly damaging |
Het |
Zbtb41 |
T |
C |
1: 139,351,552 (GRCm39) |
S222P |
probably damaging |
Het |
Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAAAGACTAGCTCCGAGG -3'
(R):5'- CAGAGCACTCCTGATAGAAGTAC -3'
Sequencing Primer
(F):5'- GGTTGGCATTCTGTCCACAGC -3'
(R):5'- TCCTGATAGAAGTACCCAGGGC -3'
|
Posted On |
2014-11-11 |